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["disease_id","disease_name","cluster","cluster_items","silhouette_sample"]
["C0001231","ACTH Syndrome, Ectopic",155,29,"0.8917446133803774"]
["C0001614","Adrenal Cortex Diseases",155,29,"0.8930542471690757"]
["C0001622","Adrenal Gland Hyperfunction",155,29,"0.6835686301495986"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185"]
["C0015469","Facial paralysis",155,29,"0.63050275280022"]
["C0020488","Hypernatremia",155,29,"0.5913723966697572"]
["C0154695","Diplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0154697","Cerebral Palsy, Quadriplegic, Infantile",155,29,"0.8930542471690757"]
["C0154698","Monoplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0242217","Calcium Pyrophosphate Dihydrate Deposition",155,29,"0.8930542471690757"]
["C0270742","Athetoid cerebral palsy",155,29,"0.8930542471690757"]
["C0270807","Monoplegic Cerebral Palsy",155,29,"0.8930542471690757"]
["C0271738","Hypocortisolism secondary to another disorder",155,29,"0.8930542471690757"]
["C0338596","Spastic cerebral palsy",155,29,"0.8930542471690757"]
["C0340375","Subaortic stenosis",155,29,"0.42098968313868534"]
["C0342442","ACTH-dependent Cushing\\'s syndrome",155,29,"0.8930542471690757"]
["C0342494","Adrenocortical hyperplasia",155,29,"0.49969250988094815"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757"]
["C0394003","Cerebral Palsy, Dystonic-Rigid",155,29,"0.8930542471690757"]
["C0394007","Cerebral Palsy, Atonic",155,29,"0.8930542471690757"]
["C0553767","Congenital Cerebral Palsy",155,29,"0.8930542471690757"]
["C0574960","Sacroiliitis",155,29,"0.8776843642592694"]
["C0751024","Cerebral Palsy, Mixed",155,29,"0.8930542471690757"]
["C0751025","Cerebral Palsy, Rolandic Type",155,29,"0.8930542471690757"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757"]
["C2936444","Pyogenic Sacroiliitis",155,29,"0.8930542471690757"]
["C2936445","Septic Sacroiliitis",155,29,"0.8930542471690757"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942"]
["C0158328","Trigger Finger Disorder",701,24,"0.923439776663983"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983"]
["C0259749","Autonomic neuropathy",701,24,"0.8613429782763394"]
["C0268380","Systemic amyloidosis",701,24,"0.6363915466641327"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983"]
["C0339562","Amyloid of vitreous",701,24,"0.923439776663983"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871"]
["C0342613","Danish type familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0342623","Senile systemic amyloidosis",701,24,"0.923439776663983"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983"]
["C1719315","Hereditary cardiac amyloidosis",701,24,"0.923439776663983"]
["C2718001","Protein Misfolding Disorders",701,24,"0.923439776663983"]
["C2750824","Dystransthyretinemic Euthyroidal Hyperthyroxinemia",701,24,"0.923439776663983"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642"]
["C3151470","AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3151471","AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3468338","CARPAL TUNNEL SYNDROME, FAMILIAL",701,24,"0.923439776663983"]
["C4275067","Transthyretin related familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695"]
["C0264913","Left posterior fascicular block",761,20,"0.6561976047947479"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731"]
["C0344431","Ventricular tachycardia, monomorphic",761,20,"0.6561976047947479"]
["C0685108","Lenegre\\'s disease",761,20,"0.6561976047947479"]
["C1141890","Congenital long QT syndrome",761,20,"-0.4814313865646901"]
["C1832680","CARDIOMYOPATHY, DILATED, 1E",761,20,"0.6561976047947479"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479"]
["C3151464","ATRIAL FIBRILLATION, FAMILIAL, 10",761,20,"0.6561976047947479"]
["C3276240","LONG QT SYNDROME 2/3, DIGENIC",761,20,"0.5148869923873103"]
["C3276241","LONG QT SYNDROME 3/6, DIGENIC Disorder",761,20,"0.42203767574616585"]
["C3698186","Cardiac channelopathy",761,20,"0.6561976047947479"]
["C4476543","Complete heart block with broad QRS complexes",761,20,"0.6561976047947479"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C1854260","LEBER CONGENITAL AMAUROSIS 6 (disorder)",571,20,"0.9740371723062394"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255"]
["C0595905","cortex bone disorders",62,19,"0.947551417529255"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338"]
["C1862556","Apolipoprotein E, Deficiency or Defect of",62,19,"0.947551417529255"]
["C1862557","Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d",62,19,"0.947551417529255"]
["C1862558","Familial Hyperbeta- and Prebetalipoproteinemia",62,19,"0.947551417529255"]
["C1862560","Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis",62,19,"0.947551417529255"]
["C1862561","Broad-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1862562","Floating-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693"]
["C4237227","Obstructive sleep apnea hypopnea",62,19,"0.947551417529255"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138"]
["C3275443","MENTAL RETARDATION, X-LINKED 90 (disorder)",217,18,"0.6438841517661003"]
["C3275444","MENTAL RETARDATION, X-LINKED 88 (disorder)",217,18,"0.9407568144808138"]
["C3887939","MENTAL RETARDATION, X-LINKED 41",217,18,"0.600161968928229"]
["C0001889","Akinetic Mutism",130,18,"0.880517536873952"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852"]
["C0022802","Kuru",130,18,"0.880517536873952"]
["C0162534","Prion Diseases",130,18,"0.5639481907382818"]
["C0206042","Fatal Familial Insomnia",130,18,"0.880517536873952"]
["C0751645","Human Transmissible Spongiform Encephalopathies, Inherited",130,18,"0.880517536873952"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952"]
["C2349757","Iatrogenic Jakob-Creutzfeldt disease",130,18,"0.548250420431056"]
["C2900450","Other Creutzfeldt-Jakob disease",130,18,"0.7910919249868396"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402"]
["C3805618","CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",130,18,"0.880517536873952"]
["C4275003","Familial Creutzfeldt-Jakob",130,18,"0.880517536873952"]
["C4303482","Familial Alzheimer-like prion disease",130,18,"0.880517536873952"]
["C0027145","Myxedema",562,17,"0.8680601743049992"]
["C0040149","Subacute thyroiditis",562,17,"0.8680601743049992"]
["C0040156","Thyrotoxicosis",562,17,"0.2650637609359388"]
["C0271790","Subclinical hypothyroidism",562,17,"0.8597538955951437"]
["C0271791","Severe hypothyroidism",562,17,"0.6205795358777723"]
["C0271814","Silent thyroiditis",562,17,"0.8680601743049992"]
["C0302840","Toxic thyroid adenoma",562,17,"0.8680601743049992"]
["C0342114","Diffuse goiter",562,17,"0.8680601743049992"]
["C0342122","Toxic diffuse goiter",562,17,"0.8680601743049992"]
["C0700502","Acquired hypothyroidism",562,17,"0.7958214371441152"]
["C0869147","Neonatal hyperthyroidism",562,17,"0.8680601743049992"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876"]
["C1262098","Congenital hyperthyroidism",562,17,"0.8680601743049992"]
["C1836706","Hyperthyroidism, Nonautoimmune",562,17,"0.8680601743049992"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329"]
["C0014547","Epilepsies, Partial",1039,16,"0.39604734328491253"]
["C0086240","Epilepsy, Simple Partial",1039,16,"0.9183429424175625"]
["C0234974","Simple Partial Seizures",1039,16,"0.7989936344921901"]
["C0270820","Gelastic Epilepsy",1039,16,"0.9183429424175625"]
["C0270847","Benign Focal Epilepsy, Childhood",1039,16,"0.9183429424175625"]
["C0393675","Childhood Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C0393679","Amygdalo-Hippocampal Epilepsy",1039,16,"0.9183429424175625"]
["C0393681","Rhinencephalic Epilepsy",1039,16,"0.9183429424175625"]
["C0393691","Occipital Lobe Epilepsy",1039,16,"0.9183429424175625"]
["C0751112","Subclinical Seizure",1039,16,"0.9183429424175625"]
["C0751113","Uncinate Seizures",1039,16,"0.9183429424175625"]
["C0751115","Digestive Epilepsy",1039,16,"0.9183429424175625"]
["C1851549","Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C3494976","Migrating partial seizures in infancy",1039,16,"0.7057371472318906"]
["C3554195","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14",1039,16,"0.7989936344921899"]
["C3554306","EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",1039,16,"0.8997102131297593"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658"]
["C0019021","Hemoglobin C Disease",363,15,"1.0"]
["C0221019","Sickle cell-beta-thalassemia",363,15,"1.0"]
["C0271986","delta beta^0^ Thalassemia",363,15,"1.0"]
["C0271987","^A^gamma delta beta^0^ thalassemia",363,15,"1.0"]
["C0272080","Hemoglobin D disease",363,15,"1.0"]
["C0272084","Hemoglobin SD disease",363,15,"1.0"]
["C0272085","Sickle cell-hemoglobin E disease",363,15,"1.0"]
["C0472769","Hemoglobin Lepore trait",363,15,"1.0"]
["C0472777","Hemoglobin E/beta thalassemia disease",363,15,"1.0"]
["C0599528","beta thalassemia major anemia",363,15,"1.0"]
["C0857812","Sickle cell-beta^+^-thalassemia",363,15,"1.0"]
["C0869532","Beta thalassemia minor",363,15,"1.0"]
["C1264000","Sickle cell-Hemoglobin O Arab disease",363,15,"1.0"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0"]
["C3161373","Dominant thalassemia",363,15,"1.0"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191"]
["C0154971","Presenile cataract",281,15,"0.6721328702701199"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685"]
["C0521573","Coloboma of eyelid",281,15,"0.04564369362472322"]
["C0549307","Morning glory syndrome",281,15,"0.7499787358115191"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191"]
["C1835698","Keratitis, hereditary",281,15,"0.7499787358115191"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191"]
["C3554721","Morning glory anomaly",281,15,"0.6160530614576153"]
["C3805604","FOVEAL HYPOPLASIA 1",281,15,"0.7499787358115191"]
["C4310809","ANTERIOR SEGMENT DYSGENESIS 5",281,15,"0.7499787358115191"]
["C0235820","Neonatal encephalopathy",1324,14,"0.9477127756007206"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529"]
["C0796222","Mental Retardation, X-Linked 16",1324,14,"0.9477127756007206"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206"]
["C1848211","Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism",1324,14,"0.9477127756007206"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206"]
["C1968552","Mental Retardation, X-Linked, With Spasticity",1324,14,"0.9477127756007206"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206"]
["C0393593","Dystonia Disorders",951,14,"0.6982519975028805"]
["C0393598","Idiopathic familial dystonia",951,14,"0.7679777162686043"]
["C0743332","Focal Dystonia",951,14,"0.9201450282110738"]
["C0752197","Adult-Onset Dystonias",951,14,"0.9589805064494471"]
["C0752198","Adult-Onset Idiopathic Focal Dystonias",951,14,"0.9592504244316343"]
["C0752199","Adult-Onset Idiopathic Torsion Dystonias",951,14,"0.9592504244316343"]
["C0752200","Autosomal Dominant Familial Dystonia",951,14,"0.9592504244316343"]
["C0752201","Autosomal Recessive Familial Dystonia",951,14,"0.9592504244316343"]
["C0752202","Childhood Onset Dystonias",951,14,"0.9583412898482454"]
["C0752203","Dystonia, Primary",951,14,"0.9427935104653784"]
["C0752205","Dystonia, Secondary",951,14,"0.9594463549465768"]
["C0752206","Dystonias, Sporadic",951,14,"0.9591923466269677"]
["C0752207","Familial Dystonia",951,14,"0.9117739505549026"]
["C4316810","Writer\\'s Cramp",951,14,"0.9592504244316343"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437"]
["C0796083","Najjar syndrome",183,14,"0.9732481556666437"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437"]
["C3266164","Dropped head syndrome",183,14,"0.9732481556666437"]
["C4021573","Patchy hypo- and hyperpigmentation",183,14,"0.9732481556666437"]
["C4021684","Sclerosis of hand bone",183,14,"0.9732481556666437"]
["C4275075","Atypical Werner syndrome",183,14,"0.9694821351266303"]
["C0033377","Ptosis",1196,13,"0.9182382953840843"]
["C0154208","Disorder of endocrine ovary",1196,13,"0.7066692397622093"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106"]
["C1862260","BPES, TYPE I",1196,13,"0.9829110049058106"]
["C1862261","BPES, TYPE II",1196,13,"0.9829110049058106"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106"]
["C0008526","Choroiditis",507,13,"0.8004782025957944"]
["C0020875","Ileal Diseases",507,13,"0.7697948998824663"]
["C0022081","Iritis",507,13,"0.7697948998824663"]
["C0272192","Familial eosinophilia",507,13,"0.8004782025957944"]
["C0275551","Primary bacterial peritonitis",507,13,"0.49002046160008855"]
["C0341268","Disorder of small intestine",507,13,"0.8004782025957944"]
["C0376620","Pouchitis",507,13,"0.5543677376628083"]
["C1836122","SARCOIDOSIS, EARLY-ONSET",507,13,"0.8004782025957944"]
["C1853438","INFLAMMATORY BOWEL DISEASE 5",507,13,"0.44261517234695835"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218"]
["C2931133","Pediatric Crohn\\'s disease",507,13,"0.4326116375734043"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944"]
["C4310620","YAO SYNDROME",507,13,"0.8004782025957944"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895"]
["C0151814","Coronary Occlusion",22,13,"0.7102161850041155"]
["C0151970","Ulcer of esophagus",22,13,"0.8079605355986446"]
["C0154830","Proliferative diabetic retinopathy",22,13,"0.4046215313223032"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684"]
["C0271084","Exudative age-related macular degeneration",22,13,"0.7292848099415582"]
["C0271178","Irvine-Gass Syndrome",22,13,"0.8079605355986446"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086"]
["C0730285","Diabetic macular edema",22,13,"0.5705128017554774"]
["C0741032","Refractory angina",22,13,"0.8079605355986446"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814"]
["C4068858","Avascular retina",22,13,"0.8079605355986446"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716"]
["C0521770","Asteroid hyalosis",6,13,"0.9640554617826333"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333"]
["C1858079","Osteoarthritis with Mild Chondrodysplasia",6,13,"0.9640554617826333"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333"]
["C4225273","SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",6,13,"0.9640554617826333"]
["C4302548","Dysspondyloenchondromatosis",6,13,"0.9640554617826333"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185"]
["C0221276","Relative erythrocytosis",1349,12,"0.9526266257878601"]
["C0272144","Erythrocytosis due to tissue hypoxemia",1349,12,"0.9526266257878601"]
["C0391869","Polycythemia due to excess erythopoetin production",1349,12,"0.9526266257878601"]
["C0541719","Stress polycythemia",1349,12,"0.9526266257878601"]
["C0865275","Polycythemia due to fall in plasma volume",1349,12,"0.9526266257878601"]
["C0865276","Polycythemia due to high altitude",1349,12,"0.9526266257878601"]
["C1837915","ERYTHROCYTOSIS, FAMILIAL, 2",1349,12,"0.9526266257878601"]
["C2674004","VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF",1349,12,"0.9526266257878601"]
["C2873823","Polycythemia due to erythropoietin",1349,12,"0.9526266257878601"]
["C2873824","Polycythemia due to stress",1349,12,"0.9526266257878601"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179"]
["C3149517","LARYNGOSPASM, SEVERE NEONATAL EPISODIC",773,12,"0.9993405043486447"]
["C3280112","MYASTHENIC SYNDROME, CONGENITAL, 16",773,12,"0.9993405043486447"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447"]
["C4023179","Paradoxical myotonia",773,12,"0.9993405043486447"]
["C4275008","Acetazolamide responsive myotonia",773,12,"0.9993405043486447"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465"]
["C0085411","Angiodysplasia",142,12,"0.8847564051189242"]
["C0267370","Angiodysplasia of colon",142,12,"0.8847564051189242"]
["C0272355","von Willebrand disease, type IIC",142,12,"0.8847564051189242"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459"]
["C3641106","Congenital Bleeding Disorder",142,12,"0.6644661926356533"]
["C0035312","Retinal Drusen",94,12,"0.9997606633874201"]
["C0151565","Hemorrhagic colitis",94,12,"0.9997606633874201"]
["C0235618","Proliferative glomerulonephritis",94,12,"0.9997606633874201"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749"]
["C0730314","Chronic central serous chorioretinopathy",94,12,"0.9997606633874201"]
["C0853888","Hypocomplementaemia",94,12,"0.9997606633874201"]
["C1268937","Diarrhea-negative hemolytic uremic syndrome",94,12,"0.9997606633874201"]
["C1533060","Multifocal choroiditis",94,12,"0.9997606633874201"]
["C1720452","Soft drusen",94,12,"0.9997606633874201"]
["C1853147","MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)",94,12,"0.9997606633874201"]
["C1856143","HEMOLYTIC UREMIC SYNDROME, TYPICAL",94,12,"0.9997606633874201"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634"]
["C0032749","Post-kala-azar dermal leishmaniasis",61,12,"0.5850735930557925"]
["C0043407","Yersinia infections",61,12,"0.9361544369942634"]
["C0085311","Diffuse cutaneous leishmaniasis",61,12,"0.9361544369942634"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667"]
["C0267541","Typhlocolitis",61,12,"0.9361544369942634"]
["C0948780","Rhinosinusitis",61,12,"0.9361544369942634"]
["C1719498","Generalized chronic periodontitis",61,12,"0.9361544369942634"]
["C1720795","Acute Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1720796","Asymptomatic Inflammatory Prostatitis",61,12,"0.9361544369942634"]
["C1720797","Chronic Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1723764","Chronic Prostatitis with Chronic Pelvic Pain Syndrome",61,12,"0.9361544369942634"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978"]
["C0270933","Inflammatory neuropathy",690,11,"0.3133082460602747"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744"]
["C4020904","Myelin tomacula",690,11,"0.9471990763674978"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844"]
["C0268276","Juvenile GM 2 gangliosidosis",600,11,"0.9980248121615493"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493"]
["C1848915","Gm2-Gangliosidosis, Adult Chronic Type",600,11,"0.9980248121615493"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493"]
["C1848917","Tay-Sachs Disease, Pseudo-AB Variant",600,11,"0.9980248121615493"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493"]
["C2874270","GM2-GANGLIOSIDOSIS, ADULT",600,11,"0.9980248121615493"]
["C0162281","Corneal deposit",528,11,"0.9998287549904908"]
["C0271285","Epithelial basement membrane dystrophy",528,11,"0.9998287549904908"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908"]
["C0544848","Dystrophy, granular",528,11,"0.9998287549904908"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908"]
["C2939149","Amyloid of cornea",528,11,"0.9998287549904908"]
["C0012736","Dissecting aortic aneurysm",450,11,"0.9962367115472965"]
["C0023316","Lens Subluxation",450,11,"0.9962367115472965"]
["C0410787","Hereditary Connective Tissue Disorder",450,11,"0.9962367115472965"]
["C0856747","Aneurysm of ascending aorta",450,11,"0.9962367115472965"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965"]
["C3280054","GELEOPHYSIC DYSPLASIA 2",450,11,"0.9962367115472965"]
["C3541518","ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",450,11,"0.9962367115472965"]
["C4021645","Recurrent abdominal hernia",450,11,"0.9962367115472965"]
["C4310796","MARFAN LIPODYSTROPHY SYNDROME",450,11,"0.9962367115472965"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993"]
["C0018204","Granulomatous prostatitis",103,11,"0.8735624215362114"]
["C0023351","Tuberculoid leprosy",103,11,"0.8735624215362114"]
["C0041466","Typhoid Fever",103,11,"0.8794987616039337"]
["C0151450","Secondary SjÃ¶gren\\'s syndrome",103,11,"0.8735624215362114"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114"]
["C0242993","Nephropathia Epidemica",103,11,"0.5736702590571869"]
["C0393847","Multifocal motor neuropathy",103,11,"0.8735624215362114"]
["C0409651","Seropositive rheumatoid arthritis",103,11,"0.22365038115559094"]
["C0577620","Nut Hypersensitivity",103,11,"0.8735624215362114"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114"]
["C3899281","Early Inflammatory Arthritis",103,11,"0.8735624215362114"]
["C0021295","Infant, Premature, Diseases",37,11,"0.742036900172199"]
["C0028841","Ocular Hypotension",37,11,"0.742036900172199"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199"]
["C0152105","Hypertensive heart disease",37,11,"0.742036900172199"]
["C0740447","Diabetic peripheral neuropathy",37,11,"0.742036900172199"]
["C0741949","Cardiovascular Pathology",37,11,"0.6705414037844284"]
["C1096293","Macroangiopathy",37,11,"0.48674500112538505"]
["C1135196","Heart Failure, Diastolic",37,11,"-0.2529024267279328"]
["C1301700","Cardiovascular morbidity",37,11,"0.24729745995444893"]
["C1533172","Infantile nystagmus syndrome",37,11,"0.742036900172199"]
["C2349195","Acute Anterior Wall Myocardial Infarction",37,11,"0.742036900172199"]
["C0043124","West Nile Fever",1482,10,"0.8920888999971543"]
["C0282312","Bubonic Plague",1482,10,"0.8940559888874083"]
["C0404521","Infective vaginitis",1482,10,"0.8940559888874083"]
["C0497169","hiv-infection/aids",1482,10,"0.6285070490394137"]
["C0751583","Encephalitis, West Nile Fever",1482,10,"0.8915316185351188"]
["C0751584","West Nile Fever Meningitis",1482,10,"0.8940559888874083"]
["C0751585","West Nile Fever Meningoencephalitis",1482,10,"0.8940559888874083"]
["C0751586","West Nile Fever Myelitis",1482,10,"0.8940559888874083"]
["C0948192","Primary infection NOS",1482,10,"0.31706770862955735"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083"]
["C0037023","Sialadenitis",1391,10,"0.9926755805495429"]
["C0157843","Infective arthritis of shoulder region",1391,10,"0.9991842395001611"]
["C0157844","Unspecified infective arthritis involving upper arm",1391,10,"0.9991842395001611"]
["C0157845","Unspecified infective arthritis involving forearm",1391,10,"0.9991842395001611"]
["C0157846","Unspecified infective arthritis involving hand",1391,10,"0.9991842395001611"]
["C0157847","Unspecified infective arthritis, pelvic region and thigh",1391,10,"0.9991842395001611"]
["C0157848","Unspecified infective arthritis involving lower leg",1391,10,"0.9991842395001611"]
["C0157849","Unspecified infective arthritis, ankle and foot",1391,10,"0.9991842395001611"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611"]
["C3151379","OKT4 EPITOPE DEFICIENCY",1391,10,"0.9991842395001611"]
["C0042842","Vitamin A Deficiency",1309,10,"-0.06260598941674932"]
["C0152455","Keratomalacia",1309,10,"0.7743075307898749"]
["C0271271","Xerotic keratitis",1309,10,"0.7743075307898749"]
["C0406481","Comedonal acne",1309,10,"0.7743075307898749"]
["C0856901","Retinol Deficiency",1309,10,"0.7743075307898749"]
["C3151228","RETINITIS PIGMENTOSA 38 (disorder)",1309,10,"-0.1846262653818366"]
["C3553016","Peripheral retinal atrophy",1309,10,"0.5935669506391431"]
["C3554593","RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",1309,10,"0.7743075307898749"]
["C4225330","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10",1309,10,"0.7743075307898749"]
["C4477027","Comedogenic acne",1309,10,"0.7743075307898749"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954"]
["C3150914","MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)",1143,10,"0.8880149060978981"]
["C3683791","Ataxia Neuropathy Spectrum",1143,10,"0.8880149060978981"]
["C4225153","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",1143,10,"0.8880149060978981"]
["C4225409","EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY",1143,10,"0.8880149060978981"]
["C4225440","EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",1143,10,"0.8880149060978981"]
["C0085541","Epilepsy, Frontal Lobe",1038,10,"0.7635039684443805"]
["C0393671","Frontal Epilepsy, Benign, Childhood",1038,10,"0.7113562741373897"]
["C0393683","Epilepsy, Supplementary Motor",1038,10,"0.7113562741373897"]
["C0393684","Epilepsy, Cingulate",1038,10,"0.7113562741373897"]
["C0393688","Epilepsy, Opercular",1038,10,"0.7113562741373897"]
["C0751642","Epilepsy, Anterior Fronto-Polar",1038,10,"0.7113562741373897"]
["C0751643","Epilepsy, Orbito-Frontal",1038,10,"0.7113562741373897"]
["C1838049","Epilepsy, Nocturnal Frontal Lobe, Type 1",1038,10,"0.12028915682573223"]
["C1854335","Epilepsy, Nocturnal Frontal Lobe, Type 3",1038,10,"0.11825610529682665"]
["C3696898","Autosomal Dominant Nocturnal Frontal Lobe Epilepsy",1038,10,"0.3706891001071476"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0"]
["C0238115","Boerhaave syndrome",1011,10,"1.0"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0"]
["C2675683","Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage",1011,10,"1.0"]
["C4302547","Dystrophic epidermolysis bullosa nails only",1011,10,"1.0"]
["C4511056","Centripetalis recessive dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C4518087","Acral dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C0016064","Fibrous Dysplasia, Monostotic",612,10,"0.8694170526648481"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904"]
["C0242292","McCune-Albright Syndrome",612,10,"0.858137083114479"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484"]
["C3697137","Fibrous dysplasia of bone with intramuscular myxoma",612,10,"0.8694170526648481"]
["C0026919","Mycobacterium Infections, Nontuberculous",523,10,"1.0"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0"]
["C0694566","Atypical Mycobacterial Infection, Disseminated",523,10,"1.0"]
["C1112429","Interferon gamma receptor deficiency",523,10,"1.0"]
["C1608955","Mycobacterium abscessus Infection",523,10,"1.0"]
["C2930924","Interferon gamma, receptor 1, deficiency",523,10,"1.0"]
["C3266863","Atypical Mycobacteriosis, Familial",523,10,"1.0"]
["C4011949","IMMUNODEFICIENCY 27A",523,10,"1.0"]
["C4014863","IMMUNODEFICIENCY 27B",523,10,"1.0"]
["C4288927","IFN-gamma Receptor 1 Deficiency",523,10,"1.0"]
["C0003907","Arthus Reaction",485,10,"0.6000971160313326"]
["C0014534","Epididymitis",485,10,"0.4276040266714033"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927"]
["C0398764","Complement Factor D Deficiency",485,10,"-0.19548728776622476"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484"]
["C0522274","Humoral immune defect",485,10,"0.7419300598689362"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362"]
["C3806660","Enteroviral dermatomyositis syndrome",485,10,"0.7419300598689362"]
["C4280547","Infected joint",485,10,"0.7419300598689362"]
["C1300256","Thanatophoric dysplasia, type 1",252,10,"0.9998494245230437"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437"]
["C1834928","Cloverleaf skull micromelia thoracic dysplasia",252,10,"0.9998494245230437"]
["C1851152","SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS",252,10,"0.9998494245230437"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437"]
["C2931282","Skeletal dysplasia, San Diego type",252,10,"0.9998494245230437"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024"]
["C0021845","Intestinal Perforation",163,10,"0.03238384849988696"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907"]
["C0162869","Aneurysm, Ruptured",163,10,"0.7581173950476024"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996"]
["C1257763","Overnutrition",163,10,"0.7525548746269481"]
["C1442839","Hypervitaminosis D",163,10,"0.73652669314996"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024"]
["C0011389","Dental Plaque",64,10,"1.0"]
["C0265101","Carotid artery occlusion",64,10,"1.0"]
["C0520574","Cerebrovascular amyloidosis",64,10,"1.0"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435"]
["C1856302","GSD IV, Nonprogressive Hepatic",1943,9,"0.9999178147408435"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435"]
["C1856306","GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy",1943,9,"0.9999178147408435"]
["C2936914","Cirrhosis, familial, with deposition of abnormal glycogen",1943,9,"0.9999178147408435"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738"]
["C1845117","Immunodeficiency without anhidrotic ectodermal dysplasia",1512,9,"0.9882351159840738"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738"]
["C2930820","Incontinentia pigmenti, familial male-lethal type",1512,9,"0.9882351159840738"]
["C4025314","Atrophic, patchy alopecia",1512,9,"0.9882351159840738"]
["C0007852","Cervical Migraine Syndrome",1398,9,"0.7501617077033723"]
["C0018984","Hemicrania migraine",1398,9,"0.7501617077033723"]
["C0042331","Migraine Variant",1398,9,"0.7160055476090497"]
["C0149931","Migraine Disorders",1398,9,"0.5559143549632166"]
["C0270858","Abdominal Migraine",1398,9,"0.7501617077033723"]
["C0338489","Status Migrainosus",1398,9,"0.7501617077033723"]
["C0521664","Acute Confusional Migraine",1398,9,"0.7501617077033723"]
["C0700438","Sick Headaches",1398,9,"0.7501617077033723"]
["C0744641","Intermittent migraine headaches",1398,9,"-0.32284017203017445"]
["C0865474","Parkinsonism or Parkinson\\'s disease NOS",1378,9,"1.0"]
["C0865475","Idiopathic Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C0865476","Primary Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C1399358","Hemiparkinsonism",1378,9,"1.0"]
["C1851957","Diffuse Lewy Body Disease with Gaze Palsy",1378,9,"1.0"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0"]
["C1868595","PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)",1378,9,"1.0"]
["C1868596","Atypical Parkinson Disease",1378,9,"1.0"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064"]
["C3151468","PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1",1206,9,"0.9863358600890064"]
["C3275750","ATRIOVENTRICULAR SEPTAL DEFECT 3",1206,9,"0.9863358600890064"]
["C4479619","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3",1206,9,"0.9863358600890064"]
["C1306122","Oguchi disease",1122,9,"0.3824593538729675"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303"]
["C3551052","Night blindness, stationary",1122,9,"0.7006168224170927"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019"]
["C0154674","Symptomatic torsion dystonia",1078,9,"0.9895425567163028"]
["C0154675","Fragments of torsion dystonia",1078,9,"0.9895425567163028"]
["C0393601","Idiopathic non-familial dystonia",1078,9,"0.9895425567163028"]
["C0477373","Other forms of migraine",1078,9,"0.9895425567163028"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543"]
["C1832903","MIGRAINE, SPORADIC HEMIPLEGIC",1078,9,"0.9737107402936381"]
["C4310716","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42",1078,9,"0.9895425567163028"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248"]
["C0546389","Hepatic periportal necrosis",1068,9,"0.9271356085439709"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644"]
["C3278154","GLUTARIC ACIDEMIA IIA",1068,9,"0.9134846171054567"]
["C3278155","GLUTARIC ACIDEMIA IIB",1068,9,"0.9105785627032866"]
["C3278156","GLUTARIC ACIDEMIA IIC",1068,9,"0.9154013645596661"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254"]
["C1861453","Pseudohyperkalemia Cardiff",1053,9,"0.6837302474041852"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636"]
["C1862323","Southeast Asian ovalocytosis",1053,9,"0.9297508291212638"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636"]
["C4022665","Isothenuria",1053,9,"0.9317019562839636"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885"]
["C4511230","Bathing suit ichthyosis",995,9,"0.4289803981348961"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761"]
["C0742468","Central nervous system lesion",740,9,"0.6383404306425577"]
["C0850741","Smoker\\'s lung",740,9,"0.4987757851787712"]
["C1167791","Skin toxicity",740,9,"0.5207036422508302"]
["C1512127","HER2 gene amplification",740,9,"0.21983729850888975"]
["C1559154","Rash and Dermatitis Adverse Event Associated with Chemoradiation",740,9,"0.055944302781270626"]
["C3266262","Multiple Chronic Conditions",740,9,"0.2803455268777472"]
["C3539781","Progressive cGVHD",740,9,"0.2558970703111747"]
["C4015130","INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",740,9,"0.6383404306425577"]
["C0270970","Reducing-body myopathy",734,9,"0.9800977569243934"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949"]
["C4225159","REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",734,9,"0.9800977569243934"]
["C4225423","REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",734,9,"0.9800977569243934"]
["C0025239","Melorheostosis",679,9,"0.9590810313320987"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987"]
["C2931505","Mixed sclerosing bone dystrophy",679,9,"0.9590810313320987"]
["C3149399","DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",679,9,"0.9590810313320987"]
["C3149631","MELORHEOSTOSIS, ISOLATED",679,9,"0.9590810313320987"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987"]
["C4305140","12q14 microdeletion syndrome",679,9,"0.7153201322878779"]
["C0158447","Idiopathic osteoporosis",572,9,"0.6786925250174957"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957"]
["C0432273","Worth disease",572,9,"0.6786925250174957"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957"]
["C1843330","OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",572,9,"0.6786925250174957"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612"]
["C1866176","EXUDATIVE VITREORETINOPATHY 4 (disorder)",572,9,"0.6786925250174957"]
["C1866180","Horizontal pendular nystagmus",572,9,"0.4673117248178364"]
["C4021951","Vertebral body sclerosis",572,9,"0.6786925250174957"]
["C0266491","Neuronal heterotopia",538,9,"0.4903918513767565"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175"]
["C1419610","RP23 gene",538,9,"0.5574660662561307"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497"]
["C1846175","SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)",538,9,"0.5574660662561307"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307"]
["C3554657","LISSENCEPHALY 5",538,9,"-0.021094451145836367"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665"]
["C1848214","Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia",489,9,"0.8633932514975425"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425"]
["C2748919","Frontootopalatodigital Osteodysplasia",489,9,"0.8633932514975425"]
["C3806579","CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",489,9,"0.8633932514975425"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962"]
["C1835677","Keratoconus 1",469,9,"0.9149467475944513"]
["C3280099","CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME",469,9,"0.9420761249132962"]
["C0272005","Hemoglobin Bart\\'s hydrops syndrome",216,9,"0.9471710886523605"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177"]
["C1845298","MENTAL RETARDATION, X-LINKED 52",216,9,"0.1610886461493762"]
["C2873754","Severe alpha thalassemia",216,9,"0.9615459918125817"]
["C2873755","Triple gene defect alpha thalassemia",216,9,"0.9615459918125817"]
["C3161173","Hemoglobin H Constant Spring",216,9,"0.9615459918125817"]
["C3161175","Hydrops fetalis due to alpha thalassemia",216,9,"0.9615459918125817"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304"]
["C0015702","Favism",166,9,"0.9068857450061543"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543"]
["C0272132","Drug-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0472790","Chronic non-spherocytic hemolytic anemia",166,9,"0.9068857450061543"]
["C0520572","Enzymopathy",166,9,"0.9007307631074732"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824"]
["C4021648","Fava bean-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0000880","Acanthamoeba Keratitis",93,9,"0.9238516356314508"]
["C0036685","Septicaemia due to gram-negative organism, unspecified",93,9,"0.533549232007681"]
["C0262380","Asymptomatic bacteriuria",93,9,"0.7177161229130913"]
["C0744471","Gram-negative bacteremia",93,9,"0.9238516356314508"]
["C1864267","Endotoxin Hyporesponsiveness",93,9,"0.9238516356314508"]
["C1969108","Macular Degeneration, Age-Related, 10",93,9,"0.9238516356314508"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C4049883","Obstructive Ureterocele",93,9,"0.9238516356314508"]
["C0024140","Lupus Erythematosus, Subacute Cutaneous",55,9,"0.7340179452623813"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421"]
["C0206178","Cytomegalovirus Retinitis",55,9,"0.9579441245933421"]
["C0276622","Acute viral hepatitis",55,9,"0.9579441245933421"]
["C0340354","Q fever endocarditis",55,9,"0.9579441245933421"]
["C0678201","Terminal Ileitis",55,9,"0.9579441245933421"]
["C2348101","Destructive Arthritis",55,9,"0.9579441245933421"]
["C3826604","Celiac disease in children",55,9,"0.9579441245933421"]
["C3890941","Acute Motor Axonal Neuropathy",55,9,"0.9579441245933421"]
["C0271355","Abducens Nerve Diseases",2,9,"1.0"]
["C1838492","SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)",2,9,"1.0"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0"]
["C4024611","Nonprogressive muscular atrophy",2,9,"1.0"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742"]
["C0154778","Myopia, Degenerative",2035,8,"0.012251863619428949"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894"]
["C1968742","Glycogen Storage Disease IIID",1944,8,"0.9933621163568894"]
["C2936915","Amylo-1,6-glucosidase deficiency",1944,8,"0.9933621163568894"]
["C3695006","GLYCOGEN STORAGE DISEASE, TYPE IIIb",1944,8,"0.9933621163568894"]
["C3695007","GLYCOGEN STORAGE DISEASE, TYPE IIIa",1944,8,"0.9933621163568894"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0024591","Malignant hyperpyrexia due to anesthesia",1732,8,"0.8286985703814619"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219"]
["C1840365","King Denborough syndrome",1732,8,"0.9533484815040281"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977"]
["C1861751","Minicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861752","Multicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693"]
["C1867717","SAPOSIN D (disease)",1697,8,"0.7169491968775693"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614"]
["C4023499","Generalized clonic seizures",1697,8,"0.6117026369525251"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779"]
["C0730309","Inherited optic neuropathy",1520,8,"0.8982322948388008"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008"]
["C3276549","OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",1520,8,"0.8969385499601228"]
["C4225163","MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)",1520,8,"0.8982322948388008"]
["C4275164","Autosomal dominant optic atrophy plus syndrome",1520,8,"0.8982322948388008"]
["C0751776","Atypical Inclusion-Body Disease",1484,8,"0.7621691076824937"]
["C0751777","Familial Progressive Myoclonic Epilepsy",1484,8,"0.7621691076824937"]
["C0751778","Myoclonic Epilepsies, Progressive",1484,8,"0.7065093991195834"]
["C0751779","Action Myoclonus-Renal Failure Syndrome",1484,8,"0.6416655202717283"]
["C0751780","Biotin-Responsive Encephalopathy",1484,8,"0.7621691076824937"]
["C0751781","Dentatorubral-Pallidoluysian Atrophy",1484,8,"0.7049757231816715"]
["C0751782","May-White Syndrome",1484,8,"0.7621691076824937"]
["C4021759","Generalized myoclonic seizures",1484,8,"-0.12495320563348299"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355"]
["C0265234","Branchio-Oto-Renal Syndrome",1283,8,"0.32868895541348697"]
["C0376524","Branchio-Oculo-Facial Syndrome",1283,8,"-0.21518455895815086"]
["C1865143","BRANCHIOOTIC SYNDROME 1",1283,8,"0.002523954174933355"]
["C1970479","Branchiootorenal Syndrome 2",1283,8,"0.370317925827299"]
["C3551443","ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT",1283,8,"0.12954276709962123"]
["C3714941","OTOFACIOCERVICAL SYNDROME 1",1283,8,"-0.35773093630492153"]
["C4023411","Hemifacial hypoplasia",1283,8,"0.13737215279501558"]
["C1832230","Peroxisome Biogenesis Disorder, Complementation Group 4",1186,8,"0.7408748471446291"]
["C1832231","Peroxisome Biogenesis Disorder, Complementation Group 6",1186,8,"0.7408748471446291"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209"]
["C3553538","BROWN-VIALETTO-VAN LAERE SYNDROME 2",1186,8,"-0.08228834986526815"]
["C3553936","PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)",1186,8,"0.7408748471446291"]
["C3553937","PEROXISOME BIOGENESIS DISORDER 4B",1186,8,"0.7408748471446291"]
["C4225267","HEIMLER SYNDROME 2",1186,8,"0.7408748471446291"]
["C1415817","HETEROTAXY, VISCERAL, 2, AUTOSOMAL",1133,8,"0.35958686099358655"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606"]
["C2931228","VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",1133,8,"0.1539267239679174"]
["C3151057","HETEROTAXY, VISCERAL, 4, AUTOSOMAL",1133,8,"0.224354478906329"]
["C3151867","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",1133,8,"0.6195813479742105"]
["C3553676","HETEROTAXY, VISCERAL, 6, AUTOSOMAL",1133,8,"0.47651770898072154"]
["C4274029","Biliary atresia with splenic malformation syndrome",1133,8,"-0.4702507365651105"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685"]
["C0039621","Tetany",1012,8,"-0.16127708372692812"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679"]
["C3151295","HYPOMAGNESEMIA 6, RENAL",1012,8,"0.7250818753428685"]
["C4225333","HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION",1012,8,"0.7250818753428685"]
["C4510731","Familial primary hypomagnesemia with normocalciuria and normocalcemia",1012,8,"0.6372231128137914"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728"]
["C0014800","Erythroid hyperplasia",880,8,"0.03757468942048783"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182"]
["C0678199","Anemia of inadequate production",880,8,"-0.1460776513473016"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393"]
["C4025183","Macrocytic dyserythropoietic anemia",880,8,"0.34625443344394524"]
["C4225179","COWDEN SYNDROME 7",880,8,"0.05101840833974681"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189"]
["C4024710","Cerebellar cortical atrophy",871,8,"-0.02246949520390459"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156"]
["C1860406","VITREORETINOCHOROIDOPATHY (disorder)",794,8,"0.99720921350546"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546"]
["C3888099","Autosomal dominant vitreoretinochoroidopathy",794,8,"0.99720921350546"]
["C3888198","BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",794,8,"0.99720921350546"]
["C1320640","Peripheral degeneration of retina",789,8,"0.7738615683297322"]
["C1837029","Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",789,8,"0.2913636212590398"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891"]
["C1868569","Patterned dystrophy of retinal pigment epithelium",789,8,"0.6979186189155734"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322"]
["C2751290","CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",789,8,"0.7738615683297322"]
["C4024776","Reticular retinal dystrophy",789,8,"0.7738615683297322"]
["C4509881","Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus",789,8,"0.7738615683297322"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295"]
["C0034040","Puerperal Disorders",755,8,"0.6139125893059771"]
["C0751230","Hypothalamic Dysfunction Syndromes",755,8,"0.6139125893059771"]
["C1449720","Adolescent Gynecomastia",755,8,"0.6139125893059771"]
["C1449721","Infant Gynecomastia",755,8,"0.6139125893059771"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677"]
["C1968746","Gangliosidosis, Generalized GM1, Late-Infantile Type",599,8,"0.9824472859306677"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062"]
["C0271690","Type 2 diabetes mellitus with acanthosis nigricans",477,8,"0.9994747439888062"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062"]
["C0342336","Insulin resistance - type A",477,8,"0.9994747439888062"]
["C1864952","Hyperinsulinemic Hypoglycemia, Familial, 5",477,8,"0.9994747439888062"]
["C1960636","Dysglycemia",477,8,"0.9994747439888062"]
["C0017412","Genital Diseases, Male",439,8,"0.9202045795626449"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603"]
["C0860159","Partial androgen resistance",439,8,"0.9202045795626449"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085"]
["C0013390","Dysmenorrhea",409,8,"0.08185048481770882"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124"]
["C0342394","Familial central diabetes insipidus",409,8,"0.7895683213028573"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514"]
["C0857122","Hyponatraemic",409,8,"0.7895683213028573"]
["C1136135","Water Stress",409,8,"0.7895683213028573"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227"]
["C0340542","Sporadic primary pulmonary hypertension",378,8,"0.9125811377145642"]
["C0340544","Pulmonary arterial hypertension induced by drug",378,8,"0.9125811377145642"]
["C2939447","Right ventricular failure",378,8,"0.9125811377145642"]
["C3697119","Pulmonary arterial hypertension associated with congenital heart disease",378,8,"0.9125811377145642"]
["C4020753","Intimal fibrosis",378,8,"0.9125811377145642"]
["C4023403","Arterial intimal fibrosis",378,8,"0.9125811377145642"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642"]
["C0016436","Folliculitis",376,8,"0.5053871022777267"]
["C1275091","Ichthyosis follicularis with alopecia and photophobia (IFAP)",376,8,"0.8949262044208534"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534"]
["C2936846","Scarring alopecia",376,8,"0.8949262044208534"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534"]
["C3806745","PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED",376,8,"0.8949262044208534"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019"]
["C2673610","JEB-I",354,8,"0.843119422344277"]
["C4021730","Junctional split",354,8,"0.5710134342670009"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521"]
["C0342342","Idiopathic Hypoparathyroidism",330,8,"0.8829785322146788"]
["C0342637","Hypocalciuric hypercalcemia, familial, type 1",330,8,"0.8194862211047983"]
["C0345406","Neonatal hyperparathyroidism",330,8,"0.875290707550721"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261"]
["C1840348","Hypocalciuric Hypercalcemia, Acquired",330,8,"0.875290707550721"]
["C0014550","Myoclonic Epilepsy",323,8,"0.929047905660524"]
["C0338478","Idiopathic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0338479","Symptomatic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0393695","Early Childhood Epilepsy, Myoclonic",323,8,"0.948420157376199"]
["C0393702","Myoclonic Astatic Epilepsy",323,8,"0.7046903013229593"]
["C0393703","Myoclonic Absence Epilepsy",323,8,"0.948420157376199"]
["C0438414","Myoclonic Encephalopathy",323,8,"0.948420157376199"]
["C0751120","Benign Infantile Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052"]
["C1846388","CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",290,8,"0.996806704898052"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521"]
["C4478700","FOCAL CORTICAL DYSPLASIA, TYPE IIA",290,8,"0.996806704898052"]
["C4478701","FOCAL CORTICAL DYSPLASIA, TYPE IIB",290,8,"0.996806704898052"]
["C4479708","FCD IIA",290,8,"0.996806704898052"]
["C4479709","FCD IIB",290,8,"0.996806704898052"]
["C0032326","Pneumothorax",280,8,"0.8223784713035205"]
["C0149781","Spontaneous pneumothorax",280,8,"0.9541762804677217"]
["C0264558","Tension Pneumothorax",280,8,"0.9728018405562604"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654"]
["C0546483","Lung cyst",280,8,"0.9728018405562604"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604"]
["C1868193","PNEUMOTHORAX, PRIMARY SPONTANEOUS",280,8,"0.9720243119326936"]
["C4275252","Familial spontaneous pneumothorax",280,8,"0.9728018405562604"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744"]
["C0043037","Common wart",233,8,"0.9921988893938744"]
["C0085694","Chronic cholecystitis",233,8,"0.9921988893938744"]
["C0747742","polyp benign",233,8,"0.9921988893938744"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613"]
["C4049993","Aristolochic Acid Nephropathy",233,8,"0.9921988893938744"]
["C0153252","Systemic candidiasis",192,8,"0.505143674358917"]
["C0269084","Vulvar Vestibulitis",192,8,"0.8612264497413841"]
["C0746883","Febrile Neutropenia",192,8,"0.35346716001502215"]
["C1320214","Invasive Streptococcus pneumoniae disease",192,8,"0.6468126028250947"]
["C1609535","Invasive Candidiasis",192,8,"0.8612264497413841"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315"]
["C3825879","Otitis media in children",192,8,"0.8612264497413841"]
["C3826128","Infection in children",192,8,"0.8612264497413841"]
["C0003081","Anisometropia",173,8,"0.8200369611986975"]
["C0030517","Parathyroid Diseases",173,8,"0.7276449660258347"]
["C0040046","Thrombophlebitis",173,8,"0.0255402408450929"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828"]
["C0030343","Panuveitis",69,8,"0.9384923708493668"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668"]
["C0729552","Genital infection",69,8,"0.9384923708493668"]
["C1328252","Mucocutaneous leishmaniasis",69,8,"0.9328875046648023"]
["C1609538","Latent Tuberculosis",69,8,"0.55470998528803"]
["C2350875","Constrictive Bronchiolitis",69,8,"0.8134100440183278"]
["C2350876","Bronchiolitis, Exudative",69,8,"0.9384923708493668"]
["C2350988","Bronchiolitis, Proliferative",69,8,"0.9384923708493668"]
["C0206064","Microvascular Angina",20,8,"0.9317240164920229"]
["C0242129","Thrombotic stroke",20,8,"0.9591944520707146"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519"]
["C1856058","HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",20,8,"0.9591944520707146"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496"]
["C0742191","Cervical spinal cord atrophy",1906,7,"0.7729275698293496"]
["C1847416","FRIEDREICH ATAXIA WITH RETAINED REFLEXES",1906,7,"0.7729275698293496"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402"]
["C3273225","Hereditary Neurodegenerative Disorder",1906,7,"0.595812236416077"]
["C4479491","LOPES-MACIEL-RODAN SYNDROME",1906,7,"-0.2961412440383463"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827"]
["C0348447","Other specified diabetes mellitus",1721,7,"1.0"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0"]
["C0473524","Postpancreatectomy hypoinsulinemia",1721,7,"1.0"]
["C2874124","Diabetes mellitus due to genetic defect in insulin action",1721,7,"1.0"]
["C2874125","Diabetes mellitus due to genetic defect in beta cell function",1721,7,"1.0"]
["C4290094","postprocedural diabetes mellitus",1721,7,"1.0"]
["C4290095","secondary diabetes mellitus NEC",1721,7,"1.0"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515"]
["C1504405","Pyramidal tract dysfunction",1639,7,"0.6368796863267676"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412"]
["C4013648","POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",1639,7,"0.7014987938469461"]
["C0270969","Zebra body myopathy",1568,7,"0.9874271886404451"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451"]
["C4225181","MYOPATHY, SCAPULOHUMEROPERONEAL",1568,7,"0.9874271886404451"]
["C0001621","Adrenal Gland Diseases",1517,7,"0.8524907839149616"]
["C0042131","Uterine Diseases",1517,7,"0.9744696903112824"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824"]
["C1720816","Endometrial Diseases",1517,7,"0.9744696903112824"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091"]
["C0086648","MPS III B",1514,7,"0.7005171555200794"]
["C0086649","MPS III C",1514,7,"0.6829832180569418"]
["C0086650","MPS III D",1514,7,"0.6024101198885113"]
["C4225287","RETINITIS PIGMENTOSA 73",1514,7,"0.3445245033785194"]
["C4225306","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",1514,7,"0.2715014461574377"]
["C0220987","Hereditary orotic aciduria",1374,7,"0.7065315829061334"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321"]
["C3278622","OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA",1374,7,"0.7065315829061334"]
["C4021731","Pyrimidine-responsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4025287","Folate-unresponsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4225320","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",1374,7,"-0.18329244150023455"]
["C1833369","OROFACIAL CLEFT 3",1280,7,"0.9967601029660361"]
["C1835894","Orofacial Cleft 9",1280,7,"0.9967601029660361"]
["C1842143","Orofacial Cleft 4",1280,7,"0.9967601029660361"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126"]
["C1864323","OROFACIAL CLEFT 2",1280,7,"0.9967601029660361"]
["C2748505","Orofacial Cleft 12",1280,7,"0.9967601029660361"]
["C3151222","OROFACIAL CLEFT 13",1280,7,"0.9967601029660361"]
["C0454641","Expressive language delay",1249,7,"0.03949497349468351"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712"]
["C4225255","YUAN-HAREL-LUPSKI SYNDROME",1249,7,"0.8444506671680055"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832"]
["C0156147","Crohn\\'s disease of large bowel",1029,7,"0.6170203836221173"]
["C0267380","Crohn\\'s disease of the ileum",1029,7,"0.6547814613509333"]
["C0678202","Regional enteritis",1029,7,"0.6591136699546444"]
["C0949272","IIeocolitis",1029,7,"0.6545885072337488"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721"]
["C1843173","Charcot-Marie-Tooth disease, Type 2H",969,7,"0.8612066799351721"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721"]
["C0393556","Complicated hereditary spastic paraplegia",963,7,"0.72249728201469"]
["C0521670","Cranial nerve compression",963,7,"-0.2237250598717857"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469"]
["C4021582","Distal peripheral sensory neuropathy",963,7,"0.6231008219355161"]
["C4225253","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",963,7,"0.72249728201469"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008"]
["C1843418","Niemann-Pick Disease, Type F",956,7,"0.9848973435834008"]
["C2675644","Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression",956,7,"0.9848973435834008"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754"]
["C0221271","Elastosis perforans serpiginosa",947,7,"0.17291487511306886"]
["C0238421","Selenium deficiency",947,7,"-0.3067286723565978"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535"]
["C2751067","Parkinsonism-Dystonia, Infantile",947,7,"0.1389614173800297"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304"]
["C2931642","Benign symmetrical lipomatosis",869,7,"0.8539929001192434"]
["C4025619","Peripheral axonal atrophy",869,7,"0.03204881303701446"]
["C4310725","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",869,7,"0.865759783759407"]
["C0157738","Chronic skin ulcer",799,7,"0.36881212157454607"]
["C0206141","Idiopathic Hypereosinophilic Syndrome",799,7,"0.8321346232469082"]
["C0206143","Loeffler\\'s Endocarditis",799,7,"0.8309972982949037"]
["C0263662","Disseminated eosinophilic collagen disease",799,7,"0.8417435364687668"]
["C0745091","Hypereosinophilia",799,7,"0.5766791817757657"]
["C1540912","Hypereosinophilic syndrome",799,7,"0.7655568201131454"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814"]
["C0030590","Paroxysmal supraventricular tachycardia",768,7,"0.9428429931621836"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892"]
["C0281788","Biventricular hypertrophy",768,7,"0.9428429931621836"]
["C0559106","Ventricular preexcitation",768,7,"0.9219172999954353"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914"]
["C1389102","Atrophy of the spinal cord",751,7,"0.537869109296383"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914"]
["C0019191","Infectious Canine Hepatitis",738,7,"1.0"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0"]
["C4013035","BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES",738,7,"1.0"]
["C4024975","Posterior leukoencephalopathy",738,7,"1.0"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705"]
["C0264789","Familial cardiomyopathy",731,7,"0.8191388975682928"]
["C1834481","CARDIOMYOPATHY, DILATED, 1S",731,7,"0.7107729389438642"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928"]
["C3150690","LEFT VENTRICULAR NONCOMPACTION 5",731,7,"0.8191388975682928"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928"]
["C0019624","Histiocytosis, Non-Langerhans-Cell",563,7,"0.9997076812797654"]
["C0878675","Erdheim-Chester Disease",563,7,"0.9982469751495253"]
["C1275336","Hashimoto-Pritzker syndrome",563,7,"0.9997076812797654"]
["C1402291","Pigmented lesions",563,7,"0.9997076812797654"]
["C1562010","Langerhans cell histiocytosis of lung",563,7,"0.9997076812797654"]
["C3150970","NOONAN SYNDROME 7",563,7,"0.9997076812797654"]
["C3150971","LEOPARD SYNDROME 3",563,7,"0.9997076812797654"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665"]
["C0281890","Laryngeal web",537,7,"0.5513991455619012"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361"]
["C4025208","Severe T-cell immunodeficiency",537,7,"0.4673363837780735"]
["C4540036","FRASER SYNDROME 2",537,7,"0.3853593638309096"]
["C0006848","Mucocutaneous candidiasis",524,7,"-0.07592702526490723"]
["C0032064","Plague",524,7,"0.6218490834498867"]
["C0040561","Ocular Toxoplasmosis",524,7,"0.11717401218752989"]
["C0343052","Guttate psoriasis",524,7,"-0.0854688567919862"]
["C0406317","Chronic small plaque psoriasis",524,7,"0.5041323683753064"]
["C1262117","Fungal keratitis",524,7,"0.6218490834498867"]
["C1609432","manifestations of immunopathology",524,7,"0.6218490834498867"]
["C0002438","Amebiasis",475,7,"0.7036637071355158"]
["C0013370","Amebic colitis",475,7,"0.7036637071355158"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158"]
["C3554225","LEPTIN RECEPTOR DEFICIENCY",475,7,"0.7126397460079514"]
["C0001916","Albinism",394,7,"0.08659321546951285"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933"]
["C3888401","ALBINISM, OCULOCUTANEOUS, TYPE V",394,7,"0.6377678052519968"]
["C0014548","Epilepsy, Generalized",326,7,"0.6191113348262938"]
["C0017332","Generalized Nonconvulsive Seizure Disorder",326,7,"0.9484384670829212"]
["C0086236","Epilepsy, Atonic",326,7,"0.9484384670829212"]
["C0086241","Epilepsy, Tonic",326,7,"0.9484384670829212"]
["C0270854","Symptomatic Generalized Epilepsy",326,7,"0.9479388859098604"]
["C0311334","Generalized convulsive epilepsy",326,7,"0.9484384670829212"]
["C0347869","Epilepsy, Akinetic",326,7,"0.9484384670829212"]
["C0348617","Other cardiomyopathies",240,7,"0.06765223003863212"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021"]
["C4014393","CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",240,7,"0.8644666438091182"]
["C0085084","Motor Neuron Disease",181,7,"0.3621454154929846"]
["C0154681","Anterior Horn Cell Disease",181,7,"0.8434165605709408"]
["C0154682","Lateral Sclerosis",181,7,"0.7355465095145428"]
["C0270763","Familial Motor Neuron Disease",181,7,"0.8621489647310797"]
["C0270764","Motor Neuron Disease, Lower",181,7,"0.8626323328967057"]
["C0521659","Motor Neuron Disease, Upper",181,7,"0.8621489647310797"]
["C0543858","Motor Neuron Disease, Secondary",181,7,"0.8621489647310797"]
["C0033999","Pterygium",178,7,"0.624708766534821"]
["C0042749","Viremia",178,7,"0.7067899325459075"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164"]
["C0206608","Flavivirus Infections",178,7,"0.8433191715886285"]
["C0524911","Hepatitis D, Chronic",178,7,"0.8433191715886285"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0398641","Epstein syndrome (disorder)",137,7,"0.9995844678655483"]
["C0403445","Fechtner syndrome (disorder)",137,7,"0.9995844678655483"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639"]
["C0340164","Lofgrens syndrome",104,7,"0.5970996544082956"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639"]
["C1304469","Localized vitiligo",104,7,"0.8822638238711639"]
["C0041105","Trismus",46,7,"0.5031468258950399"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823"]
["C0520758","Prolonged neuromuscular block",46,7,"0.8807519467495823"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382"]
["C1867467","Acholinesterasemia",46,7,"0.8807519467495823"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C1867470","Hypocholinesterasemia, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175"]
["C0235989","Renal interstitial fibrosis",8,7,"0.8435672662936633"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027"]
["C0878576","Posterior Leukoencephalopathy Syndrome",8,7,"0.9264770333850133"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133"]
["C3160858","Posterior reversible encephalopathy syndrome",8,7,"0.9264770333850133"]
["C0270765","Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0393541","Distal Spinal Muscular Atrophy",3,7,"0.7938015520840968"]
["C0393546","Oculopharyngeal Spinal Muscular Atrophy",3,7,"0.89837165731556"]
["C0751334","Progressive Proximal Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0751335","Scapuloperoneal Form of Spinal Muscular Atrophy",3,7,"0.23472395381758301"]
["C0917981","Progressive Muscular Atrophy",3,7,"0.8391124368502302"]
["C3661519","Hereditary Motor Neuronopathy",3,7,"0.89837165731556"]
["C0032371","Poliomyelitis",2192,6,"1.0"]
["C0555971","Oral infection",2192,6,"1.0"]
["C0751445","Encephalitis, Polio",2192,6,"1.0"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0"]
["C1527258","Infantile paralysis",2192,6,"1.0"]
["C0007862","Cervico-Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0085920","Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0221759","Brachial Plexus Neuritis",2138,6,"0.999916502869803"]
["C0700251","Brachial Plexus Neuropathies",2138,6,"0.999916502869803"]
["C1510479","Neuralgic Amyotrophy",2138,6,"0.999916502869803"]
["C1834304","AMYOTROPHY, HEREDITARY NEURALGIC",2138,6,"0.9995804126684312"]
["C0013447","Ear Diseases",2068,6,"0.9975842949713284"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693"]
["C4023720","Cystic lesions of the pinnae",2068,6,"0.9995167617141693"]
["C1843807","Basal ganglia disease, biotin-responsive",1880,6,"0.09961392733652241"]
["C1851915","Abnormal facial muscle tone",1880,6,"0.6973555473280061"]
["C4023011","Craniofacial dystonia",1880,6,"0.6973555473280061"]
["C4072883","Abnormal craniofacial posture",1880,6,"0.6973555473280061"]
["C4310634","DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",1880,6,"0.24201927626570696"]
["C4310743","STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",1880,6,"0.2752157980350304"]
["C0023009","Speech and language disorder",1869,6,"0.3117899244885336"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036"]
["C3281084","Congenital disorder of glycosylation type 1r",1869,6,"-0.1604413123167158"]
["C4021845","Oromotor apraxia",1869,6,"0.3874830477702107"]
["C4310833","INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN",1869,6,"0.11609787534550929"]
["C0206750","Coronavirus Infections",1846,6,"0.7293398185397326"]
["C0282687","Hemorrhagic Fever, Ebola",1846,6,"0.16044861831789892"]
["C0702135","Primary atypical pneumonia",1846,6,"0.8167081241366331"]
["C1412002","Atypical pneumonia",1846,6,"0.8167081241366331"]
["C3694279","Middle East Respiratory Syndrome",1846,6,"0.5768900183603317"]
["C4540188","NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",1846,6,"0.8167081241366331"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997"]
["C0151604","Genital edema",1819,6,"0.738826503950998"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998"]
["C4025182","Exercise-induced hemolysis",1819,6,"0.738826503950998"]
["C4225184","LYMPHEDEMA, HEREDITARY, III",1819,6,"0.738826503950998"]
["C4225242","DEHYDRATED HEREDITARY STOMATOCYTOSIS 2",1819,6,"-0.03416240762849514"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636"]
["C2939174","Medullary cystic disease",1609,6,"0.45796531755379355"]
["C3150877","SENIOR-LOKEN SYNDROME 7",1609,6,"0.5749325326275226"]
["C3889474","BARDET-BIEDL SYNDROME 16",1609,6,"-0.15177959363882892"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0"]
["C2749685","CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)",1567,6,"1.0"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0"]
["C4316899","Cystinosis",1567,6,"1.0"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383"]
["C0010823","Cytomegalovirus Infections",1534,6,"0.6755742786632634"]
["C0026918","Mycobacterium Infections",1534,6,"0.7287136674355542"]
["C0340639","Carotid artery aneurysm",1534,6,"0.8878052037818089"]
["C3151088","IMMUNODEFICIENCY 31B",1534,6,"0.8786081321831024"]
["C3279990","CANDIDIASIS, FAMILIAL, 7",1534,6,"0.8878052037818089"]
["C4013950","IMMUNODEFICIENCY 31A",1534,6,"0.8878052037818089"]
["C0154209","Hyperestrogenism",1516,6,"0.9920146521832814"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814"]
["C0853662","Oestrogen deficiency",1516,6,"0.9706426284991281"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814"]
["C1838780","Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease",1487,6,"1.0"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0"]
["C3280939","ATRIOVENTRICULAR SEPTAL DEFECT 5",1487,6,"1.0"]
["C3280943","ATRIAL SEPTAL DEFECT 9",1487,6,"1.0"]
["C3888085","PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",1487,6,"1.0"]
["C4012454","HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",1487,6,"1.0"]
["C0154822","Serous retinal detachment",1473,6,"0.28080632735466743"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605"]
["C3280205","RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",1473,6,"0.13086365991194404"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904"]
["C1527284","Dental Pulp Stone",1447,6,"0.929948550601483"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904"]
["C2750327","Hearing loss, sensorineural (high frequency)",1447,6,"0.9853361620923904"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904"]
["C0268559","Hyperglycinemia",1355,6,"0.2512969663981975"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0001890","Akinetic Petit Mal",1326,6,"0.8258188499216335"]
["C0014553","Absence Epilepsy",1326,6,"0.6375263018664784"]
["C0751124","Epilepsy, Absence, Atypical",1326,6,"0.8258188499216335"]
["C1838604","EPILEPSY, CHILDHOOD ABSENCE, 1",1326,6,"0.2716756322258953"]
["C4281785","Childhood Absence Epilepsy",1326,6,"0.8269372775744822"]
["C4317339","Juvenile Absence Epilepsy",1326,6,"0.8258188499216335"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659"]
["C1866505","Ichthyosis, Congenital, with Trichothiodystrophy",1293,6,"0.7387805067133496"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558"]
["C4024961","Metachromatic leukodystrophy variant",1293,6,"0.7387805067133496"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093"]
["C0238304","Chronic interstitial nephritis",1221,6,"0.5079926130781431"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736"]
["C3280598","SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",1221,6,"0.6435137564077629"]
["C3280612","NEPHRONOPHTHISIS 13",1221,6,"0.6435137564077629"]
["C3280616","CRANIOECTODERMAL DYSPLASIA 4",1221,6,"0.4321476416969241"]
["C4225376","SENIOR-LOKEN SYNDROME 8",1221,6,"0.6435137564077629"]
["C0741916","Cardiac defects",1211,6,"0.1695060358123374"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421"]
["C2931638","Chromosome 8, monosomy 8p23 1",1211,6,"0.8020305089104421"]
["C3280777","VENTRICULAR SEPTAL DEFECT 1",1211,6,"0.8020305089104421"]
["C3280781","ATRIOVENTRICULAR SEPTAL DEFECT 4",1211,6,"0.8020305089104421"]
["C3809858","TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE",1211,6,"0.8020305089104421"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497"]
["C3276096","ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS",1207,6,"0.7703110005684497"]
["C3280785","VENTRICULAR SEPTAL DEFECT 3",1207,6,"0.7703110005684497"]
["C3280795","HYPOPLASTIC LEFT HEART SYNDROME 2",1207,6,"0.602452932946423"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497"]
["C0156259","Hypertrophy of kidney",1198,6,"0.9755319573696319"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319"]
["C1842534","DYSTONIA 18 (disorder)",1198,6,"0.8296927339960722"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319"]
["C3149117","GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",1198,6,"0.9755319573696319"]
["C0342482","X-linked Adrenal Hypoplasia",1180,6,"0.458298165746049"]
["C0795887","Complex Glycerol Kinase Deficiency",1180,6,"0.8097284676200114"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095"]
["C1868690","Hypoadrenocorticism, familial",1180,6,"0.780931783419923"]
["C3887896","Primary Adrenal Insufficiency",1180,6,"0.626300617743963"]
["C4505291","Xp21 Contiguous Gene Deletion Syndrome",1180,6,"0.8097284676200114"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277"]
["C3549544","ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C4225331","46,XY SEX REVERSAL 10",1175,6,"0.967585231757277"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555"]
["C0949690","Spondylarthritis",1173,6,"0.7980260053315987"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567"]
["C3549874","METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY",1173,6,"0.9586769150749567"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227"]
["C0268121","APRT deficiency, Japanese type",1166,6,"0.7256790722110227"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535"]
["C1291390","Deficiency of phosphorylase kinase",1166,6,"0.7256790722110227"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713"]
["C0238062","Chronic intestinal pseudo-obstruction",1125,6,"0.8851738954991655"]
["C0266833","Visceral Myopathy, Familial",1125,6,"0.8851738954991655"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772"]
["C1835084","Megaduodenum and-or Megacystis",1125,6,"0.8823397396478201"]
["C1864996","Visceral Neuropathy, Familial, Autosomal Dominant",1125,6,"0.8851738954991655"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0"]
["C0033139","Primary Insomnia",1098,6,"1.0"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0"]
["C0751249","Chronic Insomnia",1098,6,"1.0"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936"]
["C0877017","Generalized tonic-clonic seizures with focal onset",1040,6,"0.24941196879596317"]
["C1850764","EPILEPSY, PROGRESSIVE MYOCLONIC 2B",1040,6,"0.8496640535115283"]
["C1850765","Visual auras",1040,6,"0.8592873956258936"]
["C4317153","Simple partial occipital seizures",1040,6,"0.8592873956258936"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887"]
["C1275345","Familial mastocytosis",1027,6,"0.7060233065158887"]
["C1837203","WAARDENBURG SYNDROME, TYPE IID",1027,6,"0.08207467360116744"]
["C4024848","Absent pigmentation of the ventral chest",1027,6,"0.6806030340524898"]
["C4509020","Isolated bone marrow mastocytosis",1027,6,"0.7060233065158887"]
["C0544008","Chandler syndrome",958,6,"0.6827524243787404"]
["C1611195","Congenital corneal dystrophy",958,6,"0.6297921518794525"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502"]
["C0028850","Ocular Motility Disorders",944,6,"1.0"]
["C1836217","Tukel syndrome",944,6,"1.0"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0"]
["C3808397","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",944,6,"1.0"]
["C4024789","Nonprogressive restrictive external ophthalmoplegia",944,6,"1.0"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269"]
["C2910340","Asphyxiating thoracic dysplasia [Jeune]",936,6,"0.09035794376709302"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499"]
["C1839022","Striatonigral Degeneration, Infantile, Mitochondrial",926,6,"0.9495225248828499"]
["C3275684","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",926,6,"0.9495225248828499"]
["C4225415","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",926,6,"0.7476245432308887"]
["C4225591","MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)",926,6,"0.9495225248828499"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235"]
["C1866751","Spinocerebellar tract degeneration",830,6,"0.14732935719479365"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0"]
["C1856491","Gaucher Disease, Type IIIa",825,6,"1.0"]
["C1856492","Gaucher Disease, Type IIIb",825,6,"1.0"]
["C1856493","Gaucher Disease, Norrbottnian Type",825,6,"1.0"]
["C2931585","Gaucher-like disease",825,6,"1.0"]
["C0398621","Hypoplasminogenemia",806,6,"1.0"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0"]
["C4225445","PLASMINOGEN DEFICIENCY, TYPE II",806,6,"1.0"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938"]
["C1828221","Non dystrophic myotonia",774,6,"0.5916309905416627"]
["C1959600","Obscure African cardiomyopathy",774,6,"0.86557682095558"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398"]
["C0494360","Lipodystrophy, not elsewhere classified",746,6,"0.3287782726532428"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944"]
["C1833308","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V",745,6,"-0.5162988033870547"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003"]
["C2608087","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB",745,6,"0.36126552597097733"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678"]
["C4021578","Chronic axonal neuropathy",745,6,"0.16708847183798495"]
["C0432418","Trisomy 21- mitotic nondisjunction mosaicism",724,6,"1.0"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0"]
["C3550789","THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",724,6,"1.0"]
["C3550856","ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",724,6,"1.0"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108"]
["C0025637","Methemoglobinemia",658,6,"0.35530870263789033"]
["C0272087","Congenital Methemoglobinemia",658,6,"0.7408610909015111"]
["C2749559","Methemoglobinemia, Type I",658,6,"0.8600842424357462"]
["C2749560","Methemoglobinemia, Type Ii",658,6,"0.8600842424357462"]
["C2749561","Nadh-Cytochrome B5 Reductase Deficiency, Type I",658,6,"0.8600842424357462"]
["C2749562","Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",658,6,"0.8600842424357462"]
["C0409896","Familial chondrocalcinosis",605,6,"0.8107807238763005"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566"]
["C0856830","Calcium pyrophosphate arthropathy",605,6,"0.8107807238763005"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214"]
["C3279807","CRANIOECTODERMAL DYSPLASIA 3",605,6,"0.7028732630561377"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305"]
["C3463992","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",592,6,"0.8317749686210503"]
["C0024214","Lymphangiectasis",530,6,"0.6760153254740777"]
["C0024236","Lymphedema",530,6,"-0.03265059806078997"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861"]
["C1313885","Hereditary edema of legs",530,6,"0.6760153254740776"]
["C1704423","Milroy Disease",530,6,"0.535007958582348"]
["C4014628","LYMPHEDEMA, HEREDITARY, ID",530,6,"0.36209830077269245"]
["C0543968","Cone dysfunction syndrome",476,6,"0.9195113948520234"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127"]
["C3151784","MACULAR DEGENERATION, X-LINKED ATROPHIC",476,6,"0.982799499958127"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216"]
["C2677565","AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)",438,6,"0.9826350552897193"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996"]
["C3148872","FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150169","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150171","FTLD-TDP, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819"]
["C0149778","Soft Tissue Infections",420,6,"0.9162993573373813"]
["C0264515","Pneumonia, Necrotizing",420,6,"0.9415573225512234"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234"]
["C1846131","Photosensitive tonic-clonic seizures",420,6,"0.9415573225512234"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175"]
["C3279392","PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C3279393","PXE, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C4531299","Premature occlusive vascular stenosis",393,6,"0.09607115322396818"]
["C0472761","Homozygous alpha thalassemia",366,6,"0.970112026302299"]
["C0475813","Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder",366,6,"0.9663750839256856"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999"]
["C0878520","beta Thalassemia, heterozygous",366,6,"0.8692861543865809"]
["C1260396","Alpha thalassemia intermedia",366,6,"0.970112026302299"]
["C3161174","Hemoglobin H Disease",366,6,"0.9066147473341469"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819"]
["C3150989","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",351,6,"0.9524686161520819"]
["C4024942","Late-onset muscular dystrophy",351,6,"0.7987897505255578"]
["C4225309","EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY",351,6,"0.9524686161520819"]
["C0221259","Trichiasis",348,6,"1.0"]
["C0395973","Recessive sensorineural hearing loss",348,6,"1.0"]
["C0452136","Conductive hearing loss, bilateral",348,6,"1.0"]
["C0478084","Other congenital ichthyosis",348,6,"1.0"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0"]
["C0029442","Osteomalacia",339,6,"0.005119648623869788"]
["C0235394","Wasting",339,6,"0.5685219587206719"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716"]
["C0393698","Cryptogenic Infantile Spasms",306,6,"0.9757643589272029"]
["C0393699","Symptomatic Infantile Spasms",306,6,"0.9757643589272029"]
["C0546878","Nodding spasm",306,6,"0.9757643589272029"]
["C0553558","Jackknife Seizures",306,6,"0.9757643589272029"]
["C1527306","spasmus nutans",306,6,"0.9757643589272029"]
["C1527366","Salaam Seizures",306,6,"0.8865591049575577"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984"]
["C1863391","Vogt Cephalodactyly",268,6,"0.9112906808164984"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239"]
["C3281247","BENT BONE DYSPLASIA SYNDROME",268,6,"0.9112906808164984"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723"]
["C0282193","Iron Overload",241,6,"-0.07758041863174105"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062"]
["C1858583","HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",241,6,"0.26468488753674224"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664"]
["C0000833","Abscess",222,6,"0.581505321423442"]
["C0268419","Acatalasia",222,6,"0.8911954096941628"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628"]
["C0033300","Progeria",184,6,"0.6345171388494887"]
["C0270254","Hydrops of placenta",184,6,"0.8972865878833377"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349"]
["C0685924","Adhesions of temporomandibular joint",184,6,"0.8972865878833377"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377"]
["C0011156","Deficiency Diseases",180,6,"0.36174723865131375"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244"]
["C0232197","Fibrillation",180,6,"0.21342216278468734"]
["C0270780","Degenerative myelopathy",180,6,"0.5159609591113244"]
["C3542025","AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",180,6,"0.1648685959396861"]
["C3825201","Mitochondrial pathology",180,6,"0.4423756692204582"]
["C0020595","Hypoaldosteronism",157,6,"0.1961937930001835"]
["C0268293","Corticosterone Methyl Oxidase Type I Deficiency",157,6,"0.5550612094891115"]
["C0376185","Hypoaldosteronism, Hyporeninemic",157,6,"0.5550612094891115"]
["C0701163","Adrenogenital disorder",157,6,"0.32536153033283927"]
["C3463917","Corticosterone Methyl Oxidase Type II Deficiency",157,6,"0.5550612094891115"]
["C3713420","Familial Hyperaldosteronism",157,6,"0.11995130846431504"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814"]
["C0041228","African Trypanosomiasis",156,6,"-0.05304669301863994"]
["C0085740","Mendelson Syndrome",156,6,"-0.14479271600563814"]
["C0340520","Athlete\\'s heart",156,6,"0.39154354883114173"]
["C1321756","Achalasia",156,6,"-0.20450268771115046"]
["C1867403","Pyloric Stenosis, Infantile Hypertrophic 1",156,6,"-0.3744174322734409"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396"]
["C2717961","Thrombotic Microangiopathies",134,6,"0.15056548950475487"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792"]
["C1096155","Macrophage Activation Syndrome",112,6,"0.4606583798699249"]
["C4015067","AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS",112,6,"0.46628036569364917"]
["C4015276","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4",112,6,"0.46628036569364917"]
["C4225218","AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",112,6,"-0.1117809686920282"]
["C0031069","Familial Mediterranean Fever",86,6,"0.9229180407194504"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013"]
["C0151859","Polyserositis",86,6,"0.9279116111185013"]
["C0585274","Periodic syndrome",86,6,"0.7999244510282996"]
["C1851347","Familial Mediterranean Fever, Autosomal Dominant",86,6,"0.9279116111185013"]
["C3267073","Autoinflammatory disease",86,6,"0.696311485670011"]
["C0019247","Hereditary Diseases",73,6,"0.8360101580381964"]
["C0037176","Single-Gene Defects",73,6,"0.8425313121540062"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593"]
["C1956089","Osteophyte",73,6,"0.5536156371508102"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926"]
["C0030499","Parasitic Diseases",66,6,"0.70907731445352"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742"]
["C0155880","Intrinsic asthma",66,6,"0.9266062655996742"]
["C0311368","Idiopathic eosinophilia",66,6,"0.9266062655996742"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742"]
["C1322281","Seasonal rhinitis",66,6,"0.9266062655996742"]
["C0235419","Hyperuricemic nephropathy",50,6,"0.997573961104989"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989"]
["C3280216","HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",50,6,"0.997573961104989"]
["C4020705","Glomerulocystic kidney disease",50,6,"0.99059824428434"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423"]
["C0235522","Disorder of vein",15,6,"0.9904669110156423"]
["C0749087","Thrombosis of subclavian vein",15,6,"0.9904669110156423"]
["C1853831","Bleeding Disorder, East Texas Type",15,6,"0.9904669110156423"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423"]
["C2584620","Thrombophilia, hereditary",15,6,"0.9353652690662111"]
["C0007177","Cardiac Tamponade",14,6,"0.729147014733889"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461"]
["C0085307","Embolism and Thrombosis",14,6,"0.443470289383963"]
["C0750949","Vertebrogenic Pain Syndrome",14,6,"0.7301506248948058"]
["C2676721","Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C2676722","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337"]
["C1838230","SPINAL MUSCULAR ATROPHY, TYPE IV",4,6,"0.6303982245856342"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495"]
["C0268241","Pancreatic colipase deficiency",2083,5,"1.0"]
["C3280527","PANCREATIC LIPASE DEFICIENCY",2083,5,"1.0"]
["C3280528","COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C3280529","LIPASE AND COLIPASE, DEFICIENCY OF",2083,5,"1.0"]
["C3280530","LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221"]
["C1840364","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",2019,5,"0.673654338282343"]
["C2937288","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",2019,5,"0.6748968612989924"]
["C2940786","Thyroid Hormone Resistance Syndrome",2019,5,"0.5561212833631795"]
["C3280817","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",2019,5,"0.0563628462130201"]
["C3489796","Thyroid Hormone Resistance, Generalized, Autosomal Recessive",2019,5,"0.6748968612989924"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496"]
["C1291560","Deficiency of glutamate decarboxylase",1995,5,"0.5501185709836273"]
["C1849508","EPILEPSY, PYRIDOXINE-DEPENDENT",1995,5,"0.4039462108640794"]
["C4014621","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25",1995,5,"0.2836531644246132"]
["C4310632","EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",1995,5,"0.2487001495425813"]
["C1850343","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME",1974,5,"0.5511721923257112"]
["C1864389","PREMATURE CHROMATID SEPARATION TRAIT",1974,5,"0.1419757855409024"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288"]
["C3279843","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",1974,5,"0.20760954377828894"]
["C4539839","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3",1974,5,"0.15638233159140782"]
["C0014378","Enterovirus Infections",1854,5,"0.010236797056306087"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567"]
["C3150876","COG5 congenital disorder of glycosylation",1854,5,"0.16907535155741946"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195"]
["C4511057","Congenital muscular dystrophy Paradas type",1851,5,"0.9965337209002978"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821"]
["C0022408","Arthropathy",1850,5,"0.3414743229593591"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914"]
["C1835039","Melanosis, Universal",1847,5,"0.8519229792530103"]
["C1840392","HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",1847,5,"0.8519229792530103"]
["C4225241","DEAFNESS, AUTOSOMAL DOMINANT 69",1847,5,"0.8519229792530103"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0"]
["C4015286","MACULAR DEGENERATION, EARLY-ONSET",1833,5,"1.0"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532"]
["C0264885","Myxoid transformation of mitral valve",1829,5,"0.8035512099629083"]
["C3554279","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",1829,5,"0.7956855749996385"]
["C4509918","Polyvalvular heart disease syndrome",1829,5,"0.8035512099629083"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336"]
["C0477506","Other specified nonscarring hair loss",1795,5,"0.6383419119718972"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464"]
["C2750815","Marie Unna Hereditary Hypotrichosis 1",1795,5,"0.8169625301232976"]
["C2931059","Marie Unna congenital hypotrichosis",1795,5,"0.7014044744662146"]
["C1859228","Cerebrohepatorenal Syndrome, Variant Types",1771,5,"1.0"]
["C3550234","PEROXISOME BIOGENESIS DISORDER 2B",1771,5,"1.0"]
["C3550273","PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)",1771,5,"1.0"]
["C3550274","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",1771,5,"1.0"]
["C4225237","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",1771,5,"1.0"]
["C0393912","Segmental Autonomic Dysfunction",1765,5,"1.0"]
["C0750944","Peripheral Autonomic Nervous System Diseases",1765,5,"1.0"]
["C0750945","Nervous System Diseases, Parasympathetic",1765,5,"1.0"]
["C0750946","Nervous System Diseases, Sympathetic",1765,5,"1.0"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674"]
["C0393577","Pallidal degeneration",1760,5,"0.5824712588268566"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387"]
["C3550973","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5",1760,5,"0.0008224967299390304"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364"]
["C3280113","NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",1753,5,"0.9455386127908967"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0"]
["C3151065","Cataract, Posterior Polar, 2",1747,5,"1.0"]
["C3151236","MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",1747,5,"1.0"]
["C3554649","CARDIOMYOPATHY, DILATED, 1II",1747,5,"1.0"]
["C3808377","CATARACT 16, MULTIPLE TYPES",1747,5,"1.0"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052"]
["C0265856","Hypoplasia of right heart",1735,5,"0.5925835487683471"]
["C0344963","Right hypoplastic heart syndrome",1735,5,"0.5925835487683471"]
["C4225164","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",1735,5,"0.5925835487683471"]
["C4225363","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",1735,5,"0.055851280077416444"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944"]
["C0221168","Podagra",1710,5,"0.8225380418005229"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959"]
["C0740394","Hyperuricemia",1710,5,"0.03535227515319863"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229"]
["C0403719","Uric acid urolithiasis",1709,5,"0.6422766674534127"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305"]
["C0221333","Hypouricemia",1708,5,"0.12946930590856384"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576"]
["C0744466","gout tophaceous",1708,5,"0.730238388189677"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677"]
["C2677551","GOUT SUSCEPTIBILITY 2",1708,5,"0.730238388189677"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655"]
["C0271007","Phthisis bulbi",1694,5,"0.1501664216321542"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465"]
["C0154748","Lesion of Sciatic Nerve",1685,5,"0.8539797045288393"]
["C0242013","Sciatic Neuritis",1685,5,"0.8539797045288393"]
["C0751924","Neuralgia-Neuritis, Sciatic Nerve",1685,5,"0.8539797045288393"]
["C0751925","Sciatic Nerve Palsy",1685,5,"0.8539797045288393"]
["C3809803","MICROPHTHALMIA, SYNDROMIC 12",1685,5,"0.38920436977425665"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526"]
["C1857390","Cystinuria, Type A-B",1676,5,"0.9745055476398384"]
["C1288283","Atrophoderma maculatum",1657,5,"0.08431152027243953"]
["C3281045","CONE-ROD DYSTROPHY 16",1657,5,"0.7784678986723551"]
["C3281046","RETINITIS PIGMENTOSA 64",1657,5,"0.7833253612152383"]
["C4049066","Retinal dystrophy with early macular involvement",1657,5,"0.7663194196614513"]
["C4319932","BARDET-BIEDL SYNDROME 21",1657,5,"0.7833253612152383"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295"]
["C1844412","Liver Glycogenosis, X-Linked, Type II",1644,5,"0.7599745654210066"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066"]
["C3694531","GLYCOGEN STORAGE DISEASE IXa1",1644,5,"0.7599745654210066"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106"]
["C3280266","NARCOLEPSY 7",1629,5,"-0.2147329552818631"]
["C4310800","SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",1629,5,"0.6853346079299106"]
["C3539010","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",1594,5,"1.0"]
["C3542026","PEROXISOME BIOGENESIS DISORDER 5B",1594,5,"1.0"]
["C3553940","PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)",1594,5,"1.0"]
["C3553941","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",1594,5,"1.0"]
["C3553942","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",1594,5,"1.0"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283"]
["C0002170","Alopecia",1559,5,"0.6232994225935022"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734"]
["C3554105","PERRAULT SYNDROME 2",1551,5,"0.24707933299286597"]
["C3808414","PERRAULT SYNDROME 3",1551,5,"0.31581968578772746"]
["C3809105","PERRAULT SYNDROME 4",1551,5,"0.5180309817283943"]
["C4310761","HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",1551,5,"0.31372328962368096"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355"]
["C3810230","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6",1501,5,"-0.04945486343765596"]
["C4020811","Length dependent motor neuropathy",1501,5,"0.4003814008500861"]
["C0023501","Leukemoid Reaction",1493,5,"0.5419678429417788"]
["C0259743","Autosomal recessive SCID",1493,5,"0.5419678429417788"]
["C0451694","Severe combined immunodeficiency with low or normal B-cell numbers",1493,5,"0.6248151313098189"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788"]
["C3809383","IMMUNODEFICIENCY 8",1493,5,"0.08153646319258152"]
["C1306557","Chronic venous insufficiency",1490,5,"0.4197229613425671"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787"]
["C4024769","Reticular pigmentary degeneration",1490,5,"0.8097167702994019"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932"]
["C3280203","WARBURG MICRO SYNDROME 3",1435,5,"-0.06258504762671371"]
["C3280214","WARBURG MICRO SYNDROME 2",1435,5,"0.23112283544863307"]
["C3810265","WARBURG MICRO SYNDROME 4",1435,5,"-0.06942722286925986"]
["C0267809","Cirrhosis, Cryptogenic",1431,5,"0.999597534729279"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232"]
["C1876166","Endemic Tyrolean Infantile Cirrhosis",1431,5,"0.9996601104552232"]
["C0009451","Communicating Hydrocephalus",1423,5,"0.8396907037589559"]
["C0270720","Hydrocephalus Ex-Vacuo",1423,5,"0.9282510595005322"]
["C0477432","Post-Traumatic Hydrocephalus",1423,5,"0.9282510595005322"]
["C0549423","Obstructive Hydrocephalus",1423,5,"0.8902721931853674"]
["C2936786","Aqueductal Stenosis",1423,5,"0.875456687988016"]
["C0155760","Rupture of artery",1420,5,"0.6702383025982454"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911"]
["C2936777","Nevo syndrome (disorder)",1420,5,"0.6160724138576151"]
["C4023719","Spontaneous rupture of the globe",1420,5,"0.6160724138576151"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952"]
["C0752196","Ballismus",1418,5,"0.8988442563550952"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075"]
["C1306229","Dyschromatosis universalis",1386,5,"0.9205461551351056"]
["C1836705","Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",1386,5,"0.9205461551351056"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992"]
["C3281027","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7",1386,5,"0.9205461551351056"]
["C3809394","DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3",1386,5,"0.9205461551351056"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988"]
["C0085293","Hepatitis E",1360,5,"0.32903898421665645"]
["C0276609","Acute type B viral hepatitis",1360,5,"0.6354784963878342"]
["C0520788","Posttransfusion viral hepatitis",1360,5,"0.49133120035388833"]
["C0814152","Viral hepatitis, type G",1360,5,"0.266753976030262"]
["C3839044","Compensated liver disease",1360,5,"0.4712488114866798"]
["C0152457","Kayser-Fleischer ring",1358,5,"0.33703077800327974"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783"]
["C4024907","Mixed demyelinating and axonal polyneuropathy",1358,5,"0.4261864154025783"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105"]
["C3809719","ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",1340,5,"0.704759334739796"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843"]
["C2910342","Inherited keratosis palmaris et plantaris",1205,5,"0.9758777861766843"]
["C2910343","Keratosis follicularis [Darier-White]",1205,5,"0.9758777861766843"]
["C4024891","Hyperkeratosis with erythema",1205,5,"0.9758777861766843"]
["C0342549","Familial Testotoxicosis",1189,5,"0.7986635229057605"]
["C1504412","Testotoxicosis",1189,5,"0.9446853246923097"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097"]
["C0001623","Adrenal gland hypofunction",1181,5,"-0.13489356862675858"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558"]
["C3151406","SPERMATOGENIC FAILURE 8",1181,5,"0.6890546489703558"]
["C4479664","ADRENAL INSUFFICIENCY, NR5A1-RELATED",1181,5,"0.6890546489703558"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383"]
["C0027121","Myositis",1129,5,"0.7716076278102184"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149"]
["C1839928","IRIS HYPOPLASIA WITH GLAUCOMA",1128,5,"0.961006916034191"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191"]
["C1866561","Glaucoma Iridogoniodysplasia, Familial",1128,5,"0.961006916034191"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191"]
["C0264694","Chronic myocardial ischemia",1118,5,"0.0008821836519978632"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466"]
["C1837839","CARDIOMYOPATHY, DILATED, 1O",1118,5,"0.7584832467371466"]
["C3279695","ATRIAL FIBRILLATION, FAMILIAL, 12",1118,5,"0.7584832467371466"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696"]
["C1861306","Synostosis of Talus and Calcaneus with Short Stature",1108,5,"0.9539326140162592"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592"]
["C3714899","SYMPHALANGISM, PROXIMAL, 1A",1108,5,"0.933751820815308"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749"]
["C3150987","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",1036,5,"0.7853360683812317"]
["C4023515","Dialeptic seizures",1036,5,"0.8967851343553571"]
["C4049830","Focal seizures, afebril",1036,5,"0.8967851343553571"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0"]
["C1852587","EPILEPSY, BENIGN NEONATAL, 1",1035,5,"1.0"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0"]
["C3149074","SEIZURES, BENIGN FAMILIAL NEONATAL, 1",1035,5,"1.0"]
["C3149075","SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",1035,5,"1.0"]
["C0152216","Esophoria",1016,5,"1.0"]
["C1836929","Emanuel syndrome",1016,5,"1.0"]
["C1861129","Takao VCF Syndrome",1016,5,"1.0"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0"]
["C3150966","Supernumerary der(22)t(8"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293"]
["C0029191","Orchitis",1002,5,"0.22429933198955482"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258"]
["C0149745","Oral Ulcer",1002,5,"-0.02283327277077203"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656"]
["C1096274","Corneal thinning",974,5,"0.6577658267875326"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861"]
["C0015456","Facial Dermatoses",941,5,"1.0"]
["C0015704","Favre-Racouchot Syndrome",941,5,"1.0"]
["C0343097","Nodular Elastoidosis",941,5,"1.0"]
["C3151189","C9 Deficiency",941,5,"1.0"]
["C3810042","MACULAR DEGENERATION, AGE-RELATED, 15",941,5,"1.0"]
["C0149841","Benign recurrent intrahepatic cholestasis",930,5,"-0.21421721799221513"]
["C0268312","Progressive intrahepatic cholestasis (disorder)",930,5,"0.19100678841023794"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125"]
["C0742395","Cholestasis, chronic",930,5,"0.046384677680306186"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329"]
["C1864567","CATARACT, POSTERIOR POLAR, 4 (disorder)",917,5,"0.9202954405633545"]
["C1970386","Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",917,5,"0.9202954405633545"]
["C3808029","CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES",917,5,"0.9202954405633545"]
["C4305131","Cataract glaucoma syndrome",917,5,"0.9202954405633545"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658"]
["C3278148","BERNARD-SOULIER SYNDROME, TYPE A1",900,5,"0.935479939014467"]
["C0270733","Striatonigral Degeneration",886,5,"0.63782679517134"]
["C0393911","Pure Autonomic Failure",886,5,"0.6358882719830289"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372"]
["C3551954","COENZYME Q10 DEFICIENCY, PRIMARY, 1",886,5,"0.596994348389225"]
["C0238590","Acrogeria",836,5,"0.917843561336474"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474"]
["C1853365","AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1",836,5,"0.917843561336474"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765"]
["C1858154","CARDIOMYOPATHY, DILATED, 1I",832,5,"0.8344094586458832"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757"]
["C3809137","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R",832,5,"0.8344094586458832"]
["C0085623","Akinesia",821,5,"0.12382033685444625"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023"]
["C4225367","MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"0.18646269144342278"]
["C4225368","MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"-0.13461018234663405"]
["C1836694","Striatal Degeneration, Autosomal Dominant",820,5,"1.0"]
["C3280094","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",820,5,"1.0"]
["C4022417","Degeneration of the striatum",820,5,"1.0"]
["C4024947","Symmetric lesions of the basal ganglia",820,5,"1.0"]
["C4310808","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",820,5,"1.0"]
["C1449718","Endocrine Breast Diseases",816,5,"1.0"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0"]
["C1851879","Cleft Lip with or without Cleft Palate, Nonsyndromic, 8",816,5,"1.0"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612"]
["C0264906","Second degree atrioventricular block",788,5,"0.955702896673057"]
["C3554018","SINOATRIAL NODE DYSFUNCTION AND DEAFNESS",788,5,"0.955702896673057"]
["C3809609","PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",788,5,"0.955702896673057"]
["C4023501","Focal myoclonic seizures",788,5,"0.955702896673057"]
["C0008525","Choroideremia",784,5,"0.005265973717552532"]
["C0344297","Choroidal sclerosis",784,5,"0.5706909950367378"]
["C1536451","Central areolar choroidal sclerosis",784,5,"0.08872272413980947"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146"]
["C2931258","Amaurosis congenita of Leber, type 1",784,5,"0.32651852497600636"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668"]
["C1955768","Potassium sensitive periodic paralysis",771,5,"0.999680409462536"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536"]
["C2875318","Myotonic periodic paralysis (familial)",771,5,"0.999680409462536"]
["C2875319","Normokalemic paralysis (familial)",771,5,"0.999680409462536"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966"]
["C0271683","Polyneuropathy, Motor",752,5,"0.6097223738829489"]
["C0393851","Polyneuropathy, Critical Illness",752,5,"0.6954672334595603"]
["C0751448","Polyneuropathy, Familial",752,5,"0.7015166355769995"]
["C0751449","Acquired Polyneuropathy",752,5,"0.6954672334595603"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0"]
["C0018022","Endemic goiter",678,5,"0.622590013900868"]
["C0302859","Euthyroid Goiter",678,5,"0.8190903156047202"]
["C0342208","Multinodular goiter",678,5,"0.6026990144130777"]
["C1846034","Euthyroid multinodular goiter",678,5,"0.8674578999222015"]
["C4053514","Nasal Chondromesenchymal Hamartoma",678,5,"0.8674578999222015"]
["C0151861","Porphyruria",677,5,"0.9634850647942104"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103"]
["C0342860","Homozygous variegate porphyria",677,5,"0.9634850647942104"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885"]
["C3149848","VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT",677,5,"0.9634850647942104"]
["C0272315","Coagulation factor deficiency syndrome",639,5,"0.4016372355927287"]
["C0272323","Moderate hereditary factor VIII deficiency disease",639,5,"0.6706288898742829"]
["C0472801","Hemophilia A carrier",639,5,"0.7816274237700827"]
["C1096116","Acquired haemophilia",639,5,"0.8585073024109673"]
["C2873785","Deficiency of factor V [labile]",639,5,"0.8585073024109673"]
["C0151281","Genital ulcers",626,5,"1.0"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0"]
["C1865371","SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",626,5,"1.0"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0"]
["C1865373","SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",626,5,"1.0"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767"]
["C0477324","Other combined immunodeficiencies",625,5,"0.5070714535312029"]
["C1832322","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",625,5,"0.7021714179644835"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772"]
["C0023003","Langer-Giedion Syndrome",619,5,"0.6029616457186685"]
["C0265255","Trichorhinophalangeal syndrome",619,5,"0.8493397346442323"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162"]
["C1860826","Coxa Magna",619,5,"0.9269340348085162"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692"]
["C4022179","Stenosis of the medullary cavity of the long bones",615,5,"0.47691330616982575"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747"]
["C0021099","Impetigo",596,5,"0.7394560861547314"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775"]
["C0036285","Scarlet Fever",596,5,"0.7394560861547314"]
["C0036689","Streptococcal sore throat",596,5,"0.4528640899527099"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842"]
["C1291314","Deficiency of monooxygenase",594,5,"0.638464011983188"]
["C1291557","Deficiency of lyase",594,5,"0.8755887536869028"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017"]
["C4329212","17-Alpha-Hydroxylase/17,20 Lyase Deficiency",594,5,"0.8972134193349166"]
["C0043325","Xanthomatosis",584,5,"-0.28826065805726636"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334"]
["C0302314","Xanthoma",584,5,"0.23136353835168352"]
["C4280602","Xanthelasma of periocular region",584,5,"0.38020978048416476"]
["C0004608","Retinopathy background",579,5,"0.5498824121417797"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859"]
["C0423361","Posterior Vitreous Detachment",579,5,"0.2491610862225742"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708"]
["C4072980","Exudative vitreoretinopathy",579,5,"0.6501299474582313"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054"]
["C3887937","CONE DYSTROPHY 5, X-LINKED",569,5,"0.6526334772650098"]
["C3887938","COLORBLINDNESS, PARTIAL, DEUTAN SERIES",569,5,"0.6411923191078364"]
["C0024586","Malignant Carcinoid Syndrome",542,5,"1.0"]
["C0342777","Succinate-coenzyme Q reductase deficiency",542,5,"1.0"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0"]
["C3532243","Fatal infantile mitochondrial cardiomyopathy",542,5,"1.0"]
["C3554516","COWDEN SYNDROME 3",542,5,"1.0"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587"]
["C0239816","Hand eczema",529,5,"0.8374027201381419"]
["C1304345","Occupational irritant contact dermatitis",529,5,"0.8520279601616959"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959"]
["C3662483","Allergic sensitization",529,5,"0.36999745758899866"]
["C0857069","Chronic candidiasis",526,5,"1.0"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458"]
["C0019295","Inguinal Hernia, Direct",496,5,"1.0"]
["C0019296","Inguinal Hernia, Indirect",496,5,"1.0"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0"]
["C2674876","LOEYS-DIETZ SYNDROME, TYPE 1B",496,5,"1.0"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899"]
["C0333997","Lymphoid hyperplasia",486,5,"0.4251036218063374"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244"]
["C0281967","Retinal infarction",471,5,"0.9949322243477006"]
["C1846837","Aortic Aneurysm, Familial Thoracic 2",471,5,"0.9949322243477006"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447"]
["C3151201","MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME",471,5,"0.9949322243477006"]
["C3279690","MOYAMOYA DISEASE 5",471,5,"0.9949322243477006"]
["C0012819","Diverticular disease of colon",459,5,"0.3302093137892965"]
["C0149754","Cellulitis of periorbital region",459,5,"0.3207606961331051"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293"]
["C4025788","Nystagmus-induced head nodding",459,5,"0.4324756212869811"]
["C0021933","Intussusception",442,5,"0.1303982126527871"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964"]
["C0282207","Cronkhite-Canada Syndrome",442,5,"0.7870149386653003"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682"]
["C1333088","Colonic hamartomatous polyps",442,5,"0.7870149386653003"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383"]
["C0175708","Chronic rheumatic heart disease",421,5,"0.7649934920516644"]
["C0543698","Hypersensitive syndrome",421,5,"0.6531657451922412"]
["C2363973","Chronic thromboembolic pulmonary hypertension",421,5,"0.7649934920516644"]
["C3697982","Pulmonary arterial hypertension associated with connective tissue disease",421,5,"0.7649934920516644"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077"]
["C1866121","Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive",404,5,"0.9118170574071562"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333"]
["C2700265","Waardenburg Syndrome Type 2",397,5,"0.038494415989644315"]
["C2700405","WAARDENBURG SYNDROME, TYPE IIE",397,5,"0.7457627395862221"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832"]
["C1504404","Hippocampal sclerosis",377,5,"0.08852767818615044"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466"]
["C3539123","CEROID LIPOFUSCINOSIS, NEURONAL, 11",377,5,"0.8127624006985731"]
["C4022574","Limb apraxia",377,5,"0.8127624006985731"]
["C4275079","Posterior cortical atrophy syndrome",377,5,"0.8127624006985731"]
["C0270951","Ocular muscular dystrophy",375,5,"0.9975255625889035"]
["C2875311","Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy",375,5,"0.9975255625889035"]
["C2875312","Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]",375,5,"0.9975255625889035"]
["C2875313","Severe [Duchenne] muscular dystrophy",375,5,"0.9897582487876501"]
["C3264046","Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber",375,5,"0.9975255625889035"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365"]
["C4021534","Adult onset sensorineural hearing impairment",350,5,"0.6684020847974365"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815"]
["C3151038","ACNE INVERSA, FAMILIAL, 3",344,5,"0.9996247206634815"]
["C3160720","Cardiomyopathy, Dilated, 1u",344,5,"0.9996247206634815"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208"]
["C2829265","DEAFNESS, AUTOSOMAL RECESSIVE 86",327,5,"0.9411293476366208"]
["C3809173","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16",327,5,"0.6826169017122271"]
["C3892048","DEAFNESS, AUTOSOMAL DOMINANT 65",327,5,"0.9411293476366208"]
["C0023600","Leydig cell hyperplasia",308,5,"0.9936041361873322"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322"]
["C0342386","Follicle stimulating hormone deficiency",308,5,"0.9936041361873322"]
["C0403824","Teratozoospermia",308,5,"0.9753882553379186"]
["C1856716","Follicle-stimulating hormone deficiency, isolated",308,5,"0.9927611091750643"]
["C0394004","Congenital non-progressive ataxia",285,5,"0.9487477937836131"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585"]
["C4274987","Spinocerebellar ataxia type 29",285,5,"0.9487477937836131"]
["C0221405","Pituitary cachexia",283,5,"0.9999999999999991"]
["C0271577","Isolated gonadotropin deficiency",283,5,"0.9999999999999991"]
["C0342381","Idiopathic growth hormone deficiency",283,5,"0.9999999999999991"]
["C2874188","Isolated deficiency of pituitary hormone",283,5,"0.9999999999999991"]
["C2874190","Pituitary short stature",283,5,"0.9999999999999991"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785"]
["C0008058","Chilblains",206,5,"1.0"]
["C0275544","Congenital infectious disease",206,5,"1.0"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0"]
["C3150315","AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",206,5,"1.0"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953"]
["C1835875","Normocytic hypoplastic anemia",203,5,"0.997303787706911"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103"]
["C0341047","Hypertrophy of parotid gland",174,5,"0.9983831783696103"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306"]
["C0221028","Neonatal thrombocytopenia (disorder)",133,5,"0.8635815007906218"]
["C0598221","Hereditary protein C deficiency",133,5,"0.8635815007906218"]
["C2585959","Homozygous protein C deficiency",133,5,"0.8635815007906218"]
["C2585960","Heterozygous protein C deficiency",133,5,"0.8635815007906218"]
["C0014733","Erysipelas",120,5,"0.0994620986398351"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498"]
["C4012050","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1",120,5,"0.7817917811240498"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537"]
["C0031106","Periodontitis, Juvenile",96,5,"0.9124733506672643"]
["C0600298","Periodontosis",96,5,"0.9774677082030622"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074"]
["C0155616","Secondary hypertension",49,5,"0.8223626374010304"]
["C0264638","Low-renin essential hypertension",49,5,"0.8223626374010304"]
["C0264641","Endocrine hypertension",49,5,"0.8223626374010304"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368"]
["C4511620","Autosomal dominant tubulointerstitial kidney disease",49,5,"0.1442801985459706"]
["C0730278","Severe nonproliferative diabetic retinopathy",43,5,"0.9843506110917806"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806"]
["C3554321","BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",43,5,"0.9843506110917806"]
["C4225270","KOSAKI OVERGROWTH SYNDROME",43,5,"0.9843506110917806"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414"]
["C1852242","Nonarteritic anterior ischemic optic neuropathy (NAION)",41,5,"0.8646401604930963"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694"]
["C4024935","Subcortical dementia",41,5,"0.8646401604930963"]
["C2584611","Hereditary protein S deficiency",35,5,"1.0"]
["C3278211","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",35,5,"1.0"]
["C3281092","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",35,5,"1.0"]
["C3502051","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",35,5,"1.0"]
["C3502052","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",35,5,"1.0"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282"]
["C0027013","Myeloid Metaplasia",33,5,"0.6234898378908553"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282"]
["C4022560","Splanchnic vein thrombosis",33,5,"0.6234898378908553"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398"]
["C0338573","Cerebral venous sinus thrombosis",18,5,"0.8268104579573398"]
["C3203356","Factor II deficiency",18,5,"0.8268104579573398"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582"]
["C0268123","Muscle AMP deaminase deficiency",2139,4,"0.7930888377878672"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834"]
["C3714933","MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY",2139,4,"0.549760968191284"]
["C0162677","Caliciviridae Infections",2117,4,"1.0"]
["C0206044","Infections, Calicivirus",2117,4,"1.0"]
["C2712971","Enteritis due to Norovirus",2117,4,"1.0"]
["C3534585","Infection caused by Norovirus",2117,4,"1.0"]
["C0477729","Other chronic tubulo-interstitial nephritis",2104,4,"1.0"]
["C1392616","Nonobstructive chronic pyelonephritis NOS",2104,4,"1.0"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0"]
["C3553774","INTERSTITIAL NEPHRITIS, KARYOMEGALIC",2104,4,"1.0"]
["C0154207","Other specified disorders of adrenal gland",2093,4,"1.0"]
["C0271749","Abnormality of cortisol-binding globulin",2093,4,"1.0"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0"]
["C1969107","Corticosteroid-Binding Globulin, Elevated",2093,4,"1.0"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0"]
["C3887992","THYROTROPIN-RELEASING HORMONE DEFICIENCY",2066,4,"1.0"]
["C0014556","Epilepsy, Temporal Lobe",2052,4,"0.6995476836933364"]
["C0014558","Uncinate Epilepsy",2052,4,"0.90625446164869"]
["C0393672","Epilepsy, Benign Psychomotor, Childhood",2052,4,"0.90625446164869"]
["C0393682","Epilepsy, Lateral Temporal",2052,4,"0.9057152939271543"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433"]
["C0009088","Cluster Headache",2026,4,"0.10847072985948918"]
["C0854739","Advanced sleep phase",2026,4,"0.7471456632218765"]
["C0854740","Delayed sleep phase",2026,4,"0.7471456632218765"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259"]
["C0265241","Franceschetti-Klein syndrome",2006,4,"0.5350980980337097"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804"]
["C3150983","TREACHER COLLINS SYNDROME 2",2006,4,"0.18259377074664826"]
["C4225305","LEUKODYSTROPHY, HYPOMYELINATING, 11",2006,4,"0.43718790385001804"]
["C1834659","Muscular dystrophy, limb-girdle, type 1A",2002,4,"1.0"]
["C1836607","MYOTILINOPATHY",2002,4,"1.0"]
["C1866785","Spheroid body myopathy",2002,4,"1.0"]
["C3714934","MYOPATHY, MYOFIBRILLAR, 3",2002,4,"1.0"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195"]
["C4479357","ANAUXETIC DYSPLASIA 2",1965,4,"0.20955860028436096"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0"]
["C3150681","CARDIOMYOPATHY, DILATED, 1R",1955,4,"1.0"]
["C3150682","LEFT VENTRICULAR NONCOMPACTION 4",1955,4,"1.0"]
["C1864171","Peroxisome Biogenesis Disorder, Complementation Group 12",1937,4,"1.0"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0"]
["C3553999","PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)",1937,4,"1.0"]
["C4479254","PEROXISOME BIOGENESIS DISORDER 10B",1937,4,"1.0"]
["C0040820","Trematode Infections",1925,4,"0.18360826675399552"]
["C0151740","Intracranial Hypertension",1925,4,"-0.006788146055624757"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284"]
["C3810212","JOUBERT SYNDROME 21",1902,4,"-0.0016848070386000556"]
["C4084822","JOUBERT SYNDROME 23",1902,4,"0.5096217763521104"]
["C4225286","SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",1902,4,"0.5096217763521104"]
["C4518774","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",1902,4,"0.5516313445750163"]
["C0014544","Epilepsy",1901,4,"0.5069372905650225"]
["C0086237","Epilepsy, Cryptogenic",1901,4,"0.5300347625933439"]
["C0543888","Epileptic encephalopathy",1901,4,"-0.028323523327071172"]
["C0751111","Awakening Epilepsy",1901,4,"0.5298326275394245"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878"]
["C1864902","Hyperinsulinemic hypoglycemia, familial, 7",1872,4,"0.8835242099319878"]
["C1864904","Exercise-induced hyperinsulinism",1872,4,"0.6838780716446347"]
["C4015186","MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY",1872,4,"0.8835242099319878"]
["C0029410","Osteoarthritis of hip",1871,4,"0.6120331263438924"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982"]
["C1851537","Fairbank disease",1871,4,"0.8840146461282982"]
["C1851538","Epiphyseal Dysplasia, Ribbing Type",1871,4,"0.8840146461282982"]
["C0015652","Fascioliasis",1867,4,"0.6277408674588577"]
["C0268576","Hyperleucinemia",1867,4,"0.3830044297417646"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182"]
["C1847555","Hyperinsulinemic hypoglycemia, familial, 6",1867,4,"0.3830044297417646"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787"]
["C1834330","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",1858,4,"0.4806017775377787"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749"]
["C4024765","Peripapillary chorioretinal atrophy",1858,4,"0.6666053456996756"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324"]
["C3809004","CATARACT 19, MULTIPLE TYPES",1841,4,"0.2355600140911948"]
["C3888097","CATARACT 21, MULTIPLE TYPES",1841,4,"0.4010445085297324"]
["C4021568","Cortical pulverulent cataract",1841,4,"0.6346485928827926"]
["C0152439","Retinoschisis",1820,4,"0.9186218991170633"]
["C0271091","Retinoschisis, Juvenile, X-Linked",1820,4,"0.967418984468633"]
["C1137478","Retinoschisis, Degenerative",1820,4,"0.9750308190586006"]
["C3714753","RETINOSCHISIS 1, X-LINKED, JUVENILE",1820,4,"0.9726649304899302"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0"]
["C1861826","Cataract, Nuclear Total",1817,4,"1.0"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0"]
["C3805412","CATARACT 41",1817,4,"1.0"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959"]
["C3541471","MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",1809,4,"0.9878541601856959"]
["C0280962","Bone Marrow Suppression",1796,4,"1.0"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0"]
["C0948168","Bone marrow toxicity",1796,4,"1.0"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968"]
["C1846148","Sketetal dysplasia coarse facies mental retardation",1788,4,"0.9741494579900968"]
["C3151753","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6",1788,4,"0.9244309229690109"]
["C0017574","Gingivitis",1748,4,"0.04739206181505732"]
["C0037856","Spermatic Cord Torsion",1748,4,"0.6181679809665507"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469"]
["C3809210","EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",1748,4,"0.43588492187803807"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0"]
["C3149009","DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",1746,4,"1.0"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0"]
["C0271514","Low frequency deafness",1745,4,"0.347282503437948"]
["C0452138","Sensorineural hearing loss, bilateral",1745,4,"-0.20938443561920492"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353"]
["C4225261","SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",1745,4,"0.44422495207280704"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728"]
["C3551716","CORTISONE REDUCTASE DEFICIENCY 1",1729,4,"0.16236178820229905"]
["C3553382","CORTISONE REDUCTASE DEFICIENCY 2",1729,4,"0.5058751906815325"]
["C4329210","11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency",1729,4,"0.5058751906815325"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695"]
["C0262404","Cerebellar degeneration",1722,4,"0.7031135972786946"]
["C0740279","Cerebellar atrophy",1722,4,"0.7005062606470862"]
["C4020873","Infratentorial atrophy",1722,4,"0.6978889253026573"]
["C1840061","SMALL PATELLA SYNDROME",1717,4,"1.0"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0"]
["C3150607","CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME",1717,4,"1.0"]
["C3150880","CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME",1717,4,"1.0"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856"]
["C1863998","Peroxisome Biogenesis Disorder, Complementation Group 9",1681,4,"0.9927955443639027"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419"]
["C3553959","PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)",1681,4,"0.9927955443639027"]
["C3553960","PEROXISOME BIOGENESIS DISORDER 8B",1681,4,"0.9927955443639027"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615"]
["C4304537","2p21 microdeletion syndrome",1675,4,"0.45075156801676186"]
["C4479088","MYASTHENIC SYNDROME, CONGENITAL, 22",1675,4,"0.19642155432468647"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124"]
["C0268322","Chester-type porphyria",1673,4,"0.998639274498678"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838"]
["C1853576","Diamond-Blackfan Anemia With Microtia And Cleft Palate",1662,4,"0.3801539584392106"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562"]
["C4225411","DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C4225422","DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174"]
["C3808977","CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4",1652,4,"0.513711257906384"]
["C3539168","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",1638,4,"0.9950495777552114"]
["C3553950","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",1638,4,"0.9983473780603996"]
["C3553951","PEROXISOME BIOGENESIS DISORDER 7B",1638,4,"0.9983473780603996"]
["C3888385","PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)",1638,4,"0.9983473780603996"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673"]
["C4310710","PEELING SKIN SYNDROME 5",1634,4,"0.19567187405639985"]
["C0085661","Onycholysis",1633,4,"0.024481775884359718"]
["C1840299","Hypotrichosis Simplex of Scalp",1633,4,"0.3757649689346729"]
["C3151432","HYPOTRICHOSIS 3",1633,4,"0.5011821529645496"]
["C3554117","ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",1633,4,"0.5011821529645496"]
["C0038395","Streptococcal Infections",1632,4,"0.869913117644807"]
["C0477316","Other specified coagulation defects",1632,4,"0.9667125729033856"]
["C2752081","ALPHA-2-PLASMIN INHIBITOR DEFICIENCY",1632,4,"0.9667125729033856"]
["C3489734","Anti-plasmin deficiency, congenital",1632,4,"0.9667125729033856"]
["C0235927","Vestibulocerebellar ataxia",1631,4,"0.6508862232903943"]
["C1837007","DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C3149566","DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C4015050","DEAFNESS, AUTOSOMAL RECESSIVE 103",1631,4,"0.2208888695984414"]
["C0454455","Mirror movements disorder",1630,4,"0.19435850177653452"]
["C3281089","MIRROR MOVEMENTS 2",1630,4,"0.40235211863948145"]
["C4284093","FANCONI ANEMIA, COMPLEMENTATION GROUP R",1630,4,"0.40235211863948145"]
["C4479640","GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2",1630,4,"0.02990250378864007"]
["C0342776","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency",1618,4,"0.25523039551124216"]
["C1838979","MITOCHONDRIAL COMPLEX I DEFICIENCY",1618,4,"0.6897253478517794"]
["C1855020","Acute necrotizing encephalopathy",1618,4,"0.583536851355696"]
["C2936907","NADH:Q(1) Oxidoreductase deficiency",1618,4,"0.6809300075488732"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577"]
["C3280182","ADAMS-OLIVER SYNDROME 2",1612,4,"0.11945273048497816"]
["C3809092","ADAMS-OLIVER SYNDROME 4",1612,4,"0.14968814822119603"]
["C4225271","ADAMS-OLIVER SYNDROME 6",1612,4,"0.1448909977210813"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583"]
["C3807327","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",1607,4,"0.20439008138949824"]
["C3808874","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",1607,4,"0.18234632393097386"]
["C4225169","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",1607,4,"0.1608018100036085"]
["C0270612","Leukoencephalopathies",1606,4,"0.1354334035343468"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693"]
["C1858991","Childhood Ataxia with Central Nervous System Hypomyelinization",1606,4,"0.6702942031271522"]
["C2960129","Vanishing white matter disease",1606,4,"0.5511014316085664"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985"]
["C2673883","RENAL-HEPATIC-PANCREATIC DYSPLASIA",1582,4,"0.5605354023863534"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294"]
["C3715199","RENAL-HEPATIC-PANCREATIC DYSPLASIA 1",1582,4,"0.8928033303679691"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601"]
["C0276096","Mastitis-metritis-agalactia syndrome",1556,4,"0.9271554973832203"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636"]
["C0271165","Punctate cataract",1542,4,"0.47328110646957205"]
["C1832175","Cataract, Congenital, Cerulean Type, 2",1542,4,"-0.10506018421842693"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205"]
["C4023734","Sutural cataract",1542,4,"0.0"]
["C0034067","Pulmonary Emphysema",1528,4,"0.8699255454217851"]
["C0221227","Centriacinar Emphysema",1528,4,"0.9580362960754452"]
["C0264393","Panacinar Emphysema",1528,4,"0.9590502617079391"]
["C2350878","Focal Emphysema",1528,4,"0.9580362960754452"]
["C0014799","Erythroderma, Maculopapular",1505,4,"0.9999999999999991"]
["C0030437","Parakeratosis Variegata",1505,4,"0.9999999999999991"]
["C0030491","Parapsoriasis",1505,4,"0.9999999999999991"]
["C0162442","Parapsoriasis en Plaques",1505,4,"0.9999999999999991"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772"]
["C1261175","Pontoneocerebellar hypoplasia",1477,4,"0.3620903754809383"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736"]
["C3553449","PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",1477,4,"0.1990711850354729"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051"]
["C3150596","MONONEUROPATHY OF THE MEDIAN NERVE, MILD",1475,4,"0.4310433328408051"]
["C4082197","Charcot-Marie-Tooth disease type 4",1475,4,"0.554045516085599"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517"]
["C4020854","Neuro-degenerative disease",1464,4,"0.23052351604307295"]
["C0003851","Arteriosclerosis Obliterans",1452,4,"0.7908589129385872"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488"]
["C0157743","Vibratory urticaria",1448,4,"1.0"]
["C0473546","Vibratory angioedema",1448,4,"1.0"]
["C1852145","Familial dermographism",1448,4,"1.0"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0"]
["C3278481","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",1439,4,"0.12812216106623717"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314"]
["C4015388","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",1439,4,"0.01222619684657216"]
["C4225362","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",1439,4,"0.17655159511533985"]
["C3150275","COMPLEMENT COMPONENT 2 DEFICIENCY",1438,4,"0.20347883136266592"]
["C3809653","MACULAR DEGENERATION, AGE-RELATED, 14",1438,4,"0.7300673201333486"]
["C3809654","MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF",1438,4,"0.7300673201333486"]
["C3809950","COMPLEMENT FACTOR B DEFICIENCY",1438,4,"0.13172921248628428"]
["C0795830","CHROMOSOME 9p DELETION SYNDROME",1428,4,"1.0"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0"]
["C0472792","Hemolytic anemia due to hexokinase deficiency",1426,4,"1.0"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0"]
["C3150343","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",1426,4,"1.0"]
["C4479526","RETINITIS PIGMENTOSA 79",1426,4,"1.0"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996"]
["C0002886","Anemia, Macrocytic",1397,4,"0.3596136155223349"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096"]
["C4021821","Abnormality of the urinary system",1397,4,"0.6598239688072091"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605"]
["C1260873","Aortic valve disorder",1387,4,"0.5755500314962895"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152"]
["C4014970","ADAMS-OLIVER SYNDROME 5",1387,4,"0.5428075822644881"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011"]
["C0243010","Viral Encephalitis",1385,4,"0.8925961896938558"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558"]
["C0242423","Ramsay Hunt Paralysis Syndrome",1380,4,"0.847252628185406"]
["C0752097","Autosomal Dominant Juvenile Parkinson Disease",1380,4,"0.847252628185406"]
["C0752098","Autosomal Dominant Parkinsonism",1380,4,"0.6879675453470102"]
["C0752104","Familial Juvenile Parkinsonism",1380,4,"0.847252628185406"]
["C1846862","PARKINSON DISEASE 8 (disorder)",1377,4,"0.5166910906744966"]
["C3489791","Parkinson Disease, Familial, Type 1",1377,4,"0.2767184953457182"]
["C4274355","Autosomal dominant late onset Parkinson disease",1377,4,"0.2586934111035029"]
["C4511452","Sporadic Parkinson disease",1377,4,"0.4095633351858349"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891"]
["C2931320","T cell immunodeficiency primary",1371,4,"0.9912778369672891"]
["C4310768","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",1371,4,"0.9912778369672891"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375"]
["C0341706","Glycinuria",1356,4,"0.24134093454127567"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186"]
["C0311298","Propionic acidemia, type II",1354,4,"0.8538448295626059"]
["C1306587","Acute encephalopathy",1354,4,"0.5554581171325069"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859"]
["C3281138","CHROMOSOME 17q12 DELETION SYNDROME",1350,4,"0.6331844510250144"]
["C1832244","CARDIOMYOPATHY, DILATED, 1C (disorder)",1348,4,"1.0"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0"]
["C3152137","LEFT VENTRICULAR NONCOMPACTION 3",1348,4,"1.0"]
["C4225414","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",1348,4,"1.0"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622"]
["C0002878","Anemia, Hemolytic",1319,4,"0.7722862154642667"]
["C0002879","Anemia, Hemolytic, Acquired",1319,4,"0.9263136988199357"]
["C0002889","Anemia, Microangiopathic",1319,4,"0.9247417218838393"]
["C0221021","Microangiopathic hemolytic anemia",1319,4,"0.9206458597140103"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646"]
["C0740896","Hypokalemic hypochloremic metabolic alkalosis",1304,4,"0.2844724550683174"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696"]
["C4310805","BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",1304,4,"0.5707009785019546"]
["C0014549","Tonic-Clonic Epilepsy",1299,4,"0.9694464538022375"]
["C0751117","Cryptogenic Tonic-Clonic Epilepsy",1299,4,"0.9897204555042906"]
["C0751118","Epilepsy, Tonic-Clonic, Familial",1299,4,"0.9897204555042906"]
["C0751119","Epilepsy, Tonic-Clonic, Symptomatic",1299,4,"0.9897204555042906"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601"]
["C1861178","Thrombocytopenia Paris-Trousseau type",1276,4,"0.9959254730538218"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218"]
["C4479515","BLEEDING DISORDER, PLATELET-TYPE, 21",1276,4,"0.9959254730538218"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272"]
["C1968845","Primary Lateral Sclerosis, Adult, 1",1273,4,"0.7604457615061272"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132"]
["C0406369","Lichen planus pemphigoides",1265,4,"0.9523254888813999"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999"]
["C4304724","Late-onset junctional epidermolysis bullosa",1265,4,"0.9523254888813999"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525"]
["C1847582","Lipodystrophy with Congenital Cataracts and Neurodegeneration",1258,4,"1.0"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0"]
["C3807567","PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME",1258,4,"1.0"]
["C3809192","PULMONARY HYPERTENSION, PRIMARY, 3",1258,4,"1.0"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442"]
["C3553264","JOUBERT SYNDROME 17",1233,4,"0.545036801201581"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189"]
["C1857821","LEBER CONGENITAL AMAUROSIS 10 (disorder)",1224,4,"0.9772479626927189"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383"]
["C4020790","Medullary sponge kidney disease",1222,4,"0.5796980971608529"]
["C4024644","Multiple small medullary renal cysts",1222,4,"0.5796980971608529"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631"]
["C3279722","MYOPATHY, DISTAL, 4",1218,4,"0.9968577079381988"]
["C4310748","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",1218,4,"0.9968577079381988"]
["C4310749","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",1218,4,"0.9968577079381988"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897"]
["C1862391","ASD I",1210,4,"0.9349126180414541"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541"]
["C1862393","ASD II",1210,4,"0.9349126180414541"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683"]
["C3250443","MYOTONIC DYSTROPHY 1",1208,4,"0.49368672418271026"]
["C0596131","audiogenic seizure",1193,4,"0.7869541890541861"]
["C1401084","Ovarian Insufficiency",1193,4,"0.5846286681209663"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563"]
["C3275521","CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME",1193,4,"0.7869541890541861"]
["C0040963","Tricuspid Valve Stenosis",1192,4,"0.6368290335248984"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853"]
["C3278147","GELEOPHYSIC DYSPLASIA 1",1192,4,"0.03254268110472885"]
["C0015708","Fazio-Londe Syndrome",1187,4,"0.8789814120223987"]
["C0030442","Progressive bulbar palsy",1187,4,"0.8789814120223987"]
["C0393540","Childhood Progressive Bulbar Palsy",1187,4,"0.8789814120223987"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863"]
["C0432470","46, XY female",1178,4,"0.6651249785936851"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012"]
["C0342841","Hunter\\'s syndrome, severe form",1176,4,"0.9998335879055861"]
["C0342842","Hunter\\'s syndrome, mild form",1176,4,"0.9998335879055861"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861"]
["C1860752","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",1160,4,"0.9892816288917842"]
["C1861861","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)",1160,4,"0.9683061203126658"]
["C2678474","CARDIOMYOPATHY, DILATED, 2A (disorder)",1160,4,"0.9892816288917842"]
["C2750091","Cardiomyopathy, Dilated, 1FF",1160,4,"0.9892816288917842"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209"]
["C0034362","Q Fever",1152,4,"0.9999999999999998"]
["C0519066","Acute Q fever",1152,4,"0.9999999999999998"]
["C1443892","Chronic Q Fever",1152,4,"0.9999999999999998"]
["C2973787","Coxiella burnetii Infection",1152,4,"0.9999999999999998"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468"]
["C2827469","Coronary Microvascular Disease",1150,4,"0.71346407156482"]
["C0342782","Depletion of mitochondrial DNA",1142,4,"0.5537493321779642"]
["C3149750","MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)",1142,4,"0.897339513924786"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786"]
["C4310734","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",1142,4,"0.897339513924786"]
["C0003756","Arenaviridae Infections",1141,4,"1.0"]
["C0205671","Infections, Arenavirus",1141,4,"1.0"]
["C3714509","Nutrition Disorders",1141,4,"1.0"]
["C4225219","IMMUNODEFICIENCY 46",1141,4,"1.0"]
["C0007193","Cardiomyopathy, Dilated",1138,4,"0.5573060417302593"]
["C0264886","Conduction disorder of the heart",1138,4,"0.3898556667639416"]
["C0340427","Familial dilated cardiomyopathy",1138,4,"0.36060005547372864"]
["C1449563","Cardiomyopathy, Familial Idiopathic",1138,4,"0.0031474371698796706"]
["C0030328","Panniculitis, Nodular Nonsuppurative",1137,4,"0.9099145068384988"]
["C0039841","Thiamine Deficiency",1137,4,"0.7563350547642427"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645"]
["C0022578","Keratoconus",1121,4,"0.1752792905172218"]
["C0028077","Night Blindness",1121,4,"0.06556981725310781"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101"]
["C0339527","Leber Congenital Amaurosis",1120,4,"0.614613666104317"]
["C0375206","Hemiplegia/hemiparesis",1120,4,"0.28613392330803156"]
["C1301509","Severe visual impairment",1120,4,"0.5081365186465451"]
["C3540662","Congenital Amaurosis of Retinal Origin",1120,4,"0.35544780678837085"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757"]
["C0852654","21-hydroxylase deficiency",1119,4,"0.6383699403167985"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757"]
["C4273964","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1119,4,"0.8788701999033757"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795"]
["C3711390","9q22.3 Microdeletion",1114,4,"0.9795969719383795"]
["C0155285","Orbital cyst",1113,4,"0.318931892986822"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822"]
["C4540342","JOUBERT SYNDROME 32",1113,4,"0.20405210589652178"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0"]
["C3151202","LEBER CONGENITAL AMAUROSIS 8",1093,4,"1.0"]
["C4072868","Paravenous chorioretinal atrophy",1093,4,"1.0"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975"]
["C4305155","Isolated autosomal dominant hypomagnesemia Glaudemans type",1083,4,"0.99792108950975"]
["C3149378","IMMUNODEFICIENCY, COMMON VARIABLE, 1",1071,4,"0.3055805201478008"]
["C3277428","Severe viral infections",1071,4,"0.4669578382140786"]
["C3809991","IMMUNODEFICIENCY, COMMON VARIABLE, 10",1071,4,"0.3055805201478008"]
["C4014617","IMMUNODEFICIENCY 24",1071,4,"0.17048051471309186"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879"]
["C4225365","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",1061,4,"0.9551660346730506"]
["C4274081","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1061,4,"0.9551660346730506"]
["C4303593","DEND syndrome",1061,4,"0.9551660346730506"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561"]
["C4025285","Microspherocytosis",1049,4,"0.9101178765476561"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512"]
["C0391957","idiopathic epilepsy",1037,4,"0.11579113947359684"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972"]
["C1842564","Temporal epilepsy, familial",1037,4,"0.7776603817177512"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969"]
["C3277723","JOUBERT SYNDROME 12",1022,4,"0.946143372501969"]
["C3279899","Hydrolethalus Syndrome 2",1022,4,"0.946143372501969"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233"]
["C1866339","Preaxial Hallucal Polydactyly",1020,4,"-0.08921202085428967"]
["C3554247","CARPENTER SYNDROME 2",1020,4,"0.4232457986339482"]
["C4020889","Cornela disease",1020,4,"0.07721152036680853"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384"]
["C3266101","22q11 partial monosomy syndrome",1013,4,"0.8701801956520172"]
["C4024912","Occipital myelomeningocele",1013,4,"0.8693693476693937"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774"]
["C0035333","Retinitis",1003,4,"0.7450760583596704"]
["C0154874","Neuroretinitis",1003,4,"0.9052517448587774"]
["C3203733","Precordial Catch Syndrome",1003,4,"0.9052517448587774"]
["C0343239","Benign congenital hypotonia",994,4,"0.4019925104659892"]
["C1655035","congenital muscle disorder",994,4,"0.4019925104659892"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167"]
["C0795878","Monosomy 22",986,4,"0.9157211381818925"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925"]
["C2985524","Rhabdoid Tumor Predisposition Syndrome",986,4,"0.9157211381818925"]
["C3553248","MENTAL RETARDATION, AUTOSOMAL DOMINANT 15",986,4,"0.4769118408704372"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841"]
["C3277090","CHROMOSOME 2q23.1 DELETION SYNDROME",983,4,"0.7779578635877981"]
["C3553247","MENTAL RETARDATION, AUTOSOMAL DOMINANT 14",983,4,"-0.06539317343845784"]
["C4304532","2q23.1 microdeletion syndrome",983,4,"0.710787630067661"]
["C1854023","Spinal muscular atrophy, Jerash type",965,4,"0.3467724488146202"]
["C3280587","AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",965,4,"0.1331586705851838"]
["C3711384","Distal Hereditary Motor Neuropathy, Type II",965,4,"-0.1818813881409131"]
["C3888271","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID",965,4,"0.2966258170086335"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0"]
["C1853578","Neuroferritinopathy",961,4,"1.0"]
["C3810090","L-FERRITIN DEFICIENCY",961,4,"1.0"]
["C4024952","Cavitation of the basal ganglia",961,4,"1.0"]
["C0234517","Anarthria speech disorder",960,4,"0.08043819918468745"]
["C1853396","Primary lateral sclerosis juvenile",960,4,"0.753905345597191"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671"]
["C0338902","Writer\\'s cramp neurosis",949,4,"0.8441872370991478"]
["C1851945","DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",949,4,"0.9503061918558788"]
["C1969807","Dystonia, Focal, Task-Specific",949,4,"0.9509677233862748"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141"]
["C0398762","Properdin deficiency disease",942,4,"1.0"]
["C1839454","PROPERDIN DEFICIENCY, X-LINKED",942,4,"1.0"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029"]
["C4014780","OROFACIODIGITAL SYNDROME XIV",938,4,"0.5251645199190038"]
["C0008313","Cholangitis, Sclerosing",923,4,"0.22838409719731467"]
["C0038013","Ankylosing spondylitis",923,4,"-0.12575006794417226"]
["C0566602","Primary sclerosing cholangitis",923,4,"-0.12001639727158234"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363"]
["C1844569","Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder",918,4,"0.9575445344660868"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868"]
["C3275558","MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",918,4,"0.9575445344660868"]
["C1300267","Brachydactyly syndrome type B",913,4,"0.9376849361290489"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834"]
["C3151609","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",913,4,"0.9621021108222909"]
["C3151610","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",913,4,"0.9621021108222909"]
["C3714995","CARDIOMYOPATHY, DILATED, 1KK",908,4,"1.0"]
["C3714998","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",908,4,"1.0"]
["C3808963","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",908,4,"1.0"]
["C4479186","NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE",908,4,"1.0"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433"]
["C1302790","Congenital malformation syndrome",892,4,"0.48092873988055274"]
["C2675862","Pyloric Stenosis, Infantile Hypertrophic, 5",892,4,"0.7699820102594364"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364"]
["C1563696","DNA Repair-Deficiency Disorders",885,4,"0.9621712857806799"]
["C1563697","Chromosome Instability Syndromes",885,4,"0.9621712857806799"]
["C3150667","MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",885,4,"0.8679791396861877"]
["C4225397","ATAXIA-OCULOMOTOR APRAXIA 4",885,4,"0.9621712857806799"]
["C0270724","Infantile Neuroaxonal Dystrophy",874,4,"0.8493486536305945"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714"]
["C2750220","Karak Syndrome",874,4,"0.9665095510784714"]
["C2751842","PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",874,4,"0.9665095510784714"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523"]
["C3152102","USH1D/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C3275872","USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C0338473","Neuroaxonal Dystrophies",850,4,"0.9763121476503032"]
["C0751716","Adult Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751717","Juvenile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751718","Late Infantile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519"]
["C3150732","LYMPHEDEMA, HEREDITARY, IC",828,4,"0.9689434860194519"]
["C4274084","Pelizaeus Merzbacher like disease",828,4,"0.8988264701320258"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481"]
["C0028817","Ochronosis",815,4,"0.9998949928170674"]
["C0410607","Intervertebral disk calcification",815,4,"0.9998949928170674"]
["C2931645","Ochronosis, hereditary",815,4,"0.9998949928170674"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219"]
["C0026916","Mycobacterium avium-intracellulare Infection",809,4,"0.874268558118369"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369"]
["C0152205","Alternating esotropia",778,4,"0.6668195784166747"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791"]
["C0154141","Thyrotoxicosis with toxic single thyroid nodule",777,4,"0.7790903844121302"]
["C0154143","Toxic multinodular goiter",777,4,"0.761212308025839"]
["C0268446","Thyrotoxic periodic paralysis",777,4,"0.7634430126158891"]
["C4021553","Periodic hypokalemic paresis",777,4,"0.16836888503759684"]
["C0340486","Induced ventricular tachycardia",763,4,"0.9689497285955772"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772"]
["C4053736","Catecholaminergic Polymorphic Ventricular Tachycardia Type 1",763,4,"0.8604421250736728"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619"]
["C3279093","LONG QT SYNDROME 2/9, DIGENIC",760,4,"0.7046718288484356"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906"]
["C3277700","LONG QT SYNDROME 1/2, DIGENIC (disorder)",759,4,"0.5600704718799824"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671"]
["C1096660","Ehlers-Danlos syndrome type IX",757,4,"0.9584766650423687"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687"]
["C0023510","Leukocyte Disorders",754,4,"0.8708959682898822"]
["C0242597","Leukocyte-Adhesion Deficiency Syndrome",754,4,"0.8708959682898822"]
["C0272187","Congenital leukocyte adherence deficiency",754,4,"0.5926966934749797"]
["C0398738","Leukocyte adhesion deficiency type 1",754,4,"0.8923126575533546"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324"]
["C0031046","Pericarditis",737,4,"0.7652398869788269"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893"]
["C1167732","Pleuropericarditis",737,4,"0.948447210824893"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251"]
["C3888088","SMITH-MCCORT DYSPLASIA 1",725,4,"0.9702319108165626"]
["C0006664","Calcinosis cutis",716,4,"0.9950932510684533"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566"]
["C0748397","Reynolds syndrome",716,4,"0.9950932510684533"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533"]
["C0151747","Renal tubular disorder",714,4,"0.6564438927056846"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803"]
["C0268709","Renal tubular defect",714,4,"0.6568289259015833"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243"]
["C3150674","CHROMOSOME 15q24 DELETION SYNDROME",708,4,"0.8389773239052534"]
["C3150675","CHROMOSOME 15q24 DUPLICATION SYNDROME",708,4,"0.8389773239052534"]
["C4025697","Gastrointestinal atresia",708,4,"0.5941201036686057"]
["C4310804","WITTEVEEN-KOLK SYNDROME",708,4,"0.8389773239052534"]
["C0263580","Ichthyosis hystrix",696,4,"0.8742152361227875"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682"]
["C4011726","MYOPATHY, TUBULAR AGGREGATE, 1",681,4,"0.587886115917754"]
["C4015624","MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",681,4,"0.19107546263873001"]
["C0013369","Dysentery",674,4,"0.5565012010686669"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862"]
["C1857231","LACTASE PERSISTENCE",674,4,"0.44101976176582613"]
["C0014057","Japanese Encephalitis",670,4,"0.12529101004639417"]
["C0037354","Smallpox",670,4,"0.25178701965340117"]
["C0043395","Yellow Fever",670,4,"0.2715412910380418"]
["C1096184","West Nile viral infection",670,4,"0.14120861033824855"]
["C0155118","Corneal degeneration",668,4,"0.8857334165912198"]
["C0271288","Corneal guttata",668,4,"0.12529869842568003"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397"]
["C0542037","Hypotriglyceridemia",660,4,"0.49505692326805123"]
["C3149462","HYPERALPHALIPOPROTEINEMIA 1",660,4,"-0.10585370600871524"]
["C3151467","Apolipoprotein C-III Deficiency",660,4,"0.22375473325642664"]
["C0406810","Carney Complex",656,4,"0.966104924710435"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422"]
["C1864846","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)",656,4,"0.9882890821196422"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766"]
["C0030591","Paroxysmal ventricular tachycardia",646,4,"0.6412214985130897"]
["C1832600","Naxos disease",646,4,"0.4094582303008028"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523"]
["C2677105","Inflammatory Bowel Disease 12",646,4,"-0.02988571523685779"]
["C0025306","Meningococcemia",643,4,"0.2591458046500854"]
["C0877430","Asthma chronic",643,4,"0.704724009687437"]
["C1096458","Vascular occlusion",643,4,"0.704724009687437"]
["C2750067","Plasminogen Activator Inhibitor-1 Deficiency",643,4,"0.704724009687437"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064"]
["C0272322","Severe hereditary factor VIII deficiency disease",640,4,"0.8052338115339882"]
["C0272324","Mild hereditary factor VIII deficiency disease",640,4,"0.8046019085659679"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239"]
["C3887709","Optic Neuropathy",637,4,"0.3628349824329477"]
["C0014173","Endometrial Hyperplasia",631,4,"0.9747354035273748"]
["C0349578","Complex Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0349579","Atypical Endometrial Hyperplasia",631,4,"0.9911635507461023"]
["C0456483","Simple Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764"]
["C3150988","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",593,4,"-0.1953277045552747"]
["C3554316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15",593,4,"0.20570769240111966"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031"]
["C3553830","AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",585,4,"0.1924090306536971"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824"]
["C1855432","Mandibulofacial Dysostosis with Mental Deficiency",575,4,"1.0"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0"]
["C3495438","Macular Degeneration, Age-Related, 2",575,4,"1.0"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441"]
["C0242225","Color blindness",566,4,"0.9950754269291268"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441"]
["C0019625","Sinus histiocytosis",564,4,"1.0"]
["C0235592","Cervical lymphadenopathy",564,4,"1.0"]
["C0432262","Dysosteosclerosis",564,4,"1.0"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0"]
["C0432347","Uncombable hair syndrome",548,4,"0.8035445441555604"]
["C4020850","Generalized trichodysplasia",548,4,"0.8792453047085022"]
["C4025700","Trichodysplasia",548,4,"0.8792453047085022"]
["C4310649","UNCOMBABLE HAIR SYNDROME 2",548,4,"0.6533279180232886"]
["C3150733","LONG QT SYNDROME 13",547,4,"1.0"]
["C3150933","HYPERALDOSTERONISM, FAMILIAL, TYPE III",547,4,"1.0"]
["C4020742","Familial primary hyperaldosteronism type 2",547,4,"1.0"]
["C4023208","Glucocortocoid-insensitive primary hyperaldosteronism",547,4,"1.0"]
["C0040412","Fissured tongue",541,4,"0.38932353203088294"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794"]
["C3272802","Hamartomatous polyposis",541,4,"0.49314407207659977"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314"]
["C1708353","Hereditary Paraganglioma-Pheochromocytoma Syndrome",540,4,"0.10474032977052136"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165"]
["C1858592","Carney Triad",540,4,"0.24373366452987683"]
["C4025693","Hypertension associated with pheochromocytoma",540,4,"0.535271664386681"]
["C3150412","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3",513,4,"0.6020080495063018"]
["C3150417","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",513,4,"0.8973661853444033"]
["C3151519","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",513,4,"0.8472780013808121"]
["C4310704","RETINITIS PIGMENTOSA 76",513,4,"0.8973661853444033"]
["C0268354","De Barsy syndrome",498,4,"1.0"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0"]
["C4225268","CUTIS LAXA, AUTOSOMAL DOMINANT 3",498,4,"1.0"]
["C4225272","SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",498,4,"1.0"]
["C0002949","Aneurysm, Dissecting",495,4,"0.4190083652153722"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011"]
["C2697933","Loeys-Dietz Syndrome Type 1",495,4,"0.3284215457493587"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684"]
["C4022878","Descending aortic dissection",494,4,"0.4382772547496848"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954"]
["C0029118","Opportunistic Infections",487,4,"0.44372825067254085"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885"]
["C0270246","Meconium plug syndrome",484,4,"0.8684151328108605"]
["C0398349","Distal intestinal obstruction syndrome",484,4,"-0.05192123239712883"]
["C2939175","Meconium ileus",484,4,"0.8993817382526215"]
["C3553270","DIARRHEA 6",484,4,"0.8684151328108605"]
["C0267937","Acute recurrent pancreatitis",481,4,"0.6551856257743953"]
["C0341471","Idiopathic chronic pancreatitis",481,4,"0.6557646647913911"]
["C0747198","pancreatitis idiopathic",481,4,"0.24422481763496753"]
["C2609129","Autoimmune pancreatitis",481,4,"0.4201820765467514"]
["C0341862","Hypothalamic amenorrhea",479,4,"1.0"]
["C3554224","LEPTIN DEFICIENCY OR DYSFUNCTION",479,4,"1.0"]
["C3824872","Obesity in animals",479,4,"1.0"]
["C3838754","Congenital leptin deficiency",479,4,"1.0"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0"]
["C1859069","Brittle Bone Disorder",461,4,"1.0"]
["C4303786","Ehlers-Danlos syndrome vascular-like type",461,4,"1.0"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784"]
["C3840085","Disorder of Achilles tendon",457,4,"0.39971956502070516"]
["C4225429","Ehlers-Danlos syndrome classic type",457,4,"0.42484294501622777"]
["C1837187","MACULAR DEGENERATION, AGE-RELATED, 3",453,4,"0.9332428068483192"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192"]
["C4225406","NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION",453,4,"0.9332428068483192"]
["C0014836","Escherichia coli Infections",436,4,"0.42148715921281665"]
["C1096063","Drug Resistant Epilepsy",436,4,"0.5351995344085753"]
["C1861502","COLCHICINE RESISTANCE",436,4,"0.7518401423529796"]
["C2677101","Inflammatory Bowel Disease 13",436,4,"0.7518401423529796"]
["C0019114","Hemosiderosis",428,4,"0.886579780043549"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283"]
["C3469186","HEMOCHROMATOSIS, TYPE 1",428,4,"0.5059919153578046"]
["C0029421","Osteochondritis Dissecans",425,4,"0.6118752508401556"]
["C0038012","Spondylitis",425,4,"0.8730318364465777"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777"]
["C3665488","Familial Osteochondritis Dissecans",425,4,"0.8730318364465777"]
["C0750145","Occlusive vascular disease",416,4,"0.9870622703220427"]
["C1306889","Peripheral arterial occlusive disease",416,4,"0.9956471897164249"]
["C4025272","Peripheral arterial stenosis",416,4,"0.9956471897164249"]
["C4531019","Arterial disease of legs",416,4,"0.9956471897164249"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915"]
["C3278482","DESBUQUOIS DYSPLASIA, KIM VARIANT",411,4,"0.5918089323106626"]
["C4012146","DESBUQUOIS DYSPLASIA 1",411,4,"0.5918089323106626"]
["C4014294","DESBUQUOIS DYSPLASIA 2",411,4,"-0.29884429387514977"]
["C0021100","Bullous impetigo",398,4,"0.6195026896156528"]
["C1838099","ABCD syndrome",398,4,"0.6195026896156528"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962"]
["C3266898","Waardenburg Syndrome",398,4,"-0.15530663933950462"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089"]
["C3809781","Cole disease",391,4,"0.8578268889014156"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798"]
["C4225369","MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",353,4,"0.9667328529971798"]
["C4225413","MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",353,4,"0.9667328529971798"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566"]
["C3665333","Keratitis-Ichthyosis-Deafness Syndrome",349,4,"0.7237192186662726"]
["C4011788","Behavioral variant of frontotemporal dementia",347,4,"0.7960292379557252"]
["C4021584","Frontotemporal cerebral atrophy",347,4,"0.7000467182622997"]
["C4024936","Temporal cortical atrophy",347,4,"0.7287840688620689"]
["C4024956","Grammar-specific speech disorder",347,4,"0.7900381285986946"]
["C0270920","Supranuclear paralysis",346,4,"0.7816267884283268"]
["C0338460","Argyrophilic grain disease",346,4,"0.5149372574107562"]
["C0393570","Corticobasal degeneration",346,4,"0.7499873031211506"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268"]
["C0477548","Other chondrocalcinosis",337,4,"0.6929768292601719"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736"]
["C2931105","Hypercalciuria, childhood idiopathic",337,4,"0.2494154124977662"]
["C0038833","Superior Vena Cava Syndrome",333,4,"1.0"]
["C0038834","Superior Vena Cava Thrombosis",333,4,"1.0"]
["C0267941","Pancreatitis, Acute Necrotizing",333,4,"1.0"]
["C3150644","BRACHYDACTYLY, TYPE E2",333,4,"1.0"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584"]
["C0205858","General Paralysis",316,4,"0.4336675050527473"]
["C3280415","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",316,4,"0.7149075838121606"]
["C3281191","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13",316,4,"0.6351962755291004"]
["C4310728","SEIZURES, BENIGN FAMILIAL INFANTILE, 5",316,4,"0.7149075838121606"]
["C0014804","Erythromelalgia",295,4,"0.9798909948940998"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998"]
["C3178789","Widespread Chronic Pain",295,4,"0.9681508168503132"]
["C3276706","Small Fiber Neuropathy",295,4,"0.953713000278888"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013"]
["C0268800","Simple renal cyst",287,4,"0.27754182989834264"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922"]
["C0010709","Cyst",286,4,"0.314153182593162"]
["C0334054","cystic disease",286,4,"0.43401777605374775"]
["C1868148","Potter Type III Polycystic Kidney Disease",286,4,"0.7202711540267214"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875"]
["C3151568","NEPHROTIC SYNDROME, TYPE 4",278,4,"0.9969524000045875"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457"]
["C3150099","ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS",269,4,"0.2511528835159662"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857"]
["C4479387","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",262,4,"0.6186581197395332"]
["C4479409","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",262,4,"0.6186581197395332"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789"]
["C4303475","Hyperinsulinism due to HNF1A deficiency",261,4,"0.997160994457789"]
["C0586358","Biliary Intraepithelial Neoplasia",259,4,"0.859722580419669"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176"]
["C3809005","CARDIOFACIOCUTANEOUS SYNDROME 2",259,4,"0.7421456764536136"]
["C0268124","Adenosine deaminase deficiency",243,4,"0.9961400504485656"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779"]
["C1863236","SCID Due to ADA Deficiency, Early-Onset",243,4,"0.9948941602845729"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929"]
["C0085702","Monocytosis",211,4,"0.12792032357732802"]
["C0272183","Qualitative abnormality of granulocyte",211,4,"0.7687172741289907"]
["C2675526","Neutropenia, Severe Congenital, Autosomal Recessive 4",211,4,"0.7926872639946244"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135"]
["C0221023","Cyclic neutropenia",210,4,"0.8717659801155617"]
["C1859966","Neutropenia, Severe Congenital, Autosomal Dominant 1",210,4,"0.4452213445746989"]
["C3671688","Cyclic Hematopoesis",210,4,"0.8786183589438135"]
["C3151513","MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)",208,4,"0.7887256405736275"]
["C3711385","Deoxyguanosine Kinase Deficiency",208,4,"0.202928994485112"]
["C4310733","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",208,4,"0.8277342624068593"]
["C4310735","PORTAL HYPERTENSION, NONCIRRHOTIC",208,4,"0.8277342624068593"]
["C0024291","Lymphohistiocytosis, Hemophagocytic",198,4,"0.35312140083346233"]
["C0398794","Hypopigmentation-immunodeficiency disease",198,4,"0.3739540744581038"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701"]
["C3887558","Hemophagocytic Syndrome",198,4,"0.6268040040887832"]
["C0451720","Nephrotic syndrome, focal and segmental glomerular lesions",194,4,"1.0"]
["C2902887","Nephrotic syndrome with focal and segmental hyalinosis",194,4,"1.0"]
["C2902888","Nephrotic syndrome with focal and segmental sclerosis",194,4,"1.0"]
["C2902889","Nephrotic syndrome with focal glomerulonephritis",194,4,"1.0"]
["C0085278","Antiphospholipid Syndrome",189,4,"0.6552586323302864"]
["C1395512","Placental dysfunction",189,4,"0.856543739091351"]
["C1836302","Carotid Intimal Medial Thickness 1",189,4,"0.856543739091351"]
["C3875007","Nodular thyroid disease",189,4,"0.856543739091351"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937"]
["C1850155","TORG-WINCHESTER SYNDROME",185,4,"0.8904162511903769"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937"]
["C0011644","Scleroderma",182,4,"0.6767100101356879"]
["C0036420","Localized scleroderma",182,4,"0.8924031484606498"]
["C0263409","Linear Scleroderma",182,4,"0.8908365329532832"]
["C1527383","Morphea",182,4,"0.8908365329532832"]
["C0152458","Leukocoria",172,4,"0.598085851562855"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544"]
["C3151302","Chromosome 13q14 deletion syndrome",172,4,"0.06853308659889465"]
["C3151445","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",172,4,"0.30082344945229544"]
["C1260386","Glucocorticoid-remediable aldosteronism",158,4,"0.8397479817803102"]
["C4020743","Glucocorticoid-remediable familial primary aldosteronism",158,4,"0.9695593994273085"]
["C4020744","Familial primary hyperaldosteronism type 1",158,4,"0.9695593994273085"]
["C4023209","Dexamethasone-suppresible primary hyperaldosteronism",158,4,"0.9695593994273085"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091"]
["C0477317","Other primary thrombocytopenia",151,4,"0.5454733586788403"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777"]
["C0497299","meningitis/encephalitis",132,4,"0.8961309741885334"]
["C0948264","Neuroborreliosis",132,4,"0.8961309741885332"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061"]
["C0852283","Respiratory Distress Syndrome",118,4,"0.65512356634232"]
["C0001306","Acute alcoholic liver disease",116,4,"0.7883071854459298"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316"]
["C1290344","Nonspecific interstitial pneumonia",116,4,"-0.003977874222303178"]
["C3874381","Childhood nephrotic syndrome",116,4,"0.7930542201453316"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0"]
["C1834372","Narcolepsy 1",108,4,"1.0"]
["C4025713","Paroxysmal drowsiness",108,4,"1.0"]
["C4543926","Narcolepsy type 1",108,4,"1.0"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852"]
["C3278138","FIBROCHONDROGENESIS 1",91,4,"0.9566780682623128"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531"]
["C0949496","Luft Disease",79,4,"0.8236839081654147"]
["C0011636","Dermatophytosis",78,4,"0.9010049904006909"]
["C0040247","Tinea",78,4,"0.9010049904006909"]
["C1262313","Invasive Fungal Infections",78,4,"0.7059847213506212"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989"]
["C0085663","Plasmacytosis",71,4,"0.5640227428535829"]
["C0854706","Neonatal infection",71,4,"0.7879726612329239"]
["C1304456","Congo hemorrhagic fever",71,4,"0.7879726612329239"]
["C0085655","Polymyositis",59,4,"0.8582276889857904"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199"]
["C0022806","Kwashiorkor",54,4,"0.8410997792706195"]
["C0151482","Megaloblastic anemia due to folate deficiency",54,4,"0.8410997792706195"]
["C0744483","growth hormone treatment",54,4,"0.4903928473083416"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637"]
["C0271561","Somatotropin deficiency",52,4,"0.6066731568781064"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556"]
["C2919861","Medullary cystic kidney disease type 1",51,4,"-0.03064740386634348"]
["C4025730","Renal cortical atrophy",51,4,"0.8209579156411062"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948"]
["C1857813","Macular Degeneration, Age-Related, 7",44,4,"0.9996445193767856"]
["C4225211","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",44,4,"0.9996445193767856"]
["C4293701","Status cribrosum",44,4,"0.9996445193767856"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0149649","Cholesterol Embolism",23,4,"0.9999999999999991"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776"]
["C3281128","FIBROCHONDROGENESIS 2",11,4,"0.9986611192663502"]
["C0038557","Submandibular Gland Diseases",7,4,"1.0"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0"]
["C4225296","MENTAL RETARDATION, AUTOSOMAL DOMINANT 39",2188,3,"1.0"]
["C4225432","CHROMOSOME 2p25.3 DUPLICATION SYNDROME",2188,3,"1.0"]
["C4225433","CHROMOSOME 2p25.3 DELETION SYNDROME",2188,3,"1.0"]
["C0085417","Epilepsy, Complex Partial",2187,3,"1.0"]
["C0751640","Cryptogenic Partial Complex Epilepsy",2187,3,"1.0"]
["C0751641","Epilepsy, Symptomatic, Partial Complex",2187,3,"1.0"]
["C0749398","Recurrent thromboembolic disease",2170,3,"1.0"]
["C2751090","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency",2170,3,"1.0"]
["C2751091","Thrombophilia Due To Elevated Histidine-Rich Glycoprotein",2170,3,"1.0"]
["C0795942","Fitzsimmons-Guilbert syndrome",2164,3,"1.0"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0"]
["C4310784","MENTAL RETARDATION, AUTOSOMAL DOMINANT 41",2164,3,"1.0"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0"]
["C1852750","Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation",2160,3,"1.0"]
["C3805432","COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",2160,3,"1.0"]
["C0038041","Spotted Fever Group Rickettsiosis",2152,3,"1.0"]
["C0041471","TYPHUS",2152,3,"1.0"]
["C0343758","Typhus group rickettsial disease",2152,3,"1.0"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618"]
["C4011926","WHITE SPONGE NEVUS 1",2146,3,"0.4374897000674704"]
["C4014321","WHITE SPONGE NEVUS 2",2146,3,"0.24201997154868293"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356"]
["C4225266","IMMUNODEFICIENCY 42",2132,3,"0.34023871987494253"]
["C0342765","D-Glyceric aciduria",2127,3,"1.0"]
["C1291386","D-glycericacidemia",2127,3,"1.0"]
["C3887877","Deficiency of glycerate kinase",2127,3,"1.0"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656"]
["C0483368","Human anaplasmosis due to Anaplasma phagocytophilum",2115,3,"0.23389454682244462"]
["C3151068","RETINITIS PIGMENTOSA 44",2115,3,"0.05352557818713353"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0"]
["C3495589","Jalili syndrome",2113,3,"1.0"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143"]
["C4479534","TOWNES-BROCKS SYNDROME 2",2096,3,"0.20090481602953247"]
["C1847973","Persistent Polyclonal B-Cell Lymphocytosis",2095,3,"0.9979012783369534"]
["C3554686","IMMUNODEFICIENCY 11",2095,3,"0.9989503257576544"]
["C4539957","IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS",2095,3,"0.9989503257576544"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845"]
["C0035585","Rickettsia Infections",2091,3,"1.0"]
["C0162699","Tick-Borne Infections",2091,3,"1.0"]
["C0162700","Tick-Borne Diseases",2091,3,"1.0"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469"]
["C0268632","Homocarnosinosis",2089,3,"1.0"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0"]
["C3495555","Carnosinemia",2089,3,"1.0"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021"]
["C1997910","Citrin deficiency",2085,3,"0.9983849875296601"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0"]
["C0242770","Bronchiolitis Obliterans Organizing Pneumonia",2081,3,"1.0"]
["C3809768","IMMUNODEFICIENCY 13",2081,3,"1.0"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624"]
["C3150891","COCOON SYNDROME",2069,3,"0.7041825049843902"]
["C0341698","Atrophy of kidney",2063,3,"0.9800181943609076"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0"]
["C2746067","Spinocerebellar ataxia 22",2061,3,"1.0"]
["C4225340","BRUGADA SYNDROME 9",2061,3,"1.0"]
["C0748903","spinal cord involvement",2059,3,"0.5687426290587779"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036"]
["C3809008","HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY",2059,3,"0.13177922814717405"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953"]
["C3538999","DYSTONIA 23",2057,3,"0.5685229120141311"]
["C0339383","Choroidal and/or chorioretinal disorder",2051,3,"1.0"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499"]
["C0263874","Degeneration of lumbar intervertebral disc",2042,3,"0.48952620884826686"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0"]
["C4024950","Nonprogressive encephalopathy",2039,3,"1.0"]
["C4540014","VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",2039,3,"1.0"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193"]
["C4225419","RITSCHER-SCHINZEL SYNDROME 2",2028,3,"0.2945519152029828"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818"]
["C0341007","Alveolar ridge abnormality",2027,3,"0.9714367058705354"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983"]
["C0040947","Trichostrongyloidiasis",2025,3,"1.0"]
["C3150923","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",2025,3,"1.0"]
["C4013764","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES",2025,3,"1.0"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0"]
["C3150127","BARDET-BIEDL SYNDROME 15",2024,3,"1.0"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156"]
["C3151404","AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",2023,3,"0.6895241324332145"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574"]
["C3280296","Microcephaly-capillary malformation syndrome",2020,3,"0.2606335725477711"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029"]
["C2921112","Septate uterus, complete or partial",2014,3,"0.9995763003557029"]
["C0271836","X-linked reduction of thyroxine-binding globulin",2010,3,"1.0"]
["C1839141","Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C3711378","Inherited Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0"]
["C1854058","SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",1988,3,"1.0"]
["C1866777","Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",1988,3,"1.0"]
["C0393555","Pure hereditary spastic paraplegia",1987,3,"1.0"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353"]
["C4274079","Bile acid CoA ligase deficiency and defective amidation",1986,3,"0.22106619772570074"]
["C1867315","Retinal Nonattachment And Falciform Detachment",1980,3,"0.7175213063989154"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154"]
["C3151617","ANTERIOR SEGMENT DYSGENESIS 7",1980,3,"0.39625116947742944"]
["C0030508","Parasomnia",1962,3,"1.0"]
["C1868570","CHAR SYNDROME",1962,3,"1.0"]
["C4284595","PATENT DUCTUS ARTERIOSUS 2",1962,3,"1.0"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676"]
["C3150191","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities",1948,3,"0.9200101486139004"]
["C4317224","Congenital disorder of glycosylation type 1q",1948,3,"0.7586903336298874"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817"]
["C4025196","Recurrent systemic pyogenic infections",1942,3,"0.999416310286182"]
["C4304022","Attenuated ChÃ©diak-Higashi syndrome",1942,3,"0.999416310286182"]
["C1843791","CARDIOMYOPATHY, DILATED, 1N",1941,3,"1.0"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0"]
["C4225408","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",1941,3,"1.0"]
["C1838299","Peroxisome Biogenesis Disorder, Complementation Group 14",1936,3,"1.0"]
["C1838300","Peroxisome Biogenesis Disorder, Complementation Group J",1936,3,"1.0"]
["C3554002","PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)",1936,3,"1.0"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0"]
["C0268221","Fucosidosis Type I",1935,3,"1.0"]
["C0268222","Fucosidosis Type II",1935,3,"1.0"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991"]
["C1837549","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",1933,3,"0.9213910597659157"]
["C1853296","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3",1933,3,"0.8823924145580664"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0"]
["C0740749","Chronic metabolic acidosis",1928,3,"1.0"]
["C1856399","Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",1928,3,"1.0"]
["C1841989","Glomerulonephritis sparse hair telangiectases",1927,3,"1.0"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0"]
["C4317151","Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",1927,3,"1.0"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841"]
["C1879362","Hypertyrosinemia",1922,3,"0.8588806966598388"]
["C1864356","ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",1913,3,"0.9943563839217691"]
["C4014690","EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",1913,3,"0.9971774483802369"]
["C4225399","SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES",1913,3,"0.9971774483802369"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948"]
["C4015542","NEPHRONOPHTHISIS 19",1909,3,"0.9924594449072948"]
["C4479344","SCLEROSING CHOLANGITIS, NEONATAL",1909,3,"0.9849411022011099"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688"]
["C0235946","Cerebral atrophy",1900,3,"0.6108245095183256"]
["C4020860","Supratentorial atrophy",1900,3,"0.7572480642891091"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0"]
["C3280977","SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",1897,3,"1.0"]
["C4274988","Spinocerebellar ataxia type 28",1897,3,"1.0"]
["C1858477","Epilepsy, Partial, with Variable Foci",1895,3,"0.348071332974478"]
["C4310708","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",1895,3,"0.19514242380157906"]
["C4310709","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",1895,3,"0.19514242380157906"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048"]
["C3148823","WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",1893,3,"0.9960886677518175"]
["C3148824","WH/HT",1893,3,"0.9960886677518175"]
["C1848435","WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",1892,3,"0.5827144378236757"]
["C1854310","Hypotrichosis simplex",1892,3,"0.1837819997464611"]
["C3279470","HYPOTRICHOSIS 8",1892,3,"0.6960132188769539"]
["C1366911","Cerebral Cavernous Malformations 1",1890,3,"0.9989230515253277"]
["C1861785","Cavernous Malformations of CNS and Retina",1890,3,"0.9994625329171823"]
["C1861786","Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations",1890,3,"0.9994625329171823"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634"]
["C0001338","Herpetic Acute Necrotizing Encephalitis",1881,3,"0.8495956933717724"]
["C0019385","Herpetic meningoencephalitis",1881,3,"0.9281142004175484"]
["C0276226","Herpes encephalitis",1881,3,"0.9106485268209112"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534"]
["C4225349","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA",1879,3,"0.7123240917271534"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334"]
["C0543697","Mixed cryoglobulinemia",1868,3,"0.42793889561978304"]
["C3542922","IMMUNODEFICIENCY, COMMON VARIABLE, 7",1868,3,"0.012789108690259137"]
["C3554540","LYMPHOPROLIFERATIVE SYNDROME 2",1868,3,"0.2270189344199347"]
["C0020800","Idiopathic Hypercatabolic Hypoproteinemia",1866,3,"0.9532340651889991"]
["C0033680","Protein-Losing Enteropathies",1866,3,"0.8918414272593603"]
["C4538570","COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",1866,3,"0.9532340651889991"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291"]
["C4225382","COLE-CARPENTER SYNDROME 2",1859,3,"0.31820989922858894"]
["C4317154","COLE-CARPENTER SYNDROME 1",1859,3,"0.2690631429428057"]
["C0152136","Low Tension Glaucoma",1857,3,"0.6895494718443996"]
["C0393729","Immersion Related Epilepsy",1857,3,"0.8588056389000274"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541"]
["C3280479","PITT-HOPKINS-LIKE SYNDROME 2",1856,3,"1.0"]
["C3280524","SCHIZOPHRENIA 17",1856,3,"1.0"]
["C3808494","CHROMOSOME 2p16.3 DELETION SYNDROME",1856,3,"1.0"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393"]
["C3806565","XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",1853,3,"0.9701802351769376"]
["C3808988","FANCONI ANEMIA, COMPLEMENTATION GROUP Q",1853,3,"0.9701802351769376"]
["C3809811","PARKINSON DISEASE 19A, JUVENILE-ONSET",1848,3,"0.7779017889053547"]
["C4310802","PARKINSON DISEASE 19B, EARLY-ONSET",1848,3,"0.7779017889053547"]
["C4510873","Atypical juvenile parkinsonism",1848,3,"0.0"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503"]
["C1851920","Dopa-Responsive Dystonia",1838,3,"0.7381031668122107"]
["C2673535","DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",1838,3,"0.37246962795044164"]
["C0042345","Varicosity",1837,3,"0.15021081890586396"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988"]
["C3810170","DEAFNESS, AUTOSOMAL DOMINANT 56",1837,3,"0.03571767562373238"]
["C0005395","Bile Duct Diseases",1826,3,"0.7410174652844066"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478"]
["C0023092","Lassa Fever",1825,3,"1.0"]
["C3151184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",1825,3,"1.0"]
["C4225291","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",1825,3,"1.0"]
["C1858386","Leber Congenital Amaurosis 4",1821,3,"1.0"]
["C2751763","Retinitis Pigmentosa, Juvenile, Aipl1-Related",1821,3,"1.0"]
["C2751764","CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)",1821,3,"1.0"]
["C0030569","Secondary Parkinson Disease",1815,3,"1.0"]
["C0751414","Parkinson Disease, Secondary Vascular",1815,3,"1.0"]
["C0751415","Atherosclerotic Parkinsonism",1815,3,"1.0"]
["C0019050","Hemoglobinuria, Paroxysmal",1806,3,"0.8575029885859068"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564"]
["C0086774","Cold paroxysmal hemoglobinuria",1806,3,"0.8560542491747499"]
["C0158962","Hemolytic disease of fetus OR newborn due to RhD isoimmunization",1804,3,"0.8028804708317344"]
["C1263988","Hemolytic disorder",1804,3,"0.4778547659029687"]
["C3698348","Anti-D isoimmunization affecting pregnancy",1804,3,"0.7861702116869942"]
["C0272052","Rh Deficiency Syndrome",1803,3,"0.7511318301054977"]
["C1849387","Rh-Null, Regulator Type",1803,3,"0.8359234306347942"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591"]
["C0032300","Lobar Pneumonia",1802,3,"0.9255647625813682"]
["C3714636","Pneumonitis",1802,3,"0.9325632566281837"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387"]
["C4225289","EPILEPSY, PROGRESSIVE MYOCLONIC, 9",1801,3,"0.7755009700527273"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0"]
["C3550693","PEROXISOME BIOGENESIS DISORDER 3B",1790,3,"1.0"]
["C3553929","PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)",1790,3,"1.0"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0"]
["C2931894","Mucolipidosis 2",1780,3,"1.0"]
["C1857144","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",1779,3,"0.39096744761216035"]
["C3151441","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",1779,3,"0.2588869415408644"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458"]
["C1706559","Cornea verticillata",1775,3,"0.9732926826845234"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344"]
["C0949855","Electron Transport Chain Deficiencies, Mitochondrial",1774,3,"0.9996297667474157"]
["C0949856","Oxidative Phosphorylation Deficiencies",1774,3,"0.9994447643342457"]
["C0949857","Mitochondrial Respiratory Chain Deficiencies",1774,3,"0.9994447643342457"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0"]
["C3552236","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",1750,3,"1.0"]
["C4024960","Unilateral polymicrogyria",1750,3,"1.0"]
["C0017178","Gastrointestinal Diseases",1742,3,"0.9969676479693609"]
["C0559031","Functional Gastrointestinal Disorders",1742,3,"0.9984558439313651"]
["C1565321","Cholera Infantum",1742,3,"0.998489064790591"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748"]
["C4072877","Scalp folds",1739,3,"0.9999999999999748"]
["C0003175","Anthrax disease",1736,3,"0.6264321207454795"]
["C0017567","Gingival Hypertrophy",1736,3,"0.35725477632624814"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959"]
["C1832841","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",1730,3,"0.5501669211630772"]
["C1842852","EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2",1730,3,"0.205518699249844"]
["C3809374","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5",1730,3,"0.22496788737224574"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674"]
["C3809288","LEFT VENTRICULAR NONCOMPACTION 8",1726,3,"0.5689775839107454"]
["C3809289","CARDIOMYOPATHY, DILATED, 1LL",1726,3,"0.5689775839107454"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0"]
["C1336820","Treatment-Induced Anemia",1723,3,"1.0"]
["C4225256","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",1723,3,"1.0"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056"]
["C4012790","Ataxia-Telangiectasisa-Like Disorder 1",1712,3,"0.6228357668453862"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357"]
["C1291266","Deficiency of aldehyde oxidase",1707,3,"0.9804894260217336"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978"]
["C3896960","Childhood Pre-B Acute Lymphoblastic Leukemia",1705,3,"-0.027256490904037218"]
["C1854776","Infantile cardiomyopathy",1703,3,"0.979530290173549"]
["C3279793","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8",1703,3,"0.958339283945338"]
["C4014588","LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",1703,3,"0.979530290173549"]
["C0033046","Premenstrual syndrome",1702,3,"0.966480153099697"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739"]
["C4275181","Autosomal recessive limb girdle muscular dystrophy type 2A",1701,3,"0.9992510185641242"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739"]
["C1857079","Atretic auditory canal",1696,3,"0.024189804135687224"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577"]
["C0027743","Nerve compression syndrome",1688,3,"0.8472684661866572"]
["C1510429","Entrapment Neuropathies",1688,3,"0.8472684661866572"]
["C4225250","SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",1688,3,"0.6890086092574034"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146"]
["C4015557","AMELOGENESIS IMPERFECTA, TYPE IH",1686,3,"0.09544266829805154"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0"]
["C4024919","Spinocerebellar tract disease in lower limbs",1672,3,"1.0"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635"]
["C3554689","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",1661,3,"0.9997837179499807"]
["C4014934","IMMUNODEFICIENCY 36",1661,3,"0.9997837179499807"]
["C0026618","Dental Fluorosis, Acquired",1660,3,"0.5243431378048634"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511"]
["C3280660","ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",1660,3,"0.7324175848311858"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0"]
["C3553947","PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)",1659,3,"1.0"]
["C3553948","PEROXISOME BIOGENESIS DISORDER 6B",1659,3,"1.0"]
["C4539714","MECKEL SYNDROME 13",1656,3,"1.0"]
["C4539715","JOUBERT SYNDROME 29",1656,3,"1.0"]
["C4539729","OROFACIODIGITAL SYNDROME XVI",1656,3,"1.0"]
["C0033141","Cardiomyopathies, Primary",1651,3,"0.9490350504622265"]
["C0036529","Myocardial Diseases, Secondary",1651,3,"0.9490478822467757"]
["C0878544","Cardiomyopathies",1651,3,"0.8935952248165085"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623"]
["C0747078","Generalized osteopenia",1642,3,"0.09313533783521795"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0"]
["C4225344","TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",1640,3,"1.0"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197"]
["C0451697","Immunodeficiency following hereditary defective response to Epstein-Barr virus",1625,3,"0.7507871873692012"]
["C1264624","Fatal infectious mononucleosis",1625,3,"0.7507871873692012"]
["C0795842","chromosome 11q duplication syndrome",1615,3,"0.994706033041004"]
["C3150803","NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.9887721518740699"]
["C4016301","NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.994706033041004"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511"]
["C3469521","FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",1605,3,"0.5636886029201941"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041"]
["C0272027","Pyridoxine-responsive sideroblastic anemia",1604,3,"0.7589362110647558"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036"]
["C0029106","Opisthorchiasis",1601,3,"1.0"]
["C0277004","Opisthorchis felineus Infection",1601,3,"1.0"]
["C0277005","Opisthorchis viverrini Infection",1601,3,"1.0"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394"]
["C0342701","Transcobalamin II deficiency",1600,3,"0.12675202265221647"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856"]
["C0002888","Anemia, Megaloblastic",1599,3,"0.3113814700916742"]
["C0016412","Folic Acid Deficiency",1599,3,"0.5937557280258959"]
["C3151205","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency",1599,3,"0.7022937679332074"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0"]
["C1837148","MYOPIA 6 (disorder)",1597,3,"0.606976978666884"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343"]
["C2931111","Myopia, susceptibility to",1597,3,"0.606976978666884"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784"]
["C1955741","Glucocorticoid deficiency",1593,3,"0.14891614791697927"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764"]
["C4049714","Familial Glucocorticoid Deficiency Type 2",1593,3,"0.25484786257589775"]
["C1291611","Deficiency of glucose-6-phosphate isomerase",1592,3,"1.0"]
["C3150730","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",1592,3,"1.0"]
["C4025184","Spontaneous hemolytic crises",1592,3,"1.0"]
["C0395837","Stenosis of external auditory canal",1591,3,"0.1918902462414706"]
["C0796117","Pitt-Rogers-Danks Syndrome",1591,3,"0.5489463610066461"]
["C1956097","Wolf-Hirschhorn Syndrome",1591,3,"0.5806709883240742"]
["C0036690","Septicemia",1590,3,"0.9509921932341228"]
["C0243026","Sepsis",1590,3,"0.957037617548331"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135"]
["C0271801","Central hypothyroidism",1587,3,"0.656909284363833"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874"]
["C4316995","Primary Hypothyroidism",1587,3,"0.5898037728754693"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177"]
["C0477362","Other specified extrapyramidal and movement disorders",1584,3,"0.6653449434725934"]
["C3553288","HYPEREKPLEXIA 3",1584,3,"0.21501948255422285"]
["C3553291","HYPEREKPLEXIA 2",1584,3,"0.3040977728098021"]
["C3554398","SPINAL MUSCULAR ATROPHY, JOKELA TYPE",1581,3,"1.0"]
["C4014648","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2",1581,3,"1.0"]
["C4015513","MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",1581,3,"1.0"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0"]
["C3715164","LEBER CONGENITAL AMAUROSIS 17",1578,3,"1.0"]
["C3150967","KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",1577,3,"0.9039202345277295"]
["C3150968","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6",1577,3,"0.6228390306071097"]
["C3150969","MICROPHTHALMIA, ISOLATED 7",1577,3,"0.9039202345277295"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997"]
["C1853392","Interleukin 2 Receptor, Alpha, Deficiency of",1563,3,"0.9994186046050487"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559"]
["C0032197","Platelet Storage Pool Deficiency",1549,3,"0.33774002271700443"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896"]
["C1969032","Cataract, Autosomal Dominant, Multiple Types 1",1544,3,"0.9818921622111928"]
["C3808115","CATARACT 12, MULTIPLE TYPES",1544,3,"0.9640131352322965"]
["C4021566","Progressive cataract",1544,3,"0.9818921622111928"]
["C0858617","Posterior subcapsular cataract",1540,3,"0.052711213386187644"]
["C1112768","Anterior subcapsular cataract",1540,3,"0.7180967726171851"]
["C1854311","Cataract, posterior polar, 3",1540,3,"0.7180967726171851"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868"]
["C1852438","CATARACT, COPPOCK-LIKE",1537,3,"0.5723004159825456"]
["C1861829","Cataract microcornea syndrome",1537,3,"0.3577739220403943"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257"]
["C3553494","CATARACT 38",1532,3,"0.9172248741417512"]
["C4025277","Exercise-induced lactic acidemia",1532,3,"0.9172248741417512"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108"]
["C3280799","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB",1525,3,"0.6022810193401438"]
["C0023212","Left-Sided Heart Failure",1524,3,"0.9410950331781256"]
["C0235527","Heart Failure, Right-Sided",1524,3,"0.9671676281065485"]
["C1959583","Myocardial Failure",1524,3,"0.9684803067912073"]
["C3810127","IMMUNODEFICIENCY 18",1522,3,"1.0"]
["C3810128","IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",1522,3,"1.0"]
["C3810129","IMMUNODEFICIENCY 18, SCID VARIANT",1522,3,"1.0"]
["C0016063","Osteitis Fibrosa Disseminata",1510,3,"0.4283835395680186"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321"]
["C4024867","Perifollicular hyperkeratosis",1509,3,"0.3855165440601735"]
["C4273658","Graham Little Piccardi Lassueur syndrome",1509,3,"0.12256466013168467"]
["C4540331","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5",1509,3,"0.14363459670153464"]
["C0019357","Keratitis, Herpetic",1504,3,"0.8543140063370543"]
["C0024441","Macular Holes",1504,3,"0.8543140063370543"]
["C1853959","Birdshot chorioretinopathy",1504,3,"0.7584042522847354"]
["C0019100","Severe Dengue",1496,3,"0.7285070510157791"]
["C0376300","Dengue Shock Syndrome",1496,3,"0.7320328876670107"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988"]
["C0009447","Common Variable Immunodeficiency",1489,3,"0.8050564431092794"]
["C2936664","Acquired Hypogammaglobulinemia",1489,3,"0.9098670297563175"]
["C2936665","Immunoglobulin Deficiency, Late-Onset",1489,3,"0.9018156343602505"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0"]
["C3809443","MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",1485,3,"1.0"]
["C4310676","MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",1485,3,"1.0"]
["C0008312","Primary biliary cirrhosis",1480,3,"0.720194626981639"]
["C0023892","Biliary cirrhosis",1480,3,"0.825384502803407"]
["C0238065","Biliary Cirrhosis, Secondary",1480,3,"0.7621702456876895"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543"]
["C0268307","Conjugated hyperbilirubinemia",1479,3,"0.3211554123848656"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677"]
["C0020433","Hyperbilirubinemia",1478,3,"0.3877236539305781"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883"]
["C3554656","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",1467,3,"1.0"]
["C3808802","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",1467,3,"1.0"]
["C4225346","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3",1467,3,"1.0"]
["C0270715","Degenerative Diseases, Central Nervous System",1465,3,"0.8958738790288657"]
["C0524851","Neurodegenerative Disorders",1465,3,"0.7706493839617259"]
["C0751733","Degenerative Diseases, Spinal Cord",1465,3,"0.8958738790288657"]
["C0242383","Age related macular degeneration",1460,3,"0.3508155435707356"]
["C1536085","Geographic Atrophy",1460,3,"0.5365313915217961"]
["C2237660","exudative macular degeneration",1460,3,"0.5431116014489481"]
["C2931245","Bone Marrow failure syndromes",1459,3,"0.8681829340857987"]
["C3808553","Bone marrow failure syndrome 1",1459,3,"0.8082675486789305"]
["C3810350","Bone marrow failure syndrome 2",1459,3,"0.8140233132956897"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875"]
["C1442837","Myocardial necrosis",1457,3,"0.5199584299255984"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068"]
["C3554518","COWDEN SYNDROME 5",1453,3,"0.9820446258220068"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928"]
["C0031029","Periapical Granuloma",1446,3,"0.49219730693611324"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788"]
["C0456103","Sepsis of the newborn",1425,3,"1.0"]
["C3553597","3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",1425,3,"1.0"]
["C4040739","3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",1425,3,"1.0"]
["C0085662","Macrocytosis",1415,3,"0.6898979485566357"]
["C0236970","Alcohol-Induced Disorders",1415,3,"0.816496580927726"]
["C0679414","alcohol flush reaction",1415,3,"0.816496580927726"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815"]
["C4280333","Recurrent sinus disease",1409,3,"0.6221372819029892"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981"]
["C0343084","Capillary Leak Syndrome",1407,3,"0.9496117476479664"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347"]
["C0036323","Schistosomiasis",1401,3,"0.4219447499614753"]
["C1850938","FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",1401,3,"0.44476091201218726"]
["C0012716","Disorder of magnesium metabolism",1389,3,"0.9722803115394203"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118"]
["C3151482","HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",1389,3,"0.9722803115394203"]
["C0003507","Aortic Valve Stenosis",1388,3,"0.48225750069486184"]
["C3542024","AORTIC VALVE DISEASE 2",1388,3,"0.7393921099168455"]
["C4479496","CRANIOSYNOSTOSIS 7",1388,3,"0.7524548660560921"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833"]
["C0010068","Coronary heart disease",1381,3,"0.20571659217144087"]
["C1956346","Coronary Artery Disease",1381,3,"0.5274957649514675"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672"]
["C0585953","Recurrent chest infections",1368,3,"0.998040995440351"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351"]
["C0011847","Diabetes",1364,3,"0.2947049926547248"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593"]
["C4310810","MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",1362,3,"0.25231642807326027"]
["C0268528","Hyperprolinemia",1357,3,"0.7784250447678972"]
["C0268529","Proline dehydrogenase deficiency",1357,3,"0.8890025575602069"]
["C1833247","SCHIZOPHRENIA 4 (disorder)",1357,3,"0.8890025575602069"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678"]
["C0003850","Arteriosclerosis",1322,3,"0.1460645896653591"]
["C0004153","Atherosclerosis",1322,3,"0.22350184808457763"]
["C0007222","Cardiovascular Diseases",1322,3,"0.08251658952238015"]
["C2613439","Extramedullary Hematopoiesis (disorder)",1320,3,"0.06046716607367982"]
["C2931351","Familial myelofibrosis",1320,3,"0.7180248799368277"]
["C3809031","NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",1320,3,"0.5987370900416766"]
["C0015695","Fatty Liver",1316,3,"0.5990749101810389"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807"]
["C2711227","Steatohepatitis",1316,3,"0.38953306175171104"]
["C3151185","SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY",1312,3,"0.9914935111076358"]
["C3151186","NEPHRONOPHTHISIS 12",1312,3,"0.9830032650755726"]
["C3279203","JOUBERT SYNDROME 11",1312,3,"0.9914935111076358"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0"]
["C0339730","Blindness, Acquired",1301,3,"1.0"]
["C0376288","Amaurosis",1301,3,"1.0"]
["C0750958","Blindness, Monocular",1301,3,"1.0"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089"]
["C3150354","IMMUNODEFICIENCY, COMMON VARIABLE, 2",1298,3,"0.6181049441109089"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0"]
["C3151063","MACULAR DEGENERATION, AGE-RELATED, 5",1289,3,"1.0"]
["C4310783","PREMATURE OVARIAN FAILURE 11",1289,3,"1.0"]
["C0393697","Epilepsy with grand mal seizures on awakening (disorder)",1288,3,"1.0"]
["C1854107","Hyperaldosteronism, Familial, Type II",1288,3,"1.0"]
["C3810242","LEUKOENCEPHALOPATHY WITH ATAXIA",1288,3,"1.0"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0"]
["C4225327","EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",1287,3,"1.0"]
["C4274995","Lissencephaly with cerebellar hypoplasia",1287,3,"1.0"]
["C0155568","Rheumatic aortic regurgitation",1275,3,"0.8568797603793529"]
["C0263009","Sclerosis of the skin",1275,3,"0.6239397720381178"]
["C0264774","Mitral and aortic incompetence",1275,3,"0.8568797603793529"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721"]
["C3715165","LEFT VENTRICULAR NONCOMPACTION 10",1271,3,"0.9957930780562956"]
["C3809346","CARDIOMYOPATHY, DILATED, 1MM",1271,3,"0.9957930780562956"]
["C0271902","Microcytic normochromic anemia",1270,3,"0.7826772402854394"]
["C1839832","Noncompaction cardiomyopathy",1270,3,"0.12856312160168254"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171"]
["C3714602","Staphylococcal toxic shock syndrome",1266,3,"0.2689950293512008"]
["C4015141","MENTAL RETARDATION, AUTOSOMAL DOMINANT 29",1266,3,"0.7780821530583171"]
["C2674249","Anemia, Sideroblastic, Autosomal Dominant",1262,3,"1.0"]
["C4225180","EVEN-PLUS SYNDROME",1262,3,"1.0"]
["C4225428","ANEMIA, SIDEROBLASTIC, 4",1262,3,"1.0"]
["C2673914","Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",1260,3,"0.677213894756849"]
["C4225155","ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",1260,3,"0.9095043682710268"]
["C4225178","SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",1260,3,"0.9095043682710268"]
["C0030293","Pancreatic Insufficiency",1257,3,"0.002670792483117292"]
["C0267963","Exocrine pancreatic insufficiency",1257,3,"0.5081381914199979"]
["C0554119","Pancreatic malabsorption",1257,3,"0.2519420493453454"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0"]
["C1969106","Osteopetrosis, Autosomal Recessive 4",1244,3,"0.5252547295447586"]
["C3179239","Osteopetrosis Autosomal Dominant Type 2",1244,3,"0.7759970358718379"]
["C3645711","Congenital Osteopetrosis",1244,3,"0.187607563636263"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525"]
["C4274118","Joubert syndrome with ocular defect",1238,3,"-0.04647399350109089"]
["C1851479","Keratoderma palmoplantaris transgrediens",1236,3,"1.0"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0"]
["C4509933","Peripheral neuropathy with sensorineural hearing impairment syndrome",1236,3,"1.0"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444"]
["C4310705","JOUBERT SYNDROME 28",1228,3,"0.9820205015404687"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248"]
["C3280898","JOUBERT SYNDROME 9/15, DIGENIC",1227,3,"0.9452684881936295"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0"]
["C3150796","NEPHRONOPHTHISIS 11",1223,3,"1.0"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587"]
["C3263719","Primary acquired melanosis",1217,3,"0.7860073215602715"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602"]
["C4304578","1p21.3 microdeletion syndrome",1204,3,"0.9948528701877237"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697"]
["C1865804","Peroxisome Biogenesis Disorder, Complementation Group E",1185,3,"0.8349919383499697"]
["C3151055","ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",1182,3,"0.9993123421193053"]
["C3502131","Adrenal Insufficiency, Congenital",1182,3,"0.9996563911001033"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186"]
["C0432475","XX males",1177,3,"0.2239661574993518"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687"]
["C2931347","Cardiac form of generalized glycogenosis",1172,3,"1.0"]
["C3888924","Glycogen storage disease due to acid maltase deficiency, infantile onset",1172,3,"1.0"]
["C3888925","Pompe\\'s disease adult onset",1172,3,"1.0"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208"]
["C1832243","CARDIOMYOPATHY, DILATED, 1D (disorder)",1169,3,"1.0"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0"]
["C2676271","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)",1169,3,"1.0"]
["C0032027","Pityriasis Rubra Pilaris",1168,3,"0.9995933153685531"]
["C1304140","Familial psoriasis",1168,3,"0.9997966453559083"]
["C1864497","PSORIASIS 2",1168,3,"0.9997966453559083"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939"]
["C0271528","Isosexual precocious puberty",1157,3,"1.0"]
["C3553841","HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA",1157,3,"1.0"]
["C3805879","PRECOCIOUS PUBERTY, CENTRAL, 1",1157,3,"1.0"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614"]
["C2749861","MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)",1148,3,"1.0"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0"]
["C3150172","MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)",1148,3,"1.0"]
["C2749862","Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",1147,3,"0.513921222372273"]
["C3501849","Mngie Without Leukoencephalopathy",1147,3,"0.8595560550091821"]
["C3711125","Mitochondrial DNA Depletion Syndrome 8A",1147,3,"0.8595560550091821"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968"]
["C4476617","Autonomic visceral myopathy",1146,3,"0.9424078499136811"]
["C4476618","Degenerative enteric myopathy",1146,3,"0.9424078499136811"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629"]
["C4015307","PERRAULT SYNDROME 5",1145,3,"0.9991926175330871"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176"]
["C3151221","TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3",1135,3,"0.5597699900588633"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148"]
["C1876171","Polyasplenia",1134,3,"1.0"]
["C1876172","VAH, AUTOSOMAL RECESSIVE",1134,3,"1.0"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989"]
["C2981142","Refractory anemia, without ringed sideroblasts, without excess blasts",1132,3,"-0.19870393161390473"]
["C4015323","LEUKODYSTROPHY, HYPOMYELINATING, 9",1132,3,"0.4915720836967764"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197"]
["C3279824","Kappa-Chain Deficiency",1130,3,"0.6549700904767264"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315"]
["C3495489","Rieger eye malformation sequence",1127,3,"0.8584904938658368"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408"]
["C4073107","Incomplete congenital stationary night blindness",1123,3,"0.9261056152559028"]
["C2677713","Ichthyosis, X-Linked, Complicated",1117,3,"0.9556819931915008"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345"]
["C4274085","Syndromic recessive X-linked ichthyosis",1117,3,"0.9556819931915008"]
["C1852759","Papillorenal syndrome",1115,3,"1.0"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0"]
["C4014925","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7",1115,3,"1.0"]
["C3553989","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",1112,3,"0.2772555109619926"]
["C4015635","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",1112,3,"0.5676995580102657"]
["C4310763","SPINOCEREBELLAR ATAXIA 43",1112,3,"0.10241334539682348"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0"]
["C4225183","BRACHYDACTYLY, TYPE A1, D",1111,3,"1.0"]
["C4225404","ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",1111,3,"1.0"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428"]
["C1300268","Brachydactyly syndrome type C",1110,3,"0.8229665189170458"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0"]
["C3554446","BRACHYDACTYLY, TYPE A1, C",1109,3,"1.0"]
["C3809104","SYMPHALANGISM, PROXIMAL, 1B",1109,3,"1.0"]
["C0175700","Multiple synostosis syndrome",1107,3,"0.7230158543322864"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652"]
["C1861385","SYMPHALANGISM, PROXIMAL",1107,3,"0.28870098984799647"]
["C0263746","Osteoarthritis of the hand",1105,3,"0.2822629998150747"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266"]
["C0002873","Anemia of chronic disease",1103,3,"0.631678303791508"]
["C0034902","Pure Red-Cell Aplasia",1103,3,"0.8017850725574002"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135"]
["C0151449","Primary SjÃ¶gren\\'s syndrome",1102,3,"0.04651040590251926"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424"]
["C1843808","CARDIOMYOPATHY, DILATED, 1M",1090,3,"1.0"]
["C2677491","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",1090,3,"1.0"]
["C4025009","Impaired myocardial contractility",1090,3,"1.0"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226"]
["C2932678","Inherited Peripheral Neuropathy",1084,3,"0.8785976404641749"]
["C1853995","SEIZURES, BENIGN FAMILIAL INFANTILE, 2",1081,3,"0.900833527316034"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048"]
["C1868681","DYSTONIA 12",1080,3,"0.8881787002829464"]
["C3553788","ALTERNATING HEMIPLEGIA OF CHILDHOOD 2",1080,3,"0.8891807681023269"]
["C1865322","MIGRAINE, FAMILIAL HEMIPLEGIC, 2",1077,3,"0.9986309928846427"]
["C1865323","Migraine, Familial Basilar",1077,3,"0.9993483083046233"]
["C3549447","ALTERNATING HEMIPLEGIA OF CHILDHOOD 1",1077,3,"0.9993483083046233"]
["C0270860","Basilar-Type Migraine",1076,3,"0.25261010316084404"]
["C0270862","Hemiplegic migraine",1076,3,"0.5529862300163528"]
["C0338484","Familial Hemiplegic Migraine",1076,3,"0.2339266551635054"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022"]
["C3280443","MYOPATHY, DISTAL, TATEYAMA TYPE",1075,3,"0.4566869391734209"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836"]
["C1850096","Pancreatic Agenesis, Congenital",1069,3,"0.6717798979190753"]
["C0023213","Ventricular Outflow Obstruction, Left",1064,3,"1.0"]
["C0042512","Ventricular Outflow Obstruction",1064,3,"1.0"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0"]
["C0271714","Hypoglycemia, leucine-induced",1062,3,"1.0"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0"]
["C4274080","Autosomal dominant hyperinsulinism due to SUR1 deficiency",1062,3,"1.0"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499"]
["C0085569","Metabolic acidosis, NAG, acidifying salts",1054,3,"0.8628476839644287"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221"]
["C0002891","Anemia, Neonatal",1052,3,"1.0"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0"]
["C2674219","SPHEROCYTOSIS, HEREDITARY, 2",1052,3,"1.0"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341"]
["C3151898","MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",1047,3,"0.5786318294775631"]
["C3278664","LIVER FAILURE, INFANTILE, TRANSIENT",1047,3,"-0.12010217163380388"]
["C0270855","Early myoclonic encephalopathy",1041,3,"0.4467736328480076"]
["C0752324","Focal Tonic Seizures",1041,3,"0.7361462163959118"]
["C4225360","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30",1041,3,"0.4283541506374561"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0"]
["C4014656","CARDIOMYOPATHY, DILATED, 1NN",1033,3,"1.0"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975"]
["C0002884","Hypochromic anemia",1030,3,"0.49288060004750484"]
["C2673913","Anemia, Hypochromic Microcytic, With Iron Overload",1030,3,"0.6277283849723938"]
["C3806153","ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",1030,3,"0.6686264157314609"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789"]
["C0302486","Erythrophagocytosis",1019,3,"0.4640616262681068"]
["C1864648","CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",1019,3,"0.6594294626506643"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126"]
["C0580190","3-Phosphoglycerate dehydrogenase deficiency",1008,3,"0.886596251260698"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698"]
["C0432253","Bruck syndrome",1006,3,"0.7474477853062812"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0"]
["C0745186","hypoventilation syndrome",999,3,"1.0"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953"]
["C0342162","Compensated hypothyroidism",993,3,"0.51635057976103"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821"]
["C1744558","T-lymphocyte deficiency",990,3,"0.7941676321980821"]
["C3150700","MENTAL RETARDATION, AUTOSOMAL DOMINANT 20",985,3,"0.7274649641150404"]
["C4225434","CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",985,3,"0.5370699789047225"]
["C4304529","5q14.3 microdeletion syndrome",985,3,"0.6635328148757683"]
["C2676727","Chromosome 1q43-Q44 Deletion Syndrome",984,3,"0.8780870026494487"]
["C3808184","MENTAL RETARDATION, AUTOSOMAL DOMINANT 22",984,3,"0.8161607633831922"]
["C4273897","Distal monosomy 1q",984,3,"0.8426823480739919"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562"]
["C1261969","Type I hyperlipidaemia",978,3,"0.939650428157356"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356"]
["C1274228","Chylomicronemia syndrome",977,3,"0.1772955585516702"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897"]
["C4014767","HYPERLIPOPROTEINEMIA, TYPE ID",977,3,"-0.11687904109184909"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475"]
["C0029438","Massive Osteolyses",975,3,"0.9413069601199054"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588"]
["C0002735","Oppenheim\\'s Disease",972,3,"0.6460526699610827"]
["C0027868","Neuromuscular Diseases",972,3,"0.5249161850635937"]
["C0751381","Foley-Denny-Brown Syndrome",972,3,"0.6460526699610827"]
["C0017536","Giardiasis",971,3,"0.7029823815844127"]
["C0398562","Triose phosphate isomerase deficiency",971,3,"0.8154253186796703"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703"]
["C3809006","CARDIOFACIOCUTANEOUS SYNDROME 3",968,3,"-0.044681902698250266"]
["C4073145","Hyperkeratosis pilaris",968,3,"0.6092016001181005"]
["C4225282","NOONAN SYNDROME 9",968,3,"0.3194107486488001"]
["C1842675","AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)",959,3,"0.6233561816196592"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964"]
["C3539195","TREMOR, HEREDITARY ESSENTIAL, 4",959,3,"0.8203467912697964"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956"]
["C1997740","Segmental dystonia",950,3,"0.43799549855031084"]
["C2875058","Familial torsion dystonia",950,3,"0.5394380145597845"]
["C0154676","Organic writer\\'s cramp",948,3,"0.14318091640411917"]
["C1834570","Myoclonic dystonia",948,3,"0.5935597966934463"]
["C3697670","Spinal cord myoclonus",948,3,"0.5457101255958811"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906"]
["C4540439","RETINITIS PIGMENTOSA 80",937,3,"0.9560038819681063"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435"]
["C1865643","Cholestasis, progressive familial intrahepatic 3",929,3,"0.9995862957698269"]
["C2609268","Low phospholipid-associated cholelithiasis",929,3,"0.9991717793595999"]
["C3554241","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",929,3,"0.9995862957698269"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518"]
["C0409974","Lupus Erythematosus",921,3,"0.8960764006613194"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967"]
["C4310613","POLYCYSTIC LIVER DISEASE 1",916,3,"0.28097223288324835"]
["C4310769","POLYCYSTIC LIVER DISEASE 2",916,3,"0.3010032353390605"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121"]
["C0267834","Liver cyst",915,3,"0.3012900130798916"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0"]
["C1847903","Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",914,3,"1.0"]
["C3809272","LETHAL CONGENITAL CONTRACTURE SYNDROME 5",914,3,"1.0"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0"]
["C2678476","Cardiomyopathy, Dilated, 1y",907,3,"1.0"]
["C3808145","LEFT VENTRICULAR NONCOMPACTION 9",907,3,"1.0"]
["C1836448","Nemaline myopathy 1",906,3,"1.0"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0"]
["C3714994","CAP MYOPATHY 1",906,3,"1.0"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309"]
["C1836447","Nemaline myopathy 4",904,3,"1.0"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0"]
["C3807907","CAP MYOPATHY 2",904,3,"1.0"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973"]
["C3150703","FRONTONASAL DYSPLASIA 2",899,3,"0.7487890370512973"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385"]
["C3810041","ALZHEIMER DISEASE 18",897,3,"0.5402396229866435"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0"]
["C4024872","Progressive reticulate hyperpigmentation",896,3,"1.0"]
["C0343111","Naegeli syndrome",895,3,"1.0"]
["C3715082","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",895,3,"1.0"]
["C4021831","Hypohidrosis or hyperhidrosis",895,3,"1.0"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934"]
["C2936861","Cortisol 11-beta-ketoreductase deficiency",893,3,"0.9460125033708048"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191"]
["C1855038","Hepatocellular necrosis",881,3,"0.7549663395038722"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017"]
["C0748540","Scleroderma, Limited",878,3,"0.8699461372542555"]
["C1258104","Diffuse Scleroderma",878,3,"0.7959991160811233"]
["C0406556","Hereditary acrokeratotic poikiloderma of Weary",875,3,"0.9998800359880042"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676"]
["C4024863","Diffuse skin atrophy",875,3,"0.9998800359880042"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952"]
["C2678048","Spinocerebellar Ataxia, X-Linked 5",873,3,"0.12215868177455817"]
["C1852577","FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)",865,3,"0.7686061981518031"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736"]
["C0339534","Usher syndrome type 2",864,3,"0.38304931576176277"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602"]
["C1848639","USHER SYNDROME, TYPE IA, FORMERLY",861,3,"0.9812096156815548"]
["C1848640","USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY",861,3,"0.9812096156815548"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0"]
["C0270736","Essential Tremor",852,3,"0.5464091227042035"]
["C0393615","Familial Tremor",852,3,"0.6111263431041652"]
["C3810400","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19",852,3,"0.08425671391134876"]
["C1836522","Schindler Disease, Type II",851,3,"1.0"]
["C1836544","Schindler Disease, Type I",851,3,"1.0"]
["C1836545","Schindler Disease, Type III",851,3,"1.0"]
["C0019099","Hemorrhagic Fever, Crimean",845,3,"0.8495692779949102"]
["C2062416","Sindbis virus infection",845,3,"0.46344353527434035"]
["C4015293","IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION",845,3,"0.8495692779949102"]
["C0032461","Polycythemia",844,3,"0.3964866500659292"]
["C0152264","Familial erythrocytosis",844,3,"0.16401170177288724"]
["C1868945","Polyglobulia",844,3,"-0.04673501290061726"]
["C0268405","Hemodialysis-associated amyloidosis",843,3,"0.9995847969407822"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562"]
["C4302669","Autosomal dominant beta2-microglobulinic amyloidosis",843,3,"0.9995847969407822"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323"]
["C1861827","Cataract, Nuclear Diffuse Nonprogressive",835,3,"1.0"]
["C3805411","CATARACT 30",835,3,"1.0"]
["C4024821","Diffuse nuclear cataract",835,3,"1.0"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807"]
["C1533847","Disorder of skeletal muscle",833,3,"0.2552427363235237"]
["C1844917","Intermittent lactic acidemia",833,3,"0.7452101373728698"]
["C0036310","Scheuermann\\'s Disease",829,3,"0.4999999999999999"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982"]
["C3553660","SOTOS SYNDROME 2",829,3,"0.8200569756647982"]
["C0339651","Horizontal gaze palsy",827,3,"0.9666845092685129"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558"]
["C2062713","Progressive ophthalmoplegia",827,3,"0.9666845092685129"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568"]
["C1838114","Generalized limb muscle atrophy",823,3,"0.38499870284385157"]
["C3150802","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",823,3,"0.7245721207629258"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006"]
["C0221207","Urticaria due to cold",814,3,"1.0"]
["C3280914","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3",814,3,"1.0"]
["C3553961","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",814,3,"1.0"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376"]
["C2930821","Keratitis sicca",798,3,"0.997567866970376"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699"]
["C1272174","Scotopic sensitivity",791,3,"1.0"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0"]
["C0043167","Pertussis",785,3,"0.6912462089672032"]
["C0043168","Whooping cough due to unspecified organism",785,3,"0.28291312439684885"]
["C4015695","LONG QT SYNDROME 15",785,3,"0.547801524240991"]
["C2750466","Cardiomyopathy, Dilated, 1EE",783,3,"1.0"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0"]
["C0085612","Ventricular arrhythmia",782,3,"0.23372798040210413"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972"]
["C2063326","Right ventricular cardiomyopathy",782,3,"0.530577282276811"]
["C0694539","Chronic atrial fibrillation",776,3,"0.3908464338762619"]
["C3279693","ATRIAL FIBRILLATION, FAMILIAL, 11",776,3,"0.5675442384934412"]
["C4021885","Atrial cardiomyopathy",776,3,"0.5675442384934412"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786"]
["C3714580","Hypokalemic periodic paralysis type 1",772,3,"0.6652086315805826"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863"]
["C3151431","ATRIAL FIBRILLATION, FAMILIAL, 9",767,3,"0.8454787802995483"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609"]
["C2732979","Acquired long QT syndrome",766,3,"0.7226407697041758"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609"]
["C0264893","Nodal rhythm disorder",764,3,"0.9999999999999991"]
["C0348626","Other specified cardiac arrhythmias",764,3,"0.9999999999999991"]
["C1399226","Ectopic rhythm",764,3,"0.9999999999999991"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868"]
["C0206525","Tuberculosis, Drug-Resistant",756,3,"0.6568205172927352"]
["C0581384","Chronic anemia",753,3,"1.0"]
["C1142276","Renal anemia",753,3,"1.0"]
["C1442826","Neonatal necrotizing enterocolitis",753,3,"1.0"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806"]
["C0151860","Acquired porencephaly",739,3,"0.7212362652483564"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212"]
["C4082173","Porencephaly",739,3,"0.8350679879689631"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0"]
["C0007194","Hypertrophic Cardiomyopathy",733,3,"0.22620869394767568"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195"]
["C3150909","D-2-HYDROXYGLUTARIC ACIDURIA 2",727,3,"0.3286182771296225"]
["C3152055","D-2-HYDROXYGLUTARIC ACIDURIA 1",727,3,"0.5957431952119965"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298"]
["C3553958","METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA",726,3,"0.6091163941300523"]
["C0263627","Calcinosis universalis",720,3,"0.9898149399542363"]
["C0282102","Chondrodysplasia punctata, X-linked dominant type",720,3,"0.9758431221748454"]
["C4085243","MEND SYNDROME",720,3,"0.9898149399542363"]
["C1290587","Failure of tooth eruption",719,3,"1.0"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0"]
["C1852222","Failure of Tooth Eruption, Primary",719,3,"1.0"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548"]
["C3670629","Orthokeratotic hyperkeratosis",715,3,"0.6939368978354226"]
["C0017612","Glaucoma, Open-Angle",706,3,"0.9176231352915618"]
["C0271148","Secondary Open Angle Glaucoma",706,3,"0.9130639727499217"]
["C0339573","Glaucoma, Primary Open Angle",706,3,"0.8729406052878422"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542"]
["C1408174","Hypertrophic neuropathy of infancy",689,3,"0.9999999999999986"]
["C1408182","Hereditary motor and sensory neuropathy, types I-IV",689,3,"0.9999999999999986"]
["C2875300","Peroneal muscular atrophy (axonal type) (hypertrophic type)",689,3,"0.9999999999999986"]
["C0265010","Ruptured thoracic aortic aneurysm",684,3,"1.0"]
["C0265012","Ruptured abdominal aortic aneurysm",684,3,"1.0"]
["C1305122","Thoracoabdominal aortic aneurysm, ruptured",684,3,"1.0"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213"]
["C3279664","Emberger syndrome",675,3,"1.0"]
["C3280030","GATA2 Deficiency",675,3,"1.0"]
["C3711382","Familial Acute Myeloid Leukemia with Mutated Cebpa",675,3,"1.0"]
["C0030481","Tropical Spastic Paraparesis",669,3,"0.7825710467700424"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169"]
["C4304725","Leber plus disease",666,3,"0.694539227517883"]
["C0031111","Periostitis",665,3,"0.9913935913667882"]
["C0524988","Schnitzler Syndrome",665,3,"0.9888710994603438"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798"]
["C0268618","Cystathioninemia",651,3,"0.6261277013972278"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008"]
["C0002874","Aplastic Anemia",649,3,"0.5901995607011472"]
["C0178416","Hypoplastic anemia",649,3,"0.6198763860470586"]
["C0348890","Aplastic anemia, idiopathic",649,3,"0.45142364766888704"]
["C0038605","Subungual hyperkeratosis",647,3,"0.12349593724483938"]
["C2609071","Olmsted syndrome",647,3,"0.6115441670349493"]
["C4225339","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",647,3,"0.6389246684184573"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879"]
["C4024788","Anterior chamber synechiae",645,3,"0.6250101944893658"]
["C0022904","Lacrimal Apparatus Diseases",644,3,"0.776674791710952"]
["C0152227","Excessive tearing",644,3,"0.5102236067263464"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952"]
["C4225370","MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",635,3,"1.0"]
["C4225371","MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",635,3,"1.0"]
["C4225372","MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",635,3,"1.0"]
["C0004782","Basal Ganglia Diseases",628,3,"0.8582926301108811"]
["C0015371","Extrapyramidal Disorders",628,3,"0.7655680214129266"]
["C0750951","Lenticulostriate Disorders",628,3,"0.8643775304349076"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249"]
["C2931035","Pulmonary alveolar proteinosis, congenital",622,3,"0.7010064470016536"]
["C3280574","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",622,3,"0.3343465929888127"]
["C0014078","Venezuelan equine encephalomyelitis",620,3,"0.6221572821299786"]
["C0275524","Coinfection",620,3,"0.37299630712862025"]
["C0276623","Chronic viral hepatitis",620,3,"0.6052393843629835"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716"]
["C4310667","ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",616,3,"0.9995469127726716"]
["C0342495","Macronodular adrenal hyperplasia",614,3,"0.5687111613923593"]
["C1857451","Acth-Independent Macronodular Adrenal Hyperplasia",614,3,"-0.05936912691847838"]
["C4014803","ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2",614,3,"0.6554777932173166"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663"]
["C3280402","SCLEROSTEOSIS 2",604,3,"0.9092710230453434"]
["C4225377","MYASTHENIC SYNDROME, CONGENITAL, 17",604,3,"0.9092710230453434"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741"]
["C0038522","Subacute Sclerosing Panencephalitis",597,3,"0.7063493783066593"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035"]
["C0156221","Acute glomerulonephritis",597,3,"0.7890951737804504"]
["C1863534","Stargardt disease 4",590,3,"0.7923232625833374"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782"]
["C0032269","Pneumococcal Infections",588,3,"0.2159556364799022"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705"]
["C1843256","IRAK4 Deficiency",588,3,"-0.14411104728402485"]
["C1862937","AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1",582,3,"0.7179597827326383"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975"]
["C1838644","Stargardt disease 3",578,3,"0.8897922138617702"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565"]
["C3280856","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",578,3,"0.9630267096025565"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448"]
["C3552227","ACHROMATOPSIA 6",577,3,"0.8575898266315448"]
["C3665342","Progressive cone degeneration",577,3,"0.7549496193588813"]
["C0242852","Proliferative vitreoretinopathy",576,3,"0.8723962637600372"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777"]
["C1850109","Vitreoretinopathy",576,3,"0.5911328219081341"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803"]
["C1960459","Hereditary angioedema with normal C1 esterase inhibitor activity",561,3,"0.9853275367424803"]
["C0398775","Hereditary C1 esterase inhibitor deficiency - deficient factor",558,3,"1.0"]
["C0398776","Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",558,3,"1.0"]
["C1852700","Complement Component 4, Partial Deficiency Of",558,3,"1.0"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576"]
["C0342191","Familial dyshormonogenetic goiter",552,3,"0.862527491884882"]
["C0342194","Thyroid Dyshormonogenesis 3",552,3,"0.7827759616504689"]
["C1321809","HYPOTHYROIDISM, GOITROUS",552,3,"0.29301253514214554"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107"]
["C0345244","Neuronal intestinal dysplasia",551,3,"0.9599060098797502"]
["C0878627","Mucosal neuromas",551,3,"0.9599060098797502"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655"]
["C4020801","Respiratory complex II deficiency",543,3,"0.7038195613641884"]
["C4025278","Stress/infection-induced lactic acidosis",543,3,"0.8029417514500117"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884"]
["C3887743","WILMS TUMOR 2",535,3,"0.9993422950979884"]
["C0521648","Neonatal respiratory failure",534,3,"1.0"]
["C1970456","Surfactant Metabolism Dysfunction, Pulmonary, 3",534,3,"1.0"]
["C3161105","Neuroendocrine cell hyperplasia of infancy",534,3,"1.0"]
["C0400914","Acute hepatitis C",531,3,"0.6261110645443679"]
["C3887641","Recurrent hepatitis",531,3,"0.49895779289241626"]
["C4288963","Hepatitis C Virus Infection",531,3,"0.3365397970214199"]
["C3714932","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",518,3,"0.7035716343580917"]
["C3809216","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",518,3,"0.6580359225190742"]
["C3809221","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14",518,3,"0.8170220017721667"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837"]
["C3150413","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",515,3,"0.7043975488648069"]
["C3150411","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",514,3,"0.6411331857370002"]
["C3150416","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2",514,3,"0.807506899125178"]
["C3150418","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",514,3,"0.6914998959080981"]
["C1969024","CARDIOMYOPATHY, DILATED, 1X",512,3,"0.9366599214634904"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904"]
["C2751052","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4",512,3,"0.8331274404615924"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976"]
["C0085652","Pyoderma Gangrenosum",500,3,"0.6918009783286836"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383"]
["C0025289","Meningitis",488,3,"0.4054667660952955"]
["C0030167","Pachymeningitis",488,3,"0.5842891022745549"]
["C0085396","Neisseriaceae Infections",488,3,"0.36184227237429056"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452"]
["C0238339","Hereditary pancreatitis",482,3,"0.679838830712387"]
["C4080064","Autosomal Dominant Hereditary Pancreatitis",482,3,"0.5804737220382183"]
["C0340100","High altitude pulmonary edema",473,3,"0.9623565415098887"]
["C0340552","High altitude pulmonary hypertension",473,3,"0.9820151197518853"]
["C3810403","MOYAMOYA DISEASE 6 WITH ACHALASIA",473,3,"0.9820151197518853"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0"]
["C3541474","ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",458,3,"1.0"]
["C0016052","Fibromuscular Dysplasia",452,3,"0.9238496277384697"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647"]
["C2315541","Diverticulum of renal calyx",452,3,"0.9238496277384697"]
["C2751316","Glaucoma 3, Primary Congenital, D",447,3,"1.0"]
["C3538951","MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",447,3,"1.0"]
["C3553785","WEILL-MARCHESANI SYNDROME 3",447,3,"1.0"]
["C0339578","Corticosteroid-induced glaucoma",445,3,"0.8538617180604857"]
["C1842028","GLAUCOMA 1, OPEN ANGLE, A",445,3,"0.5674554783513097"]
["C4068743","Juvenile open angle",445,3,"0.9064004855289406"]
["C1856439","GLAUCOMA 3, PRIMARY CONGENITAL, A",444,3,"0.2380619977083376"]
["C2981140","Glaucoma of childhood",444,3,"0.41241971712338665"]
["C3278153","GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",444,3,"0.7011851234458101"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217"]
["C4015146","RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES",435,3,"0.998645617247303"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398"]
["C2677774","Age-Related Macular Degeneration type 11",433,3,"0.7150800102457622"]
["C1704299","Hypobetalipoproteinemia, Familial, Apolipoprotein B",432,3,"0.9924597476952364"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181"]
["C3888316","Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B",432,3,"0.9924597476952364"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225"]
["C0268323","Familial porphyria cutanea tarda",429,3,"0.9461494793810225"]
["C0342861","Uroporphyrinogen decarboxylase deficiency",429,3,"0.8874155545355793"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0"]
["C0856742","Post MI",423,3,"0.6130718739759924"]
["C1959859","Acute lyme disease",423,3,"0.7717929577686702"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702"]
["C1864851","Pigmented Nodular Adrenocortical Disease, Primary, 2",422,3,"0.4005477155037526"]
["C4025760","Primary hypercorticolism",422,3,"0.4160512167133256"]
["C4304832","Primary pigmented nodular adrenocortical disease",422,3,"0.41926813142409314"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364"]
["C2675059","Refractory macrocytic anemia",401,3,"0.7833326365550884"]
["C0391816","Tietz syndrome",396,3,"1.0"]
["C1860339","WAARDENBURG SYNDROME, TYPE IIA",396,3,"1.0"]
["C4310625","COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",396,3,"1.0"]
["C0221228","Comedone",388,3,"0.2997783391966423"]
["C3280309","ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",388,3,"0.8370005939492603"]
["C4310760","LETHAL CONGENITAL CONTRACTURE SYNDROME 10",388,3,"0.8370005939492603"]
["C1843181","Noonan syndrome-like disorder with loose anagen hair",386,3,"1.0"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0"]
["C4478716","NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1",386,3,"1.0"]
["C1969342","PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",383,3,"0.9868324341050282"]
["C1969343","Pulmonary Hypertension, Primary, Fenfluramine-Associated",383,3,"0.993366345217903"]
["C3714844","Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",383,3,"0.993366345217903"]
["C0456702","Severe childhood autosomal recessive muscular dystrophy",372,3,"0.5271687596976515"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178"]
["C0085077","Sweet Syndrome",367,3,"0.953678479718495"]
["C0472762","Alpha trait thalassemia",367,3,"0.818970631667975"]
["C4016158","ALPHA-THALASSEMIA, HMONG TYPE",367,3,"0.953678479718495"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603"]
["C2873756","Severe beta thalassemia",365,3,"0.9386566716242557"]
["C3665425","Hemoglobin M Disease",365,3,"0.9317457366317579"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897"]
["C0472767","Beta thalassemia intermedia",364,3,"0.1724637368799377"]
["C4274391","Dominant beta-thalassemia",364,3,"0.6207944424505132"]
["C4290090","diabetes (mellitus) due to autoimmune process",360,3,"0.9999999999999989"]
["C4290091","diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction",360,3,"0.9999999999999989"]
["C4290092","idiopathic diabetes (mellitus)",360,3,"0.9999999999999989"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0"]
["C4084823","MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",355,3,"1.0"]
["C4225405","MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",355,3,"1.0"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225"]
["C1838313","Pick Complex",345,3,"0.6843124998593689"]
["C0038368","Stomatognathic Diseases",342,3,"0.9999999999999989"]
["C1704330","Dental Diseases",342,3,"0.9999999999999989"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989"]
["C0271846","Familial hyperparathyroidism",335,3,"0.6671952657434286"]
["C1840402","HYPERPARATHYROIDISM 1",335,3,"0.4071805099846771"]
["C1864729","HYPERPARATHYROIDISM 3",335,3,"0.6642752246845705"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0"]
["C2609259","Symphysis Pubis Dysfunction",334,3,"1.0"]
["C4310807","BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME",334,3,"1.0"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862"]
["C1832648","Hypoparathyroidism familial isolated",331,3,"0.8584214123250228"]
["C1840334","Hypoparathyroidism, Autosomal Recessive",331,3,"0.7384861939472478"]
["C1843244","EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2",325,3,"0.7528190837205182"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085"]
["C0751122","Infantile Severe Myoclonic Epilepsy",322,3,"0.18096337931088682"]
["C0752323","Focal Clonic Seizures",322,3,"0.6149643692687011"]
["C4023511","Obtundation status",322,3,"0.6649472954377083"]
["C2748541","Brugada Syndrome 5",320,3,"1.0"]
["C3809311","ATRIAL FIBRILLATION, FAMILIAL, 13",320,3,"1.0"]
["C4479236","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52",320,3,"1.0"]
["C1853345","Generalized Epilepsy With Febrile Seizures Plus, Type 4",319,3,"0.9558758559257231"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022"]
["C3151191","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",319,3,"0.9558758559257231"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248"]
["C2748518","Lumbar scoliosis",313,3,"0.5772452536497906"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848"]
["C0342541","Precocious pubarche",312,3,"0.4262996437255822"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0"]
["C4014962","FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG",311,3,"1.0"]
["C4274078","Hyperinsulinism due to HNF4A deficiency",311,3,"1.0"]
["C1709353","Osteofibrous Dysplasia",310,3,"0.996624613942208"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486"]
["C4084709","DEAFNESS, AUTOSOMAL RECESSIVE 97",310,3,"0.998311106158486"]
["C0019372","Herpesviridae Infections",303,3,"0.5875335653359417"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422"]
["C0037140","B Virus Infection",303,3,"0.5876875690390145"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754"]
["C3807295","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",301,3,"0.8967891029535924"]
["C0796122","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome",300,3,"0.027748819518484326"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968"]
["C3280168","NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",299,3,"0.1466285677888863"]
["C3280283","MENTAL RETARDATION, AUTOSOMAL DOMINANT 9",299,3,"0.5955823061584353"]
["C1839602","Neuropathy, Hereditary Sensory, X-Linked",297,3,"1.0"]
["C1842586","Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",297,3,"1.0"]
["C1850384","Neuropathy, Hereditary Sensory, Atypical",297,3,"1.0"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447"]
["C0751540","Morvan\\'s Disease",293,3,"0.7890591451917791"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796"]
["C3875161","Anterior pituitary hormone deficiency",284,3,"0.7666949360137796"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236"]
["C0342384","Idiopathic hypogonadotropic hypogonadism",275,3,"0.17421961945359982"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394"]
["C0269209","Hydrometrocolpos",272,3,"0.4693343490007862"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0"]
["C1863371","BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY",271,3,"1.0"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595"]
["C0010930","Dacryocystitis",267,3,"0.7173204998084639"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578"]
["C0948060","Iridocele",267,3,"0.8255745980932205"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975"]
["C0149877","Hypoglycemic encephalopathy",264,3,"1.0"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0"]
["C1864948","Hyperinsulinemic Hypoglycemia, Familial, 4",264,3,"1.0"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853"]
["C3554449","MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",260,3,"0.8375518442369936"]
["C4539767","EXUDATIVE VITREORETINOPATHY 7",260,3,"0.9367837382438853"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849"]
["C4085252","PAGET DISEASE OF BONE 3",250,3,"1.0"]
["C4225326","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3",250,3,"1.0"]
["C4310693","NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",250,3,"1.0"]
["C1963905","Infantile free sialic acid storage disease",249,3,"1.0"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0"]
["C2931872","Free sialic acid storage disease",249,3,"1.0"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706"]
["C2931471","Sialuria, French type",246,3,"0.7348478907662926"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238"]
["C0559470","Allergy to peanuts",245,3,"0.938525446752615"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0"]
["C4274307","Hypoplastic tibia and postaxial polydactyly syndrome",238,3,"1.0"]
["C0022783","Vulvar Lichen Sclerosus",232,3,"0.7311292287761382"]
["C0023652","Lichen Sclerosus et Atrophicus",232,3,"0.56220929744473"]
["C0950124","Disease due to Papilloma virus",232,3,"0.43494557468927125"]
["C1832814","Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant",230,3,"1.0"]
["C3806402","EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION",230,3,"1.0"]
["C3806403","Continuous spike and waves during slow sleep",230,3,"1.0"]
["C0343047","Complement component 5 deficiency",226,3,"1.0"]
["C3810402","ECULIZUMAB, POOR RESPONSE TO",226,3,"1.0"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0"]
["C0010246","Coxsackievirus Infections",223,3,"0.39862949737194436"]
["C0027059","Myocarditis",223,3,"0.31942533247535854"]
["C0869523","Carditis",223,3,"0.5032068956524463"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926"]
["C0796224","MENTAL RETARDATION, X-LINKED 18",220,3,"0.78215150987722"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077"]
["C3888244","AICARDI-GOUTIERES SYNDROME 7",209,3,"0.652794315815637"]
["C4225427","SINGLETON-MERTEN SYNDROME 1",209,3,"0.8288622551983255"]
["C0456097","Congenital viral disease",207,3,"0.9610102910404928"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823"]
["C3280721","CHILBLAIN LUPUS 2",207,3,"0.9610102910404928"]
["C0393591","AICARDI-GOUTIERES SYNDROME",205,3,"0.6241787237771206"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253"]
["C2919166","Autosomal dominant focal segmental glomerulosclerosis",195,3,"0.6037754305541225"]
["C4049702","Focal Segmental Glomerulosclerosis, Not Otherwise Specified",195,3,"-0.09030889677372743"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364"]
["C3715156","AMYOTROPHIC LATERAL SCLEROSIS 20",187,3,"0.9389039000347364"]
["C3809469","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3",187,3,"0.7697707142525831"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043"]
["C3151403","AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA",186,3,"0.8640737966493615"]
["C4225244","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",186,3,"0.8640737966493615"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0"]
["C2930826","Acute malaria",175,3,"1.0"]
["C3825986","Meningitis in children",175,3,"1.0"]
["C3151443","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",171,3,"1.0"]
["C3151444","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4",171,3,"1.0"]
["C3553617","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1",171,3,"1.0"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915"]
["C0034535","Radiation Syndrome",168,3,"0.7596362438178388"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388"]
["C0003969","Ascorbic Acid Deficiency",164,3,"0.9765319805014785"]
["C3279786","ANHAPTOGLOBINEMIA",164,3,"0.9539726447270853"]
["C3279787","HYPOHAPTOGLOBINEMIA (disorder)",164,3,"0.9765319805014785"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559"]
["C3714757","Juvenile rheumatoid arthritis",149,3,"0.2129721415189397"]
["C0264969","Aneurysm of celiac artery",146,3,"1.0"]
["C0742747","High-output congestive heart failure",146,3,"1.0"]
["C4023119","Mesenteric artery aneurysm",146,3,"1.0"]
["C0029804","Other specified hemorrhagic conditions",143,3,"0.9684189356577974"]
["C0340804","Hereditary vascular fragility",143,3,"0.9684189356577974"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394"]
["C3806737","DEAFNESS, X-LINKED 6",141,3,"0.329413822965663"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891"]
["C0035579","Rickets",126,3,"0.26626137724990145"]
["C0221468","Vitamin D-dependent rickets",126,3,"0.5233397422833072"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874"]
["C0023283","Leishmaniasis, Cutaneous",123,3,"0.984115708481451"]
["C0086540","Leishmaniasis, New World",123,3,"0.9930968578826108"]
["C0086541","Urban cutaneous leishmaniasis",123,3,"0.9930968578826108"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057"]
["C0024205","Lymphadenitis",113,3,"0.8360195077066253"]
["C1837023","CATARACT, CONGENITAL, CERULEAN TYPE, 3",111,3,"1.0"]
["C3540850","CATARACT 4, MULTIPLE TYPES",111,3,"1.0"]
["C3888390","Cataract, Punctate, Progressive Juvenile-Onset",111,3,"1.0"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048"]
["C0014179","Endometritis",110,3,"0.9940982941196048"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347"]
["C0157917","Pauciarticular juvenile rheumatoid arthritis",106,3,"0.31631902783291815"]
["C0221052","Chronic berylliosis",106,3,"0.5959839981607429"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174"]
["C0014324","Entamoebiasis",100,3,"0.6206861661801247"]
["C0151332","Active tuberculosis",100,3,"0.2215154056623684"]
["C4316791","Entamoeba histolytica Infection",100,3,"0.6206861661801247"]
["C0001828","Agricultural Workers\\' Diseases",97,3,"1.0"]
["C0019112","Hemorrhoids",97,3,"1.0"]
["C0282550","Persian Gulf Syndrome",97,3,"1.0"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379"]
["C0149642","Cervical lymphadenitis",89,3,"0.7173049458911258"]
["C0149896","Primary gout",89,3,"0.7173049458911258"]
["C3890737","Autoinflammatory Syndrome",89,3,"0.4265838371316969"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345"]
["C1761613","Conjunctival hyperemia",85,3,"0.9814759996404766"]
["C0015974","Periodic fever",84,3,"0.3318934246371938"]
["C3889136","Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome",84,3,"0.6241137905432769"]
["C4268691","Tumor necrosis factor receptor associated periodic syndrome [TRAPS]",84,3,"0.4331845087088078"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038"]
["C0023348","Leprosy, Lepromatous",77,3,"0.6627451881489584"]
["C0868908","Pancolitis",77,3,"0.8013174836134267"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286"]
["C1845604","Recurrent bacterial meningitis",72,3,"0.7930087106074266"]
["C0003615","Appendicitis",68,3,"0.9963609431550348"]
["C0729531","Viral respiratory infection",68,3,"0.9981758517332591"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464"]
["C1863053","Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy",65,3,"0.9798736161185492"]
["C3549448","ALZHEIMER DISEASE, PROTECTION AGAINST",65,3,"0.9798736161185492"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334"]
["C0029400","Osteitis",60,3,"0.49661527345423834"]
["C0263680","Chronic arthritis",60,3,"0.6693095654728507"]
["C2936258","Peri-Implantitis",60,3,"0.6270184777239977"]
["C0029877","Ear Inflammation",57,3,"0.27129105829368555"]
["C0340170","Complicated pneumoconiosis",57,3,"0.20204941957775405"]
["C0699744","Infection of ear",57,3,"0.13495340606489006"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665"]
["C0836924","Thrombocytosis",48,3,"0.5811053997945733"]
["C4273671","Inherited predisposition to essential thrombocythemia",48,3,"0.5768411149998041"]
["C4303761","Familial thrombocytosis",48,3,"0.6496419973713721"]
["C0002351","Altitude Sickness",45,3,"1.0"]
["C2673187","Erythrocytosis, Familial, 4",45,3,"1.0"]
["C4045968","Altitude Hypoxia",45,3,"1.0"]
["C0002063","Alkalosis",40,3,"0.5576724577582384"]
["C0597854","renin induced hypertension",40,3,"0.5829787159870976"]
["C1397307","Cardiac fibrosis",40,3,"0.48008148630983444"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0"]
["C0030807","Pemphigus",30,3,"0.5529733602232959"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965"]
["C1332655","C3 DEFICIENCY",29,3,"1.0"]
["C1969651","Macular Degeneration, Age-Related, 9",29,3,"1.0"]
["C3151071","COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",29,3,"1.0"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296"]
["C4479260","AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",5,3,"0.5695994785299975"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549"]
["C1970051","METABOLIC SYNDROME, PROTECTION AGAINST",0,3,"0.6496303960143336"]
["C2930930","Abdominal obesity metabolic syndrome",0,3,"0.18983250123983675"]
["C1850985","Fragile Site 16p12",2198,2,"1.0"]
["C3149276","CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",2198,2,"1.0"]
["C0796218","MENTAL RETARDATION, X-LINKED 12",2196,2,"1.0"]
["C0796242","MENTAL RETARDATION, X-LINKED 35",2196,2,"1.0"]
["C0600336","Subcorneal pustular dermatosis",2195,2,"1.0"]
["C1274167","IgA pemphigus",2195,2,"1.0"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0"]
["C4310730","TOOTH AGENESIS, SELECTIVE, 8",2194,2,"1.0"]
["C0149756","Fasciitis, Plantar",2193,2,"1.0"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0"]
["C4014291","OOCYTE MATURATION DEFECT 1",2191,2,"0.8716015596375228"]
["C4540205","OOCYTE MATURATION DEFECT 3",2191,2,"0.8716012392107805"]
["C3810349","ALZHEIMER DISEASE 19",2190,2,"1.0"]
["C4540404","SPINOCEREBELLAR ATAXIA 46",2190,2,"1.0"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0"]
["C0549150","Pseudofolliculitis barbae (disorder)",2189,2,"1.0"]
["C0338650","Catatonia, Organic",2186,2,"1.0"]
["C0750992","Catatonia, Malignant",2186,2,"1.0"]
["C0029342","Orthomyxoviridae Infections",2185,2,"1.0"]
["C0276357","Swine influenza",2185,2,"1.0"]
["C1281440","Familial obesity",2184,2,"1.0"]
["C2937224","Constitutional obesity",2184,2,"1.0"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125"]
["C3245525","Familial renal glucosuria",2183,2,"0.9999979019244837"]
["C4304540","1q44 microdeletion syndrome",2182,2,"1.0"]
["C4479319","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54",2182,2,"1.0"]
["C0036093","Salivary Gland Diseases",2181,2,"1.0"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0"]
["C3807873","FOVEAL HYPOPLASIA 2",2180,2,"1.0"]
["C1835845","Mitochondrial Phosphate Carrier Deficiency",2179,2,"1.0"]
["C4024201","Low-output congestive heart failure",2179,2,"1.0"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651"]
["C4225317","ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",2178,2,"0.4299195452999688"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961"]
["C0553757","Olfaction Disorders",2176,2,"1.0"]
["C3888024","Cacosmia",2176,2,"1.0"]
["C4024944","Profound static encephalopathy",2175,2,"1.0"]
["C4225203","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",2175,2,"1.0"]
["C4310663","SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",2174,2,"1.0"]
["C4310664","SUDDEN CARDIAC FAILURE, INFANTILE",2174,2,"1.0"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0"]
["C4310806","CATARACT 47",2173,2,"1.0"]
["C1855055","Microcephaly with spastic quadriplegia",2172,2,"1.0"]
["C4538630","MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS",2172,2,"1.0"]
["C1970414","Osteogenesis Imperfecta, Type V",2171,2,"0.9597158449731907"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112"]
["C3810160","SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",2169,2,"1.0"]
["C3810161","SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",2169,2,"1.0"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563"]
["C4021857","Speckled corneal dystrophy",2168,2,"0.9949909177015215"]
["C0796133","Ramon Syndrome",2167,2,"1.0"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0"]
["C2931893","Lysosomal beta-mannosidase deficiency",2166,2,"1.0"]
["C4048196","beta-Mannosidosis",2166,2,"1.0"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0"]
["C4225666","CHROMOSOME 15q14 DELETION SYNDROME",2165,2,"1.0"]
["C4310678","LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C4310682","INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C3150154","CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",2162,2,"1.0"]
["C3150701","CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",2162,2,"1.0"]
["C4022537","Triangular tongue",2161,2,"1.0"]
["C4225192","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",2161,2,"1.0"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0"]
["C3203738","Fowler syndrome",2159,2,"1.0"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0"]
["C4085582","MENTAL RETARDATION, X-LINKED 102",2158,2,"1.0"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0"]
["C3553625","FACIAL PARESIS, HEREDITARY CONGENITAL, 3",2157,2,"1.0"]
["C0268635","Acyl-CoA dehydrogenase deficiency",2156,2,"1.0"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0"]
["C3151476","MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)",2154,2,"1.0"]
["C3280730","EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",2153,2,"1.0"]
["C3280734","FEBRILE SEIZURES, FAMILIAL, 11",2153,2,"1.0"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0"]
["C3809309","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",2151,2,"1.0"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0"]
["C4225323","BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",2150,2,"1.0"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0"]
["C0220721","CATARACT 46, JUVENILE-ONSET",2147,2,"1.0"]
["C2931791","Cataract Hutterite type",2147,2,"1.0"]
["C0740895","Hypochloremic metabolic alkalosis",2145,2,"1.0"]
["C3151209","HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",2145,2,"1.0"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265"]
["C4014283","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",2144,2,"0.8804662006873856"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0"]
["C3553636","INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",2143,2,"1.0"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807"]
["C0085423","Gram-Negative Bacterial Infections",2141,2,"0.9843319613353985"]
["C0085426","Gram-Positive Bacterial Infections",2141,2,"0.9849174799210693"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0"]
["C4283894","MENTAL RETARDATION, X-LINKED 61",2140,2,"1.0"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0"]
["C3806722","PARKINSONISM WITH SPASTICITY, X-LINKED",2137,2,"1.0"]
["C4539783","SPERMATOGENIC FAILURE 18",2136,2,"1.0"]
["C4539798","CILIARY DYSKINESIA, PRIMARY, 37",2136,2,"1.0"]
["C2751084","Cardiomyopathy, Dilated, 1CC",2134,2,"1.0"]
["C3151267","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",2134,2,"1.0"]
["C2678475","Cardiomyopathy, Dilated, 1z",2133,2,"1.0"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458"]
["C4225239","DESANTO-SHINAWI SYNDROME",2130,2,"1.0"]
["C4225431","CHROMOSOME 10p12-p11 DELETION SYNDROME",2130,2,"1.0"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0"]
["C4310811","MEESTER-LOEYS SYNDROME",2128,2,"1.0"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0"]
["C0398581","T-cell lymphocytosis",2126,2,"1.0"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666"]
["C0263912","Rotator cuff syndrome",2124,2,"0.6795023821736237"]
["C3492944","Lentiginosis Profusa",2124,2,"0.6933365101845443"]
["C3150897","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",2123,2,"1.0"]
["C3151351","DEAFNESS, AUTOSOMAL RECESSIVE 89",2123,2,"1.0"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191"]
["C3808589","IMMUNODEFICIENCY 32A",2121,2,"1.0"]
["C4016741","IMMUNODEFICIENCY 32B",2121,2,"1.0"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0"]
["C4014987","ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",2120,2,"1.0"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531"]
["C4310822","LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY",2118,2,"0.9948979750248561"]
["C0684324","Deficiency of phosphoglycerate kinase",2116,2,"0.9996383171337129"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976"]
["C3150912","CONE-ROD DYSTROPHY 15",2114,2,"1.0"]
["C3552852","RETINITIS PIGMENTOSA 65",2114,2,"1.0"]
["C4310791","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",2112,2,"1.0"]
["C4310792","DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",2112,2,"1.0"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102"]
["C4225418","MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",2111,2,"0.9993562479327174"]
["C3810295","SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",2110,2,"1.0"]
["C4014354","PONTOCEREBELLAR HYPOPLASIA, TYPE 9",2110,2,"1.0"]
["C3502075","Multiple Mitochondrial Dysfunctions Syndrome",2109,2,"0.3408546920892302"]
["C4225348","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4",2109,2,"0.6646486142146268"]
["C3809165","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3",2108,2,"1.0"]
["C4225322","SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",2108,2,"1.0"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0"]
["C4013360","GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",2107,2,"1.0"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0"]
["C3150973","THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)",2106,2,"1.0"]
["C0398593","Specific granule deficiency",2105,2,"0.9882304956667116"]
["C4479548","SPECIFIC GRANULE DEFICIENCY 2",2105,2,"0.9882813290181003"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0"]
["C4310699","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",2101,2,"0.9962469446876268"]
["C4310700","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44",2101,2,"0.9962356915624274"]
["C4022698","Acephalic spermatozoa",2100,2,"1.0"]
["C4310674","SPERMATOGENIC FAILURE 16",2100,2,"1.0"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605"]
["C1867332","Reticular Dystrophy Of Retinal Pigment Epithelium",2097,2,"1.0"]
["C4310680","RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES",2097,2,"1.0"]
["C0220730","Fryns syndrome",2092,2,"1.0"]
["C3279775","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1",2092,2,"1.0"]
["C4015172","SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",2088,2,"1.0"]
["C4310776","RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS",2088,2,"1.0"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863"]
["C2678415","Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency",2087,2,"0.9936009327432678"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0"]
["C3150833","OCCULT MACULAR DYSTROPHY",2086,2,"1.0"]
["C1328339","Dennie-Morgan fold",2084,2,"1.0"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0"]
["C3151206","LEBER CONGENITAL AMAUROSIS 15",2082,2,"1.0"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0"]
["C4539873","MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",2080,2,"1.0"]
["C1321780","Hypomagnesmic tetany",2079,2,"0.9996802237891713"]
["C1865974","Hypomagnesemia 1, Intestinal",2079,2,"0.9996802261627306"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0"]
["C0521839","Influenza-like illness",2076,2,"1.0"]
["C3809543","CILIARY DYSKINESIA, PRIMARY, 22",2076,2,"1.0"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0"]
["C3810405","POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",2075,2,"1.0"]
["C1861821","CATARACT, MARNER TYPE",2074,2,"0.9822017501741636"]
["C3888417","CATARACT 5, MULTIPLE TYPES",2074,2,"0.9829326225666419"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0"]
["C4479651","RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA",2073,2,"1.0"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605"]
["C4084821","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",2070,2,"1.0"]
["C4225400","INTERSTITIAL LUNG AND LIVER DISEASE",2070,2,"1.0"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0"]
["C4305134","Fried syndrome",2067,2,"1.0"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0"]
["C4015349","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",2065,2,"1.0"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0"]
["C3807521","AMYOTROPHIC LATERAL SCLEROSIS 21",2064,2,"1.0"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0"]
["C1968603","Osteopetrosis, Autosomal Recessive 5",2062,2,"1.0"]
["C0700323","Observation of Neuromuscular Block",2060,2,"0.6894349436942794"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501"]
["C0028734","Nocturia",2058,2,"1.0"]
["C0342687","dopamine beta hydroxylase deficiency",2058,2,"1.0"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017"]
["C3809845","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",2056,2,"0.3516426861351214"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764"]
["C3553816","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",2053,2,"1.0"]
["C4521563","SPINOCEREBELLAR ATAXIA 44",2053,2,"1.0"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0"]
["C4225361","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29",2050,2,"1.0"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0"]
["C3280965","CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",2049,2,"1.0"]
["C3280036","MECKEL SYNDROME, TYPE 10",2048,2,"1.0"]
["C4539386","JOUBERT SYNDROME 34",2048,2,"1.0"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0"]
["C3552634","LYMPHOPROLIFERATIVE SYNDROME 1",2046,2,"1.0"]
["C0175696","Congenital cleft larynx and Opitz-Frias syndrome",2045,2,"0.999716883875141"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812"]
["C0263532","Leukonychia punctata",2043,2,"1.0"]
["C3276977","LEUKONYCHIA STRIATUS",2043,2,"1.0"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0"]
["C4015261","POLYENDOCRINE-POLYNEUROPATHY SYNDROME",2038,2,"1.0"]
["C4539881","DEAFNESS, AUTOSOMAL DOMINANT 71",2038,2,"1.0"]
["C3836857","MECKEL SYNDROME, TYPE 8",2037,2,"1.0"]
["C4084841","JOUBERT SYNDROME 24",2037,2,"1.0"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0"]
["C0019693","HIV Infections",2033,2,"0.9449935927616423"]
["C4505456","HIV Coinfection",2033,2,"0.947367065095419"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0"]
["C4284594","BAND HETEROTOPIA",2032,2,"1.0"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695"]
["C1291316","Deficiency of reductase",2021,2,"1.0"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0"]
["C4225321","ZIMMERMANN-LABAND SYNDROME 2",2018,2,"1.0"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193"]
["C0342792","Succinyl-CoA:3-oxoacid CoA transferase deficiency",2016,2,"1.0"]
["C1291422","Deficiency of 3-oxoacid CoA-transferase",2016,2,"1.0"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0"]
["C3151880","NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)",2012,2,"1.0"]
["C1858535","MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)",2011,2,"1.0"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0"]
["C0270857","Epilepsy, Reflex",2009,2,"0.9990926425026795"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0"]
["C3280644","LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",2008,2,"1.0"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652"]
["C0451669","Neuropathy in association with hereditary ataxia",2005,2,"1.0"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0"]
["C1291564","Deficiency of aromatic-L-amino-acid decarboxylase",2004,2,"1.0"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0"]
["C0008029","Cherubism",1999,2,"0.9995212723671753"]
["C0549122","Relative afferent pupillary defect",1999,2,"0.9995212584625025"]
["C3541319","SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",1998,2,"1.0"]
["C3809651","INFANTILE LIVER FAILURE SYNDROME 2",1998,2,"1.0"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728"]
["C1641852","Gelatinous droplike corneal dystrophy",1996,2,"0.9983711423594059"]
["C1862871","ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",1994,2,"0.8825437542729301"]
["C2745963","Kashin-Beck Disease",1994,2,"0.847930898647363"]
["C3281066","USHER SYNDROME, TYPE IIIB",1993,2,"1.0"]
["C4225265","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",1993,2,"1.0"]
["C0085635","Photopsia",1992,2,"1.0"]
["C4479481","RETINITIS PIGMENTOSA 78",1992,2,"1.0"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0"]
["C2931095","Osteogenesis imperfecta, type 7",1991,2,"1.0"]
["C4310779","SPERMATOGENIC FAILURE 15",1990,2,"1.0"]
["C4310782","PREMATURE OVARIAN FAILURE 12",1990,2,"1.0"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0"]
["C4275023","Spinocerebellar ataxia type 10",1989,2,"1.0"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074"]
["C4310658","MYOCLONUS, INTRACTABLE, NEONATAL",1985,2,"0.9930484671440507"]
["C0029408","Degenerative polyarthritis",1984,2,"0.9148291528771603"]
["C0086743","Osteoarthrosis Deformans",1984,2,"0.9189154714954368"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582"]
["C3281192","INFANTILE CEREBELLAR-RETINAL DEGENERATION",1981,2,"1.0"]
["C4225384","OPTIC ATROPHY 9",1981,2,"1.0"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0"]
["C3808166","MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT",1979,2,"1.0"]
["C0272173","Myelokathexis",1978,2,"0.9869468725933866"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0"]
["C3150808","RETINITIS PIGMENTOSA 55",1977,2,"1.0"]
["C4310675","ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",1975,2,"1.0"]
["C4316985","Cerebellar edema",1975,2,"1.0"]
["C4225177","SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1",1973,2,"1.0"]
["C4310736","MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",1973,2,"1.0"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238"]
["C0809936","Branchio-skeleto-genital syndrome",1971,2,"1.0"]
["C0877521","Chronic synovitis",1971,2,"1.0"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232"]
["C2931141","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency",1970,2,"0.993735939153861"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153"]
["C3553645","MYASTHENIC SYNDROME, CONGENITAL, 13",1969,2,"0.9552197774138775"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0"]
["C3150899","PARKINSON DISEASE 5, AUTOSOMAL DOMINANT",1967,2,"1.0"]
["C3809665","SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",1967,2,"1.0"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0"]
["C4310697","FRONTOMETAPHYSEAL DYSPLASIA 2",1966,2,"1.0"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0"]
["C1847667","CARDIOMYOPATHY, DILATED, 1L",1963,2,"1.0"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965"]
["C3892050","DEAFNESS, AUTOSOMAL RECESSIVE 102",1960,2,"0.9805792872846669"]
["C4022756","Profound hearing impairment",1960,2,"0.9758431221748454"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824"]
["C0149696","Food intolerance (disorder)",1958,2,"0.9600138021889058"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418"]
["C0023890","Liver Cirrhosis",1957,2,"0.8876806404745305"]
["C0239946","Fibrosis, Liver",1957,2,"0.8920036166681832"]
["C3553230","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",1956,2,"0.952300868513004"]
["C3809160","SHAHEEN SYNDROME",1956,2,"0.9517879856932137"]
["C0034951","Refractive Errors",1954,2,"0.6804215250225317"]
["C1527310","Ametropia",1954,2,"0.5606393009725587"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818"]
["C3469542","FANCONI ANEMIA, COMPLEMENTATION GROUP P",1953,2,"0.45072110575490854"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231"]
["C1824925","DEAFNESS, AUTOSOMAL RECESSIVE 70",1951,2,"0.960444629476515"]
["C3554129","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13",1951,2,"0.9597183910999514"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093"]
["C4015597","MYASTHENIC SYNDROME, CONGENITAL, 14",1950,2,"0.9351499839718267"]
["C3550904","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36",1949,2,"0.9992390690722684"]
["C4317295","Congenital disorder of glycosylation type 1s",1949,2,"0.9992388540617094"]
["C0027612","Congenital, Hereditary, and Neonatal Diseases and Abnormalities",1947,2,"0.9986497212960793"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0"]
["C0006111","Brain Diseases",1945,2,"0.8224639816105657"]
["C0085584","Encephalopathies",1945,2,"0.8326211128565733"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0"]
["C1866257","Peroxisome Biogenesis Disorder, Complementation Group K",1938,2,"1.0"]
["C3554004","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)",1938,2,"1.0"]
["C4083048","SPONDYLOCOSTAL DYSOSTOSIS 5",1934,2,"0.8079663270928997"]
["C4274761","Autosomal dominant spondylocostal dysostosis",1934,2,"0.8335519858943492"]
["C1852521","Spondylocostal Dysostosis 4, Autosomal Dominant",1932,2,"0.380214281887591"]
["C3150942","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",1932,2,"0.3203474161409904"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0"]
["C4015371","MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT",1930,2,"1.0"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885"]
["C4020911","Herpetiform corneal ulceration",1923,2,"0.7744797493416075"]
["C3150705","FOXG1 syndrome",1921,2,"1.0"]
["C4305240","14q12 microdeletion syndrome",1921,2,"1.0"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546"]
["C3554349","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",1920,2,"0.4019411527173876"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844"]
["C1969644","Cataract, Cortical, Juvenile-Onset",1918,2,"1.0"]
["C3808107","CATARACT 33, MULTIPLE TYPES",1918,2,"1.0"]
["C0016037","Fibrodysplasia Ossificans Progressiva",1917,2,"0.937027148580973"]
["C0027122","Myositis Ossificans",1917,2,"0.9541993806119232"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556"]
["C3280556","PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",1916,2,"0.9486011868150879"]
["C3554168","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14",1915,2,"0.9594478719131199"]
["C4310750","SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",1915,2,"0.9595564828919343"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272"]
["C4024779","Marginal corneal dystrophy",1914,2,"0.9997988212639636"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0"]
["C4225281","RETINITIS PIGMENTOSA 74",1912,2,"1.0"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0"]
["C3151107","RETINITIS PIGMENTOSA 40 (disorder)",1911,2,"1.0"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0"]
["C3150715","RETINITIS PIGMENTOSA 51",1910,2,"1.0"]
["C1855305","Ter Haar syndrome",1908,2,"1.0"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0"]
["C3151781","CK SYNDROME",1904,2,"1.0"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0"]
["C4225329","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25",1899,2,"1.0"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0"]
["C4225345","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",1896,2,"1.0"]
["C0221237","Angular cheilitis",1894,2,"1.0"]
["C4225381","PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",1894,2,"1.0"]
["C1272352","Deficiency of vitamin D3",1891,2,"0.4400455048729931"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0"]
["C0342728","3-Methylglutaconic aciduria type 1",1889,2,"1.0"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521"]
["C2751811","Spermatogenic Failure 7",1887,2,"0.4389480052211166"]
["C4225337","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33",1886,2,"1.0"]
["C4225343","MENTAL RETARDATION, AUTOSOMAL DOMINANT 38",1886,2,"1.0"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0"]
["C0085399","Ehrlichiosis",1883,2,"1.0"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0"]
["C1319860","Sendai virus infection",1882,2,"0.5513291578680211"]
["C1558931","Flu-Like Syndrome Adverse Event",1882,2,"0.6429747773225882"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0"]
["C4274732","Ischio-vertebral syndrome",1878,2,"1.0"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155"]
["C3280452","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",1873,2,"1.0"]
["C4015519","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",1873,2,"1.0"]
["C0398564","Deficiency of adenylate kinase",1870,2,"1.0"]
["C2675459","Adenylate Kinase Deficiency, Hemolytic Anemia Due To",1870,2,"1.0"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0"]
["C1861101","THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT",1865,2,"1.0"]
["C0020097","HTLV-I Infections",1864,2,"0.5241517128506971"]
["C1260874","Infective dermatitis",1864,2,"0.6616355314469539"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238"]
["C2732267","Auditory neuropathy spectrum disorder",1862,2,"0.902617382239077"]
["C1704436","Peripheral Arterial Diseases",1860,2,"0.38424296801974117"]
["C4304539","20p12.3 microdeletion syndrome",1860,2,"0.3390729342062795"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663"]
["C3809824","PARKINSON DISEASE 20, EARLY-ONSET",1849,2,"1.0"]
["C4479313","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53",1849,2,"1.0"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0"]
["C3151056","SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",1843,2,"0.8432220061304524"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993"]
["C0268464","Transient hyperphenylalaninemia",1839,2,"0.3363570533779135"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402"]
["C3151355","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A",1836,2,"1.0"]
["C3151356","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION",1836,2,"1.0"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0"]
["C3151461","LISSENCEPHALY 4",1835,2,"1.0"]
["C1857342","Deafness, Cochlear, with Myopia and Intellectual Impairment",1834,2,"1.0"]
["C3806275","DEAFNESS AND MYOPIA",1834,2,"1.0"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934"]
["C0155728","Other specified transient cerebral ischemias",1832,2,"0.9204860580043087"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063"]
["C2675186","LEBER CONGENITAL AMAUROSIS 13",1828,2,"0.9844482350661028"]
["C3150208","RETINITIS PIGMENTOSA 53",1828,2,"0.9844174981586188"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616"]
["C0155567","Rheumatic aortic stenosis",1824,2,"0.5919890323990766"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741"]
["C0400966","Non-alcoholic Fatty Liver Disease",1822,2,"0.9651929936931013"]
["C3241937","Nonalcoholic Steatohepatitis",1822,2,"0.966623355139347"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716"]
["C0348932","Other specified diabetes mellitus with unspecified complications",1818,2,"0.8854110834335897"]
["C3532239","Mitochondrial cardiomyopathy",1816,2,"1.0"]
["C4310690","MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)",1816,2,"1.0"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0"]
["C3714897","SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",1813,2,"1.0"]
["C3539920","ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1812,2,"0.9971926212392787"]
["C3541517","ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",1812,2,"0.9973417841950787"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246"]
["C3554687","IL21R IMMUNODEFICIENCY",1808,2,"1.0"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0"]
["C3809356","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",1807,2,"1.0"]
["C3809369","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2",1807,2,"1.0"]
["C3275508","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",1805,2,"1.0"]
["C3806670","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1",1805,2,"1.0"]
["C0018824","Heart valve disease",1800,2,"0.468320665397619"]
["C0263628","Tumoral calcinosis",1800,2,"0.48046789900471765"]
["C0599973","Waardenburg Anophthalmia Syndrome",1799,2,"0.9351312529556339"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709"]
["C0559469","Allergy to eggs",1798,2,"1.0"]
["C4015316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",1798,2,"1.0"]
["C3501647","Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",1797,2,"1.0"]
["C4025283","Compensated hemolytic anemia",1797,2,"1.0"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413"]
["C2316810","Chronic kidney disease stage 5",1794,2,"0.5745825559846915"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573"]
["C0035305","Retinal Detachment",1787,2,"0.6122910704788862"]
["C0339546","Retinal Pigment Epithelial Detachment",1787,2,"0.6155897910275362"]
["C0494559","Diseases of inner ear",1786,2,"1.0"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616"]
["C3550903","CORNELIA DE LANGE SYNDROME 5",1785,2,"0.29742385892933076"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267"]
["C3151752","NYSTAGMUS 6, CONGENITAL, X-LINKED",1782,2,"0.9779609451758826"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402"]
["C1848651","Al Awadi syndrome",1778,2,"1.0"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0"]
["C1867923","Posterior column ataxia",1776,2,"1.0"]
["C0432328","Xeroderma pigmentosum, variant form",1773,2,"1.0"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0"]
["C0152915","Acute miliary tuberculosis",1772,2,"1.0"]
["C4013949","IMMUNODEFICIENCY 30",1772,2,"1.0"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0"]
["C4284088","MIRAGE SYNDROME",1770,2,"1.0"]
["C0021831","Intestinal Diseases",1769,2,"0.16045635888817433"]
["C0041582","Ulcer",1769,2,"0.30176868286225256"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853"]
["C0267557","Secretory diarrhea",1766,2,"0.5275118889809377"]
["C2678346","Diarrhea 3, Secretory Sodium, Congenital, Syndromic",1766,2,"0.6741573365128385"]
["C0013363","Dysautonomia",1764,2,"0.6671654799032101"]
["C1145628","Autonomic nervous system disorders",1764,2,"0.3421901059201606"]
["C0009782","Connective Tissue Diseases",1763,2,"0.5214293159438249"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129"]
["C1860405","Snowflake vitreoretinal degeneration",1762,2,"0.9991353388790598"]
["C3280062","LEBER CONGENITAL AMAUROSIS 16",1762,2,"0.9991355169469426"]
["C0021843","Intestinal Obstruction",1759,2,"0.4246850904909229"]
["C1859047","CYSTIC FIBROSIS MODIFIER 1",1759,2,"0.5371449152882891"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971"]
["C0005806","Blood Group Incompatibility",1757,2,"0.8117784679370667"]
["C0860218","ABO incompatibility",1757,2,"0.800208731510822"]
["C0010474","Curling Ulcer",1756,2,"0.9221385845809931"]
["C0013295","Duodenal Ulcer",1756,2,"0.9243479921850533"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483"]
["C0026650","Movement Disorders",1754,2,"0.8255199927423146"]
["C0266487","Etat Marbre",1754,2,"0.8114893949278197"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886"]
["C2930898","Benign essential blepharospasm",1749,2,"0.6380295298670042"]
["C3150801","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",1744,2,"0.9405416247051087"]
["C3539506","SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",1744,2,"0.9400269311959818"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0"]
["C1409412","Periostosis",1741,2,"1.0"]
["C3280800","HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",1741,2,"1.0"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099"]
["C4539985","CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",1738,2,"0.9881727607209994"]
["C0235222","Diastolic hypertension",1737,2,"0.324754344661128"]
["C1837739","Hypertension, Diastolic, Resistance to",1737,2,"0.5843464757410313"]
["C0393933","Pseudomyopathic myasthenia",1734,2,"1.0"]
["C3552335","MYASTHENIC SYNDROME, CONGENITAL, 12",1734,2,"1.0"]
["C0014867","Esophageal Varices",1733,2,"0.6350096126274755"]
["C0017145","Gastric Varix",1733,2,"0.6760817366349227"]
["C0149821","ACUTE ALCOHOL WITHDRAWAL",1731,2,"0.6741994823480865"]
["C3554691","HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2",1731,2,"0.6653230555327193"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765"]
["C0039128","Syphilis",1727,2,"0.375610952098552"]
["C4310772","NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",1727,2,"0.32760471436713395"]
["C1969639","Cardiomyopathy, Dilated, 1w",1725,2,"1.0"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0"]
["C0948441","Venoocclusive disease",1724,2,"0.2574309206206856"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532"]
["C0270921","Axonal neuropathy",1720,2,"0.9135486148895609"]
["C1263857","Peripheral axonal neuropathy",1720,2,"0.9132666940481179"]
["C3810175","SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",1719,2,"0.9962600971483832"]
["C4225342","RETINITIS PIGMENTOSA 71",1719,2,"0.9962491437281913"]
["C0265245","Nager syndrome",1718,2,"1.0"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712"]
["C2752072","Cardiomyopathy, Dilated, 1BB",1714,2,"0.9959411723834988"]
["C0162830","Dermatitis, Phototoxic",1711,2,"1.0"]
["C1527358","Phototoxicity",1711,2,"1.0"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011"]
["C1838656","Macrocytosis, Familial",1704,2,"1.0"]
["C4015537","THROMBOCYTOPENIA 5",1704,2,"1.0"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978"]
["C0339063","Cellulitis of eyelid",1695,2,"0.9999999999999978"]
["C0238044","Concentric hypertrophic cardiomyopathy",1693,2,"0.5837644351220689"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0"]
["C4225313","BETHLEM MYOPATHY 2",1690,2,"1.0"]
["C4225314","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2",1690,2,"1.0"]
["C0948245","Cytokine release syndrome",1689,2,"1.0"]
["C3150738","Antibody Deficiency due to Defect in CD19",1689,2,"1.0"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988"]
["C4024972","Symmetrical progressive peripheral demyelination",1687,2,"0.9893212140445037"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0"]
["C2748055","Hypoinsulinaemia (disorder)",1682,2,"1.0"]
["C4015710","TENORIO SYNDROME",1682,2,"1.0"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0"]
["C1840284","LEBER CONGENITAL AMAUROSIS 11",1679,2,"1.0"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526"]
["C0342770","Fumarase deficiency",1677,2,"1.0"]
["C2936826","Fumaric aciduria",1677,2,"1.0"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0"]
["C1533587","Hydroxymethylglutaric aciduria",1674,2,"1.0"]
["C0014394","Enuresis",1671,2,"0.20966635890501764"]
["C3554520","UROFACIAL SYNDROME 2",1671,2,"0.4159675632417093"]
["C1866259","Peroxisome Biogenesis Disorder, Complementation Group 13",1670,2,"0.7716336185757453"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262"]
["C3554000","PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)",1669,2,"0.9012942939516393"]
["C3554001","PEROXISOME BIOGENESIS DISORDER 11B",1669,2,"0.8016209522598845"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661"]
["C4275170","Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1",1668,2,"0.9167319571695101"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0"]
["C4310824","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",1666,2,"1.0"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807"]
["C1858679","CATARACT, AUTOSOMAL DOMINANT",1658,2,"0.9880133262157748"]
["C3888098","Cataract, Autosomal Recessive Congenital 1",1658,2,"0.98816940786915"]
["C0342778","Ubiquinone dehydrogenase deficiency",1655,2,"0.8598979150097114"]
["C1852372","MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)",1655,2,"0.8806601599968179"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366"]
["C3554127","ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",1654,2,"0.5632680307570415"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759"]
["C0748140","Multiple pulmonary infections",1650,2,"0.9706120916814711"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891"]
["C0022638","Ketosis",1647,2,"0.9934333057638904"]
["C0235430","Ketonemia",1647,2,"0.9934126622468727"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674"]
["C0221005","Mauriac\\'s syndrome",1645,2,"0.8881871104799041"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086"]
["C3150754","GLYCOGEN STORAGE DISEASE XV",1643,2,"1.0"]
["C4015452","POLYGLUCOSAN BODY MYOPATHY 2",1643,2,"1.0"]
["C0008370","Cholestasis",1641,2,"0.5438031918208762"]
["C1112213","Cholestasis in newborn",1641,2,"0.4534190889884303"]
["C0035869","Rotavirus Infections",1637,2,"0.2095573791608353"]
["C0267446","Acute gastroenteritis",1637,2,"0.42568256794379544"]
["C0268152","Classical galactosemia, homozygous Duarte-type",1636,2,"1.0"]
["C3278146","GALACTOSEMIA, DUARTE VARIANT",1636,2,"1.0"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687"]
["C3150618","Maturity-onset diabetes of the young, type 11",1628,2,"0.32880966290534697"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0"]
["C3152083","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",1624,2,"1.0"]
["C1845408","Contiguous Abcd1-Dxs1375e Deletion Syndrome",1623,2,"0.8377425196350115"]
["C3806634","DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",1623,2,"0.8860174567657735"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774"]
["C0034069","Pulmonary Fibrosis",1621,2,"0.8183503591523228"]
["C0085786","Hamman-Rich syndrome",1621,2,"0.7686256632017731"]
["C0241984","Honeycomb lung",1620,2,"0.878243287721025"]
["C1800706","Idiopathic Pulmonary Fibrosis",1620,2,"0.8686501159010562"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463"]
["C3553637","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",1617,2,"0.4448050821973686"]
["C0272242","Complement deficiency disease",1616,2,"0.05908131845707539"]
["C1864694","Complement Component 7 Deficiency",1616,2,"0.3791243296303916"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456"]
["C3872560","Acute vascular graft rejection",1614,2,"0.9995880480031659"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541"]
["C3463897","HYDATIDIFORM MOLE, RECURRENT, 1",1613,2,"0.737995914660835"]
["C3502073","Woolly Hair, Autosomal Recessive",1611,2,"0.9824197758040908"]
["C4225214","WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",1611,2,"0.9839865392557181"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732"]
["C0001125","Acidosis, Lactic",1608,2,"0.164081161727295"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293"]
["C3553358","COENZYME Q10 DEFICIENCY, PRIMARY, 3",1602,2,"0.37791205537038886"]
["C3553374","COENZYME Q10 DEFICIENCY, PRIMARY, 5",1602,2,"0.3554669543959837"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592"]
["C1861106","Thyrotropin-Releasing Hormone Resistance, Generalized",1589,2,"1.0"]
["C4511136","Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency",1589,2,"1.0"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603"]
["C4082174","Thyrotropin deficiency, isolated",1588,2,"0.9986728115370451"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165"]
["C4280575","Progressive brain disease",1586,2,"0.09162557557979803"]
["C3151188","NEPHRONOPHTHISIS 9",1583,2,"1.0"]
["C3809434","RENAL-HEPATIC-PANCREATIC DYSPLASIA 2",1583,2,"1.0"]
["C3554235","JOUBERT SYNDROME 20",1580,2,"1.0"]
["C3809352","MECKEL SYNDROME, TYPE 11",1580,2,"1.0"]
["C3539071","NEPHRONOPHTHISIS 14",1579,2,"1.0"]
["C3553846","JOUBERT SYNDROME 19",1579,2,"1.0"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0"]
["C4225424","OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY",1573,2,"1.0"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0"]
["C4015555","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9",1572,2,"1.0"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0"]
["C1863557","Young Simpson syndrome",1571,2,"1.0"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317"]
["C0220687","KBG syndrome",1565,2,"1.0"]
["C4304594","16q24.3 microdeletion syndrome",1565,2,"1.0"]
["C0271907","Acquired aplastic anemia",1564,2,"0.2741952790412705"]
["C0744855","hepatitis immune",1564,2,"0.3134045287442611"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123"]
["C3809536","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS",1560,2,"0.4825095762737312"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0"]
["C4310742","COLD-INDUCED SWEATING SYNDROME 3",1553,2,"1.0"]
["C0242994","Hantavirus Infections",1550,2,"0.3457132766276379"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0"]
["C3280220","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",1548,2,"1.0"]
["C2675188","Kallmann Syndrome 6",1547,2,"1.0"]
["C3552574","HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA",1547,2,"1.0"]
["C1857720","KALLMANN SYNDROME 4 (disorder)",1546,2,"1.0"]
["C3552343","HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA",1546,2,"1.0"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0"]
["C3888124","CATARACT 17, MULTIPLE TYPES",1545,2,"1.0"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0"]
["C0023240","Legionellosis",1541,2,"1.0"]
["C3809001","CATARACT 15, MULTIPLE TYPES",1541,2,"1.0"]
["C0392557","Nuclear cataract",1539,2,"0.9728213294750262"]
["C1112705","Nuclear non-senile cataract",1539,2,"0.9730895139831194"]
["C1861828","Cataract, Zonular Pulverulent 1",1538,2,"0.9995307914643872"]
["C1866984","Sclerocornea, Autosomal Dominant",1538,2,"0.9995339311877735"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0"]
["C3151402","CANDIDIASIS, FAMILIAL, 5",1535,2,"1.0"]
["C4310803","IMMUNODEFICIENCY 51",1535,2,"1.0"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703"]
["C0007971","Cheilitis",1533,2,"0.39024983625431026"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117"]
["C2873787","Deficiency of factor X [Stuart-Prower]",1531,2,"0.9823409279708865"]
["C0026267","Mitral Valve Prolapse Syndrome",1530,2,"0.15666223115234226"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843"]
["C0024117","Chronic Obstructive Airway Disease",1529,2,"0.6912310300548151"]
["C1527303","Chronic Airflow Obstruction",1529,2,"0.7003753972171192"]
["C0151559","Central nervous system depression (disorder)",1527,2,"0.596908233595892"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763"]
["C0392702","Abnormal involuntary movement",1526,2,"1.0"]
["C1860861","TREMOR, HEREDITARY ESSENTIAL, 1",1526,2,"1.0"]
["C0018801","Heart failure",1523,2,"0.966996233275587"]
["C0018802","Congestive heart failure",1523,2,"0.9664922736405422"]
["C0272167","Reticular dysgenesis",1521,2,"1.0"]
["C1282908","De Vaal\\'s syndrome",1521,2,"1.0"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557"]
["C4310692","ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",1518,2,"0.9349076696179686"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563"]
["C2749929","Musician\\'s Dystonia",1515,2,"0.6946182617384036"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454"]
["C0877221","Decreased erythroid precursor production",1511,2,"1.0"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314"]
["C0149519","Chronic Persistent Hepatitis",1508,2,"0.8262575274558098"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856"]
["C0524611","Cryptogenic Chronic Hepatitis",1507,2,"0.6128263576684341"]
["C0235812","Vitritis",1506,2,"0.5514805143348978"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152"]
["C0003864","Arthritis",1503,2,"0.3662407056719722"]
["C0162323","Polyarthritis",1503,2,"0.2836236717604402"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638"]
["C0235840","Neonatal diarrhea",1500,2,"0.9999999999999984"]
["C0495452","Noninfective neonatal diarrhea",1500,2,"0.9999999999999984"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808"]
["C4275062","Intestinal epithelial dysplasia",1499,2,"0.9992593093388547"]
["C0006266","Bronchial Spasm",1498,2,"1.0"]
["C1837371","Sudden Infant Death with Dysgenesis of the Testes Syndrome",1498,2,"1.0"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584"]
["C3266102","Steroid resistant nephrotic syndrome of childhood",1495,2,"0.6802326706319196"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666"]
["C1271398","Pigment dispersion syndrome (disorder)",1492,2,"0.6484561206792332"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812"]
["C0008350","Cholelithiasis",1491,2,"0.49590903592182917"]
["C0947622","Cholecystolithiasis",1491,2,"0.405946169327562"]
["C0268532","Deficiency of prolidase",1486,2,"1.0"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0"]
["C0016977","Gall Bladder Diseases",1483,2,"0.33339552239079984"]
["C3275124","Biliary System Disorder",1483,2,"0.4843113020635257"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443"]
["C0494491","Mononeuropathies",1476,2,"0.8486055939681488"]
["C4225318","EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",1476,2,"0.8576804381377912"]
["C0398788","Immunodeficiency syndrome, variable",1474,2,"1.0"]
["C0494266","Other specified immunodeficiencies",1474,2,"1.0"]
["C0241423","Atrophy of tongue",1472,2,"0.06702470554463351"]
["C3472711","Spinocerebellar ataxia 36",1472,2,"0.33752033883368693"]
["C0221260","Dystrophia unguium",1471,2,"0.3446832338711288"]
["C1834405","Nail dysplasia",1471,2,"0.370343242850545"]
["C1853205","Glycosylphosphatidylinositol deficiency",1470,2,"0.44828598636543987"]
["C4014958","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5",1470,2,"0.38532317021966167"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897"]
["C0040558","Toxoplasmosis",1469,2,"0.5598850919242668"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591"]
["C0543669","Neutrophilia, Hereditary",1466,2,"1.0"]
["C4310764","NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",1466,2,"1.0"]
["C3280155","MECKEL SYNDROME, TYPE 9",1463,2,"1.0"]
["C4310706","JOUBERT SYNDROME 27",1463,2,"1.0"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0"]
["C0268425","Alstrom Syndrome",1462,2,"1.0"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0"]
["C4310694","MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",1461,2,"1.0"]
["C2986691","Inherited bone marrow failure syndrome",1458,2,"0.9380677966232861"]
["C4310744","BONE MARROW FAILURE SYNDROME 3",1458,2,"0.9364712329965857"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031"]
["C4012727","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",1455,2,"0.6612955252399989"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106"]
["C4014738","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2",1454,2,"0.6672655055693232"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0"]
["C1863224","Adenosine Triphosphate, Elevated, Of Erythrocytes",1449,2,"1.0"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135"]
["C4225347","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4",1444,2,"1.0"]
["C4225356","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",1444,2,"1.0"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0"]
["C3553758","JOUBERT SYNDROME 18",1443,2,"1.0"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0"]
["C3281235","BARAITSER-WINTER SYNDROME 2",1442,2,"1.0"]
["C1846331","Juvenile-onset dystonia",1441,2,"1.0"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0"]
["C0029429","Osteochondrosis",1440,2,"0.8069608419822124"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964"]
["C3809454","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",1437,2,"1.0"]
["C4225398","CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY",1437,2,"1.0"]
["C3280526","ARTHROGRYPOSIS, DISTAL, TYPE 1B",1436,2,"0.9249505911485285"]
["C3554046","LETHAL CONGENITAL CONTRACTURE SYNDROME 4",1436,2,"0.9314737620755409"]
["C0014335","Enteritis",1434,2,"0.9879426557371656"]
["C2677093","Inflammatory Bowel Disease 16",1434,2,"0.9879025609714773"]
["C0151718","Hypocholesterolemia",1433,2,"0.33012678812714935"]
["C1863551","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3",1433,2,"0.19665291281432154"]
["C1335029","Non-Neoplastic Peripheral Nervous System Disorder",1430,2,"0.5023225742943741"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443"]
["C1291312","Deficiency of oxidase",1429,2,"0.3943931652889704"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833"]
["C0268634","Disorder of fatty acid metabolism",1421,2,"0.4142135623730946"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736"]
["C0235831","Renal Cell Dysplasia",1419,2,"0.9997021305126301"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974"]
["C1827377","Slow acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8526657136218124"]
["C1827820","Fast acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8345100102085748"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0"]
["C0086457","Industrial Dermatosis",1416,2,"1.0"]
["C0026780","Mumps",1414,2,"1.0"]
["C1562585","Leprosy, Multibacillary",1414,2,"1.0"]
["C2674705","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",1413,2,"1.0"]
["C4310752","DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS",1413,2,"1.0"]
["C0271379","Convergence Insufficiency",1412,2,"1.0"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967"]
["C0429468","Anovulatory (finding)",1406,2,"0.47168332213328373"]
["C1960447","Hypergonadotropic amenorrhea",1406,2,"0.7173063832417884"]
["C0272175","Immune neutropenia",1404,2,"0.6026267298452191"]
["C0272176","Alloimmune neonatal neutropenia",1404,2,"0.15755240005121957"]
["C0033770","Prune Belly Syndrome",1402,2,"1.0"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262"]
["C3553060","EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",1400,2,"0.9200732965020476"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537"]
["C0031115","Peripheral angiopathy in diseases classified elsewhere",1394,2,"0.6809517019828334"]
["C0750151","Vaso-Occlusive Crisis",1394,2,"0.7025588374726794"]
["C3808899","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4",1393,2,"0.9435324364824292"]
["C4015062","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22",1393,2,"0.9438218026003791"]
["C2700431","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE",1392,2,"1.0"]
["C3276276","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",1392,2,"1.0"]
["C0162835","Hypopigmentation disorder",1390,2,"0.2647585969412623"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0"]
["C1837893","SCHIZOPHRENIA 12",1384,2,"1.0"]
["C0011876","Diabetic cataract",1383,2,"0.6845916832455673"]
["C1514284","Potassium Deficiency Disorder",1383,2,"0.6915367632325774"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654"]
["C0752100","Autosomal Recessive Parkinsonism",1379,2,"0.27047966988755523"]
["C0752105","Parkinsonism, Juvenile",1379,2,"0.42568383807760807"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0"]
["C3553656","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB",1373,2,"1.0"]
["C0003257","Antibody Deficiency Syndrome",1372,2,"0.590638217785264"]
["C0021051","Immunologic Deficiency Syndromes",1372,2,"0.6290146726113154"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838"]
["C1611706","Myosclerosis",1367,2,"1.0"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0"]
["C2937300","Congenital hereditary muscular dystrophy",1366,2,"1.0"]
["C4225336","DYSTONIA 27",1366,2,"1.0"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806"]
["C0006271","Bronchiolitis",1352,2,"0.3312540847342675"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398"]
["C0796081","Myhre syndrome",1346,2,"1.0"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516"]
["C0268414","Hyperphosphatasemia with bone disease",1342,2,"0.8634178441561433"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167"]
["C0040896","Trichinellosis",1338,2,"0.9676544328470965"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109"]
["C0042847","Vitamin B 12 Deficiency",1337,2,"0.400561110536149"]
["C3553915","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",1337,2,"0.5571722360340035"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289"]
["C4303860","Craniofacial ulnar renal syndrome",1333,2,"0.7276725189747749"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726"]
["C0036305","Schamberg Disease",1331,2,"1.0"]
["C0549567","Pigmentation Disorders",1331,2,"1.0"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974"]
["C0743359","Chronic ear infection",1330,2,"0.9999999999999974"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978"]
["C3809872","PERIVENTRICULAR NODULAR HETEROTOPIA 6",1325,2,"1.0"]
["C4304514","6q terminal deletion syndrome",1325,2,"1.0"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819"]
["C3280041","RETINITIS PIGMENTOSA 61",1318,2,"0.8064481575566744"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369"]
["C3806917","CRANIOSYNOSTOSIS 4",1314,2,"1.0"]
["C4310679","CHITAYAT SYNDROME",1314,2,"1.0"]
["C0085577","Normocytic anemia",1313,2,"0.43670068381445454"]
["C0235983","Normochromic anemia",1313,2,"0.43670068381445454"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657"]
["C4025020","Acute hepatic steatosis",1311,2,"0.6189166498244726"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0"]
["C4014557","MYOPATHY, TUBULAR AGGREGATE, 2",1308,2,"1.0"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0"]
["C0348460","Other hyperaldosteronism",1303,2,"0.18878692946233366"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137"]
["C0740898","Hypokalemic metabolic alkalosis",1302,2,"0.45535063513060364"]
["C1859844","LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)",1300,2,"1.0"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0"]
["C0152443","Urethral diverticulum",1297,2,"1.0"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592"]
["C3281289","TRICHOHEPATOENTERIC SYNDROME 2",1295,2,"0.5484954582860951"]
["C1859312","CAMFAK syndrome",1292,2,"1.0"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0"]
["C0020241","Hydroa Vacciniforme",1291,2,"0.9691996983110974"]
["C1833561","UV-Sensitive Syndrome",1291,2,"0.9663567408071206"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0"]
["C3810012","RIENHOFF SYNDROME",1286,2,"1.0"]
["C1842124","BRANCHIOOTIC SYNDROME 3 (disorder)",1285,2,"1.0"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0"]
["C1833691","Otofaciocervical Syndrome",1284,2,"0.9999999999999992"]
["C2931416","Fara Chlupackova syndrome",1284,2,"0.9999999999999992"]
["C1260894","Hypertrophic obesity",1282,2,"1.0"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831"]
["C0017155","Gastritis, Hypertrophic",1278,2,"0.6518707927038697"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947"]
["C0000809","Abortion, Habitual",1274,2,"0.45258826509498923"]
["C0004509","Azoospermia",1274,2,"0.17912247405891452"]
["C0025281","Meniere Disease",1272,2,"0.5143358249322583"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086"]
["C0235574","Intravascular hemolysis",1267,2,"0.9827146256296009"]
["C0312854","Extravascular Hemolysis",1267,2,"0.9830977683208306"]
["C0024473","Magnesium Deficiency",1264,2,"0.8519725714103367"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061"]
["C4225425","ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",1261,2,"0.6681844956895604"]
["C4274077","Autosomal recessive sideroblastic anemia",1261,2,"0.14426450077914602"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376"]
["C3150672","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",1255,2,"0.8228974361357007"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721"]
["C4020697","Giant cell hepatitis on liver biopsy",1254,2,"0.9674837487832815"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529"]
["C4304526","5q35 microduplication syndrome",1250,2,"0.8034306746759059"]
["C0432261","Osteopetrosis - intermediate type",1247,2,"0.7944092834839236"]
["C1969093","Osteopetrosis, Autosomal Recessive 6",1247,2,"0.85206035659522"]
["C1850126","Osteopetrosis, mild autosomal recessive form",1245,2,"0.8524958902742232"]
["C4025318","Chronic rhinitis due to narrow nasal airway",1245,2,"0.890626014422713"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0"]
["C3714760","Drug-induced tardive dyskinesia",1242,2,"1.0"]
["C0276501","Human immunodeficiency virus II infection",1241,2,"0.11505819125095162"]
["C1832097","EPIDERMAL DIFFERENTIATION COMPLEX",1241,2,"0.12157183903492909"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493"]
["C4225378","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY",1239,2,"1.0"]
["C4540355","JOUBERT SYNDROME 31",1239,2,"1.0"]
["C4225252","IMMUNODEFICIENCY 45",1237,2,"0.7883097787584327"]
["C4225260","IMMUNODEFICIENCY 44",1237,2,"0.7751681058336038"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0"]
["C3280845","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",1234,2,"1.0"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996"]
["C0687120","Nephronophthisis",1231,2,"0.3691188545802995"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486"]
["C3887499","Renal cyst",1229,2,"0.47156372814058795"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0"]
["C0265215","Meckel-Gruber syndrome",1225,2,"0.3836049514725714"]
["C1853235","Sclerocornea",1225,2,"0.5256736191656237"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648"]
["C3150874","CRANIOECTODERMAL DYSPLASIA 2",1219,2,"0.9603897250236316"]
["C3279792","SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY",1219,2,"0.9599874819609588"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0"]
["C4012268","TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",1216,2,"1.0"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901"]
["C0265354","CHARGE Syndrome",1214,2,"0.9191471251905701"]
["C2936502","Familial CHARGE Syndrome",1214,2,"0.9003052600390744"]
["C2675302","KALLMANN SYNDROME 5 (disorder)",1213,2,"1.0"]
["C3552553","HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA",1213,2,"1.0"]
["C1970440","CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)",1212,2,"1.0"]
["C4225231","TOOTH AGENESIS, SELECTIVE, 7",1212,2,"1.0"]
["C2910126","Patent or persistent ostium secundum defect (type II)",1209,2,"1.0"]
["C2910127","Patent or persistent sinus venosus defect",1209,2,"1.0"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266"]
["C3280679","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",1202,2,"1.0"]
["C3541476","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",1202,2,"1.0"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456"]
["C3489704","Vision Disability",1200,2,"0.897731631073227"]
["C1843315","Neuronopathy, Distal Hereditary Motor, Type Viib",1197,2,"0.9960557128089368"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0"]
["C1849695","Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency",1191,2,"1.0"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692"]
["C0266427","Testicular regression syndrome",1179,2,"1.0"]
["C4510744","46,XY partial gonadal dysgenesis",1179,2,"1.0"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0"]
["C3280797","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",1174,2,"1.0"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098"]
["C0268613","Disorder of sulfur-bearing amino acid metabolism",1164,2,"0.8385223249579978"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066"]
["C0521857","Increased drug resistance",1162,2,"1.0"]
["C4540293","IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",1162,2,"1.0"]
["C0007196","Restrictive cardiomyopathy",1159,2,"0.4540983319334666"]
["C0348616","Other restrictive cardiomyopathy",1159,2,"0.7425494796420091"]
["C0342543","Central Precocious Puberty",1158,2,"0.25321663309340026"]
["C0342544","Idiopathic central precocious puberty",1158,2,"0.5940290300661761"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278"]
["C0264413","Late onset asthma",1153,2,"0.8130589681681095"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728"]
["C4275024","Spinocerebellar ataxia type 8",1149,2,"0.6578129948411049"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265"]
["C0033817","Pseudomonas Infections",1136,2,"0.9736862246271955"]
["C0854135","Pseudomonas aeruginosa infection",1136,2,"0.970674399737973"]
["C0021847","Intestinal Pseudo-Obstruction",1124,2,"0.40317560541625125"]
["C0030446","Paralytic Ileus",1124,2,"0.5217970390924583"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0"]
["C3280342","STICKLER SYNDROME, TYPE V",1101,2,"1.0"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684"]
["C3711376","Isodicentric Chromosome 15 Syndrome",1097,2,"0.4164850544134028"]
["C4310712","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43",1097,2,"0.1761085741518913"]
["C3810313","DOWLING-DEGOS DISEASE 4",1096,2,"1.0"]
["C4310660","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",1096,2,"1.0"]
["C1865295","Auriculo-condylar syndrome",1095,2,"0.22596025311926737"]
["C3553404","AURICULOCONDYLAR SYNDROME 2",1095,2,"0.5800479358559968"]
["C2677338","Cardiomyopathy, Dilated, 1AA",1091,2,"1.0"]
["C4225403","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",1091,2,"1.0"]
["C0343055","Generalized pustular psoriasis",1089,2,"0.573505897743746"]
["C0392439","Acrodermatitis continua of Hallopeau",1089,2,"0.6034108222593161"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0"]
["C0008489","Chorea",1087,2,"0.5817541337085892"]
["C4020858","Choreatic disease",1087,2,"0.797168543895444"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281"]
["C1863062","Episodic quadriplegia",1079,2,"0.5435616645304149"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745"]
["C3809606","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",1072,2,"0.8631453698009163"]
["C4479569","NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS",1072,2,"0.8886491791176292"]
["C0020617","Hypoglycemic coma",1067,2,"0.2767185585329721"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217"]
["C3150617","Maturity-onset diabetes of the young, type 10",1065,2,"0.9507603149588209"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348"]
["C1865290","Hyperinsulinemic hypoglycemia, familial, 3",1063,2,"0.8545320016886053"]
["C1960469","Left ventricular noncompaction",1058,2,"0.5811015942894953"]
["C4021133","Left ventricular noncompaction cardiomyopathy",1058,2,"0.5235726950831312"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159"]
["C4304505","8p11.2 deletion syndrome",1051,2,"0.8662695367980746"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565"]
["C1138434","Genetic Diseases, X-Linked",1045,2,"0.9979955756181758"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258"]
["C0343386","Clostridium difficile infection",1044,2,"0.9744737905593374"]
["C1411966","Clostridium"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0"]
["C2955673","Urate nephropathy",1043,2,"1.0"]
["C0393706","Early infantile epileptic encephalopathy with suppression bursts",1042,2,"0.15288439742569668"]
["C2677326","Epileptic Encephalopathy, Early Infantile, 4",1042,2,"0.18722178804574632"]
["C0159020","Convulsions in the newborn",1034,2,"0.3782057960325707"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204"]
["C1857627","Chorioretinal dystrophy",1018,2,"0.2991993329525742"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102"]
["C4021592","Unilateral primary pulmonary dysgenesis",1017,2,"0.5543990106061871"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984"]
["C3806554","Dysseborrheic dermatitis",1015,2,"0.9999999999999984"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0"]
["C4015019","NEU-LAXOVA SYNDROME 2",1009,2,"1.0"]
["C1859709","Kuskokwim disease",1007,2,"1.0"]
["C3151218","OSTEOGENESIS IMPERFECTA, TYPE XI",1007,2,"1.0"]
["C0012754","Distemper",1005,2,"1.0"]
["C3150807","ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",1005,2,"1.0"]
["C0263449","Perioral Dermatitis",1004,2,"0.918465657485471"]
["C3714948","PACHYONYCHIA CONGENITA 3",1004,2,"0.9199167778120383"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0"]
["C0311338","Fundus Albipunctatus",1000,2,"0.9505547627879886"]
["C1405854","Retinitis punctata albescens (disorder)",1000,2,"0.9385325537583171"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0"]
["C3539888","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",997,2,"1.0"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774"]
["C4014414","MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",992,2,"0.7739230884715675"]
["C4310683","DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",992,2,"0.8463529097363073"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0"]
["C4225280","NOONAN SYNDROME 10",991,2,"1.0"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0"]
["C4014795","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",989,2,"1.0"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292"]
["C2750074","Rhabdoid Tumor Predisposition Syndrome 2",987,2,"0.7495043829608568"]
["C3553249","COFFIN-SIRIS SYNDROME 4",987,2,"0.47691184087043675"]
["C0022610","Kernicterus",980,2,"0.9641210995821964"]
["C0559506","Neonatal unconjugated hyperbilirubinemia",980,2,"0.9629535304817508"]
["C0268199","Familial apolipoprotein C-II deficiency",979,2,"0.8627265902538743"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627"]
["C0221252","Eruptive xanthoma",976,2,"0.427639577192762"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656"]
["C3151853","MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE",973,2,"0.9819746152502863"]
["C0017605","Angle Closure Glaucoma",970,2,"0.7049276108717428"]
["C0017606","Primary angle-closure glaucoma",970,2,"0.6557167140677719"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0"]
["C1837552","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",966,2,"1.0"]
["C3554428","OSTEOGENESIS IMPERFECTA, TYPE XIV",964,2,"0.654748724664011"]
["C3808844","OSTEOGENESIS IMPERFECTA, TYPE XV",964,2,"0.6333018672635082"]
["C1847640","KUFOR-RAKEB SYNDROME",962,2,"1.0"]
["C4310662","SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",962,2,"1.0"]
["C0863106","Afebrile seizure",957,2,"0.3731672679933728"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069"]
["C0339652","Vertical gaze palsy",955,2,"0.9999999999999996"]
["C1843369","Vertical supranuclear gaze palsy",955,2,"0.9999999999999996"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0"]
["C2231324","Brucellosis, Pulmonary",954,2,"1.0"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827"]
["C0156344","Endometriosis of ovary",946,2,"0.4491920550752994"]
["C3809250","ESTROGEN RESISTANCE",946,2,"0.6067590309594577"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078"]
["C3888081","L-2-hydroxyglutaric acidemia",943,2,"0.993142425952035"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193"]
["C2936859","N syndrome",939,2,"0.9958996947077335"]
["C0796275","Brunner Syndrome",935,2,"1.0"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489"]
["C2608083","Cholestasis, benign recurrent intrahepatic 2",932,2,"0.9994309680168438"]
["C3489789","Cholestasis, Progressive Familial Intrahepatic, 2",932,2,"0.9994311095138338"]
["C3549845","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",931,2,"1.0"]
["C4025019","Intrahepatic cholestasis with episodic jaundice",931,2,"1.0"]
["C0745744","End Stage Liver Disease",928,2,"0.9250287157626629"]
["C2936476","Chronic Liver Failure",928,2,"0.9279305560035096"]
["C3275685","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2",927,2,"1.0"]
["C3275686","CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY",927,2,"1.0"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188"]
["C0014458","Eosinophilia, Tropical",919,2,"0.6779891694267985"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872"]
["C3888212","SECKEL SYNDROME 4",911,2,"0.4686864890208793"]
["C3553582","SECKEL SYNDROME 6",910,2,"0.8360149084189106"]
["C3891452","SECKEL SYNDROME 8",910,2,"0.8086943833531022"]
["C0007930","Chagas Cardiomyopathy",909,2,"0.7229817457473199"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364"]
["C3277076","BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",901,2,"0.9772185373047375"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0"]
["C4225248","SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",898,2,"1.0"]
["C0796221","MENTAL RETARDATION, X-LINKED 15",890,2,"0.9946567719011925"]
["C3887959","MENTAL RETARDATION, X-LINKED 49",890,2,"0.9952526709315459"]
["C1835928","CARDIOMYOPATHY, DILATED, 1P",889,2,"0.9937171881860674"]
["C3151265","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",889,2,"0.9938162969982599"]
["C0920646","Ischemia of kidney",888,2,"0.23747759747484204"]
["C0920715","Myocardial hypoxia",888,2,"0.18202164255493047"]
["C0031030","Periapical Periodontitis",887,2,"0.40992645799122546"]
["C0524686","Periodontitis, Acute Nonsuppurative",887,2,"0.2635987595030968"]
["C3150344","HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",884,2,"0.5966922944141666"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127"]
["C3280976","Thrombophilia due to Thrombomodulin Defect",879,2,"0.6083443841351104"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0"]
["C3553944","USHER SYNDROME, TYPE IJ",877,2,"1.0"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0"]
["C1860157","Elejalde Disease",872,2,"1.0"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568"]
["C4049342","Foot osteomyelitis",870,2,"0.693176807610238"]
["C0405578","Gigantism and acromegaly",867,2,"1.0"]
["C4521132","ACROMEGALY DUE TO PITUITARY ADENOMA 1",867,2,"1.0"]
["C2676439","USHER SYNDROME, TYPE IIB, FORMERLY",866,2,"0.9999999999999983"]
["C3148929","USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",866,2,"0.9999999999999983"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106"]
["C0040127","Thyroid Crisis",856,2,"0.5493164845774884"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921"]
["C4023211","Adrenocorticotropin deficient adrenal insufficiency",854,2,"0.32252306691722366"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384"]
["C4014425","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",853,2,"1.0"]
["C4016748","CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC",853,2,"1.0"]
["C3539003","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",849,2,"0.7320508075688765"]
["C3809470","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",849,2,"0.8472422208337105"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0"]
["C2751309","Achromatopsia 5",847,2,"1.0"]
["C2680446","SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",846,2,"1.0"]
["C3280371","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4",846,2,"1.0"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0"]
["C3164344","Adult onset autosomal dominant leukodystrophy",840,2,"1.0"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0"]
["C1867326","RETINAL CONE DYSTROPHY 1",838,2,"1.0"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0"]
["C4014831","VESICOURETERAL REFLUX 8",837,2,"1.0"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0"]
["C3151293","CARDIOMYOPATHY, DILATED, 1HH",834,2,"1.0"]
["C0023308","Lens Diseases",831,2,"0.3716897644346344"]
["C1854065","LATE-ONSET RETINAL DEGENERATION (disorder)",831,2,"0.618030620635236"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743"]
["C0677659","Gastro-esophageal reflux disease with esophagitis",819,2,"0.5747628024909952"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0"]
["C0270853","Juvenile Myoclonic Epilepsy",805,2,"0.8183164185537508"]
["C0393676","Panayiotopoulos Syndrome",805,2,"0.773773876807001"]
["C3544092","Urgency frequency syndrome",804,2,"0.9983310779247285"]
["C4020898","Overactive bladder syndrome",804,2,"0.99833219605315"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0"]
["C0206526","Tuberculosis, Multidrug-Resistant",801,2,"0.5857143019959369"]
["C2959467","Tuberculous pleural effusion",801,2,"0.6220428423581812"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0"]
["C3151440","PITUITARY HORMONE DEFICIENCY, COMBINED, 6",797,2,"1.0"]
["C3150819","RETINITIS PIGMENTOSA 56",796,2,"0.839130207283061"]
["C4015343","MACULAR DYSTROPHY, VITELLIFORM, 5",796,2,"0.7058832043421653"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767"]
["C3151138","RETINITIS PIGMENTOSA 39 (disorder)",790,2,"0.9034325027409735"]
["C0393738","Chronic tension-type headache",787,2,"1.0"]
["C0522254","Analgesic Overuse Headache",787,2,"1.0"]
["C3554047","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",786,2,"1.0"]
["C4015671","LONG QT SYNDROME 14",786,2,"1.0"]
["C0030326","Panniculitis",781,2,"0.22850361610122386"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0"]
["C3810401","ATRIAL STANDSTILL 2",779,2,"1.0"]
["C0340489","Lone atrial fibrillation",775,2,"0.20797013810246612"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836"]
["C3887654","POLYARTERITIS NODOSA, CHILDHOOD-ONSET",758,2,"0.9992679579442352"]
["C0220754","Biotinidase Deficiency",750,2,"1.0"]
["C1854698","Multiple Carboxylase Deficiency, Juvenile-Onset",750,2,"1.0"]
["C0014852","Esophageal Diseases",748,2,"0.6611022496549224"]
["C0085648","Synovial Cyst",748,2,"0.5884721565011979"]
["C0010398","Cruveilhier-Baumgarten Syndrome",747,2,"0.25302478234126086"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471"]
["C4014700","ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",744,2,"0.9985938757440144"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956"]
["C0020473","Hyperlipidemia",741,2,"0.416870097433047"]
["C0020476","Hyperlipoproteinemias",741,2,"0.5276146831771171"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078"]
["C0205700","Asymmetric Septal Hypertrophy",732,2,"0.7739861564546344"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151"]
["C1858763","Cardiomyopathy, Dilated, 1g",729,2,"0.9999999999997151"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0"]
["C1839413","Pyruvate Dehydrogenase E1 Alpha Deficiency",721,2,"1.0"]
["C0410445","Osteomalacia secondary to drug",712,2,"0.4864035305026815"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0"]
["C3150652","FANCONI RENOTUBULAR SYNDROME 2",711,2,"1.0"]
["C4310232","Hypercalcemia, Infantile, 1",710,2,"0.7669843524860251"]
["C4310473","Hypercalcemia, infantile, 2",710,2,"0.20583087736403713"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734"]
["C0026141","Milk-Alkali Syndrome",709,2,"0.8043957909327021"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552"]
["C1863512","HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",704,2,"0.9884476400487494"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147"]
["C0006277","Bronchitis",700,2,"0.9938496747180657"]
["C0149514","Acute bronchitis",700,2,"0.9938503080083153"]
["C4014722","STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",699,2,"1.0"]
["C4040879","STING-associated vasculopathy with onset in infancy",699,2,"1.0"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292"]
["C3665704","Congenital reticular ichthyosiform erythroderma",698,2,"0.6975931161326213"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379"]
["C1862005","Epidermolytic Hyperkeratosis, Late-Onset",697,2,"0.8995467019257061"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711"]
["C0596992","myelinopathy",693,2,"0.7218266850127371"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178"]
["C3551756","NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT",692,2,"0.9615248209387778"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956"]
["C3553549","POROKERATOSIS 7, MULTIPLE TYPES",686,2,"0.5835054583215198"]
["C0011303","Demyelinating Diseases",685,2,"0.7752290377018304"]
["C2350037","Clinically Isolated Syndrome, CNS Demyelinating",685,2,"0.7423947339652351"]
["C0521736","Lower eyelid ectropion",676,2,"0.3445350331475028"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465"]
["C0038826","Superinfection",672,2,"0.4660447112480546"]
["C0375021","Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",672,2,"0.5591932666714367"]
["C0024266","Lymphocytic Choriomeningitis",671,2,"0.7779065358730058"]
["C0153014","Non-arthropod borne lymphocytic choriomeningitis",671,2,"0.8001508084484671"]
["C0038362","Stomatitis",664,2,"0.8475133864211715"]
["C1568868","Oral Mucositis",664,2,"0.8350957420433578"]
["C0271826","Iodide transport defect",663,2,"0.6882466465469741"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754"]
["C4020805","Athyroidal hypothyroidism",661,2,"0.5241414839373812"]
["C0268193","NADH cytochrome B5 reductase deficiency",659,2,"0.4036750004034327"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162"]
["C0272320","Hereditary factor VII deficiency disease",655,2,"0.9809362143502084"]
["C0034734","Raynaud Disease",654,2,"0.9999999999999978"]
["C0034735","Raynaud Phenomenon",654,2,"0.9999999999999978"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588"]
["C0008533","Hemophilia B",642,2,"0.966245300359561"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521"]
["C3810365","Central visual impairment",638,2,"0.9776886371551199"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0"]
["C2751288","Neutropenia, Severe Congenital, Autosomal Dominant 2",634,2,"1.0"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328"]
["C4310751","SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",632,2,"0.8423192739130502"]
["C0154841","Central retinal vein occlusion",630,2,"1.0"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433"]
["C0155119","Recurrent erosion of cornea",629,2,"0.2650551126554656"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193"]
["C0155241","Lacrimal mucocele",621,2,"0.7862345793723479"]
["C1867060","Lacrimal Puncta, Absence of",621,2,"0.6146774849779518"]
["C0015302","External exotoses",618,2,"0.6444798448047331"]
["C0432282","Dysplasia epiphysealis hemimelica",618,2,"0.7963893485560049"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291"]
["C0730290","Cone dystrophy",609,2,"0.8513923630406093"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072"]
["C2930971","Acroosteolysis dominant type",607,2,"0.9987308376921606"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009"]
["C0043345","Xeroderma",601,2,"0.1663235688718565"]
["C2930996","Muscular dystrophy, tardive Emery-Dreifuss type, with contractures",595,2,"1.0"]
["C4023180","Type 1 muscle fiber atrophy",595,2,"1.0"]
["C3890205","Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative",591,2,"0.999653788395011"]
["C3898105","Oligoarticular Juvenile Idiopathic Arthritis",591,2,"0.9996546390765393"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663"]
["C0265345","Lymphedema distichiasis syndrome",583,2,"1.0"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0"]
["C4225315","RETINITIS PIGMENTOSA 72",581,2,"1.0"]
["C4225316","EXUDATIVE VITREORETINOPATHY 6",581,2,"1.0"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0"]
["C3151060","Macular Degeneration, Age-Related, 6",580,2,"1.0"]
["C0271093","Stargardt\\'s disease",574,2,"0.974571387466299"]
["C1855465","STARGARDT DISEASE 1 (disorder)",574,2,"0.9748124424696775"]
["C4021559","Retinitis pigmentosa inversa",573,2,"0.7487472823872741"]
["C4282180","Juvenile macular degeneration",573,2,"0.4479718180457302"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204"]
["C4020734","Nystagmus, continuous pendular",570,2,"0.6720572290839278"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085"]
["C3887980","COLORBLINDNESS, PARTIAL, PROTAN SERIES",568,2,"0.5912784469348508"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461"]
["C0858618","Dyschromatopsia",567,2,"0.6626440512016597"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0"]
["C1856719","Kininogen Deficiency, Total",560,2,"1.0"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646"]
["C3151078","Complement Component C1s Deficiency",556,2,"1.0"]
["C4310681","EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",556,2,"1.0"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028"]
["C1960272","Latent autoimmune diabetes mellitus in adult",555,2,"0.5755643200635913"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0"]
["C4015214","CTLA4 Haploinsufficiency",554,2,"1.0"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0"]
["C3887639","Autoimmune gastritis",553,2,"1.0"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259"]
["C1843003","MITRAL VALVE PROLAPSE, MYXOMATOUS 2",550,2,"0.7745867661635375"]
["C3809875","VAN MALDERGEM SYNDROME 2",549,2,"1.0"]
["C4014939","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2",549,2,"1.0"]
["C3150898","CARDIOMYOPATHY, DILATED, 1GG",546,2,"1.0"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0"]
["C0270786","Binswanger Disease",545,2,"1.0"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297"]
["C4476521","Renal glomerular fibrosis",539,2,"0.5796800734151006"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438"]
["C0020550","Hyperthyroidism",533,2,"0.5310963689084658"]
["C3714618","Primary Hyperthyroidism",533,2,"0.49638561391152536"]
["C0022593","Keratosis",532,2,"0.9765912444509646"]
["C0022594","Keratosis Blennorrhagica",532,2,"0.9810459660205855"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0"]
["C3553330","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",519,2,"0.9233168059257613"]
["C4015095","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",519,2,"0.9339192086255407"]
["C3808964","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",517,2,"0.9577822444510047"]
["C4015184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",517,2,"0.9623600204742797"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292"]
["C3150414","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6",516,2,"0.7046555751397945"]
["C0033626","Protein Deficiency",510,2,"0.6459081826906153"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158"]
["C3553720","CFHR5 DEFICIENCY",508,2,"0.6198948742524636"]
["C4055342","C3 Glomerulonephritis",508,2,"0.24228411941257433"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656"]
["C3150215","CHROMOSOME 6q24-q25 DELETION SYNDROME",504,2,"1.0"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977"]
["C2609260","Caudal dysplasia syndrome",502,2,"0.4903697787021711"]
["C0236124","Gastrointestinal obstruction",501,2,"1.0"]
["C1867775","Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation",501,2,"1.0"]
["C2674127","LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)",497,2,"1.0"]
["C2931764","Furlong syndrome",497,2,"1.0"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0"]
["C3275356","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",492,2,"1.0"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158"]
["C3698541","Ohdo syndrome, Maat-Kievit-Brunner type",491,2,"0.9805706382908068"]
["C0271642","Fibrocalculous pancreatic diabetes",483,2,"0.8024504376285998"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229"]
["C0036130","Salpingitis",480,2,"1.0"]
["C0340238","Infectious disorder of bronchus",480,2,"1.0"]
["C3279947","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",478,2,"0.8876140883947304"]
["C3279974","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",478,2,"0.9213497530746388"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084"]
["C1842026","GLAUCOMA 1, OPEN ANGLE, E",472,2,"1.0"]
["C3150692","AMYOTROPHIC LATERAL SCLEROSIS 12",472,2,"1.0"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307"]
["C0423325","Ectropion uveae",468,2,"0.2931796476185303"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739"]
["C3854315","Pseudoprimary hyperaldosteronism",466,2,"0.6278966923236721"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731"]
["C0268360","Osteogenesis imperfecta, recessive perinatal lethal",462,2,"0.6800758704992528"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732"]
["C2930812","Generalized elastolysis",460,2,"0.6973716491077706"]
["C1394691","Bowel diverticula",456,2,"0.9999999999999993"]
["C1395674","Bowel diverticulosis",456,2,"0.9999999999999993"]
["C0003499","Supravalvular aortic stenosis",455,2,"0.6775986019638545"]
["C1305147","Congenital supravalvular aortic stenosis",455,2,"0.6875930283334726"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965"]
["C3276539","CUTIS LAXA, AUTOSOMAL DOMINANT 1",454,2,"0.38907494172645524"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243"]
["C1856441","Late onset congenital glaucoma",446,2,"1.0"]
["C4310623","ANTERIOR SEGMENT DYSGENESIS 6",446,2,"1.0"]
["C1533041","Primary congenital glaucoma",443,2,"0.8045052695033835"]
["C1832977","GLAUCOMA 3, PRIMARY INFANTILE, B",443,2,"0.8418411033992419"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268"]
["C1856184","HEMIHYPERPLASIA, ISOLATED",441,2,"0.08434478187202335"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208"]
["C0240066","Iron deficiency",431,2,"0.1532600255712564"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172"]
["C1276127","Sporadic porphyria cutanea tarda",430,2,"0.5563569852247574"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419"]
["C0017086","Gangrene",426,2,"0.5899649644787076"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649"]
["C3150958","Cardiomyopathy, Dilated, 1V",419,2,"0.8644843533259763"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219"]
["C1841659","Atrioventricular nodal disease",418,2,"0.44628644725636907"]
["C1969115","GALLBLADDER DISEASE 4",417,2,"0.5070206533678672"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653"]
["C1848486","Premature arteriosclerosis",415,2,"0.9999999999999967"]
["C4280503","Premature hardening of arteries",415,2,"0.9999999999999967"]
["C0342881","Familial hypercholesterolemia - homozygous",414,2,"0.9950686441998615"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369"]
["C3150972","NEUROPATHY, HEREDITARY SENSORY, TYPE ID",413,2,"0.586520528858976"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0"]
["C4225412","Spondylo-ocular syndrome",410,2,"1.0"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775"]
["C0854145","Feeding Disorders",408,2,"0.6376287887875876"]
["C0015930","Fetal Distress",407,2,"0.45256406260740734"]
["C0033575","Prostatic Diseases",407,2,"0.27536877547810695"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894"]
["C0002897","Anemia, Splenic",403,2,"0.5425821165873709"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253"]
["C0221262","Poliosis",402,2,"0.15104698983732226"]
["C0342680","Klein-Waardenberg\\'s syndrome",400,2,"1.0"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0"]
["C0079661","Klein\\'s Syndrome",399,2,"0.4695045680263902"]
["C1847800","Waardenburg Syndrome Type 1",399,2,"0.36030594134845584"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959"]
["C1863198","ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9720885679905467"]
["C0264955","Idiopathic arterial calcification of infancy",392,2,"0.8787091073698305"]
["C1859727","Arterial calcification of infancy",392,2,"0.7463705437855592"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011"]
["C4024631","Renal hypophosphatemia",390,2,"0.4754203404321968"]
["C0518988","Dental abscess",389,2,"1.0"]
["C1282952","Enthesitis",389,2,"1.0"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924"]
["C0340543","Familial primary pulmonary hypertension",384,2,"0.2731814749495957"]
["C1701939","Familial pulmonary arterial hypertension",384,2,"0.6003141436099456"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512"]
["C3887658","PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",381,2,"0.9080891088792171"]
["C0432240","Stuve-Wiedemann dysplasia",379,2,"1.0"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849"]
["C0699741","Benign congenital myopathy",373,2,"0.9972372709231963"]
["C3668940","Dmd-Associated Dilated Cardiomyopathy",373,2,"0.9972120608689411"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865"]
["C2827503","HFE-Associated Hereditary Hemochromatosis",370,2,"0.9134244775840457"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213"]
["C0271991","delta^0^ Thalassemia",369,2,"0.8883038961902984"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0"]
["C1849158","Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein",362,2,"1.0"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467"]
["C0342326","Tumor-induced hypoglycemia",359,2,"1.0"]
["C4225307","GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES",359,2,"1.0"]
["C0014742","Erythema Multiforme",358,2,"0.9947243149110956"]
["C3151085","MASP2 Deficiency",358,2,"0.9948802121872607"]
["C1847835","VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)",357,2,"0.9199535412388848"]
["C4479278","AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS",357,2,"0.9176241837195498"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581"]
["C4317320","Factor V deficiency",356,2,"0.4485430979187163"]
["C0393929","Familial infantile myasthenia",352,2,"1.0"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209"]
["C1833693","Otodental Dysplasia",341,2,"1.0"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0"]
["C1840347","HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)",340,2,"1.0"]
["C3809243","HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",340,2,"1.0"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824"]
["C0271844","Parathyroid hyperplasia",338,2,"0.5993809292643847"]
["C1840394","Parathyroid Adenomatosis, Familial Cystic",336,2,"1.0"]
["C1840403","Parathyroid Adenoma, Familial",336,2,"1.0"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0"]
["C4479229","HYPERPARATHYROIDISM 4",332,2,"1.0"]
["C3715128","HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",329,2,"0.9244236065313127"]
["C4048195","Autosomal dominant hypocalcemia",329,2,"0.9376584870455091"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896"]
["C0595948","Atypical absence seizure",328,2,"0.7938951754925483"]
["C2677078","Generalized Epilepsy With Febrile Seizures Plus, Type 6",321,2,"0.1388245210853384"]
["C2677079","Inflammatory Bowel Disease 19",321,2,"0.6789069553318091"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043"]
["C0391958","Familial Epilepsies",317,2,"1.0"]
["C1864987","Migraine, Familial Hemiplegic, 3",317,2,"1.0"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418"]
["C3150274","COMPLEMENT COMPONENT C1r/C1s DEFICIENCY",315,2,"0.8381970974099762"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0"]
["C0037769","West Syndrome",307,2,"0.470177921914013"]
["C3887898","Infantile Spasm",307,2,"0.5792649730881743"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068"]
["C0342546","Premature adrenarche",304,2,"1.0"]
["C4020713","Penile melanosis",304,2,"1.0"]
["C0003892","Neurogenic arthropathy",302,2,"0.4274246459299818"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163"]
["C3809882","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",298,2,"0.7749559668602081"]
["C3809899","EPISODIC PAIN SYNDROME, FAMILIAL, 3",298,2,"0.8911583170629884"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035"]
["C3151229","FEBRILE SEIZURES, FAMILIAL, 3B",296,2,"0.9715609139633676"]
["C0014805","Primary Erythermalgia",294,2,"1.0"]
["C1833661","PAROXYSMAL EXTREME PAIN DISORDER",294,2,"1.0"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996"]
["C0008733","Chylothorax",289,2,"0.7325683322546428"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318"]
["C2931803","Deletion 11p13",279,2,"0.9115534156796891"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0"]
["C3150773","CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME",273,2,"1.0"]
["C0751486","Reye-Like Syndrome",266,2,"1.0"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0"]
["C0036651","Senile lentigo",263,2,"0.9635667491119488"]
["C1328931","Multiple lentigines",263,2,"0.9568552516542852"]
["C1959635","Parvovirus B19 (disease)",258,2,"0.9999999999999987"]
["C2062441","Influenza A",258,2,"0.9999999999999987"]
["C0034089","Pulmonary Valve Stenosis",257,2,"0.6379953895721809"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583"]
["C2674723","RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER",254,2,"0.21217349147789383"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387"]
["C2931732","Familial Paget\\'s disease of bone",251,2,"0.9105113961730806"]
["C4085251","PAGET DISEASE OF BONE 2, EARLY-ONSET",251,2,"0.9453216217988855"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619"]
["C1867610","Macrocephaly mesodermal hamartoma spectrum",244,2,"1.0"]
["C3554519","COWDEN SYNDROME 6",244,2,"1.0"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0"]
["C4014479","CULLER-JONES SYNDROME",239,2,"1.0"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208"]
["C1112530","Leukoplakia of oral mucosa, incl tongue",235,2,"0.37552475762219273"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592"]
["C0264490","Acute respiratory failure",234,2,"0.26144710725229064"]
["C0376532","Epilepsy, Rolandic",231,2,"0.9863768331648847"]
["C2363129","Benign Rolandic Epilepsy",231,2,"0.9835612799265155"]
["C1264031","Alloimmune thrombocytopenia",229,2,"1.0"]
["C3280114","Glycoprotein IA Deficiency",229,2,"1.0"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713"]
["C3463916","Complement Factor I (C3 inactivator) deficiency",227,2,"0.9993580970880713"]
["C3809523","MACULAR DEGENERATION, AGE-RELATED, 13",227,2,"0.999362695947115"]
["C1449646","Primary Peritonitis",225,2,"1.0"]
["C1449647","Secondary Peritonitis",225,2,"1.0"]
["C1404521","Limb-girdle myopathy",224,2,"1.0"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568"]
["C0796206","Atkin syndrome",218,2,"1.0"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854"]
["C0042875","Vitamin E Deficiency",202,2,"0.7260317392737631"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042"]
["C0015544","Failure to Thrive",200,2,"0.8155779028014215"]
["C4539857","CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME",200,2,"0.8677287779857149"]
["C0746882","Chronic neutropenia",199,2,"0.4265838371316968"]
["C2931027","Neutropenia, severe chronic",199,2,"0.5920100690213788"]
["C0272199","Familial Hemophagocytic Lymphocytosis",197,2,"0.8777966363934008"]
["C0877564","Lymphohistiocytosis",197,2,"0.7536397048762788"]
["C0155686","Acute myocarditis",196,2,"0.999197085045493"]
["C1863727","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",196,2,"0.999197507327757"]
["C0393934","Slow channel syndrome",193,2,"1.0"]
["C0751950","Neuromuscular Junction Diseases",193,2,"1.0"]
["C0236811","Chronobiology Disorders",191,2,"0.9982707714617883"]
["C0813142","Circadian Rhythm Disorders",191,2,"0.9982724805137935"]
["C0036330","Schistosomiasis mansoni",179,2,"0.988763024335123"]
["C0242497","Intestinal schistosomiasis",179,2,"0.9886896464834624"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567"]
["C4023400","Generalized hypopigmentation of hair",170,2,"0.8741752036602615"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547"]
["C0024799","Marginal ulcer",167,2,"0.3288398176990978"]
["C0030920","Peptic Ulcer",167,2,"0.5447430931358818"]
["C0023364","Leptospirosis",165,2,"1.0"]
["C0043102","Weil Disease",165,2,"1.0"]
["C0014476","Eperythrozoonosis",162,2,"0.9763688333050579"]
["C0026936","Mycoplasma Infections",162,2,"0.9765910390406776"]
["C0009326","Collagen Diseases",161,2,"0.2197946581904022"]
["C0029883","Otitis Media with Effusion",161,2,"0.2197946581904022"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366"]
["C3854603","FNAITP",153,2,"0.9015382542785494"]
["C0343206","Hypocomplementemic urticarial vasculitis",150,2,"0.7251035333722083"]
["C4023113","Small vessel vasculitis",150,2,"0.4802384476127429"]
["C1384600","Systemic onset juvenile chronic arthritis",148,2,"0.37732833560863793"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482"]
["C0877445","Candidemia",147,2,"0.6222172173608798"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452"]
["C0006105","Brain Abscess",144,2,"0.993164548373027"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656"]
["C0238157","Benign hematuria",139,2,"1.0"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618"]
["C0264657","Renal sclerosis with hypertension",136,2,"0.36556103101872844"]
["C0238305","Sickle cell nephropathy",135,2,"1.0"]
["C2749515","Collapsing glomerulopathy",135,2,"1.0"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573"]
["C0271737","Addison\\'s disease due to autoimmunity",127,2,"0.7301362487287018"]
["C2103602","Autoimmune Primary Adrenal Insufficiency",127,2,"0.7475607575035587"]
["C0409952","Idiopathic osteoarthritis",125,2,"0.4268252862938259"]
["C1384584","Generalized osteoarthritis",125,2,"0.35786274943789437"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889"]
["C1456246","Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site",122,2,"0.4649887553430743"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831"]
["C1970470","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)",117,2,"1.0"]
["C3711368","Surfactant Dysfunction",117,2,"1.0"]
["C1833487","Varicella, Severe Recurrent",115,2,"1.0"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458"]
["C0038160","Staphylococcal Infections",109,2,"0.9748344539664633"]
["C1318973","Staphylococcus aureus infection",109,2,"0.9753952292699479"]
["C0014848","Esophageal Achalasia",107,2,"0.8953453362940573"]
["C0859976","Idiopathic achalasia of esophagus",107,2,"0.8959759896830298"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0"]
["C0017677","Glossitis, Benign Migratory",101,2,"1.0"]
["C0342879","Primary hypercholesterolemia",92,2,"0.5072362079212815"]
["C0342880","Polygenic hypercholesterolemia",92,2,"0.47131209749419495"]
["C0221014","Reactive systemic amyloidosis",88,2,"0.8757721251653822"]
["C3536715","AA amyloidosis",88,2,"0.8195465827971186"]
["C0342611","Familial non-neuropathic amyloidosis",87,2,"0.9999999999999984"]
["C1719313","Hereditary amyloid nephropathy",87,2,"0.9999999999999984"]
["C1318520","Necrotizing vasculitis",81,2,"0.3452722686939388"]
["C4050407","Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis",81,2,"0.5754267412787729"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672"]
["C0276447","Rhinovirus infection",75,2,"0.5989059067265652"]
["C0860564","Retinoic acid syndrome",75,2,"0.10735026511308464"]
["C0006274","Bronchiolitis, Viral",74,2,"1.0"]
["C0343378","Helicobacter-associated gastritis",74,2,"1.0"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431"]
["C0340076","Asthmatic pulmonary eosinophilia",67,2,"0.9875146502406423"]
["C0008513","Chorioretinitis",58,2,"1.0"]
["C0271429","Acute otitis media",58,2,"1.0"]
["C0740451","Granulomatous disorder",56,2,"0.7227409402498903"]
["C1334228","Intestinal Graft Versus Host Disease",56,2,"0.582080753975764"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303"]
["C1449626","CADASILM",42,2,"0.9999999999999983"]
["C4024918","Recurrent subcortical infarcts",42,2,"0.9999999999999983"]
["C0598428","genetic hypertension",39,2,"0.10835372021513352"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591"]
["C0268790","Renal vascular disorder",31,2,"0.9330123872994867"]
["C3810332","AURICULOCONDYLAR SYNDROME 3",31,2,"0.9296815872533594"]
["C0031039","Pericardial effusion",27,2,"0.6271121230469775"]
["C0242426","Chylopericardium",27,2,"0.5052535960135892"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984"]
["C0018814","Heart Rupture, Post-Infarction",24,2,"0.9859785298241688"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0"]
["C0852711","Sickle Cell Dactylitis",21,2,"1.0"]
["C0311370","Lupus anticoagulant disorder",17,2,"0.39169644528297426"]
["C2584409","Prothrombin G20210A mutation",17,2,"0.2175313471973938"]
["C0039103","Synovitis",13,2,"0.7609897081569665"]
["C0410574","Synovial Hypertrophy",13,2,"0.7390675909001504"]
["C2675767","EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",12,2,"1.0"]
["C3279941","STICKLER SYNDROME, TYPE IV",12,2,"1.0"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193"]
["C4021538","Mild neurosensory hearing impairment",10,2,"0.9210085775509319"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135"]
["C0687751","Acanthocytosis",1,2,"0.44297794826270537"]

{"sheet":"DO","index":1,"n_rows":7527,"n_cols":6,"rows_kept":7527,"cut":false,"hidden":false,"merged":[]}
["disease_id","disease_name","cluster","cluster_items","silhouette_sample","DO class name"]
["C0001231","ACTH Syndrome, Ectopic",155,29,"0.8917446133803774","disease of anatomical entity"]
["C0001614","Adrenal Cortex Diseases",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0001622","Adrenal Gland Hyperfunction",155,29,"0.6835686301495986","disease of anatomical entity"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","disease of anatomical entity"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","disease of anatomical entity"]
["C0020488","Hypernatremia",155,29,"0.5913723966697572"]
["C0154695","Diplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0154697","Cerebral Palsy, Quadriplegic, Infantile",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0154698","Monoplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0242217","Calcium Pyrophosphate Dihydrate Deposition",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0270742","Athetoid cerebral palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0270807","Monoplegic Cerebral Palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0271738","Hypocortisolism secondary to another disorder",155,29,"0.8930542471690757"]
["C0338596","Spastic cerebral palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0340375","Subaortic stenosis",155,29,"0.42098968313868534","disease of anatomical entity"]
["C0342442","ACTH-dependent Cushing\\'s syndrome",155,29,"0.8930542471690757"]
["C0342494","Adrenocortical hyperplasia",155,29,"0.49969250988094815"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757"]
["C0394003","Cerebral Palsy, Dystonic-Rigid",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0394007","Cerebral Palsy, Atonic",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0553767","Congenital Cerebral Palsy",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0574960","Sacroiliitis",155,29,"0.8776843642592694"]
["C0751024","Cerebral Palsy, Mixed",155,29,"0.8930542471690757","disease of anatomical entity"]
["C0751025","Cerebral Palsy, Rolandic Type",155,29,"0.8930542471690757","disease of anatomical entity"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757"]
["C2936444","Pyogenic Sacroiliitis",155,29,"0.8930542471690757"]
["C2936445","Septic Sacroiliitis",155,29,"0.8930542471690757"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458","disease of anatomical entity"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942"]
["C0158328","Trigger Finger Disorder",701,24,"0.923439776663983"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983"]
["C0259749","Autonomic neuropathy",701,24,"0.8613429782763394","disease of anatomical entity"]
["C0268380","Systemic amyloidosis",701,24,"0.6363915466641327"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983"]
["C0339562","Amyloid of vitreous",701,24,"0.923439776663983"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871"]
["C0342613","Danish type familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0342623","Senile systemic amyloidosis",701,24,"0.923439776663983"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983"]
["C1719315","Hereditary cardiac amyloidosis",701,24,"0.923439776663983"]
["C2718001","Protein Misfolding Disorders",701,24,"0.923439776663983"]
["C2750824","Dystransthyretinemic Euthyroidal Hyperthyroxinemia",701,24,"0.923439776663983"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642","disease of metabolism"]
["C3151470","AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983","disease of metabolism"]
["C3151471","AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983","disease of metabolism"]
["C3468338","CARPAL TUNNEL SYNDROME, FAMILIAL",701,24,"0.923439776663983"]
["C4275067","Transthyretin related familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695"]
["C0264913","Left posterior fascicular block",761,20,"0.6561976047947479"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731"]
["C0344431","Ventricular tachycardia, monomorphic",761,20,"0.6561976047947479"]
["C0685108","Lenegre\\'s disease",761,20,"0.6561976047947479"]
["C1141890","Congenital long QT syndrome",761,20,"-0.4814313865646901"]
["C1832680","CARDIOMYOPATHY, DILATED, 1E",761,20,"0.6561976047947479","disease of anatomical entity"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479","disease of anatomical entity"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268","disease of anatomical entity"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479","disease of anatomical entity"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479","disease of anatomical entity"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858","disease of anatomical entity"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611","disease of anatomical entity"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479"]
["C3151464","ATRIAL FIBRILLATION, FAMILIAL, 10",761,20,"0.6561976047947479","disease of anatomical entity"]
["C3276240","LONG QT SYNDROME 2/3, DIGENIC",761,20,"0.5148869923873103","disease of anatomical entity"]
["C3276241","LONG QT SYNDROME 3/6, DIGENIC Disorder",761,20,"0.42203767574616585","disease of anatomical entity"]
["C3698186","Cardiac channelopathy",761,20,"0.6561976047947479"]
["C4476543","Complete heart block with broad QRS complexes",761,20,"0.6561976047947479"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184","disease of anatomical entity"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306","disease of anatomical entity"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394","disease of anatomical entity"]
["C1854260","LEBER CONGENITAL AMAUROSIS 6 (disorder)",571,20,"0.9740371723062394","disease of anatomical entity"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394","disease of anatomical entity"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167","disease of metabolism"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","disease of metabolism"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","disease of anatomical entity"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255","disease of anatomical entity"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255","disease of mental health"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255","disease of anatomical entity"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255","disease of anatomical entity"]
["C0595905","cortex bone disorders",62,19,"0.947551417529255"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255","disease of anatomical entity"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255","disease of anatomical entity"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338","disease of anatomical entity"]
["C1862556","Apolipoprotein E, Deficiency or Defect of",62,19,"0.947551417529255"]
["C1862557","Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d",62,19,"0.947551417529255"]
["C1862558","Familial Hyperbeta- and Prebetalipoproteinemia",62,19,"0.947551417529255"]
["C1862560","Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis",62,19,"0.947551417529255"]
["C1862561","Broad-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1862562","Floating-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013","disease of anatomical entity"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693"]
["C4237227","Obstructive sleep apnea hypopnea",62,19,"0.947551417529255"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138","disease of mental health"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138","disease of mental health"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138","disease of mental health"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138","disease of mental health"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138","disease of mental health"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138","disease of mental health"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138","disease of mental health"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138","disease of mental health"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138","disease of mental health"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138","disease of mental health"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138","disease of mental health"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138","disease of mental health"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385","disease of mental health"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138","disease of mental health"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138","disease of mental health"]
["C3275443","MENTAL RETARDATION, X-LINKED 90 (disorder)",217,18,"0.6438841517661003","disease of mental health"]
["C3275444","MENTAL RETARDATION, X-LINKED 88 (disorder)",217,18,"0.9407568144808138","disease of mental health"]
["C3887939","MENTAL RETARDATION, X-LINKED 41",217,18,"0.600161968928229","disease of mental health"]
["C0001889","Akinetic Mutism",130,18,"0.880517536873952","disease of anatomical entity"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852","disease of anatomical entity"]
["C0022802","Kuru",130,18,"0.880517536873952","disease of anatomical entity"]
["C0162534","Prion Diseases",130,18,"0.5639481907382818","disease of anatomical entity"]
["C0206042","Fatal Familial Insomnia",130,18,"0.880517536873952","disease of anatomical entity"]
["C0751645","Human Transmissible Spongiform Encephalopathies, Inherited",130,18,"0.880517536873952","disease of anatomical entity"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952","disease of anatomical entity"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489","disease of anatomical entity"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952","disease of anatomical entity"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952","disease of anatomical entity"]
["C2349757","Iatrogenic Jakob-Creutzfeldt disease",130,18,"0.548250420431056"]
["C2900450","Other Creutzfeldt-Jakob disease",130,18,"0.7910919249868396"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952","disease of anatomical entity"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402"]
["C3805618","CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",130,18,"0.880517536873952","disease of anatomical entity"]
["C4275003","Familial Creutzfeldt-Jakob",130,18,"0.880517536873952"]
["C4303482","Familial Alzheimer-like prion disease",130,18,"0.880517536873952"]
["C0027145","Myxedema",562,17,"0.8680601743049992","disease of anatomical entity"]
["C0040149","Subacute thyroiditis",562,17,"0.8680601743049992","disease of anatomical entity"]
["C0040156","Thyrotoxicosis",562,17,"0.2650637609359388","disease of anatomical entity"]
["C0271790","Subclinical hypothyroidism",562,17,"0.8597538955951437"]
["C0271791","Severe hypothyroidism",562,17,"0.6205795358777723"]
["C0271814","Silent thyroiditis",562,17,"0.8680601743049992","disease of anatomical entity"]
["C0302840","Toxic thyroid adenoma",562,17,"0.8680601743049992"]
["C0342114","Diffuse goiter",562,17,"0.8680601743049992","disease of anatomical entity"]
["C0342122","Toxic diffuse goiter",562,17,"0.8680601743049992","disease of anatomical entity"]
["C0700502","Acquired hypothyroidism",562,17,"0.7958214371441152","disease of anatomical entity"]
["C0869147","Neonatal hyperthyroidism",562,17,"0.8680601743049992"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876","disease of anatomical entity"]
["C1262098","Congenital hyperthyroidism",562,17,"0.8680601743049992"]
["C1836706","Hyperthyroidism, Nonautoimmune",562,17,"0.8680601743049992","disease of anatomical entity"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992","disease of anatomical entity"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992","disease of anatomical entity"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329","disease of anatomical entity"]
["C0014547","Epilepsies, Partial",1039,16,"0.39604734328491253","disease of anatomical entity"]
["C0086240","Epilepsy, Simple Partial",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0234974","Simple Partial Seizures",1039,16,"0.7989936344921901","disease of anatomical entity"]
["C0270820","Gelastic Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0270847","Benign Focal Epilepsy, Childhood",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0393675","Childhood Benign Occipital Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0393679","Amygdalo-Hippocampal Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0393681","Rhinencephalic Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0393691","Occipital Lobe Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0751112","Subclinical Seizure",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0751113","Uncinate Seizures",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C0751115","Digestive Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C1851549","Benign Occipital Epilepsy",1039,16,"0.9183429424175625","disease of anatomical entity"]
["C3494976","Migrating partial seizures in infancy",1039,16,"0.7057371472318906"]
["C3554195","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14",1039,16,"0.7989936344921899","disease of anatomical entity"]
["C3554306","EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",1039,16,"0.8997102131297593","disease of anatomical entity"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015","disease of anatomical entity"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953","disease of anatomical entity"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856","disease of anatomical entity"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142","disease of anatomical entity"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889","disease of anatomical entity"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818","disease of anatomical entity"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201","disease of anatomical entity"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038","disease of anatomical entity"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658","disease of anatomical entity"]
["C0019021","Hemoglobin C Disease",363,15,"1.0","disease of anatomical entity"]
["C0221019","Sickle cell-beta-thalassemia",363,15,"1.0"]
["C0271986","delta beta^0^ Thalassemia",363,15,"1.0"]
["C0271987","^A^gamma delta beta^0^ thalassemia",363,15,"1.0"]
["C0272080","Hemoglobin D disease",363,15,"1.0","disease of anatomical entity"]
["C0272084","Hemoglobin SD disease",363,15,"1.0"]
["C0272085","Sickle cell-hemoglobin E disease",363,15,"1.0"]
["C0472769","Hemoglobin Lepore trait",363,15,"1.0"]
["C0472777","Hemoglobin E/beta thalassemia disease",363,15,"1.0"]
["C0599528","beta thalassemia major anemia",363,15,"1.0"]
["C0857812","Sickle cell-beta^+^-thalassemia",363,15,"1.0"]
["C0869532","Beta thalassemia minor",363,15,"1.0","genetic disease"]
["C1264000","Sickle cell-Hemoglobin O Arab disease",363,15,"1.0"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0","genetic disease"]
["C3161373","Dominant thalassemia",363,15,"1.0"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467","disease of anatomical entity"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191","disease of anatomical entity"]
["C0154971","Presenile cataract",281,15,"0.6721328702701199"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","disease of anatomical entity"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685"]
["C0521573","Coloboma of eyelid",281,15,"0.04564369362472322"]
["C0549307","Morning glory syndrome",281,15,"0.7499787358115191"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191","disease of anatomical entity"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191"]
["C1835698","Keratitis, hereditary",281,15,"0.7499787358115191"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191"]
["C3554721","Morning glory anomaly",281,15,"0.6160530614576153","disease of anatomical entity"]
["C3805604","FOVEAL HYPOPLASIA 1",281,15,"0.7499787358115191"]
["C4310809","ANTERIOR SEGMENT DYSGENESIS 5",281,15,"0.7499787358115191","disease of anatomical entity"]
["C0235820","Neonatal encephalopathy",1324,14,"0.9477127756007206"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529"]
["C0796222","Mental Retardation, X-Linked 16",1324,14,"0.9477127756007206"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206","disease of mental health"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206","disease of mental health"]
["C1848211","Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism",1324,14,"0.9477127756007206"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206","disease of mental health"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206","disease of mental health"]
["C1968552","Mental Retardation, X-Linked, With Spasticity",1324,14,"0.9477127756007206"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206","disease of mental health"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206","disease of mental health"]
["C0393593","Dystonia Disorders",951,14,"0.6982519975028805","disease of anatomical entity"]
["C0393598","Idiopathic familial dystonia",951,14,"0.7679777162686043","disease of anatomical entity"]
["C0743332","Focal Dystonia",951,14,"0.9201450282110738","disease of anatomical entity"]
["C0752197","Adult-Onset Dystonias",951,14,"0.9589805064494471","disease of anatomical entity"]
["C0752198","Adult-Onset Idiopathic Focal Dystonias",951,14,"0.9592504244316343","disease of anatomical entity"]
["C0752199","Adult-Onset Idiopathic Torsion Dystonias",951,14,"0.9592504244316343","disease of anatomical entity"]
["C0752200","Autosomal Dominant Familial Dystonia",951,14,"0.9592504244316343","disease of anatomical entity"]
["C0752201","Autosomal Recessive Familial Dystonia",951,14,"0.9592504244316343","disease of anatomical entity"]
["C0752202","Childhood Onset Dystonias",951,14,"0.9583412898482454","disease of anatomical entity"]
["C0752203","Dystonia, Primary",951,14,"0.9427935104653784","disease of anatomical entity"]
["C0752205","Dystonia, Secondary",951,14,"0.9594463549465768","disease of anatomical entity"]
["C0752206","Dystonias, Sporadic",951,14,"0.9591923466269677","disease of anatomical entity"]
["C0752207","Familial Dystonia",951,14,"0.9117739505549026","disease of anatomical entity"]
["C4316810","Writer\\'s Cramp",951,14,"0.9592504244316343","disease of anatomical entity"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437"]
["C0796083","Najjar syndrome",183,14,"0.9732481556666437"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336","disease of anatomical entity"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437","disease of anatomical entity"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437","genetic disease"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437","disease of anatomical entity"]
["C3266164","Dropped head syndrome",183,14,"0.9732481556666437"]
["C4021573","Patchy hypo- and hyperpigmentation",183,14,"0.9732481556666437"]
["C4021684","Sclerosis of hand bone",183,14,"0.9732481556666437"]
["C4275075","Atypical Werner syndrome",183,14,"0.9694821351266303"]
["C0033377","Ptosis",1196,13,"0.9182382953840843"]
["C0154208","Disorder of endocrine ovary",1196,13,"0.7066692397622093"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","genetic disease"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106","disease of anatomical entity"]
["C1862260","BPES, TYPE I",1196,13,"0.9829110049058106","genetic disease"]
["C1862261","BPES, TYPE II",1196,13,"0.9829110049058106","genetic disease"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106","genetic disease"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106","genetic disease"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106","genetic disease"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106","genetic disease"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","genetic disease"]
["C0008526","Choroiditis",507,13,"0.8004782025957944","disease of anatomical entity"]
["C0020875","Ileal Diseases",507,13,"0.7697948998824663"]
["C0022081","Iritis",507,13,"0.7697948998824663","disease of anatomical entity"]
["C0272192","Familial eosinophilia",507,13,"0.8004782025957944","disease of anatomical entity"]
["C0275551","Primary bacterial peritonitis",507,13,"0.49002046160008855"]
["C0341268","Disorder of small intestine",507,13,"0.8004782025957944"]
["C0376620","Pouchitis",507,13,"0.5543677376628083"]
["C1836122","SARCOIDOSIS, EARLY-ONSET",507,13,"0.8004782025957944"]
["C1853438","INFLAMMATORY BOWEL DISEASE 5",507,13,"0.44261517234695835","disease of anatomical entity"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218","genetic disease"]
["C2931133","Pediatric Crohn\\'s disease",507,13,"0.4326116375734043"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944"]
["C4310620","YAO SYNDROME",507,13,"0.8004782025957944"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895","disease of anatomical entity"]
["C0151814","Coronary Occlusion",22,13,"0.7102161850041155","disease of anatomical entity"]
["C0151970","Ulcer of esophagus",22,13,"0.8079605355986446"]
["C0154830","Proliferative diabetic retinopathy",22,13,"0.4046215313223032","disease of anatomical entity"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446","disease of anatomical entity"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684","disease of anatomical entity"]
["C0271084","Exudative age-related macular degeneration",22,13,"0.7292848099415582","disease of anatomical entity"]
["C0271178","Irvine-Gass Syndrome",22,13,"0.8079605355986446","disease of anatomical entity"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086"]
["C0730285","Diabetic macular edema",22,13,"0.5705128017554774","disease of anatomical entity"]
["C0741032","Refractory angina",22,13,"0.8079605355986446"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814"]
["C4068858","Avascular retina",22,13,"0.8079605355986446"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716","disease of anatomical entity"]
["C0521770","Asteroid hyalosis",6,13,"0.9640554617826333"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152","disease of anatomical entity"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333"]
["C1858079","Osteoarthritis with Mild Chondrodysplasia",6,13,"0.9640554617826333"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333"]
["C4225273","SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",6,13,"0.9640554617826333"]
["C4302548","Dysspondyloenchondromatosis",6,13,"0.9640554617826333"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956","disease of cellular proliferation"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956","disease of anatomical entity"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185","disease of anatomical entity"]
["C0221276","Relative erythrocytosis",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0272144","Erythrocytosis due to tissue hypoxemia",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0391869","Polycythemia due to excess erythopoetin production",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0541719","Stress polycythemia",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0865275","Polycythemia due to fall in plasma volume",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0865276","Polycythemia due to high altitude",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C1837915","ERYTHROCYTOSIS, FAMILIAL, 2",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C2674004","VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF",1349,12,"0.9526266257878601"]
["C2873823","Polycythemia due to erythropoietin",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C2873824","Polycythemia due to stress",1349,12,"0.9526266257878601","disease of anatomical entity"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447","disease of anatomical entity"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447","disease of metabolism"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447","disease of anatomical entity"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447","disease of metabolism"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447","disease of anatomical entity"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447","disease of metabolism"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179","disease of anatomical entity"]
["C3149517","LARYNGOSPASM, SEVERE NEONATAL EPISODIC",773,12,"0.9993405043486447"]
["C3280112","MYASTHENIC SYNDROME, CONGENITAL, 16",773,12,"0.9993405043486447","disease of anatomical entity"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447","disease of metabolism"]
["C4023179","Paradoxical myotonia",773,12,"0.9993405043486447"]
["C4275008","Acetazolamide responsive myotonia",773,12,"0.9993405043486447"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465","disease of anatomical entity"]
["C0085411","Angiodysplasia",142,12,"0.8847564051189242","disease of anatomical entity"]
["C0267370","Angiodysplasia of colon",142,12,"0.8847564051189242"]
["C0272355","von Willebrand disease, type IIC",142,12,"0.8847564051189242"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212","disease of anatomical entity"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242","disease of anatomical entity"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255","disease of anatomical entity"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592","disease of anatomical entity"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697","disease of anatomical entity"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242","disease of anatomical entity"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459","disease of anatomical entity"]
["C3641106","Congenital Bleeding Disorder",142,12,"0.6644661926356533"]
["C0035312","Retinal Drusen",94,12,"0.9997606633874201","disease of anatomical entity"]
["C0151565","Hemorrhagic colitis",94,12,"0.9997606633874201"]
["C0235618","Proliferative glomerulonephritis",94,12,"0.9997606633874201","disease of anatomical entity"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749","disease of anatomical entity"]
["C0730314","Chronic central serous chorioretinopathy",94,12,"0.9997606633874201"]
["C0853888","Hypocomplementaemia",94,12,"0.9997606633874201"]
["C1268937","Diarrhea-negative hemolytic uremic syndrome",94,12,"0.9997606633874201"]
["C1533060","Multifocal choroiditis",94,12,"0.9997606633874201"]
["C1720452","Soft drusen",94,12,"0.9997606633874201"]
["C1853147","MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)",94,12,"0.9997606633874201","disease of anatomical entity"]
["C1856143","HEMOLYTIC UREMIC SYNDROME, TYPICAL",94,12,"0.9997606633874201"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634","disease by infectious agent"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634","disease of anatomical entity"]
["C0032749","Post-kala-azar dermal leishmaniasis",61,12,"0.5850735930557925","disease by infectious agent"]
["C0043407","Yersinia infections",61,12,"0.9361544369942634"]
["C0085311","Diffuse cutaneous leishmaniasis",61,12,"0.9361544369942634"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667"]
["C0267541","Typhlocolitis",61,12,"0.9361544369942634"]
["C0948780","Rhinosinusitis",61,12,"0.9361544369942634"]
["C1719498","Generalized chronic periodontitis",61,12,"0.9361544369942634"]
["C1720795","Acute Bacterial Prostatitis",61,12,"0.9361544369942634","disease of anatomical entity"]
["C1720796","Asymptomatic Inflammatory Prostatitis",61,12,"0.9361544369942634","disease of anatomical entity"]
["C1720797","Chronic Bacterial Prostatitis",61,12,"0.9361544369942634","disease of anatomical entity"]
["C1723764","Chronic Prostatitis with Chronic Pelvic Pain Syndrome",61,12,"0.9361544369942634","disease of anatomical entity"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463","disease of anatomical entity"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809","disease of anatomical entity"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338","disease of anatomical entity"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109","disease of anatomical entity"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978","disease of anatomical entity"]
["C0270933","Inflammatory neuropathy",690,11,"0.3133082460602747"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082","disease of anatomical entity"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978","disease of anatomical entity"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978","disease of anatomical entity"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978","disease of anatomical entity"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744","disease of anatomical entity"]
["C4020904","Myelin tomacula",690,11,"0.9471990763674978"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978","disease of anatomical entity"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844","disease of metabolism"]
["C0268276","Juvenile GM 2 gangliosidosis",600,11,"0.9980248121615493"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493","disease of metabolism"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493","disease of anatomical entity"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493","disease of metabolism"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493","disease of metabolism"]
["C1848915","Gm2-Gangliosidosis, Adult Chronic Type",600,11,"0.9980248121615493"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493","disease of metabolism"]
["C1848917","Tay-Sachs Disease, Pseudo-AB Variant",600,11,"0.9980248121615493"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493","disease of metabolism"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493","disease of metabolism"]
["C2874270","GM2-GANGLIOSIDOSIS, ADULT",600,11,"0.9980248121615493"]
["C0162281","Corneal deposit",528,11,"0.9998287549904908","disease of anatomical entity"]
["C0271285","Epithelial basement membrane dystrophy",528,11,"0.9998287549904908"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908","disease of anatomical entity"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908","disease of anatomical entity"]
["C0544848","Dystrophy, granular",528,11,"0.9998287549904908"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426","disease of anatomical entity"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302","disease of anatomical entity"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908"]
["C2939149","Amyloid of cornea",528,11,"0.9998287549904908"]
["C0012736","Dissecting aortic aneurysm",450,11,"0.9962367115472965"]
["C0023316","Lens Subluxation",450,11,"0.9962367115472965","disease of anatomical entity"]
["C0410787","Hereditary Connective Tissue Disorder",450,11,"0.9962367115472965"]
["C0856747","Aneurysm of ascending aorta",450,11,"0.9962367115472965"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965"]
["C3280054","GELEOPHYSIC DYSPLASIA 2",450,11,"0.9962367115472965"]
["C3541518","ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",450,11,"0.9962367115472965"]
["C4021645","Recurrent abdominal hernia",450,11,"0.9962367115472965"]
["C4310796","MARFAN LIPODYSTROPHY SYNDROME",450,11,"0.9962367115472965"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993"]
["C0018204","Granulomatous prostatitis",103,11,"0.8735624215362114"]
["C0023351","Tuberculoid leprosy",103,11,"0.8735624215362114","disease by infectious agent"]
["C0041466","Typhoid Fever",103,11,"0.8794987616039337","disease by infectious agent"]
["C0151450","Secondary SjÃ¶gren\\'s syndrome",103,11,"0.8735624215362114"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114"]
["C0242993","Nephropathia Epidemica",103,11,"0.5736702590571869","disease by infectious agent"]
["C0393847","Multifocal motor neuropathy",103,11,"0.8735624215362114"]
["C0409651","Seropositive rheumatoid arthritis",103,11,"0.22365038115559094"]
["C0577620","Nut Hypersensitivity",103,11,"0.8735624215362114","disease of anatomical entity"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114"]
["C3899281","Early Inflammatory Arthritis",103,11,"0.8735624215362114"]
["C0021295","Infant, Premature, Diseases",37,11,"0.742036900172199"]
["C0028841","Ocular Hypotension",37,11,"0.742036900172199","disease of anatomical entity"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199","disease of anatomical entity"]
["C0152105","Hypertensive heart disease",37,11,"0.742036900172199","disease of anatomical entity"]
["C0740447","Diabetic peripheral neuropathy",37,11,"0.742036900172199"]
["C0741949","Cardiovascular Pathology",37,11,"0.6705414037844284"]
["C1096293","Macroangiopathy",37,11,"0.48674500112538505"]
["C1135196","Heart Failure, Diastolic",37,11,"-0.2529024267279328","disease of anatomical entity"]
["C1301700","Cardiovascular morbidity",37,11,"0.24729745995444893"]
["C1533172","Infantile nystagmus syndrome",37,11,"0.742036900172199"]
["C2349195","Acute Anterior Wall Myocardial Infarction",37,11,"0.742036900172199","disease of anatomical entity"]
["C0043124","West Nile Fever",1482,10,"0.8920888999971543","disease by infectious agent"]
["C0282312","Bubonic Plague",1482,10,"0.8940559888874083","disease by infectious agent"]
["C0404521","Infective vaginitis",1482,10,"0.8940559888874083","disease of anatomical entity"]
["C0497169","hiv-infection/aids",1482,10,"0.6285070490394137"]
["C0751583","Encephalitis, West Nile Fever",1482,10,"0.8915316185351188","disease by infectious agent"]
["C0751584","West Nile Fever Meningitis",1482,10,"0.8940559888874083","disease by infectious agent"]
["C0751585","West Nile Fever Meningoencephalitis",1482,10,"0.8940559888874083","disease by infectious agent"]
["C0751586","West Nile Fever Myelitis",1482,10,"0.8940559888874083","disease by infectious agent"]
["C0948192","Primary infection NOS",1482,10,"0.31706770862955735"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083","disease of metabolism"]
["C0037023","Sialadenitis",1391,10,"0.9926755805495429","disease of anatomical entity"]
["C0157843","Infective arthritis of shoulder region",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157844","Unspecified infective arthritis involving upper arm",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157845","Unspecified infective arthritis involving forearm",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157846","Unspecified infective arthritis involving hand",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157847","Unspecified infective arthritis, pelvic region and thigh",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157848","Unspecified infective arthritis involving lower leg",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0157849","Unspecified infective arthritis, ankle and foot",1391,10,"0.9991842395001611","disease of anatomical entity"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611"]
["C3151379","OKT4 EPITOPE DEFICIENCY",1391,10,"0.9991842395001611"]
["C0042842","Vitamin A Deficiency",1309,10,"-0.06260598941674932"]
["C0152455","Keratomalacia",1309,10,"0.7743075307898749","disease of anatomical entity"]
["C0271271","Xerotic keratitis",1309,10,"0.7743075307898749","disease of anatomical entity"]
["C0406481","Comedonal acne",1309,10,"0.7743075307898749"]
["C0856901","Retinol Deficiency",1309,10,"0.7743075307898749","disease of anatomical entity"]
["C3151228","RETINITIS PIGMENTOSA 38 (disorder)",1309,10,"-0.1846262653818366","disease of anatomical entity"]
["C3553016","Peripheral retinal atrophy",1309,10,"0.5935669506391431"]
["C3554593","RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",1309,10,"0.7743075307898749"]
["C4225330","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10",1309,10,"0.7743075307898749"]
["C4477027","Comedogenic acne",1309,10,"0.7743075307898749"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981","disease of anatomical entity"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","disease of mental health"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","disease of anatomical entity"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981","disease of metabolism"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981","disease of anatomical entity"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954"]
["C3150914","MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)",1143,10,"0.8880149060978981","disease of metabolism"]
["C3683791","Ataxia Neuropathy Spectrum",1143,10,"0.8880149060978981"]
["C4225153","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",1143,10,"0.8880149060978981"]
["C4225409","EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY",1143,10,"0.8880149060978981"]
["C4225440","EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",1143,10,"0.8880149060978981"]
["C0085541","Epilepsy, Frontal Lobe",1038,10,"0.7635039684443805","disease of anatomical entity"]
["C0393671","Frontal Epilepsy, Benign, Childhood",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C0393683","Epilepsy, Supplementary Motor",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C0393684","Epilepsy, Cingulate",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C0393688","Epilepsy, Opercular",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C0751642","Epilepsy, Anterior Fronto-Polar",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C0751643","Epilepsy, Orbito-Frontal",1038,10,"0.7113562741373897","disease of anatomical entity"]
["C1838049","Epilepsy, Nocturnal Frontal Lobe, Type 1",1038,10,"0.12028915682573223","disease of anatomical entity"]
["C1854335","Epilepsy, Nocturnal Frontal Lobe, Type 3",1038,10,"0.11825610529682665","disease of anatomical entity"]
["C3696898","Autosomal Dominant Nocturnal Frontal Lobe Epilepsy",1038,10,"0.3706891001071476"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0","disease of anatomical entity"]
["C0238115","Boerhaave syndrome",1011,10,"1.0"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0","disease of anatomical entity"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0"]
["C2675683","Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage",1011,10,"1.0"]
["C4302547","Dystrophic epidermolysis bullosa nails only",1011,10,"1.0"]
["C4511056","Centripetalis recessive dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C4518087","Acral dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C0016064","Fibrous Dysplasia, Monostotic",612,10,"0.8694170526648481"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","disease of metabolism"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","disease of anatomical entity"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904","disease of metabolism"]
["C0242292","McCune-Albright Syndrome",612,10,"0.858137083114479","genetic disease"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056","disease of metabolism"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481","disease of metabolism"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484","disease of metabolism"]
["C3697137","Fibrous dysplasia of bone with intramuscular myxoma",612,10,"0.8694170526648481"]
["C0026919","Mycobacterium Infections, Nontuberculous",523,10,"1.0"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0"]
["C0694566","Atypical Mycobacterial Infection, Disseminated",523,10,"1.0"]
["C1112429","Interferon gamma receptor deficiency",523,10,"1.0"]
["C1608955","Mycobacterium abscessus Infection",523,10,"1.0"]
["C2930924","Interferon gamma, receptor 1, deficiency",523,10,"1.0"]
["C3266863","Atypical Mycobacteriosis, Familial",523,10,"1.0"]
["C4011949","IMMUNODEFICIENCY 27A",523,10,"1.0"]
["C4014863","IMMUNODEFICIENCY 27B",523,10,"1.0"]
["C4288927","IFN-gamma Receptor 1 Deficiency",523,10,"1.0"]
["C0003907","Arthus Reaction",485,10,"0.6000971160313326","disease of anatomical entity"]
["C0014534","Epididymitis",485,10,"0.4276040266714033","disease of anatomical entity"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655","disease of anatomical entity"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927","disease of anatomical entity"]
["C0398764","Complement Factor D Deficiency",485,10,"-0.19548728776622476"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","disease of anatomical entity"]
["C0522274","Humoral immune defect",485,10,"0.7419300598689362","disease of anatomical entity"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362"]
["C3806660","Enteroviral dermatomyositis syndrome",485,10,"0.7419300598689362"]
["C4280547","Infected joint",485,10,"0.7419300598689362"]
["C1300256","Thanatophoric dysplasia, type 1",252,10,"0.9998494245230437"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784","disease of anatomical entity"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437"]
["C1834928","Cloverleaf skull micromelia thoracic dysplasia",252,10,"0.9998494245230437"]
["C1851152","SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS",252,10,"0.9998494245230437"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437","disease of anatomical entity"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199","disease of anatomical entity"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437"]
["C2931282","Skeletal dysplasia, San Diego type",252,10,"0.9998494245230437"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024","disease of anatomical entity"]
["C0021845","Intestinal Perforation",163,10,"0.03238384849988696","disease of anatomical entity"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907"]
["C0162869","Aneurysm, Ruptured",163,10,"0.7581173950476024"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883","disease of anatomical entity"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996","disease of anatomical entity"]
["C1257763","Overnutrition",163,10,"0.7525548746269481","disease of metabolism"]
["C1442839","Hypervitaminosis D",163,10,"0.73652669314996","disease of metabolism"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024"]
["C0011389","Dental Plaque",64,10,"1.0"]
["C0265101","Carotid artery occlusion",64,10,"1.0","disease of anatomical entity"]
["C0520574","Cerebrovascular amyloidosis",64,10,"1.0"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0","disease of metabolism"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0","disease of metabolism"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0","disease of metabolism"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0","disease of metabolism"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0","disease of metabolism"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0","disease of metabolism"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222","disease of metabolism"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435","disease of metabolism"]
["C1856302","GSD IV, Nonprogressive Hepatic",1943,9,"0.9999178147408435"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435","disease of metabolism"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435","disease of metabolism"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435","disease of metabolism"]
["C1856306","GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy",1943,9,"0.9999178147408435"]
["C2936914","Cirrhosis, familial, with deposition of abnormal glycogen",1943,9,"0.9999178147408435"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305","disease of anatomical entity"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133","disease of anatomical entity"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031","disease of anatomical entity"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738"]
["C1845117","Immunodeficiency without anhidrotic ectodermal dysplasia",1512,9,"0.9882351159840738"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177","genetic disease"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177","disease of anatomical entity"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","genetic disease"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","disease of anatomical entity"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738"]
["C2930820","Incontinentia pigmenti, familial male-lethal type",1512,9,"0.9882351159840738"]
["C4025314","Atrophic, patchy alopecia",1512,9,"0.9882351159840738"]
["C0007852","Cervical Migraine Syndrome",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0018984","Hemicrania migraine",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0042331","Migraine Variant",1398,9,"0.7160055476090497"]
["C0149931","Migraine Disorders",1398,9,"0.5559143549632166","disease of anatomical entity"]
["C0270858","Abdominal Migraine",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0338489","Status Migrainosus",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0521664","Acute Confusional Migraine",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0700438","Sick Headaches",1398,9,"0.7501617077033723","disease of anatomical entity"]
["C0744641","Intermittent migraine headaches",1398,9,"-0.32284017203017445"]
["C0865474","Parkinsonism or Parkinson\\'s disease NOS",1378,9,"1.0","disease of anatomical entity"]
["C0865475","Idiopathic Parkinsonism or Parkinson\\'s disease",1378,9,"1.0","disease of anatomical entity"]
["C0865476","Primary Parkinsonism or Parkinson\\'s disease",1378,9,"1.0","disease of anatomical entity"]
["C1399358","Hemiparkinsonism",1378,9,"1.0","disease of anatomical entity"]
["C1851957","Diffuse Lewy Body Disease with Gaze Palsy",1378,9,"1.0"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0","disease of mental health"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0","disease of anatomical entity"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0","disease of anatomical entity"]
["C1868595","PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)",1378,9,"1.0","disease of anatomical entity"]
["C1868596","Atypical Parkinson Disease",1378,9,"1.0","disease of anatomical entity"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224","syndrome"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064","disease of anatomical entity"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064","syndrome"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005","disease of anatomical entity"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064"]
["C3151468","PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1",1206,9,"0.9863358600890064"]
["C3275750","ATRIOVENTRICULAR SEPTAL DEFECT 3",1206,9,"0.9863358600890064","disease of anatomical entity"]
["C4479619","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3",1206,9,"0.9863358600890064"]
["C1306122","Oguchi disease",1122,9,"0.3824593538729675","disease of anatomical entity"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747","disease of anatomical entity"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372","disease of anatomical entity"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686","disease of anatomical entity"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303"]
["C3551052","Night blindness, stationary",1122,9,"0.7006168224170927"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019","disease of anatomical entity"]
["C0154674","Symptomatic torsion dystonia",1078,9,"0.9895425567163028","disease of anatomical entity"]
["C0154675","Fragments of torsion dystonia",1078,9,"0.9895425567163028","disease of anatomical entity"]
["C0393601","Idiopathic non-familial dystonia",1078,9,"0.9895425567163028","disease of anatomical entity"]
["C0477373","Other forms of migraine",1078,9,"0.9895425567163028","disease of anatomical entity"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895","disease of anatomical entity"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543","disease of anatomical entity"]
["C1832903","MIGRAINE, SPORADIC HEMIPLEGIC",1078,9,"0.9737107402936381","disease of anatomical entity"]
["C4310716","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42",1078,9,"0.9895425567163028"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493","disease of metabolism"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248","disease of metabolism"]
["C0546389","Hepatic periportal necrosis",1068,9,"0.9271356085439709"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971","disease of metabolism"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971","disease of metabolism"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644","disease of metabolism"]
["C3278154","GLUTARIC ACIDEMIA IIA",1068,9,"0.9134846171054567","disease of metabolism"]
["C3278155","GLUTARIC ACIDEMIA IIB",1068,9,"0.9105785627032866","disease of metabolism"]
["C3278156","GLUTARIC ACIDEMIA IIC",1068,9,"0.9154013645596661","disease of metabolism"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","disease of anatomical entity"]
["C1861453","Pseudohyperkalemia Cardiff",1053,9,"0.6837302474041852"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636"]
["C1862323","Southeast Asian ovalocytosis",1053,9,"0.9297508291212638"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636","disease of anatomical entity"]
["C4022665","Isothenuria",1053,9,"0.9317019562839636"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419","genetic disease"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419","disease of anatomical entity"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","genetic disease"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","disease of anatomical entity"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412","genetic disease"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772","genetic disease"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772","disease of anatomical entity"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194","disease of anatomical entity"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743","genetic disease"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743","disease of anatomical entity"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888","genetic disease"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888","disease of anatomical entity"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885","genetic disease"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885","disease of anatomical entity"]
["C4511230","Bathing suit ichthyosis",995,9,"0.4289803981348961"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761"]
["C0742468","Central nervous system lesion",740,9,"0.6383404306425577"]
["C0850741","Smoker\\'s lung",740,9,"0.4987757851787712"]
["C1167791","Skin toxicity",740,9,"0.5207036422508302"]
["C1512127","HER2 gene amplification",740,9,"0.21983729850888975"]
["C1559154","Rash and Dermatitis Adverse Event Associated with Chemoradiation",740,9,"0.055944302781270626"]
["C3266262","Multiple Chronic Conditions",740,9,"0.2803455268777472"]
["C3539781","Progressive cGVHD",740,9,"0.2558970703111747"]
["C4015130","INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",740,9,"0.6383404306425577"]
["C0270970","Reducing-body myopathy",734,9,"0.9800977569243934"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934","disease of anatomical entity"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669","disease of anatomical entity"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934","disease of anatomical entity"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949"]
["C4225159","REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",734,9,"0.9800977569243934","disease of anatomical entity"]
["C4225423","REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",734,9,"0.9800977569243934","disease of anatomical entity"]
["C0025239","Melorheostosis",679,9,"0.9590810313320987","disease of anatomical entity"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804","disease of anatomical entity"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128","disease of anatomical entity"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987"]
["C2931505","Mixed sclerosing bone dystrophy",679,9,"0.9590810313320987"]
["C3149399","DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",679,9,"0.9590810313320987"]
["C3149631","MELORHEOSTOSIS, ISOLATED",679,9,"0.9590810313320987","disease of anatomical entity"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987"]
["C4305140","12q14 microdeletion syndrome",679,9,"0.7153201322878779"]
["C0158447","Idiopathic osteoporosis",572,9,"0.6786925250174957","disease of anatomical entity"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957","genetic disease"]
["C0432273","Worth disease",572,9,"0.6786925250174957"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957","disease of anatomical entity"]
["C1843330","OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",572,9,"0.6786925250174957","disease of anatomical entity"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612","disease of anatomical entity"]
["C1866176","EXUDATIVE VITREORETINOPATHY 4 (disorder)",572,9,"0.6786925250174957","disease of anatomical entity"]
["C1866180","Horizontal pendular nystagmus",572,9,"0.4673117248178364"]
["C4021951","Vertebral body sclerosis",572,9,"0.6786925250174957"]
["C0266491","Neuronal heterotopia",538,9,"0.4903918513767565"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175","genetic disease"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175","disease of anatomical entity"]
["C1419610","RP23 gene",538,9,"0.5574660662561307","disease of anatomical entity"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497","syndrome"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497","genetic disease"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497","disease of anatomical entity"]
["C1846175","SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)",538,9,"0.5574660662561307","genetic disease"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307","genetic disease"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307"]
["C3554657","LISSENCEPHALY 5",538,9,"-0.021094451145836367","physical disorder"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665","physical disorder"]
["C1848214","Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia",489,9,"0.8633932514975425"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002","physical disorder"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425"]
["C2748919","Frontootopalatodigital Osteodysplasia",489,9,"0.8633932514975425"]
["C3806579","CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",489,9,"0.8633932514975425"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962","disease of anatomical entity"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975","disease of anatomical entity"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447","disease of anatomical entity"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962","disease of anatomical entity"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962","disease of anatomical entity"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962","disease of anatomical entity"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962","disease of anatomical entity"]
["C1835677","Keratoconus 1",469,9,"0.9149467475944513","disease of anatomical entity"]
["C3280099","CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME",469,9,"0.9420761249132962"]
["C0272005","Hemoglobin Bart\\'s hydrops syndrome",216,9,"0.9471710886523605","genetic disease"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177","genetic disease"]
["C1845298","MENTAL RETARDATION, X-LINKED 52",216,9,"0.1610886461493762"]
["C2873754","Severe alpha thalassemia",216,9,"0.9615459918125817","genetic disease"]
["C2873755","Triple gene defect alpha thalassemia",216,9,"0.9615459918125817","genetic disease"]
["C3161173","Hemoglobin H Constant Spring",216,9,"0.9615459918125817","genetic disease"]
["C3161175","Hydrops fetalis due to alpha thalassemia",216,9,"0.9615459918125817","genetic disease"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304","disease of anatomical entity"]
["C0015702","Favism",166,9,"0.9068857450061543","disease of metabolism"]
["C0015702","Favism",166,9,"0.9068857450061543","disease of anatomical entity"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543","disease of anatomical entity"]
["C0272132","Drug-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0472790","Chronic non-spherocytic hemolytic anemia",166,9,"0.9068857450061543"]
["C0520572","Enzymopathy",166,9,"0.9007307631074732"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663","disease of anatomical entity"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824","disease of metabolism"]
["C4021648","Fava bean-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0000880","Acanthamoeba Keratitis",93,9,"0.9238516356314508"]
["C0036685","Septicaemia due to gram-negative organism, unspecified",93,9,"0.533549232007681"]
["C0262380","Asymptomatic bacteriuria",93,9,"0.7177161229130913"]
["C0744471","Gram-negative bacteremia",93,9,"0.9238516356314508"]
["C1864267","Endotoxin Hyporesponsiveness",93,9,"0.9238516356314508"]
["C1969108","Macular Degeneration, Age-Related, 10",93,9,"0.9238516356314508"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C4049883","Obstructive Ureterocele",93,9,"0.9238516356314508"]
["C0024140","Lupus Erythematosus, Subacute Cutaneous",55,9,"0.7340179452623813"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421","disease of anatomical entity"]
["C0206178","Cytomegalovirus Retinitis",55,9,"0.9579441245933421","disease of anatomical entity"]
["C0276622","Acute viral hepatitis",55,9,"0.9579441245933421"]
["C0340354","Q fever endocarditis",55,9,"0.9579441245933421"]
["C0678201","Terminal Ileitis",55,9,"0.9579441245933421","disease of anatomical entity"]
["C2348101","Destructive Arthritis",55,9,"0.9579441245933421"]
["C3826604","Celiac disease in children",55,9,"0.9579441245933421"]
["C3890941","Acute Motor Axonal Neuropathy",55,9,"0.9579441245933421"]
["C0271355","Abducens Nerve Diseases",2,9,"1.0"]
["C1838492","SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)",2,9,"1.0"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0","disease of anatomical entity"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0","disease of anatomical entity"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0"]
["C4024611","Nonprogressive muscular atrophy",2,9,"1.0"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976","disease of metabolism"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742","disease of metabolism"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742","disease of metabolism"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742","disease of metabolism"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742","disease of metabolism"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742","disease of metabolism"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742","disease of metabolism"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742","disease of metabolism"]
["C0154778","Myopia, Degenerative",2035,8,"0.012251863619428949","disease of anatomical entity"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797","disease of anatomical entity"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555","disease of anatomical entity"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509","disease of anatomical entity"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509","disease of anatomical entity"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509","disease of anatomical entity"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509","disease of anatomical entity"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509","disease of anatomical entity"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354","disease of metabolism"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894","disease of metabolism"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894","disease of metabolism"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894","disease of metabolism"]
["C1968742","Glycogen Storage Disease IIID",1944,8,"0.9933621163568894"]
["C2936915","Amylo-1,6-glucosidase deficiency",1944,8,"0.9933621163568894"]
["C3695006","GLYCOGEN STORAGE DISEASE, TYPE IIIb",1944,8,"0.9933621163568894"]
["C3695007","GLYCOGEN STORAGE DISEASE, TYPE IIIa",1944,8,"0.9933621163568894"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797","disease of anatomical entity"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","disease of anatomical entity"]
["C0024591","Malignant hyperpyrexia due to anesthesia",1732,8,"0.8286985703814619","genetic disease"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219","disease of anatomical entity"]
["C1840365","King Denborough syndrome",1732,8,"0.9533484815040281"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977"]
["C1861751","Minicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861752","Multicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281","disease of anatomical entity"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281","disease of anatomical entity"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","disease of metabolism"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","disease of anatomical entity"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693","disease of metabolism"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693","disease of metabolism"]
["C1867717","SAPOSIN D (disease)",1697,8,"0.7169491968775693"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614"]
["C4023499","Generalized clonic seizures",1697,8,"0.6117026369525251"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779","disease of anatomical entity"]
["C0730309","Inherited optic neuropathy",1520,8,"0.8982322948388008"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008"]
["C3276549","OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",1520,8,"0.8969385499601228"]
["C4225163","MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)",1520,8,"0.8982322948388008"]
["C4275164","Autosomal dominant optic atrophy plus syndrome",1520,8,"0.8982322948388008"]
["C0751776","Atypical Inclusion-Body Disease",1484,8,"0.7621691076824937","disease of anatomical entity"]
["C0751777","Familial Progressive Myoclonic Epilepsy",1484,8,"0.7621691076824937","disease of anatomical entity"]
["C0751778","Myoclonic Epilepsies, Progressive",1484,8,"0.7065093991195834","disease of anatomical entity"]
["C0751779","Action Myoclonus-Renal Failure Syndrome",1484,8,"0.6416655202717283","disease of anatomical entity"]
["C0751780","Biotin-Responsive Encephalopathy",1484,8,"0.7621691076824937","disease of anatomical entity"]
["C0751781","Dentatorubral-Pallidoluysian Atrophy",1484,8,"0.7049757231816715","disease of anatomical entity"]
["C0751782","May-White Syndrome",1484,8,"0.7621691076824937","disease of anatomical entity"]
["C4021759","Generalized myoclonic seizures",1484,8,"-0.12495320563348299"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355","disease of anatomical entity"]
["C0265234","Branchio-Oto-Renal Syndrome",1283,8,"0.32868895541348697","genetic disease"]
["C0376524","Branchio-Oculo-Facial Syndrome",1283,8,"-0.21518455895815086","genetic disease"]
["C1865143","BRANCHIOOTIC SYNDROME 1",1283,8,"0.002523954174933355","syndrome"]
["C1970479","Branchiootorenal Syndrome 2",1283,8,"0.370317925827299","genetic disease"]
["C3551443","ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT",1283,8,"0.12954276709962123","syndrome"]
["C3714941","OTOFACIOCERVICAL SYNDROME 1",1283,8,"-0.35773093630492153"]
["C4023411","Hemifacial hypoplasia",1283,8,"0.13737215279501558"]
["C1832230","Peroxisome Biogenesis Disorder, Complementation Group 4",1186,8,"0.7408748471446291"]
["C1832231","Peroxisome Biogenesis Disorder, Complementation Group 6",1186,8,"0.7408748471446291"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209"]
["C3553538","BROWN-VIALETTO-VAN LAERE SYNDROME 2",1186,8,"-0.08228834986526815"]
["C3553936","PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)",1186,8,"0.7408748471446291"]
["C3553937","PEROXISOME BIOGENESIS DISORDER 4B",1186,8,"0.7408748471446291"]
["C4225267","HEIMLER SYNDROME 2",1186,8,"0.7408748471446291"]
["C1415817","HETEROTAXY, VISCERAL, 2, AUTOSOMAL",1133,8,"0.35958686099358655","physical disorder"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846","physical disorder"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606","physical disorder"]
["C2931228","VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",1133,8,"0.1539267239679174"]
["C3151057","HETEROTAXY, VISCERAL, 4, AUTOSOMAL",1133,8,"0.224354478906329","physical disorder"]
["C3151867","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",1133,8,"0.6195813479742105","physical disorder"]
["C3553676","HETEROTAXY, VISCERAL, 6, AUTOSOMAL",1133,8,"0.47651770898072154","physical disorder"]
["C4274029","Biliary atresia with splenic malformation syndrome",1133,8,"-0.4702507365651105"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","disease of metabolism"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","disease of anatomical entity"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679","disease of metabolism"]
["C3151295","HYPOMAGNESEMIA 6, RENAL",1012,8,"0.7250818753428685","disease of metabolism"]
["C4225333","HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION",1012,8,"0.7250818753428685"]
["C4510731","Familial primary hypomagnesemia with normocalciuria and normocalcemia",1012,8,"0.6372231128137914"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728","disease of anatomical entity"]
["C0014800","Erythroid hyperplasia",880,8,"0.03757468942048783"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513","disease of anatomical entity"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182","disease of anatomical entity"]
["C0678199","Anemia of inadequate production",880,8,"-0.1460776513473016"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393","disease of anatomical entity"]
["C4025183","Macrocytic dyserythropoietic anemia",880,8,"0.34625443344394524"]
["C4225179","COWDEN SYNDROME 7",880,8,"0.05101840833974681"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121","disease of metabolism"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121","genetic disease"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121","disease of anatomical entity"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189","disease of anatomical entity"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643","disease of anatomical entity"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189","disease of anatomical entity"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189","disease of anatomical entity"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156","disease of metabolism"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156","disease of anatomical entity"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189","disease of anatomical entity"]
["C4024710","Cerebellar cortical atrophy",871,8,"-0.02246949520390459"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156","disease of anatomical entity"]
["C1860406","VITREORETINOCHOROIDOPATHY (disorder)",794,8,"0.99720921350546"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546","disease of anatomical entity"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546","disease of anatomical entity"]
["C3888099","Autosomal dominant vitreoretinochoroidopathy",794,8,"0.99720921350546"]
["C3888198","BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",794,8,"0.99720921350546","disease of anatomical entity"]
["C1320640","Peripheral degeneration of retina",789,8,"0.7738615683297322","disease of anatomical entity"]
["C1837029","Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",789,8,"0.2913636212590398","disease of anatomical entity"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891","disease of anatomical entity"]
["C1868569","Patterned dystrophy of retinal pigment epithelium",789,8,"0.6979186189155734","disease of anatomical entity"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322","disease of anatomical entity"]
["C2751290","CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",789,8,"0.7738615683297322","disease of anatomical entity"]
["C4024776","Reticular retinal dystrophy",789,8,"0.7738615683297322"]
["C4509881","Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus",789,8,"0.7738615683297322"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758","disease of metabolism"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","disease of metabolism"]
["C0034040","Puerperal Disorders",755,8,"0.6139125893059771"]
["C0751230","Hypothalamic Dysfunction Syndromes",755,8,"0.6139125893059771","disease of anatomical entity"]
["C1449720","Adolescent Gynecomastia",755,8,"0.6139125893059771","disease of anatomical entity"]
["C1449721","Infant Gynecomastia",755,8,"0.6139125893059771","disease of anatomical entity"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","disease of metabolism"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418","disease of metabolism"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677","disease of metabolism"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677","disease of metabolism"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677","disease of metabolism"]
["C1968746","Gangliosidosis, Generalized GM1, Late-Infantile Type",599,8,"0.9824472859306677"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677","disease of metabolism"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677","disease of metabolism"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978","genetic disease"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062","genetic disease"]
["C0271690","Type 2 diabetes mellitus with acanthosis nigricans",477,8,"0.9994747439888062"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062","genetic disease"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062"]
["C0342336","Insulin resistance - type A",477,8,"0.9994747439888062"]
["C1864952","Hyperinsulinemic Hypoglycemia, Familial, 5",477,8,"0.9994747439888062","disease of metabolism"]
["C1960636","Dysglycemia",477,8,"0.9994747439888062"]
["C0017412","Genital Diseases, Male",439,8,"0.9202045795626449","disease of anatomical entity"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","disease of anatomical entity"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603","disease of anatomical entity"]
["C0860159","Partial androgen resistance",439,8,"0.9202045795626449"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933","disease of anatomical entity"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449","disease of anatomical entity"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449","disease of anatomical entity"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","disease of anatomical entity"]
["C0013390","Dysmenorrhea",409,8,"0.08185048481770882"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573","disease of anatomical entity"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124","disease of anatomical entity"]
["C0342394","Familial central diabetes insipidus",409,8,"0.7895683213028573"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","disease of anatomical entity"]
["C0857122","Hyponatraemic",409,8,"0.7895683213028573"]
["C1136135","Water Stress",409,8,"0.7895683213028573"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227","disease of anatomical entity"]
["C0340542","Sporadic primary pulmonary hypertension",378,8,"0.9125811377145642"]
["C0340544","Pulmonary arterial hypertension induced by drug",378,8,"0.9125811377145642"]
["C2939447","Right ventricular failure",378,8,"0.9125811377145642","disease of anatomical entity"]
["C3697119","Pulmonary arterial hypertension associated with congenital heart disease",378,8,"0.9125811377145642"]
["C4020753","Intimal fibrosis",378,8,"0.9125811377145642"]
["C4023403","Arterial intimal fibrosis",378,8,"0.9125811377145642"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642"]
["C0016436","Folliculitis",376,8,"0.5053871022777267","disease of anatomical entity"]
["C1275091","Ichthyosis follicularis with alopecia and photophobia (IFAP)",376,8,"0.8949262044208534"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534"]
["C2936846","Scarring alopecia",376,8,"0.8949262044208534"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534"]
["C3806745","PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED",376,8,"0.8949262044208534"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121","disease of anatomical entity"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822","disease of anatomical entity"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255","disease of anatomical entity"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661","disease of anatomical entity"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934","disease of anatomical entity"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019","disease of anatomical entity"]
["C2673610","JEB-I",354,8,"0.843119422344277","disease of anatomical entity"]
["C4021730","Junctional split",354,8,"0.5710134342670009"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521","disease of metabolism"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521","disease of anatomical entity"]
["C0342342","Idiopathic Hypoparathyroidism",330,8,"0.8829785322146788","disease of anatomical entity"]
["C0342637","Hypocalciuric hypercalcemia, familial, type 1",330,8,"0.8194862211047983","disease of metabolism"]
["C0345406","Neonatal hyperparathyroidism",330,8,"0.875290707550721"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486","disease of metabolism"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486","disease of anatomical entity"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261"]
["C1840348","Hypocalciuric Hypercalcemia, Acquired",330,8,"0.875290707550721","disease of metabolism"]
["C0014550","Myoclonic Epilepsy",323,8,"0.929047905660524","disease of anatomical entity"]
["C0338478","Idiopathic Myoclonic Epilepsy",323,8,"0.948420157376199","disease of anatomical entity"]
["C0338479","Symptomatic Myoclonic Epilepsy",323,8,"0.948420157376199","disease of anatomical entity"]
["C0393695","Early Childhood Epilepsy, Myoclonic",323,8,"0.948420157376199","disease of anatomical entity"]
["C0393702","Myoclonic Astatic Epilepsy",323,8,"0.7046903013229593","disease of anatomical entity"]
["C0393703","Myoclonic Absence Epilepsy",323,8,"0.948420157376199","disease of anatomical entity"]
["C0438414","Myoclonic Encephalopathy",323,8,"0.948420157376199","disease of anatomical entity"]
["C0751120","Benign Infantile Myoclonic Epilepsy",323,8,"0.948420157376199","disease of anatomical entity"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052"]
["C1846388","CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",290,8,"0.996806704898052"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521"]
["C4478700","FOCAL CORTICAL DYSPLASIA, TYPE IIA",290,8,"0.996806704898052"]
["C4478701","FOCAL CORTICAL DYSPLASIA, TYPE IIB",290,8,"0.996806704898052"]
["C4479708","FCD IIA",290,8,"0.996806704898052"]
["C4479709","FCD IIB",290,8,"0.996806704898052"]
["C0032326","Pneumothorax",280,8,"0.8223784713035205"]
["C0149781","Spontaneous pneumothorax",280,8,"0.9541762804677217","disease of anatomical entity"]
["C0264558","Tension Pneumothorax",280,8,"0.9728018405562604","disease of anatomical entity"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654","genetic disease"]
["C0546483","Lung cyst",280,8,"0.9728018405562604"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604"]
["C1868193","PNEUMOTHORAX, PRIMARY SPONTANEOUS",280,8,"0.9720243119326936"]
["C4275252","Familial spontaneous pneumothorax",280,8,"0.9728018405562604"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759","disease of anatomical entity"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744","disease of cellular proliferation"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744","disease of anatomical entity"]
["C0043037","Common wart",233,8,"0.9921988893938744","disease by infectious agent"]
["C0085694","Chronic cholecystitis",233,8,"0.9921988893938744"]
["C0747742","polyp benign",233,8,"0.9921988893938744"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744","genetic disease"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613","genetic disease"]
["C4049993","Aristolochic Acid Nephropathy",233,8,"0.9921988893938744"]
["C0153252","Systemic candidiasis",192,8,"0.505143674358917"]
["C0269084","Vulvar Vestibulitis",192,8,"0.8612264497413841"]
["C0746883","Febrile Neutropenia",192,8,"0.35346716001502215"]
["C1320214","Invasive Streptococcus pneumoniae disease",192,8,"0.6468126028250947"]
["C1609535","Invasive Candidiasis",192,8,"0.8612264497413841"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315"]
["C3825879","Otitis media in children",192,8,"0.8612264497413841"]
["C3826128","Infection in children",192,8,"0.8612264497413841"]
["C0003081","Anisometropia",173,8,"0.8200369611986975","disease of anatomical entity"]
["C0030517","Parathyroid Diseases",173,8,"0.7276449660258347","disease of anatomical entity"]
["C0040046","Thrombophlebitis",173,8,"0.0255402408450929","disease of anatomical entity"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176","genetic disease"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975","genetic disease"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975","genetic disease"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","genetic disease"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828","physical disorder"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828","genetic disease"]
["C0030343","Panuveitis",69,8,"0.9384923708493668","disease of anatomical entity"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668"]
["C0729552","Genital infection",69,8,"0.9384923708493668"]
["C1328252","Mucocutaneous leishmaniasis",69,8,"0.9328875046648023","disease by infectious agent"]
["C1609538","Latent Tuberculosis",69,8,"0.55470998528803"]
["C2350875","Constrictive Bronchiolitis",69,8,"0.8134100440183278","disease of anatomical entity"]
["C2350876","Bronchiolitis, Exudative",69,8,"0.9384923708493668","disease of anatomical entity"]
["C2350988","Bronchiolitis, Proliferative",69,8,"0.9384923708493668","disease of anatomical entity"]
["C0206064","Microvascular Angina",20,8,"0.9317240164920229"]
["C0242129","Thrombotic stroke",20,8,"0.9591944520707146"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519","disease of anatomical entity"]
["C1856058","HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",20,8,"0.9591944520707146","disease of metabolism"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146","disease of metabolism"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966","disease of anatomical entity"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728","disease of anatomical entity"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286","disease of anatomical entity"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496","disease of metabolism"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496","disease of anatomical entity"]
["C0742191","Cervical spinal cord atrophy",1906,7,"0.7729275698293496"]
["C1847416","FRIEDREICH ATAXIA WITH RETAINED REFLEXES",1906,7,"0.7729275698293496"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402","disease of anatomical entity"]
["C3273225","Hereditary Neurodegenerative Disorder",1906,7,"0.595812236416077"]
["C4479491","LOPES-MACIEL-RODAN SYNDROME",1906,7,"-0.2961412440383463"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","disease of anatomical entity"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827","disease of anatomical entity"]
["C0348447","Other specified diabetes mellitus",1721,7,"1.0"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","genetic disease"]
["C0473524","Postpancreatectomy hypoinsulinemia",1721,7,"1.0"]
["C2874124","Diabetes mellitus due to genetic defect in insulin action",1721,7,"1.0"]
["C2874125","Diabetes mellitus due to genetic defect in beta cell function",1721,7,"1.0"]
["C4290094","postprocedural diabetes mellitus",1721,7,"1.0"]
["C4290095","secondary diabetes mellitus NEC",1721,7,"1.0"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095","disease of metabolism"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814","disease of metabolism"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763","disease of metabolism"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649","disease of metabolism"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729","disease of metabolism"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197","disease of metabolism"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515","disease of metabolism"]
["C1504405","Pyramidal tract dysfunction",1639,7,"0.6368796863267676"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005","syndrome"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461","disease of anatomical entity"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461","disease of anatomical entity"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412"]
["C4013648","POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",1639,7,"0.7014987938469461"]
["C0270969","Zebra body myopathy",1568,7,"0.9874271886404451"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114","syndrome"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114","disease of anatomical entity"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451","disease of anatomical entity"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451","disease of anatomical entity"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451","disease of anatomical entity"]
["C4225181","MYOPATHY, SCAPULOHUMEROPERONEAL",1568,7,"0.9874271886404451"]
["C0001621","Adrenal Gland Diseases",1517,7,"0.8524907839149616","disease of anatomical entity"]
["C0042131","Uterine Diseases",1517,7,"0.9744696903112824","disease of anatomical entity"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824","disease of anatomical entity"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","disease of anatomical entity"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284","disease of anatomical entity"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824","disease of anatomical entity"]
["C1720816","Endometrial Diseases",1517,7,"0.9744696903112824","disease of anatomical entity"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875","disease of metabolism"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091","disease of metabolism"]
["C0086648","MPS III B",1514,7,"0.7005171555200794","disease of metabolism"]
["C0086649","MPS III C",1514,7,"0.6829832180569418","disease of metabolism"]
["C0086650","MPS III D",1514,7,"0.6024101198885113","disease of metabolism"]
["C4225287","RETINITIS PIGMENTOSA 73",1514,7,"0.3445245033785194","disease of anatomical entity"]
["C4225306","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",1514,7,"0.2715014461574377","disease of anatomical entity"]
["C0220987","Hereditary orotic aciduria",1374,7,"0.7065315829061334"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504","disease of metabolism"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321","disease of anatomical entity"]
["C3278622","OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA",1374,7,"0.7065315829061334"]
["C4021731","Pyrimidine-responsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4025287","Folate-unresponsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4225320","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",1374,7,"-0.18329244150023455","disease of metabolism"]
["C1833369","OROFACIAL CLEFT 3",1280,7,"0.9967601029660361"]
["C1835894","Orofacial Cleft 9",1280,7,"0.9967601029660361"]
["C1842143","Orofacial Cleft 4",1280,7,"0.9967601029660361"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126","physical disorder"]
["C1864323","OROFACIAL CLEFT 2",1280,7,"0.9967601029660361"]
["C2748505","Orofacial Cleft 12",1280,7,"0.9967601029660361"]
["C3151222","OROFACIAL CLEFT 13",1280,7,"0.9967601029660361"]
["C0454641","Expressive language delay",1249,7,"0.03949497349468351"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302","genetic disease"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712","genetic disease"]
["C4225255","YUAN-HAREL-LUPSKI SYNDROME",1249,7,"0.8444506671680055"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158","disease of anatomical entity"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252","disease of anatomical entity"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383","disease of anatomical entity"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892","disease of anatomical entity"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359","disease of anatomical entity"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886","disease of anatomical entity"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937","disease of anatomical entity"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063","disease of anatomical entity"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385","disease of anatomical entity"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832","disease of anatomical entity"]
["C0156147","Crohn\\'s disease of large bowel",1029,7,"0.6170203836221173","disease of anatomical entity"]
["C0267380","Crohn\\'s disease of the ileum",1029,7,"0.6547814613509333","disease of anatomical entity"]
["C0678202","Regional enteritis",1029,7,"0.6591136699546444","disease of anatomical entity"]
["C0949272","IIeocolitis",1029,7,"0.6545885072337488","disease of anatomical entity"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721","disease of anatomical entity"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901","disease of anatomical entity"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721","disease of anatomical entity"]
["C1843173","Charcot-Marie-Tooth disease, Type 2H",969,7,"0.8612066799351721"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721","disease of anatomical entity"]
["C0393556","Complicated hereditary spastic paraplegia",963,7,"0.72249728201469"]
["C0521670","Cranial nerve compression",963,7,"-0.2237250598717857"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469","disease of anatomical entity"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469","disease of anatomical entity"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469"]
["C4021582","Distal peripheral sensory neuropathy",963,7,"0.6231008219355161"]
["C4225253","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",963,7,"0.72249728201469","disease of anatomical entity"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","disease of metabolism"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","disease of anatomical entity"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","disease of metabolism"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","disease of anatomical entity"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","disease of metabolism"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","disease of anatomical entity"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","disease of metabolism"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","disease of anatomical entity"]
["C1843418","Niemann-Pick Disease, Type F",956,7,"0.9848973435834008"]
["C2675644","Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression",956,7,"0.9848973435834008"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","disease of metabolism"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","disease of anatomical entity"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754","disease of anatomical entity"]
["C0221271","Elastosis perforans serpiginosa",947,7,"0.17291487511306886"]
["C0238421","Selenium deficiency",947,7,"-0.3067286723565978"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535","disease of mental health"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535","disease of mental health"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535","disease of mental health"]
["C2751067","Parkinsonism-Dystonia, Infantile",947,7,"0.1389614173800297"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747","disease of anatomical entity"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603","disease of anatomical entity"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407","disease of anatomical entity"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304"]
["C2931642","Benign symmetrical lipomatosis",869,7,"0.8539929001192434"]
["C4025619","Peripheral axonal atrophy",869,7,"0.03204881303701446"]
["C4310725","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",869,7,"0.865759783759407"]
["C0157738","Chronic skin ulcer",799,7,"0.36881212157454607","disease of anatomical entity"]
["C0206141","Idiopathic Hypereosinophilic Syndrome",799,7,"0.8321346232469082","disease of anatomical entity"]
["C0206143","Loeffler\\'s Endocarditis",799,7,"0.8309972982949037","disease of anatomical entity"]
["C0263662","Disseminated eosinophilic collagen disease",799,7,"0.8417435364687668","disease of anatomical entity"]
["C0745091","Hypereosinophilia",799,7,"0.5766791817757657"]
["C1540912","Hypereosinophilic syndrome",799,7,"0.7655568201131454","disease of anatomical entity"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814"]
["C0030590","Paroxysmal supraventricular tachycardia",768,7,"0.9428429931621836"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469","syndrome"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469","disease of anatomical entity"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","syndrome"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","disease of anatomical entity"]
["C0281788","Biventricular hypertrophy",768,7,"0.9428429931621836"]
["C0559106","Ventricular preexcitation",768,7,"0.9219172999954353"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836","disease of anatomical entity"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836","disease of metabolism"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914","genetic disease"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914","disease of anatomical entity"]
["C1389102","Atrophy of the spinal cord",751,7,"0.537869109296383"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914","disease of anatomical entity"]
["C0019191","Infectious Canine Hepatitis",738,7,"1.0"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0","disease of anatomical entity"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0","disease of anatomical entity"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0"]
["C4013035","BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES",738,7,"1.0","disease of anatomical entity"]
["C4024975","Posterior leukoencephalopathy",738,7,"1.0"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705","disease of anatomical entity"]
["C0264789","Familial cardiomyopathy",731,7,"0.8191388975682928"]
["C1834481","CARDIOMYOPATHY, DILATED, 1S",731,7,"0.7107729389438642","disease of anatomical entity"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928"]
["C3150690","LEFT VENTRICULAR NONCOMPACTION 5",731,7,"0.8191388975682928","disease of anatomical entity"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928"]
["C0019624","Histiocytosis, Non-Langerhans-Cell",563,7,"0.9997076812797654","disease of anatomical entity"]
["C0878675","Erdheim-Chester Disease",563,7,"0.9982469751495253","disease of anatomical entity"]
["C1275336","Hashimoto-Pritzker syndrome",563,7,"0.9997076812797654"]
["C1402291","Pigmented lesions",563,7,"0.9997076812797654"]
["C1562010","Langerhans cell histiocytosis of lung",563,7,"0.9997076812797654"]
["C3150970","NOONAN SYNDROME 7",563,7,"0.9997076812797654","syndrome"]
["C3150971","LEOPARD SYNDROME 3",563,7,"0.9997076812797654","genetic disease"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","syndrome"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","genetic disease"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","disease of anatomical entity"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","syndrome"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","genetic disease"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","disease of anatomical entity"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","syndrome"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","genetic disease"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","disease of anatomical entity"]
["C0281890","Laryngeal web",537,7,"0.5513991455619012"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361","syndrome"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361","genetic disease"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361","disease of anatomical entity"]
["C4025208","Severe T-cell immunodeficiency",537,7,"0.4673363837780735"]
["C4540036","FRASER SYNDROME 2",537,7,"0.3853593638309096"]
["C0006848","Mucocutaneous candidiasis",524,7,"-0.07592702526490723"]
["C0032064","Plague",524,7,"0.6218490834498867","disease by infectious agent"]
["C0040561","Ocular Toxoplasmosis",524,7,"0.11717401218752989"]
["C0343052","Guttate psoriasis",524,7,"-0.0854688567919862","disease of anatomical entity"]
["C0406317","Chronic small plaque psoriasis",524,7,"0.5041323683753064"]
["C1262117","Fungal keratitis",524,7,"0.6218490834498867","disease of anatomical entity"]
["C1609432","manifestations of immunopathology",524,7,"0.6218490834498867"]
["C0002438","Amebiasis",475,7,"0.7036637071355158","disease by infectious agent"]
["C0013370","Amebic colitis",475,7,"0.7036637071355158","disease by infectious agent"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","disease of anatomical entity"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851","disease of anatomical entity"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158","disease of anatomical entity"]
["C3554225","LEPTIN RECEPTOR DEFICIENCY",475,7,"0.7126397460079514"]
["C0001916","Albinism",394,7,"0.08659321546951285","disease of metabolism"]
["C0001916","Albinism",394,7,"0.08659321546951285","genetic disease"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954","genetic disease"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","genetic disease"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088","genetic disease"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417","genetic disease"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933","genetic disease"]
["C3888401","ALBINISM, OCULOCUTANEOUS, TYPE V",394,7,"0.6377678052519968","genetic disease"]
["C0014548","Epilepsy, Generalized",326,7,"0.6191113348262938","disease of anatomical entity"]
["C0017332","Generalized Nonconvulsive Seizure Disorder",326,7,"0.9484384670829212","disease of anatomical entity"]
["C0086236","Epilepsy, Atonic",326,7,"0.9484384670829212","disease of anatomical entity"]
["C0086241","Epilepsy, Tonic",326,7,"0.9484384670829212","disease of anatomical entity"]
["C0270854","Symptomatic Generalized Epilepsy",326,7,"0.9479388859098604","disease of anatomical entity"]
["C0311334","Generalized convulsive epilepsy",326,7,"0.9484384670829212","disease of anatomical entity"]
["C0347869","Epilepsy, Akinetic",326,7,"0.9484384670829212","disease of anatomical entity"]
["C0348617","Other cardiomyopathies",240,7,"0.06765223003863212","disease of anatomical entity"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182","disease of anatomical entity"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182","genetic disease"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021"]
["C4014393","CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",240,7,"0.8644666438091182"]
["C0085084","Motor Neuron Disease",181,7,"0.3621454154929846","disease of anatomical entity"]
["C0154681","Anterior Horn Cell Disease",181,7,"0.8434165605709408","disease of anatomical entity"]
["C0154682","Lateral Sclerosis",181,7,"0.7355465095145428","disease of anatomical entity"]
["C0270763","Familial Motor Neuron Disease",181,7,"0.8621489647310797","disease of anatomical entity"]
["C0270764","Motor Neuron Disease, Lower",181,7,"0.8626323328967057","disease of anatomical entity"]
["C0521659","Motor Neuron Disease, Upper",181,7,"0.8621489647310797","disease of anatomical entity"]
["C0543858","Motor Neuron Disease, Secondary",181,7,"0.8621489647310797","disease of anatomical entity"]
["C0033999","Pterygium",178,7,"0.624708766534821","disease of anatomical entity"]
["C0042749","Viremia",178,7,"0.7067899325459075","disease by infectious agent"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164","disease of anatomical entity"]
["C0206608","Flavivirus Infections",178,7,"0.8433191715886285"]
["C0524911","Hepatitis D, Chronic",178,7,"0.8433191715886285"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","disease of anatomical entity"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","disease of anatomical entity"]
["C0398641","Epstein syndrome (disorder)",137,7,"0.9995844678655483","disease of anatomical entity"]
["C0403445","Fechtner syndrome (disorder)",137,7,"0.9995844678655483","disease of anatomical entity"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996","disease of anatomical entity"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483","disease of anatomical entity"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726","syndrome"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636","disease of anatomical entity"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003","disease of anatomical entity"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639"]
["C0340164","Lofgrens syndrome",104,7,"0.5970996544082956"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639"]
["C1304469","Localized vitiligo",104,7,"0.8822638238711639"]
["C0041105","Trismus",46,7,"0.5031468258950399"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823"]
["C0520758","Prolonged neuromuscular block",46,7,"0.8807519467495823"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382"]
["C1867467","Acholinesterasemia",46,7,"0.8807519467495823"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C1867470","Hypocholinesterasemia, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599","disease of anatomical entity"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175","disease of anatomical entity"]
["C0235989","Renal interstitial fibrosis",8,7,"0.8435672662936633"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027"]
["C0878576","Posterior Leukoencephalopathy Syndrome",8,7,"0.9264770333850133"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133"]
["C3160858","Posterior reversible encephalopathy syndrome",8,7,"0.9264770333850133"]
["C0270765","Myelopathic Muscular Atrophy",3,7,"0.89837165731556","disease of anatomical entity"]
["C0393541","Distal Spinal Muscular Atrophy",3,7,"0.7938015520840968","disease of anatomical entity"]
["C0393546","Oculopharyngeal Spinal Muscular Atrophy",3,7,"0.89837165731556","disease of anatomical entity"]
["C0751334","Progressive Proximal Myelopathic Muscular Atrophy",3,7,"0.89837165731556","disease of anatomical entity"]
["C0751335","Scapuloperoneal Form of Spinal Muscular Atrophy",3,7,"0.23472395381758301","disease of anatomical entity"]
["C0917981","Progressive Muscular Atrophy",3,7,"0.8391124368502302","disease of anatomical entity"]
["C3661519","Hereditary Motor Neuronopathy",3,7,"0.89837165731556","disease of anatomical entity"]
["C0032371","Poliomyelitis",2192,6,"1.0","disease by infectious agent"]
["C0032371","Poliomyelitis",2192,6,"1.0","disease of anatomical entity"]
["C0555971","Oral infection",2192,6,"1.0"]
["C0751445","Encephalitis, Polio",2192,6,"1.0","disease by infectious agent"]
["C0751445","Encephalitis, Polio",2192,6,"1.0","disease of anatomical entity"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0","disease by infectious agent"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0","disease of anatomical entity"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0","disease by infectious agent"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0","disease of anatomical entity"]
["C1527258","Infantile paralysis",2192,6,"1.0","disease by infectious agent"]
["C1527258","Infantile paralysis",2192,6,"1.0","disease of anatomical entity"]
["C0007862","Cervico-Brachial Neuralgia",2138,6,"0.999916502869803","disease of anatomical entity"]
["C0085920","Brachial Neuralgia",2138,6,"0.999916502869803","disease of anatomical entity"]
["C0221759","Brachial Plexus Neuritis",2138,6,"0.999916502869803","disease of anatomical entity"]
["C0700251","Brachial Plexus Neuropathies",2138,6,"0.999916502869803","disease of anatomical entity"]
["C1510479","Neuralgic Amyotrophy",2138,6,"0.999916502869803","disease of anatomical entity"]
["C1834304","AMYOTROPHY, HEREDITARY NEURALGIC",2138,6,"0.9995804126684312","disease of anatomical entity"]
["C0013447","Ear Diseases",2068,6,"0.9975842949713284","disease of anatomical entity"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693","disease of anatomical entity"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693","disease of anatomical entity"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693","disease of anatomical entity"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693","disease of anatomical entity"]
["C4023720","Cystic lesions of the pinnae",2068,6,"0.9995167617141693"]
["C1843807","Basal ganglia disease, biotin-responsive",1880,6,"0.09961392733652241","disease of anatomical entity"]
["C1851915","Abnormal facial muscle tone",1880,6,"0.6973555473280061"]
["C4023011","Craniofacial dystonia",1880,6,"0.6973555473280061"]
["C4072883","Abnormal craniofacial posture",1880,6,"0.6973555473280061"]
["C4310634","DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",1880,6,"0.24201927626570696"]
["C4310743","STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",1880,6,"0.2752157980350304"]
["C0023009","Speech and language disorder",1869,6,"0.3117899244885336"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795","disease of mental health"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036"]
["C3281084","Congenital disorder of glycosylation type 1r",1869,6,"-0.1604413123167158","disease of metabolism"]
["C4021845","Oromotor apraxia",1869,6,"0.3874830477702107"]
["C4310833","INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN",1869,6,"0.11609787534550929"]
["C0206750","Coronavirus Infections",1846,6,"0.7293398185397326"]
["C0282687","Hemorrhagic Fever, Ebola",1846,6,"0.16044861831789892","disease by infectious agent"]
["C0702135","Primary atypical pneumonia",1846,6,"0.8167081241366331","disease of anatomical entity"]
["C1412002","Atypical pneumonia",1846,6,"0.8167081241366331","disease of anatomical entity"]
["C3694279","Middle East Respiratory Syndrome",1846,6,"0.5768900183603317"]
["C4540188","NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",1846,6,"0.8167081241366331"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997"]
["C0151604","Genital edema",1819,6,"0.738826503950998"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998"]
["C4025182","Exercise-induced hemolysis",1819,6,"0.738826503950998"]
["C4225184","LYMPHEDEMA, HEREDITARY, III",1819,6,"0.738826503950998"]
["C4225242","DEHYDRATED HEREDITARY STOMATOCYTOSIS 2",1819,6,"-0.03416240762849514"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982","genetic disease"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982","disease of anatomical entity"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","genetic disease"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","genetic disease"]
["C2939174","Medullary cystic disease",1609,6,"0.45796531755379355","genetic disease"]
["C3150877","SENIOR-LOKEN SYNDROME 7",1609,6,"0.5749325326275226","genetic disease"]
["C3889474","BARDET-BIEDL SYNDROME 16",1609,6,"-0.15177959363882892","genetic disease"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0","disease of metabolism"]
["C2749685","CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)",1567,6,"1.0","disease of metabolism"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0","disease of metabolism"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0","disease of metabolism"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0","disease of metabolism"]
["C4316899","Cystinosis",1567,6,"1.0","disease of metabolism"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","disease of metabolism"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383","disease of metabolism"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383","disease of metabolism"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383","disease of metabolism"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383","disease of metabolism"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383"]
["C0010823","Cytomegalovirus Infections",1534,6,"0.6755742786632634"]
["C0026918","Mycobacterium Infections",1534,6,"0.7287136674355542","disease by infectious agent"]
["C0340639","Carotid artery aneurysm",1534,6,"0.8878052037818089"]
["C3151088","IMMUNODEFICIENCY 31B",1534,6,"0.8786081321831024"]
["C3279990","CANDIDIASIS, FAMILIAL, 7",1534,6,"0.8878052037818089","disease by infectious agent"]
["C4013950","IMMUNODEFICIENCY 31A",1534,6,"0.8878052037818089"]
["C0154209","Hyperestrogenism",1516,6,"0.9920146521832814","disease of anatomical entity"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814"]
["C0853662","Oestrogen deficiency",1516,6,"0.9706426284991281"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","disease of anatomical entity"]
["C1838780","Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease",1487,6,"1.0"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0"]
["C3280939","ATRIOVENTRICULAR SEPTAL DEFECT 5",1487,6,"1.0","disease of anatomical entity"]
["C3280943","ATRIAL SEPTAL DEFECT 9",1487,6,"1.0","disease of anatomical entity"]
["C3888085","PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",1487,6,"1.0"]
["C4012454","HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",1487,6,"1.0"]
["C0154822","Serous retinal detachment",1473,6,"0.28080632735466743","disease of anatomical entity"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","disease of anatomical entity"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489","disease of anatomical entity"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317","disease of anatomical entity"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605"]
["C3280205","RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",1473,6,"0.13086365991194404"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904","disease of anatomical entity"]
["C1527284","Dental Pulp Stone",1447,6,"0.929948550601483","disease of anatomical entity"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904"]
["C2750327","Hearing loss, sensorineural (high frequency)",1447,6,"0.9853361620923904"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904","disease of anatomical entity"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904","disease of anatomical entity"]
["C0268559","Hyperglycinemia",1355,6,"0.2512969663981975"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886","disease of metabolism"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285","disease of metabolism"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285","disease of metabolism"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285","disease of metabolism"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","disease of metabolism"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762","disease of anatomical entity"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914","disease of anatomical entity"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914","disease of anatomical entity"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","disease of anatomical entity"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914","disease of anatomical entity"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","disease of anatomical entity"]
["C0001890","Akinetic Petit Mal",1326,6,"0.8258188499216335","disease of anatomical entity"]
["C0014553","Absence Epilepsy",1326,6,"0.6375263018664784","disease of anatomical entity"]
["C0751124","Epilepsy, Absence, Atypical",1326,6,"0.8258188499216335","disease of anatomical entity"]
["C1838604","EPILEPSY, CHILDHOOD ABSENCE, 1",1326,6,"0.2716756322258953"]
["C4281785","Childhood Absence Epilepsy",1326,6,"0.8269372775744822","disease of anatomical entity"]
["C4317339","Juvenile Absence Epilepsy",1326,6,"0.8258188499216335","disease of anatomical entity"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313","genetic disease"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659","genetic disease"]
["C1866505","Ichthyosis, Congenital, with Trichothiodystrophy",1293,6,"0.7387805067133496"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558","genetic disease"]
["C4024961","Metachromatic leukodystrophy variant",1293,6,"0.7387805067133496"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501","genetic disease"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093","genetic disease"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093","genetic disease"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093","genetic disease"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093","genetic disease"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093","genetic disease"]
["C0238304","Chronic interstitial nephritis",1221,6,"0.5079926130781431","disease of anatomical entity"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736","genetic disease"]
["C3280598","SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",1221,6,"0.6435137564077629","genetic disease"]
["C3280612","NEPHRONOPHTHISIS 13",1221,6,"0.6435137564077629","genetic disease"]
["C3280616","CRANIOECTODERMAL DYSPLASIA 4",1221,6,"0.4321476416969241","disease of anatomical entity"]
["C4225376","SENIOR-LOKEN SYNDROME 8",1221,6,"0.6435137564077629"]
["C0741916","Cardiac defects",1211,6,"0.1695060358123374"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421","disease of anatomical entity"]
["C2931638","Chromosome 8, monosomy 8p23 1",1211,6,"0.8020305089104421"]
["C3280777","VENTRICULAR SEPTAL DEFECT 1",1211,6,"0.8020305089104421","disease of anatomical entity"]
["C3280781","ATRIOVENTRICULAR SEPTAL DEFECT 4",1211,6,"0.8020305089104421","disease of anatomical entity"]
["C3809858","TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE",1211,6,"0.8020305089104421"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637","disease of anatomical entity"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497","disease of anatomical entity"]
["C3276096","ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS",1207,6,"0.7703110005684497","disease of anatomical entity"]
["C3280785","VENTRICULAR SEPTAL DEFECT 3",1207,6,"0.7703110005684497","disease of anatomical entity"]
["C3280795","HYPOPLASTIC LEFT HEART SYNDROME 2",1207,6,"0.602452932946423","disease of anatomical entity"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497"]
["C0156259","Hypertrophy of kidney",1198,6,"0.9755319573696319","disease of anatomical entity"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319","disease of anatomical entity"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319"]
["C1842534","DYSTONIA 18 (disorder)",1198,6,"0.8296927339960722","disease of anatomical entity"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319"]
["C3149117","GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",1198,6,"0.9755319573696319"]
["C0342482","X-linked Adrenal Hypoplasia",1180,6,"0.458298165746049","disease of anatomical entity"]
["C0795887","Complex Glycerol Kinase Deficiency",1180,6,"0.8097284676200114","genetic disease"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095","disease of anatomical entity"]
["C1868690","Hypoadrenocorticism, familial",1180,6,"0.780931783419923","disease of anatomical entity"]
["C3887896","Primary Adrenal Insufficiency",1180,6,"0.626300617743963"]
["C4505291","Xp21 Contiguous Gene Deletion Syndrome",1180,6,"0.8097284676200114"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597","disease of mental health"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","disease of anatomical entity"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668","disease of anatomical entity"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277","disease of anatomical entity"]
["C3549544","ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C4225331","46,XY SEX REVERSAL 10",1175,6,"0.967585231757277"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555","physical disorder"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555","disease of anatomical entity"]
["C0949690","Spondylarthritis",1173,6,"0.7980260053315987","disease of anatomical entity"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567","disease of anatomical entity"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567","disease of anatomical entity"]
["C3549874","METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY",1173,6,"0.9586769150749567"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227","disease of metabolism"]
["C0268121","APRT deficiency, Japanese type",1166,6,"0.7256790722110227"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535"]
["C1291390","Deficiency of phosphorylase kinase",1166,6,"0.7256790722110227"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299","disease of anatomical entity"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227","disease of metabolism"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713","syndrome"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713","disease of anatomical entity"]
["C0238062","Chronic intestinal pseudo-obstruction",1125,6,"0.8851738954991655"]
["C0266833","Visceral Myopathy, Familial",1125,6,"0.8851738954991655"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772","syndrome"]
["C1835084","Megaduodenum and-or Megacystis",1125,6,"0.8823397396478201","syndrome"]
["C1864996","Visceral Neuropathy, Familial, Autosomal Dominant",1125,6,"0.8851738954991655","syndrome"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","disease of anatomical entity"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0"]
["C0033139","Primary Insomnia",1098,6,"1.0"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0"]
["C0751249","Chronic Insomnia",1098,6,"1.0"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577","disease of anatomical entity"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233","disease of anatomical entity"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531","disease of anatomical entity"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005","disease of anatomical entity"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558","disease of anatomical entity"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233","disease of anatomical entity"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928","disease of anatomical entity"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936","disease of anatomical entity"]
["C0877017","Generalized tonic-clonic seizures with focal onset",1040,6,"0.24941196879596317"]
["C1850764","EPILEPSY, PROGRESSIVE MYOCLONIC 2B",1040,6,"0.8496640535115283","disease of anatomical entity"]
["C1850765","Visual auras",1040,6,"0.8592873956258936"]
["C4317153","Simple partial occipital seizures",1040,6,"0.8592873956258936"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","disease of anatomical entity"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887"]
["C1275345","Familial mastocytosis",1027,6,"0.7060233065158887"]
["C1837203","WAARDENBURG SYNDROME, TYPE IID",1027,6,"0.08207467360116744","genetic disease"]
["C4024848","Absent pigmentation of the ventral chest",1027,6,"0.6806030340524898"]
["C4509020","Isolated bone marrow mastocytosis",1027,6,"0.7060233065158887"]
["C0544008","Chandler syndrome",958,6,"0.6827524243787404","disease of anatomical entity"]
["C1611195","Congenital corneal dystrophy",958,6,"0.6297921518794525"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624","disease of anatomical entity"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412","disease of anatomical entity"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502","disease of anatomical entity"]
["C0028850","Ocular Motility Disorders",944,6,"1.0","disease of anatomical entity"]
["C1836217","Tukel syndrome",944,6,"1.0","disease of anatomical entity"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0","disease of anatomical entity"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0","disease of anatomical entity"]
["C3808397","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",944,6,"1.0","disease of anatomical entity"]
["C4024789","Nonprogressive restrictive external ophthalmoplegia",944,6,"1.0"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112","disease of anatomical entity"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251","disease of anatomical entity"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251","disease of anatomical entity"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251","disease of anatomical entity"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251","disease of anatomical entity"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251","disease of anatomical entity"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741","genetic disease"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404","genetic disease"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583","genetic disease"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269","genetic disease"]
["C2910340","Asphyxiating thoracic dysplasia [Jeune]",936,6,"0.09035794376709302","genetic disease"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499"]
["C1839022","Striatonigral Degeneration, Infantile, Mitochondrial",926,6,"0.9495225248828499","disease of anatomical entity"]
["C3275684","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",926,6,"0.9495225248828499"]
["C4225415","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",926,6,"0.7476245432308887","disease of anatomical entity"]
["C4225591","MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)",926,6,"0.9495225248828499"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757","disease of metabolism"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115","disease of metabolism"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066","disease of metabolism"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443","disease of metabolism"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115","disease of metabolism"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115","disease of metabolism"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147","physical disorder"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643","physical disorder"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247","physical disorder"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247","physical disorder"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103","physical disorder"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247","physical disorder"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944","disease of anatomical entity"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235","disease of anatomical entity"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235","disease of anatomical entity"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235","disease of anatomical entity"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235","disease of anatomical entity"]
["C1866751","Spinocerebellar tract degeneration",830,6,"0.14732935719479365"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0","disease of metabolism"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0"]
["C1856491","Gaucher Disease, Type IIIa",825,6,"1.0"]
["C1856492","Gaucher Disease, Type IIIb",825,6,"1.0"]
["C1856493","Gaucher Disease, Norrbottnian Type",825,6,"1.0"]
["C2931585","Gaucher-like disease",825,6,"1.0"]
["C0398621","Hypoplasminogenemia",806,6,"1.0"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0"]
["C4225445","PLASMINOGEN DEFICIENCY, TYPE II",806,6,"1.0"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644","disease of anatomical entity"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531","disease of anatomical entity"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938","disease of anatomical entity"]
["C1828221","Non dystrophic myotonia",774,6,"0.5916309905416627"]
["C1959600","Obscure African cardiomyopathy",774,6,"0.86557682095558","disease of anatomical entity"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425","disease of anatomical entity"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957","disease of metabolism"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957","disease of anatomical entity"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","disease of metabolism"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","disease of anatomical entity"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398"]
["C0494360","Lipodystrophy, not elsewhere classified",746,6,"0.3287782726532428","disease of anatomical entity"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444","disease of anatomical entity"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944","disease of anatomical entity"]
["C1833308","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V",745,6,"-0.5162988033870547"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003","disease of anatomical entity"]
["C2608087","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB",745,6,"0.36126552597097733"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678"]
["C4021578","Chronic axonal neuropathy",745,6,"0.16708847183798495"]
["C0432418","Trisomy 21- mitotic nondisjunction mosaicism",724,6,"1.0"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0","genetic disease"]
["C3550789","THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",724,6,"1.0","disease of anatomical entity"]
["C3550856","ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",724,6,"1.0"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492","disease of anatomical entity"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702","disease of anatomical entity"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696","disease of anatomical entity"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116","disease of anatomical entity"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498","disease of anatomical entity"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108","disease of anatomical entity"]
["C0025637","Methemoglobinemia",658,6,"0.35530870263789033","disease of anatomical entity"]
["C0272087","Congenital Methemoglobinemia",658,6,"0.7408610909015111"]
["C2749559","Methemoglobinemia, Type I",658,6,"0.8600842424357462"]
["C2749560","Methemoglobinemia, Type Ii",658,6,"0.8600842424357462"]
["C2749561","Nadh-Cytochrome B5 Reductase Deficiency, Type I",658,6,"0.8600842424357462"]
["C2749562","Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",658,6,"0.8600842424357462"]
["C0409896","Familial chondrocalcinosis",605,6,"0.8107807238763005"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","disease of metabolism"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","disease of anatomical entity"]
["C0856830","Calcium pyrophosphate arthropathy",605,6,"0.8107807238763005","disease of anatomical entity"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214","disease of anatomical entity"]
["C3279807","CRANIOECTODERMAL DYSPLASIA 3",605,6,"0.7028732630561377","disease of anatomical entity"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148","disease of mental health"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305","physical disorder"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305","physical disorder"]
["C3463992","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",592,6,"0.8317749686210503","disease of anatomical entity"]
["C0024214","Lymphangiectasis",530,6,"0.6760153254740777"]
["C0024236","Lymphedema",530,6,"-0.03265059806078997","disease of anatomical entity"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861","genetic disease"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861","disease of anatomical entity"]
["C1313885","Hereditary edema of legs",530,6,"0.6760153254740776","disease of anatomical entity"]
["C1704423","Milroy Disease",530,6,"0.535007958582348","genetic disease"]
["C1704423","Milroy Disease",530,6,"0.535007958582348","disease of anatomical entity"]
["C4014628","LYMPHEDEMA, HEREDITARY, ID",530,6,"0.36209830077269245"]
["C0543968","Cone dysfunction syndrome",476,6,"0.9195113948520234"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","disease of anatomical entity"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","disease of anatomical entity"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403","disease of anatomical entity"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127"]
["C3151784","MACULAR DEGENERATION, X-LINKED ATROPHIC",476,6,"0.982799499958127"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","disease of anatomical entity"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327","disease of anatomical entity"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609","disease of anatomical entity"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006","disease of anatomical entity"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572","disease of anatomical entity"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216","disease of anatomical entity"]
["C2677565","AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)",438,6,"0.9826350552897193","disease of anatomical entity"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996"]
["C3148872","FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193","disease of anatomical entity"]
["C3150169","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193","disease of anatomical entity"]
["C3150171","FTLD-TDP, TARDBP-RELATED",438,6,"0.9826350552897193","disease of anatomical entity"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819"]
["C0149778","Soft Tissue Infections",420,6,"0.9162993573373813"]
["C0264515","Pneumonia, Necrotizing",420,6,"0.9415573225512234"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234","disease of mental health"]
["C1846131","Photosensitive tonic-clonic seizures",420,6,"0.9415573225512234"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","disease of mental health"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","genetic disease"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","disease of anatomical entity"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697","genetic disease"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175","genetic disease"]
["C3279392","PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695","genetic disease"]
["C3279393","PXE, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C4531299","Premature occlusive vascular stenosis",393,6,"0.09607115322396818"]
["C0472761","Homozygous alpha thalassemia",366,6,"0.970112026302299","genetic disease"]
["C0475813","Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder",366,6,"0.9663750839256856"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","genetic disease"]
["C0878520","beta Thalassemia, heterozygous",366,6,"0.8692861543865809"]
["C1260396","Alpha thalassemia intermedia",366,6,"0.970112026302299"]
["C3161174","Hemoglobin H Disease",366,6,"0.9066147473341469","genetic disease"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819","disease of anatomical entity"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819","genetic disease"]
["C3150989","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",351,6,"0.9524686161520819","disease of anatomical entity"]
["C4024942","Late-onset muscular dystrophy",351,6,"0.7987897505255578"]
["C4225309","EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY",351,6,"0.9524686161520819"]
["C0221259","Trichiasis",348,6,"1.0"]
["C0395973","Recessive sensorineural hearing loss",348,6,"1.0"]
["C0452136","Conductive hearing loss, bilateral",348,6,"1.0"]
["C0478084","Other congenital ichthyosis",348,6,"1.0","genetic disease"]
["C0478084","Other congenital ichthyosis",348,6,"1.0","disease of anatomical entity"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0","disease of anatomical entity"]
["C0029442","Osteomalacia",339,6,"0.005119648623869788","disease of anatomical entity"]
["C0235394","Wasting",339,6,"0.5685219587206719"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","disease of anatomical entity"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716"]
["C0393698","Cryptogenic Infantile Spasms",306,6,"0.9757643589272029","disease of anatomical entity"]
["C0393699","Symptomatic Infantile Spasms",306,6,"0.9757643589272029","disease of anatomical entity"]
["C0546878","Nodding spasm",306,6,"0.9757643589272029","disease of anatomical entity"]
["C0553558","Jackknife Seizures",306,6,"0.9757643589272029","disease of anatomical entity"]
["C1527306","spasmus nutans",306,6,"0.9757643589272029","disease of anatomical entity"]
["C1527366","Salaam Seizures",306,6,"0.8865591049575577","disease of anatomical entity"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","disease of anatomical entity"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984","genetic disease"]
["C1863391","Vogt Cephalodactyly",268,6,"0.9112906808164984"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239","disease of anatomical entity"]
["C3281247","BENT BONE DYSPLASIA SYNDROME",268,6,"0.9112906808164984","disease of anatomical entity"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723","disease of metabolism"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723","disease of anatomical entity"]
["C0282193","Iron Overload",241,6,"-0.07758041863174105","disease of metabolism"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784","disease of metabolism"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062","disease of metabolism"]
["C1858583","HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",241,6,"0.26468488753674224","disease of metabolism"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664"]
["C0000833","Abscess",222,6,"0.581505321423442"]
["C0268419","Acatalasia",222,6,"0.8911954096941628","disease of metabolism"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628","disease of metabolism"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628","disease of metabolism"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628","disease of metabolism"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628","disease of metabolism"]
["C0033300","Progeria",184,6,"0.6345171388494887","genetic disease"]
["C0270254","Hydrops of placenta",184,6,"0.8972865878833377"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349","disease of anatomical entity"]
["C0685924","Adhesions of temporomandibular joint",184,6,"0.8972865878833377"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377"]
["C0011156","Deficiency Diseases",180,6,"0.36174723865131375"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244","disease of anatomical entity"]
["C0232197","Fibrillation",180,6,"0.21342216278468734"]
["C0270780","Degenerative myelopathy",180,6,"0.5159609591113244"]
["C3542025","AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",180,6,"0.1648685959396861","disease of anatomical entity"]
["C3825201","Mitochondrial pathology",180,6,"0.4423756692204582"]
["C0020595","Hypoaldosteronism",157,6,"0.1961937930001835"]
["C0268293","Corticosterone Methyl Oxidase Type I Deficiency",157,6,"0.5550612094891115"]
["C0376185","Hypoaldosteronism, Hyporeninemic",157,6,"0.5550612094891115"]
["C0701163","Adrenogenital disorder",157,6,"0.32536153033283927","disease of metabolism"]
["C3463917","Corticosterone Methyl Oxidase Type II Deficiency",157,6,"0.5550612094891115"]
["C3713420","Familial Hyperaldosteronism",157,6,"0.11995130846431504"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814","syndrome"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814","disease of anatomical entity"]
["C0041228","African Trypanosomiasis",156,6,"-0.05304669301863994","disease by infectious agent"]
["C0085740","Mendelson Syndrome",156,6,"-0.14479271600563814","disease of anatomical entity"]
["C0340520","Athlete\\'s heart",156,6,"0.39154354883114173"]
["C1321756","Achalasia",156,6,"-0.20450268771115046","disease of anatomical entity"]
["C1867403","Pyloric Stenosis, Infantile Hypertrophic 1",156,6,"-0.3744174322734409","disease of anatomical entity"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873","disease of anatomical entity"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827","disease of anatomical entity"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153","disease of anatomical entity"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181","disease of anatomical entity"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396"]
["C2717961","Thrombotic Microangiopathies",134,6,"0.15056548950475487","disease of anatomical entity"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496","disease of anatomical entity"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792"]
["C1096155","Macrophage Activation Syndrome",112,6,"0.4606583798699249"]
["C4015067","AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS",112,6,"0.46628036569364917"]
["C4015276","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4",112,6,"0.46628036569364917","disease of anatomical entity"]
["C4225218","AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",112,6,"-0.1117809686920282"]
["C0031069","Familial Mediterranean Fever",86,6,"0.9229180407194504","disease of anatomical entity"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013","syndrome"]
["C0151859","Polyserositis",86,6,"0.9279116111185013"]
["C0585274","Periodic syndrome",86,6,"0.7999244510282996"]
["C1851347","Familial Mediterranean Fever, Autosomal Dominant",86,6,"0.9279116111185013","disease of anatomical entity"]
["C3267073","Autoinflammatory disease",86,6,"0.696311485670011"]
["C0019247","Hereditary Diseases",73,6,"0.8360101580381964"]
["C0037176","Single-Gene Defects",73,6,"0.8425313121540062"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","disease of anatomical entity"]
["C1956089","Osteophyte",73,6,"0.5536156371508102","disease of anatomical entity"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","disease of anatomical entity"]
["C0030499","Parasitic Diseases",66,6,"0.70907731445352"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742","disease of cellular proliferation"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742","disease of anatomical entity"]
["C0155880","Intrinsic asthma",66,6,"0.9266062655996742","disease of anatomical entity"]
["C0311368","Idiopathic eosinophilia",66,6,"0.9266062655996742","disease of anatomical entity"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742","disease by infectious agent"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742","disease of anatomical entity"]
["C1322281","Seasonal rhinitis",66,6,"0.9266062655996742"]
["C0235419","Hyperuricemic nephropathy",50,6,"0.997573961104989"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","disease of anatomical entity"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989"]
["C3280216","HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",50,6,"0.997573961104989","disease of anatomical entity"]
["C4020705","Glomerulocystic kidney disease",50,6,"0.99059824428434"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334","disease of anatomical entity"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801","disease of anatomical entity"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423","disease of anatomical entity"]
["C0235522","Disorder of vein",15,6,"0.9904669110156423","disease of anatomical entity"]
["C0749087","Thrombosis of subclavian vein",15,6,"0.9904669110156423"]
["C1853831","Bleeding Disorder, East Texas Type",15,6,"0.9904669110156423"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423"]
["C2584620","Thrombophilia, hereditary",15,6,"0.9353652690662111"]
["C0007177","Cardiac Tamponade",14,6,"0.729147014733889","disease of anatomical entity"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461","disease of anatomical entity"]
["C0085307","Embolism and Thrombosis",14,6,"0.443470289383963"]
["C0750949","Vertebrogenic Pain Syndrome",14,6,"0.7301506248948058"]
["C2676721","Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C2676722","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349","disease of anatomical entity"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826","disease of anatomical entity"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658","disease of anatomical entity"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337","disease of anatomical entity"]
["C1838230","SPINAL MUSCULAR ATROPHY, TYPE IV",4,6,"0.6303982245856342","disease of anatomical entity"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495","disease of anatomical entity"]
["C0268241","Pancreatic colipase deficiency",2083,5,"1.0"]
["C3280527","PANCREATIC LIPASE DEFICIENCY",2083,5,"1.0"]
["C3280528","COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C3280529","LIPASE AND COLIPASE, DEFICIENCY OF",2083,5,"1.0"]
["C3280530","LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221"]
["C1840364","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",2019,5,"0.673654338282343"]
["C2937288","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",2019,5,"0.6748968612989924","disease of anatomical entity"]
["C2940786","Thyroid Hormone Resistance Syndrome",2019,5,"0.5561212833631795","disease of anatomical entity"]
["C3280817","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",2019,5,"0.0563628462130201","disease of anatomical entity"]
["C3489796","Thyroid Hormone Resistance, Generalized, Autosomal Recessive",2019,5,"0.6748968612989924","disease of anatomical entity"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496"]
["C1291560","Deficiency of glutamate decarboxylase",1995,5,"0.5501185709836273"]
["C1849508","EPILEPSY, PYRIDOXINE-DEPENDENT",1995,5,"0.4039462108640794"]
["C4014621","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25",1995,5,"0.2836531644246132"]
["C4310632","EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",1995,5,"0.2487001495425813"]
["C1850343","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME",1974,5,"0.5511721923257112","syndrome"]
["C1864389","PREMATURE CHROMATID SEPARATION TRAIT",1974,5,"0.1419757855409024"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288"]
["C3279843","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",1974,5,"0.20760954377828894","syndrome"]
["C4539839","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3",1974,5,"0.15638233159140782"]
["C0014378","Enterovirus Infections",1854,5,"0.010236797056306087"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438","disease of metabolism"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229","disease of metabolism"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567","disease of metabolism"]
["C3150876","COG5 congenital disorder of glycosylation",1854,5,"0.16907535155741946","disease of metabolism"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978","disease of anatomical entity"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639","disease of anatomical entity"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978","disease of anatomical entity"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195"]
["C4511057","Congenital muscular dystrophy Paradas type",1851,5,"0.9965337209002978"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934","disease by infectious agent"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934","disease of anatomical entity"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821","disease by infectious agent"]
["C0022408","Arthropathy",1850,5,"0.3414743229593591","disease of anatomical entity"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026","disease by infectious agent"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104","disease by infectious agent"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103","disease of anatomical entity"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914"]
["C1835039","Melanosis, Universal",1847,5,"0.8519229792530103"]
["C1840392","HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",1847,5,"0.8519229792530103"]
["C4225241","DEAFNESS, AUTOSOMAL DOMINANT 69",1847,5,"0.8519229792530103","disease of anatomical entity"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0","disease of anatomical entity"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0","disease of anatomical entity"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0","disease of anatomical entity"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","disease of anatomical entity"]
["C4015286","MACULAR DEGENERATION, EARLY-ONSET",1833,5,"1.0"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456","disease of anatomical entity"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","disease of anatomical entity"]
["C0264885","Myxoid transformation of mitral valve",1829,5,"0.8035512099629083"]
["C3554279","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",1829,5,"0.7956855749996385"]
["C4509918","Polyvalvular heart disease syndrome",1829,5,"0.8035512099629083"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336","disease of anatomical entity"]
["C0477506","Other specified nonscarring hair loss",1795,5,"0.6383419119718972","disease of anatomical entity"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464","disease of anatomical entity"]
["C2750815","Marie Unna Hereditary Hypotrichosis 1",1795,5,"0.8169625301232976","disease of anatomical entity"]
["C2931059","Marie Unna congenital hypotrichosis",1795,5,"0.7014044744662146"]
["C1859228","Cerebrohepatorenal Syndrome, Variant Types",1771,5,"1.0"]
["C3550234","PEROXISOME BIOGENESIS DISORDER 2B",1771,5,"1.0","disease of anatomical entity"]
["C3550273","PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)",1771,5,"1.0"]
["C3550274","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",1771,5,"1.0"]
["C4225237","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",1771,5,"1.0","genetic disease"]
["C0393912","Segmental Autonomic Dysfunction",1765,5,"1.0"]
["C0750944","Peripheral Autonomic Nervous System Diseases",1765,5,"1.0"]
["C0750945","Nervous System Diseases, Parasympathetic",1765,5,"1.0"]
["C0750946","Nervous System Diseases, Sympathetic",1765,5,"1.0"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","disease of anatomical entity"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","disease of anatomical entity"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698","disease of anatomical entity"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083","disease of anatomical entity"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674","disease of anatomical entity"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674","disease of anatomical entity"]
["C0393577","Pallidal degeneration",1760,5,"0.5824712588268566"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387","disease of anatomical entity"]
["C3550973","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5",1760,5,"0.0008224967299390304","disease of anatomical entity"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","genetic disease"]
["C3280113","NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",1753,5,"0.9455386127908967","disease of anatomical entity"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","genetic disease"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373","genetic disease"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692","genetic disease"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0","disease of anatomical entity"]
["C3151065","Cataract, Posterior Polar, 2",1747,5,"1.0","disease of anatomical entity"]
["C3151236","MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",1747,5,"1.0","disease of anatomical entity"]
["C3554649","CARDIOMYOPATHY, DILATED, 1II",1747,5,"1.0","disease of anatomical entity"]
["C3808377","CATARACT 16, MULTIPLE TYPES",1747,5,"1.0","disease of anatomical entity"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","syndrome"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","genetic disease"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","disease of anatomical entity"]
["C0265856","Hypoplasia of right heart",1735,5,"0.5925835487683471"]
["C0344963","Right hypoplastic heart syndrome",1735,5,"0.5925835487683471"]
["C4225164","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",1735,5,"0.5925835487683471","syndrome"]
["C4225363","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",1735,5,"0.055851280077416444","syndrome"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944","disease of metabolism"]
["C0221168","Podagra",1710,5,"0.8225380418005229","disease of anatomical entity"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959","disease of metabolism"]
["C0740394","Hyperuricemia",1710,5,"0.03535227515319863","disease of metabolism"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229","disease of metabolism"]
["C0403719","Uric acid urolithiasis",1709,5,"0.6422766674534127","disease of anatomical entity"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","disease of mental health"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","disease of anatomical entity"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305","disease of anatomical entity"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305"]
["C0221333","Hypouricemia",1708,5,"0.12946930590856384"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576"]
["C0744466","gout tophaceous",1708,5,"0.730238388189677"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677"]
["C2677551","GOUT SUSCEPTIBILITY 2",1708,5,"0.730238388189677"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","syndrome"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","genetic disease"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","disease of anatomical entity"]
["C0271007","Phthisis bulbi",1694,5,"0.1501664216321542","disease of anatomical entity"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483","genetic disease"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055","genetic disease"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465","genetic disease"]
["C0154748","Lesion of Sciatic Nerve",1685,5,"0.8539797045288393","disease of anatomical entity"]
["C0242013","Sciatic Neuritis",1685,5,"0.8539797045288393","disease of anatomical entity"]
["C0751924","Neuralgia-Neuritis, Sciatic Nerve",1685,5,"0.8539797045288393","disease of anatomical entity"]
["C0751925","Sciatic Nerve Palsy",1685,5,"0.8539797045288393","disease of anatomical entity"]
["C3809803","MICROPHTHALMIA, SYNDROMIC 12",1685,5,"0.38920436977425665"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","disease of metabolism"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811","disease of metabolism"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526","disease of metabolism"]
["C1857390","Cystinuria, Type A-B",1676,5,"0.9745055476398384"]
["C1288283","Atrophoderma maculatum",1657,5,"0.08431152027243953"]
["C3281045","CONE-ROD DYSTROPHY 16",1657,5,"0.7784678986723551","disease of anatomical entity"]
["C3281046","RETINITIS PIGMENTOSA 64",1657,5,"0.7833253612152383","disease of anatomical entity"]
["C4049066","Retinal dystrophy with early macular involvement",1657,5,"0.7663194196614513","disease of anatomical entity"]
["C4319932","BARDET-BIEDL SYNDROME 21",1657,5,"0.7833253612152383"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374","disease of metabolism"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711","disease of metabolism"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711","disease of metabolism"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592","disease of metabolism"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628","disease of metabolism"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169","disease of metabolism"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295","disease of metabolism"]
["C1844412","Liver Glycogenosis, X-Linked, Type II",1644,5,"0.7599745654210066"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066","disease of metabolism"]
["C3694531","GLYCOGEN STORAGE DISEASE IXa1",1644,5,"0.7599745654210066","disease of metabolism"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","disease of anatomical entity"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","disease of anatomical entity"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106","disease of anatomical entity"]
["C3280266","NARCOLEPSY 7",1629,5,"-0.2147329552818631","disease of mental health"]
["C4310800","SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",1629,5,"0.6853346079299106","disease of anatomical entity"]
["C3539010","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",1594,5,"1.0"]
["C3542026","PEROXISOME BIOGENESIS DISORDER 5B",1594,5,"1.0"]
["C3553940","PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)",1594,5,"1.0"]
["C3553941","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",1594,5,"1.0"]
["C3553942","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",1594,5,"1.0"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444","disease of metabolism"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","disease of metabolism"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365","disease of metabolism"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616","disease of metabolism"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283","disease of metabolism"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","disease of anatomical entity"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186","disease of anatomical entity"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353","disease of anatomical entity"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733","disease of anatomical entity"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126","disease of anatomical entity"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","genetic disease"]
["C3554105","PERRAULT SYNDROME 2",1551,5,"0.24707933299286597","genetic disease"]
["C3808414","PERRAULT SYNDROME 3",1551,5,"0.31581968578772746","genetic disease"]
["C3809105","PERRAULT SYNDROME 4",1551,5,"0.5180309817283943","genetic disease"]
["C4310761","HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",1551,5,"0.31372328962368096"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568","disease of anatomical entity"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188","disease of anatomical entity"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355"]
["C3810230","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6",1501,5,"-0.04945486343765596","disease of anatomical entity"]
["C4020811","Length dependent motor neuropathy",1501,5,"0.4003814008500861"]
["C0023501","Leukemoid Reaction",1493,5,"0.5419678429417788"]
["C0259743","Autosomal recessive SCID",1493,5,"0.5419678429417788"]
["C0451694","Severe combined immunodeficiency with low or normal B-cell numbers",1493,5,"0.6248151313098189","disease of anatomical entity"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788"]
["C3809383","IMMUNODEFICIENCY 8",1493,5,"0.08153646319258152"]
["C1306557","Chronic venous insufficiency",1490,5,"0.4197229613425671","disease of anatomical entity"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412","disease of anatomical entity"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501","disease of anatomical entity"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787","disease of anatomical entity"]
["C4024769","Reticular pigmentary degeneration",1490,5,"0.8097167702994019"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","genetic disease"]
["C3280203","WARBURG MICRO SYNDROME 3",1435,5,"-0.06258504762671371","genetic disease"]
["C3280214","WARBURG MICRO SYNDROME 2",1435,5,"0.23112283544863307","genetic disease"]
["C3810265","WARBURG MICRO SYNDROME 4",1435,5,"-0.06942722286925986","genetic disease"]
["C0267809","Cirrhosis, Cryptogenic",1431,5,"0.999597534729279","disease of anatomical entity"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232"]
["C1876166","Endemic Tyrolean Infantile Cirrhosis",1431,5,"0.9996601104552232"]
["C0009451","Communicating Hydrocephalus",1423,5,"0.8396907037589559","disease of anatomical entity"]
["C0270720","Hydrocephalus Ex-Vacuo",1423,5,"0.9282510595005322","disease of anatomical entity"]
["C0477432","Post-Traumatic Hydrocephalus",1423,5,"0.9282510595005322","disease of anatomical entity"]
["C0549423","Obstructive Hydrocephalus",1423,5,"0.8902721931853674","disease of anatomical entity"]
["C2936786","Aqueductal Stenosis",1423,5,"0.875456687988016","disease of anatomical entity"]
["C0155760","Rupture of artery",1420,5,"0.6702383025982454"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151","disease of anatomical entity"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911"]
["C2936777","Nevo syndrome (disorder)",1420,5,"0.6160724138576151","disease of anatomical entity"]
["C4023719","Spontaneous rupture of the globe",1420,5,"0.6160724138576151"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264","disease of anatomical entity"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842","disease of anatomical entity"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952"]
["C0752196","Ballismus",1418,5,"0.8988442563550952"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038","disease of anatomical entity"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547","disease of anatomical entity"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102","disease of anatomical entity"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102","disease of anatomical entity"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102","disease of anatomical entity"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552","genetic disease"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075","genetic disease"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916","genetic disease"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075"]
["C1306229","Dyschromatosis universalis",1386,5,"0.9205461551351056"]
["C1836705","Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",1386,5,"0.9205461551351056"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992","disease of anatomical entity"]
["C3281027","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7",1386,5,"0.9205461551351056"]
["C3809394","DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3",1386,5,"0.9205461551351056","disease of anatomical entity"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862","disease of anatomical entity"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407","disease of anatomical entity"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671","disease of anatomical entity"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206","disease of anatomical entity"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988","disease of anatomical entity"]
["C0085293","Hepatitis E",1360,5,"0.32903898421665645","disease by infectious agent"]
["C0276609","Acute type B viral hepatitis",1360,5,"0.6354784963878342"]
["C0520788","Posttransfusion viral hepatitis",1360,5,"0.49133120035388833"]
["C0814152","Viral hepatitis, type G",1360,5,"0.266753976030262"]
["C3839044","Compensated liver disease",1360,5,"0.4712488114866798"]
["C0152457","Kayser-Fleischer ring",1358,5,"0.33703077800327974"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","disease of metabolism"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783"]
["C4024907","Mixed demyelinating and axonal polyneuropathy",1358,5,"0.4261864154025783"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105","disease by infectious agent"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105"]
["C3809719","ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",1340,5,"0.704759334739796"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644","disease of anatomical entity"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843"]
["C2910342","Inherited keratosis palmaris et plantaris",1205,5,"0.9758777861766843","disease of anatomical entity"]
["C2910343","Keratosis follicularis [Darier-White]",1205,5,"0.9758777861766843","disease of anatomical entity"]
["C4024891","Hyperkeratosis with erythema",1205,5,"0.9758777861766843"]
["C0342549","Familial Testotoxicosis",1189,5,"0.7986635229057605"]
["C1504412","Testotoxicosis",1189,5,"0.9446853246923097"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097"]
["C0001623","Adrenal gland hypofunction",1181,5,"-0.13489356862675858","disease of anatomical entity"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558","disease of anatomical entity"]
["C3151406","SPERMATOGENIC FAILURE 8",1181,5,"0.6890546489703558","disease of anatomical entity"]
["C4479664","ADRENAL INSUFFICIENCY, NR5A1-RELATED",1181,5,"0.6890546489703558","disease of anatomical entity"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624","disease of anatomical entity"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624","disease of anatomical entity"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624","disease of anatomical entity"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624","disease of anatomical entity"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383","disease of anatomical entity"]
["C0027121","Myositis",1129,5,"0.7716076278102184","disease of anatomical entity"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149","disease of anatomical entity"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149","disease of anatomical entity"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035","disease of anatomical entity"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149","disease of anatomical entity"]
["C1839928","IRIS HYPOPLASIA WITH GLAUCOMA",1128,5,"0.961006916034191","genetic disease"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191","genetic disease"]
["C1866561","Glaucoma Iridogoniodysplasia, Familial",1128,5,"0.961006916034191"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305","genetic disease"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191","disease of anatomical entity"]
["C0264694","Chronic myocardial ischemia",1118,5,"0.0008821836519978632","disease of anatomical entity"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","disease of anatomical entity"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466"]
["C1837839","CARDIOMYOPATHY, DILATED, 1O",1118,5,"0.7584832467371466","disease of anatomical entity"]
["C3279695","ATRIAL FIBRILLATION, FAMILIAL, 12",1118,5,"0.7584832467371466","disease of anatomical entity"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696","genetic disease"]
["C1861306","Synostosis of Talus and Calcaneus with Short Stature",1108,5,"0.9539326140162592"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592","disease of anatomical entity"]
["C3714899","SYMPHALANGISM, PROXIMAL, 1A",1108,5,"0.933751820815308","genetic disease"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749","disease of anatomical entity"]
["C3150987","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",1036,5,"0.7853360683812317","disease of anatomical entity"]
["C4023515","Dialeptic seizures",1036,5,"0.8967851343553571"]
["C4049830","Focal seizures, afebril",1036,5,"0.8967851343553571"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0","disease of anatomical entity"]
["C1852587","EPILEPSY, BENIGN NEONATAL, 1",1035,5,"1.0"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0","disease of anatomical entity"]
["C3149074","SEIZURES, BENIGN FAMILIAL NEONATAL, 1",1035,5,"1.0","disease of anatomical entity"]
["C3149075","SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",1035,5,"1.0","disease of anatomical entity"]
["C0152216","Esophoria",1016,5,"1.0","disease of anatomical entity"]
["C1836929","Emanuel syndrome",1016,5,"1.0"]
["C1861129","Takao VCF Syndrome",1016,5,"1.0"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","genetic disease"]
["C3150966","Supernumerary der(22)t(8"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144","disease of anatomical entity"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486","disease of anatomical entity"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204","disease of anatomical entity"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615","disease of anatomical entity"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615","disease of anatomical entity"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","disease of anatomical entity"]
["C0029191","Orchitis",1002,5,"0.22429933198955482","disease of anatomical entity"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258","disease of anatomical entity"]
["C0149745","Oral Ulcer",1002,5,"-0.02283327277077203","disease of anatomical entity"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616","disease of anatomical entity"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656","disease of anatomical entity"]
["C1096274","Corneal thinning",974,5,"0.6577658267875326"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391","disease of anatomical entity"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391","disease of anatomical entity"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391","disease of anatomical entity"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528","genetic disease"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294","disease of anatomical entity"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187","disease of anatomical entity"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861","disease of anatomical entity"]
["C0015456","Facial Dermatoses",941,5,"1.0","disease of anatomical entity"]
["C0015704","Favre-Racouchot Syndrome",941,5,"1.0","disease of anatomical entity"]
["C0343097","Nodular Elastoidosis",941,5,"1.0","disease of anatomical entity"]
["C3151189","C9 Deficiency",941,5,"1.0","disease of anatomical entity"]
["C3810042","MACULAR DEGENERATION, AGE-RELATED, 15",941,5,"1.0","disease of anatomical entity"]
["C0149841","Benign recurrent intrahepatic cholestasis",930,5,"-0.21421721799221513"]
["C0268312","Progressive intrahepatic cholestasis (disorder)",930,5,"0.19100678841023794","disease of anatomical entity"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125"]
["C0742395","Cholestasis, chronic",930,5,"0.046384677680306186"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329","disease of anatomical entity"]
["C1864567","CATARACT, POSTERIOR POLAR, 4 (disorder)",917,5,"0.9202954405633545","disease of anatomical entity"]
["C1970386","Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",917,5,"0.9202954405633545"]
["C3808029","CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES",917,5,"0.9202954405633545"]
["C4305131","Cataract glaucoma syndrome",917,5,"0.9202954405633545"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624","disease of anatomical entity"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688","disease of anatomical entity"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209","disease of anatomical entity"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658","disease of anatomical entity"]
["C3278148","BERNARD-SOULIER SYNDROME, TYPE A1",900,5,"0.935479939014467","disease of anatomical entity"]
["C0270733","Striatonigral Degeneration",886,5,"0.63782679517134","disease of anatomical entity"]
["C0393911","Pure Autonomic Failure",886,5,"0.6358882719830289","disease of anatomical entity"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372","disease of metabolism"]
["C3551954","COENZYME Q10 DEFICIENCY, PRIMARY, 1",886,5,"0.596994348389225","disease of metabolism"]
["C0238590","Acrogeria",836,5,"0.917843561336474"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918","disease of anatomical entity"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521","disease of anatomical entity"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474"]
["C1853365","AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1",836,5,"0.917843561336474","disease of anatomical entity"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765","disease of anatomical entity"]
["C1858154","CARDIOMYOPATHY, DILATED, 1I",832,5,"0.8344094586458832","disease of anatomical entity"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757"]
["C3809137","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R",832,5,"0.8344094586458832"]
["C0085623","Akinesia",821,5,"0.12382033685444625"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023"]
["C4225367","MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"0.18646269144342278","disease of anatomical entity"]
["C4225368","MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"-0.13461018234663405","disease of anatomical entity"]
["C1836694","Striatal Degeneration, Autosomal Dominant",820,5,"1.0"]
["C3280094","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",820,5,"1.0","disease of anatomical entity"]
["C4022417","Degeneration of the striatum",820,5,"1.0"]
["C4024947","Symmetric lesions of the basal ganglia",820,5,"1.0"]
["C4310808","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",820,5,"1.0","disease of anatomical entity"]
["C1449718","Endocrine Breast Diseases",816,5,"1.0","disease of anatomical entity"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","genetic disease"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","disease of anatomical entity"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0","genetic disease"]
["C1851879","Cleft Lip with or without Cleft Palate, Nonsyndromic, 8",816,5,"1.0"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0","genetic disease"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612"]
["C0264906","Second degree atrioventricular block",788,5,"0.955702896673057"]
["C3554018","SINOATRIAL NODE DYSFUNCTION AND DEAFNESS",788,5,"0.955702896673057"]
["C3809609","PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",788,5,"0.955702896673057"]
["C4023501","Focal myoclonic seizures",788,5,"0.955702896673057"]
["C0008525","Choroideremia",784,5,"0.005265973717552532","disease of anatomical entity"]
["C0344297","Choroidal sclerosis",784,5,"0.5706909950367378","disease of anatomical entity"]
["C1536451","Central areolar choroidal sclerosis",784,5,"0.08872272413980947","disease of anatomical entity"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146","disease of anatomical entity"]
["C2931258","Amaurosis congenita of Leber, type 1",784,5,"0.32651852497600636","disease of anatomical entity"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","genetic disease"]
["C1955768","Potassium sensitive periodic paralysis",771,5,"0.999680409462536"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536","disease of anatomical entity"]
["C2875318","Myotonic periodic paralysis (familial)",771,5,"0.999680409462536"]
["C2875319","Normokalemic paralysis (familial)",771,5,"0.999680409462536"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966","disease of anatomical entity"]
["C0271683","Polyneuropathy, Motor",752,5,"0.6097223738829489","disease of anatomical entity"]
["C0393851","Polyneuropathy, Critical Illness",752,5,"0.6954672334595603","disease of anatomical entity"]
["C0751448","Polyneuropathy, Familial",752,5,"0.7015166355769995","disease of anatomical entity"]
["C0751449","Acquired Polyneuropathy",752,5,"0.6954672334595603","disease of anatomical entity"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0","disease of metabolism"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0","disease of metabolism"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0","disease of metabolism"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0","disease of metabolism"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0"]
["C0018022","Endemic goiter",678,5,"0.622590013900868","disease of metabolism"]
["C0018022","Endemic goiter",678,5,"0.622590013900868","disease of anatomical entity"]
["C0302859","Euthyroid Goiter",678,5,"0.8190903156047202","disease of anatomical entity"]
["C0342208","Multinodular goiter",678,5,"0.6026990144130777","disease of anatomical entity"]
["C1846034","Euthyroid multinodular goiter",678,5,"0.8674578999222015"]
["C4053514","Nasal Chondromesenchymal Hamartoma",678,5,"0.8674578999222015"]
["C0151861","Porphyruria",677,5,"0.9634850647942104"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103","disease of metabolism"]
["C0342860","Homozygous variegate porphyria",677,5,"0.9634850647942104"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885","disease of metabolism"]
["C3149848","VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT",677,5,"0.9634850647942104"]
["C0272315","Coagulation factor deficiency syndrome",639,5,"0.4016372355927287"]
["C0272323","Moderate hereditary factor VIII deficiency disease",639,5,"0.6706288898742829"]
["C0472801","Hemophilia A carrier",639,5,"0.7816274237700827"]
["C1096116","Acquired haemophilia",639,5,"0.8585073024109673"]
["C2873785","Deficiency of factor V [labile]",639,5,"0.8585073024109673","disease of anatomical entity"]
["C0151281","Genital ulcers",626,5,"1.0"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0","disease of anatomical entity"]
["C1865371","SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",626,5,"1.0","disease of anatomical entity"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0","disease of anatomical entity"]
["C1865373","SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",626,5,"1.0","disease of anatomical entity"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","disease of anatomical entity"]
["C0477324","Other combined immunodeficiencies",625,5,"0.5070714535312029","disease of anatomical entity"]
["C1832322","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",625,5,"0.7021714179644835","disease of anatomical entity"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772","disease of anatomical entity"]
["C0023003","Langer-Giedion Syndrome",619,5,"0.6029616457186685","genetic disease"]
["C0265255","Trichorhinophalangeal syndrome",619,5,"0.8493397346442323"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162","genetic disease"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162","genetic disease"]
["C1860826","Coxa Magna",619,5,"0.9269340348085162"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692"]
["C4022179","Stenosis of the medullary cavity of the long bones",615,5,"0.47691330616982575"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747"]
["C0021099","Impetigo",596,5,"0.7394560861547314","disease of anatomical entity"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775","disease of anatomical entity"]
["C0036285","Scarlet Fever",596,5,"0.7394560861547314","disease of anatomical entity"]
["C0036689","Streptococcal sore throat",596,5,"0.4528640899527099"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979","disease of anatomical entity"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","disease of metabolism"]
["C1291314","Deficiency of monooxygenase",594,5,"0.638464011983188"]
["C1291557","Deficiency of lyase",594,5,"0.8755887536869028"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","disease of metabolism"]
["C4329212","17-Alpha-Hydroxylase/17,20 Lyase Deficiency",594,5,"0.8972134193349166"]
["C0043325","Xanthomatosis",584,5,"-0.28826065805726636","disease of metabolism"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334"]
["C0302314","Xanthoma",584,5,"0.23136353835168352","disease of metabolism"]
["C0302314","Xanthoma",584,5,"0.23136353835168352","disease of anatomical entity"]
["C4280602","Xanthelasma of periocular region",584,5,"0.38020978048416476"]
["C0004608","Retinopathy background",579,5,"0.5498824121417797","disease of anatomical entity"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859","disease of anatomical entity"]
["C0423361","Posterior Vitreous Detachment",579,5,"0.2491610862225742","disease of anatomical entity"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708","disease of anatomical entity"]
["C4072980","Exudative vitreoretinopathy",579,5,"0.6501299474582313"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835","disease of anatomical entity"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065","disease of anatomical entity"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054"]
["C3887937","CONE DYSTROPHY 5, X-LINKED",569,5,"0.6526334772650098","disease of anatomical entity"]
["C3887938","COLORBLINDNESS, PARTIAL, DEUTAN SERIES",569,5,"0.6411923191078364","disease of anatomical entity"]
["C0024586","Malignant Carcinoid Syndrome",542,5,"1.0"]
["C0342777","Succinate-coenzyme Q reductase deficiency",542,5,"1.0"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","disease of cellular proliferation"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","disease of anatomical entity"]
["C3532243","Fatal infantile mitochondrial cardiomyopathy",542,5,"1.0"]
["C3554516","COWDEN SYNDROME 3",542,5,"1.0"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587","genetic disease"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587","disease of anatomical entity"]
["C0239816","Hand eczema",529,5,"0.8374027201381419"]
["C1304345","Occupational irritant contact dermatitis",529,5,"0.8520279601616959"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959","disease of anatomical entity"]
["C3662483","Allergic sensitization",529,5,"0.36999745758899866"]
["C0857069","Chronic candidiasis",526,5,"1.0"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0","disease of anatomical entity"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0","disease of anatomical entity"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0","disease of anatomical entity"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258","disease of anatomical entity"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","disease of metabolism"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","disease of anatomical entity"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732","genetic disease"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732","disease of anatomical entity"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299","disease of anatomical entity"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423","disease of anatomical entity"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776","disease of anatomical entity"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252","disease of anatomical entity"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083","disease of anatomical entity"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924","genetic disease"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978","genetic disease"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644","genetic disease"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572","disease of anatomical entity"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","genetic disease"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568","disease of metabolism"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568","genetic disease"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458","genetic disease"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","genetic disease"]
["C0019295","Inguinal Hernia, Direct",496,5,"1.0","disease of anatomical entity"]
["C0019296","Inguinal Hernia, Indirect",496,5,"1.0","disease of anatomical entity"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0","genetic disease"]
["C2674876","LOEYS-DIETZ SYNDROME, TYPE 1B",496,5,"1.0"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845","disease of metabolism"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379","disease of metabolism"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896","disease of metabolism"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","disease of metabolism"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277","disease of metabolism"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899","disease of anatomical entity"]
["C0333997","Lymphoid hyperplasia",486,5,"0.4251036218063374"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216","disease of anatomical entity"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758","disease of anatomical entity"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244","disease of anatomical entity"]
["C0281967","Retinal infarction",471,5,"0.9949322243477006"]
["C1846837","Aortic Aneurysm, Familial Thoracic 2",471,5,"0.9949322243477006","disease of anatomical entity"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447","disease of anatomical entity"]
["C3151201","MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME",471,5,"0.9949322243477006"]
["C3279690","MOYAMOYA DISEASE 5",471,5,"0.9949322243477006","disease of anatomical entity"]
["C0012819","Diverticular disease of colon",459,5,"0.3302093137892965"]
["C0149754","Cellulitis of periorbital region",459,5,"0.3207606961331051"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417","genetic disease"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293"]
["C4025788","Nystagmus-induced head nodding",459,5,"0.4324756212869811"]
["C0021933","Intussusception",442,5,"0.1303982126527871","disease of anatomical entity"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","disease of cellular proliferation"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","disease of anatomical entity"]
["C0282207","Cronkhite-Canada Syndrome",442,5,"0.7870149386653003"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682"]
["C1333088","Colonic hamartomatous polyps",442,5,"0.7870149386653003"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383","disease of anatomical entity"]
["C0175708","Chronic rheumatic heart disease",421,5,"0.7649934920516644"]
["C0543698","Hypersensitive syndrome",421,5,"0.6531657451922412"]
["C2363973","Chronic thromboembolic pulmonary hypertension",421,5,"0.7649934920516644"]
["C3697982","Pulmonary arterial hypertension associated with connective tissue disease",421,5,"0.7649934920516644"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212","disease by infectious agent"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212","disease of anatomical entity"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188","disease of anatomical entity"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991","disease of anatomical entity"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077","disease of anatomical entity"]
["C1866121","Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive",404,5,"0.9118170574071562"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723","genetic disease"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333"]
["C2700265","Waardenburg Syndrome Type 2",397,5,"0.038494415989644315"]
["C2700405","WAARDENBURG SYNDROME, TYPE IIE",397,5,"0.7457627395862221","genetic disease"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832","genetic disease"]
["C1504404","Hippocampal sclerosis",377,5,"0.08852767818615044"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466","disease of mental health"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466","disease of anatomical entity"]
["C3539123","CEROID LIPOFUSCINOSIS, NEURONAL, 11",377,5,"0.8127624006985731","disease of metabolism"]
["C4022574","Limb apraxia",377,5,"0.8127624006985731"]
["C4275079","Posterior cortical atrophy syndrome",377,5,"0.8127624006985731"]
["C0270951","Ocular muscular dystrophy",375,5,"0.9975255625889035","disease of anatomical entity"]
["C2875311","Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy",375,5,"0.9975255625889035"]
["C2875312","Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]",375,5,"0.9975255625889035"]
["C2875313","Severe [Duchenne] muscular dystrophy",375,5,"0.9897582487876501","disease of anatomical entity"]
["C3264046","Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber",375,5,"0.9975255625889035"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085","genetic disease"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204","genetic disease"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667","genetic disease"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987","genetic disease"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249","genetic disease"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083","genetic disease"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716","genetic disease"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365","disease of anatomical entity"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365","disease of anatomical entity"]
["C4021534","Adult onset sensorineural hearing impairment",350,5,"0.6684020847974365"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706","disease of anatomical entity"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815","disease of anatomical entity"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815","disease of anatomical entity"]
["C3151038","ACNE INVERSA, FAMILIAL, 3",344,5,"0.9996247206634815","disease of anatomical entity"]
["C3160720","Cardiomyopathy, Dilated, 1u",344,5,"0.9996247206634815","disease of anatomical entity"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208"]
["C2829265","DEAFNESS, AUTOSOMAL RECESSIVE 86",327,5,"0.9411293476366208","disease of anatomical entity"]
["C3809173","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16",327,5,"0.6826169017122271","disease of anatomical entity"]
["C3892048","DEAFNESS, AUTOSOMAL DOMINANT 65",327,5,"0.9411293476366208","disease of anatomical entity"]
["C0023600","Leydig cell hyperplasia",308,5,"0.9936041361873322"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322","disease of anatomical entity"]
["C0342386","Follicle stimulating hormone deficiency",308,5,"0.9936041361873322"]
["C0403824","Teratozoospermia",308,5,"0.9753882553379186"]
["C1856716","Follicle-stimulating hormone deficiency, isolated",308,5,"0.9927611091750643","disease of anatomical entity"]
["C0394004","Congenital non-progressive ataxia",285,5,"0.9487477937836131","disease of anatomical entity"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131","disease of anatomical entity"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585","disease of anatomical entity"]
["C4274987","Spinocerebellar ataxia type 29",285,5,"0.9487477937836131"]
["C0221405","Pituitary cachexia",283,5,"0.9999999999999991","disease of anatomical entity"]
["C0271577","Isolated gonadotropin deficiency",283,5,"0.9999999999999991","disease of anatomical entity"]
["C0342381","Idiopathic growth hormone deficiency",283,5,"0.9999999999999991","disease of anatomical entity"]
["C2874188","Isolated deficiency of pituitary hormone",283,5,"0.9999999999999991","disease of anatomical entity"]
["C2874190","Pituitary short stature",283,5,"0.9999999999999991","disease of anatomical entity"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152","disease of anatomical entity"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785","disease of anatomical entity"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785","disease of anatomical entity"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785","disease of anatomical entity"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785","disease of anatomical entity"]
["C0008058","Chilblains",206,5,"1.0"]
["C0275544","Congenital infectious disease",206,5,"1.0","disease by infectious agent"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0","disease of metabolism"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0","genetic disease"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0"]
["C3150315","AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",206,5,"1.0","genetic disease"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","disease of metabolism"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","disease of metabolism"]
["C1835875","Normocytic hypoplastic anemia",203,5,"0.997303787706911"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","disease of metabolism"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405","genetic disease"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405","disease of anatomical entity"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103","disease of anatomical entity"]
["C0341047","Hypertrophy of parotid gland",174,5,"0.9983831783696103"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103","disease of anatomical entity"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103","disease of anatomical entity"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306","disease by infectious agent"]
["C0221028","Neonatal thrombocytopenia (disorder)",133,5,"0.8635815007906218"]
["C0598221","Hereditary protein C deficiency",133,5,"0.8635815007906218"]
["C2585959","Homozygous protein C deficiency",133,5,"0.8635815007906218"]
["C2585960","Heterozygous protein C deficiency",133,5,"0.8635815007906218"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","disease of anatomical entity"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765","disease of anatomical entity"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498"]
["C4012050","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1",120,5,"0.7817917811240498","disease of anatomical entity"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695","disease of anatomical entity"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893","disease of anatomical entity"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251","disease of anatomical entity"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537","disease of anatomical entity"]
["C0031106","Periodontitis, Juvenile",96,5,"0.9124733506672643","disease of anatomical entity"]
["C0600298","Periodontosis",96,5,"0.9774677082030622","disease of anatomical entity"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622","disease of anatomical entity"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719","disease of anatomical entity"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296","disease of anatomical entity"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074","disease of anatomical entity"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074","disease of anatomical entity"]
["C0155616","Secondary hypertension",49,5,"0.8223626374010304","disease of anatomical entity"]
["C0264638","Low-renin essential hypertension",49,5,"0.8223626374010304"]
["C0264641","Endocrine hypertension",49,5,"0.8223626374010304"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368","disease of anatomical entity"]
["C4511620","Autosomal dominant tubulointerstitial kidney disease",49,5,"0.1442801985459706"]
["C0730278","Severe nonproliferative diabetic retinopathy",43,5,"0.9843506110917806","disease of anatomical entity"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806"]
["C3554321","BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",43,5,"0.9843506110917806","disease of anatomical entity"]
["C4225270","KOSAKI OVERGROWTH SYNDROME",43,5,"0.9843506110917806"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122","disease of anatomical entity"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414"]
["C1852242","Nonarteritic anterior ischemic optic neuropathy (NAION)",41,5,"0.8646401604930963"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694","disease of cellular proliferation"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694","disease of anatomical entity"]
["C4024935","Subcortical dementia",41,5,"0.8646401604930963"]
["C2584611","Hereditary protein S deficiency",35,5,"1.0"]
["C3278211","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",35,5,"1.0"]
["C3281092","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",35,5,"1.0"]
["C3502051","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",35,5,"1.0"]
["C3502052","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",35,5,"1.0"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282","disease of anatomical entity"]
["C0027013","Myeloid Metaplasia",33,5,"0.6234898378908553"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282","disease of cellular proliferation"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282","disease of anatomical entity"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282","disease of cellular proliferation"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282","disease of anatomical entity"]
["C4022560","Splanchnic vein thrombosis",33,5,"0.6234898378908553"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","disease of anatomical entity"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872","disease of anatomical entity"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872","disease of anatomical entity"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872","disease of anatomical entity"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872","disease of anatomical entity"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389","genetic disease"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118","disease of anatomical entity"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398","genetic disease"]
["C0338573","Cerebral venous sinus thrombosis",18,5,"0.8268104579573398"]
["C3203356","Factor II deficiency",18,5,"0.8268104579573398","disease of anatomical entity"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301","syndrome"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301","disease of anatomical entity"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582"]
["C0268123","Muscle AMP deaminase deficiency",2139,4,"0.7930888377878672"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834"]
["C3714933","MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY",2139,4,"0.549760968191284"]
["C0162677","Caliciviridae Infections",2117,4,"1.0"]
["C0206044","Infections, Calicivirus",2117,4,"1.0"]
["C2712971","Enteritis due to Norovirus",2117,4,"1.0"]
["C3534585","Infection caused by Norovirus",2117,4,"1.0"]
["C0477729","Other chronic tubulo-interstitial nephritis",2104,4,"1.0","disease of anatomical entity"]
["C1392616","Nonobstructive chronic pyelonephritis NOS",2104,4,"1.0","disease of anatomical entity"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0"]
["C3553774","INTERSTITIAL NEPHRITIS, KARYOMEGALIC",2104,4,"1.0","disease of anatomical entity"]
["C0154207","Other specified disorders of adrenal gland",2093,4,"1.0","disease of anatomical entity"]
["C0271749","Abnormality of cortisol-binding globulin",2093,4,"1.0","disease of anatomical entity"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0","disease of anatomical entity"]
["C1969107","Corticosteroid-Binding Globulin, Elevated",2093,4,"1.0","disease of anatomical entity"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0"]
["C3887992","THYROTROPIN-RELEASING HORMONE DEFICIENCY",2066,4,"1.0"]
["C0014556","Epilepsy, Temporal Lobe",2052,4,"0.6995476836933364","disease of anatomical entity"]
["C0014558","Uncinate Epilepsy",2052,4,"0.90625446164869","disease of anatomical entity"]
["C0393672","Epilepsy, Benign Psychomotor, Childhood",2052,4,"0.90625446164869","disease of anatomical entity"]
["C0393682","Epilepsy, Lateral Temporal",2052,4,"0.9057152939271543","disease of anatomical entity"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549","physical disorder"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091","physical disorder"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091","genetic disease"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549","physical disorder"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044","genetic disease"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433"]
["C0009088","Cluster Headache",2026,4,"0.10847072985948918","disease of anatomical entity"]
["C0854739","Advanced sleep phase",2026,4,"0.7471456632218765"]
["C0854740","Delayed sleep phase",2026,4,"0.7471456632218765"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","genetic disease"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981","genetic disease"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","genetic disease"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","genetic disease"]
["C0265241","Franceschetti-Klein syndrome",2006,4,"0.5350980980337097"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804","genetic disease"]
["C3150983","TREACHER COLLINS SYNDROME 2",2006,4,"0.18259377074664826","genetic disease"]
["C4225305","LEUKODYSTROPHY, HYPOMYELINATING, 11",2006,4,"0.43718790385001804","disease of anatomical entity"]
["C1834659","Muscular dystrophy, limb-girdle, type 1A",2002,4,"1.0"]
["C1836607","MYOTILINOPATHY",2002,4,"1.0"]
["C1866785","Spheroid body myopathy",2002,4,"1.0","disease of anatomical entity"]
["C3714934","MYOPATHY, MYOFIBRILLAR, 3",2002,4,"1.0","disease of anatomical entity"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027","genetic disease"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195","disease of anatomical entity"]
["C4479357","ANAUXETIC DYSPLASIA 2",1965,4,"0.20955860028436096"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0","disease of anatomical entity"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0","disease of anatomical entity"]
["C3150681","CARDIOMYOPATHY, DILATED, 1R",1955,4,"1.0","disease of anatomical entity"]
["C3150682","LEFT VENTRICULAR NONCOMPACTION 4",1955,4,"1.0","disease of anatomical entity"]
["C1864171","Peroxisome Biogenesis Disorder, Complementation Group 12",1937,4,"1.0"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0"]
["C3553999","PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)",1937,4,"1.0"]
["C4479254","PEROXISOME BIOGENESIS DISORDER 10B",1937,4,"1.0"]
["C0040820","Trematode Infections",1925,4,"0.18360826675399552","disease by infectious agent"]
["C0151740","Intracranial Hypertension",1925,4,"-0.006788146055624757","disease of anatomical entity"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026","genetic disease"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453","disease of anatomical entity"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804","disease of anatomical entity"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804","disease of anatomical entity"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284","disease of anatomical entity"]
["C3810212","JOUBERT SYNDROME 21",1902,4,"-0.0016848070386000556","genetic disease"]
["C4084822","JOUBERT SYNDROME 23",1902,4,"0.5096217763521104","genetic disease"]
["C4225286","SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",1902,4,"0.5096217763521104","genetic disease"]
["C4518774","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",1902,4,"0.5516313445750163"]
["C0014544","Epilepsy",1901,4,"0.5069372905650225","disease of anatomical entity"]
["C0086237","Epilepsy, Cryptogenic",1901,4,"0.5300347625933439","disease of anatomical entity"]
["C0543888","Epileptic encephalopathy",1901,4,"-0.028323523327071172"]
["C0751111","Awakening Epilepsy",1901,4,"0.5298326275394245","disease of anatomical entity"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878"]
["C1864902","Hyperinsulinemic hypoglycemia, familial, 7",1872,4,"0.8835242099319878","disease of metabolism"]
["C1864904","Exercise-induced hyperinsulinism",1872,4,"0.6838780716446347"]
["C4015186","MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY",1872,4,"0.8835242099319878"]
["C0029410","Osteoarthritis of hip",1871,4,"0.6120331263438924"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982","disease of anatomical entity"]
["C1851537","Fairbank disease",1871,4,"0.8840146461282982"]
["C1851538","Epiphyseal Dysplasia, Ribbing Type",1871,4,"0.8840146461282982"]
["C0015652","Fascioliasis",1867,4,"0.6277408674588577","disease by infectious agent"]
["C0268576","Hyperleucinemia",1867,4,"0.3830044297417646"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182"]
["C1847555","Hyperinsulinemic hypoglycemia, familial, 6",1867,4,"0.3830044297417646","disease of metabolism"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787","disease of anatomical entity"]
["C1834330","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",1858,4,"0.4806017775377787","disease of anatomical entity"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749"]
["C4024765","Peripapillary chorioretinal atrophy",1858,4,"0.6666053456996756"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324"]
["C3809004","CATARACT 19, MULTIPLE TYPES",1841,4,"0.2355600140911948","disease of anatomical entity"]
["C3888097","CATARACT 21, MULTIPLE TYPES",1841,4,"0.4010445085297324","disease of anatomical entity"]
["C4021568","Cortical pulverulent cataract",1841,4,"0.6346485928827926"]
["C0152439","Retinoschisis",1820,4,"0.9186218991170633","disease of anatomical entity"]
["C0271091","Retinoschisis, Juvenile, X-Linked",1820,4,"0.967418984468633","disease of anatomical entity"]
["C1137478","Retinoschisis, Degenerative",1820,4,"0.9750308190586006","disease of anatomical entity"]
["C3714753","RETINOSCHISIS 1, X-LINKED, JUVENILE",1820,4,"0.9726649304899302","disease of anatomical entity"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0","disease of anatomical entity"]
["C1861826","Cataract, Nuclear Total",1817,4,"1.0"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0"]
["C3805412","CATARACT 41",1817,4,"1.0","disease of anatomical entity"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","genetic disease"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959"]
["C3541471","MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",1809,4,"0.9878541601856959","disease of metabolism"]
["C0280962","Bone Marrow Suppression",1796,4,"1.0"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0","disease of metabolism"]
["C0948168","Bone marrow toxicity",1796,4,"1.0"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968","disease of anatomical entity"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968","disease of anatomical entity"]
["C1846148","Sketetal dysplasia coarse facies mental retardation",1788,4,"0.9741494579900968"]
["C3151753","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6",1788,4,"0.9244309229690109","disease of metabolism"]
["C0017574","Gingivitis",1748,4,"0.04739206181505732","disease of anatomical entity"]
["C0037856","Spermatic Cord Torsion",1748,4,"0.6181679809665507","disease of anatomical entity"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469","disease of anatomical entity"]
["C3809210","EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",1748,4,"0.43588492187803807","disease of anatomical entity"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0","disease of anatomical entity"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0","disease of anatomical entity"]
["C3149009","DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",1746,4,"1.0","disease of anatomical entity"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0"]
["C0271514","Low frequency deafness",1745,4,"0.347282503437948","disease of anatomical entity"]
["C0452138","Sensorineural hearing loss, bilateral",1745,4,"-0.20938443561920492","disease of anatomical entity"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353","disease of anatomical entity"]
["C4225261","SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",1745,4,"0.44422495207280704"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728"]
["C3551716","CORTISONE REDUCTASE DEFICIENCY 1",1729,4,"0.16236178820229905","disease of anatomical entity"]
["C3553382","CORTISONE REDUCTASE DEFICIENCY 2",1729,4,"0.5058751906815325","disease of anatomical entity"]
["C4329210","11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency",1729,4,"0.5058751906815325","disease of anatomical entity"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695","disease of anatomical entity"]
["C0262404","Cerebellar degeneration",1722,4,"0.7031135972786946"]
["C0740279","Cerebellar atrophy",1722,4,"0.7005062606470862"]
["C4020873","Infratentorial atrophy",1722,4,"0.6978889253026573"]
["C1840061","SMALL PATELLA SYNDROME",1717,4,"1.0"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0"]
["C3150607","CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME",1717,4,"1.0","genetic disease"]
["C3150880","CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME",1717,4,"1.0"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989","genetic disease"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488","genetic disease"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488","genetic disease"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488","genetic disease"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409","disease of metabolism"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856","disease of metabolism"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038","disease of metabolism"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856","disease of metabolism"]
["C1863998","Peroxisome Biogenesis Disorder, Complementation Group 9",1681,4,"0.9927955443639027"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419"]
["C3553959","PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)",1681,4,"0.9927955443639027"]
["C3553960","PEROXISOME BIOGENESIS DISORDER 8B",1681,4,"0.9927955443639027"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226","disease of metabolism"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226","syndrome"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","syndrome"]
["C4304537","2p21 microdeletion syndrome",1675,4,"0.45075156801676186"]
["C4479088","MYASTHENIC SYNDROME, CONGENITAL, 22",1675,4,"0.19642155432468647"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124","disease of metabolism"]
["C0268322","Chester-type porphyria",1673,4,"0.998639274498678"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678","disease of metabolism"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678","disease of metabolism"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031","disease of anatomical entity"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949","disease of anatomical entity"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931","disease of anatomical entity"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838","disease of anatomical entity"]
["C1853576","Diamond-Blackfan Anemia With Microtia And Cleft Palate",1662,4,"0.3801539584392106"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562","disease of anatomical entity"]
["C4225411","DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C4225422","DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957","disease of anatomical entity"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746","disease of anatomical entity"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174","disease of anatomical entity"]
["C3808977","CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4",1652,4,"0.513711257906384","disease of anatomical entity"]
["C3539168","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",1638,4,"0.9950495777552114"]
["C3553950","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",1638,4,"0.9983473780603996"]
["C3553951","PEROXISOME BIOGENESIS DISORDER 7B",1638,4,"0.9983473780603996"]
["C3888385","PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)",1638,4,"0.9983473780603996"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982","disease of anatomical entity"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673","disease of anatomical entity"]
["C4310710","PEELING SKIN SYNDROME 5",1634,4,"0.19567187405639985"]
["C0085661","Onycholysis",1633,4,"0.024481775884359718"]
["C1840299","Hypotrichosis Simplex of Scalp",1633,4,"0.3757649689346729","disease of anatomical entity"]
["C3151432","HYPOTRICHOSIS 3",1633,4,"0.5011821529645496","disease of anatomical entity"]
["C3554117","ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",1633,4,"0.5011821529645496"]
["C0038395","Streptococcal Infections",1632,4,"0.869913117644807"]
["C0477316","Other specified coagulation defects",1632,4,"0.9667125729033856","disease of anatomical entity"]
["C2752081","ALPHA-2-PLASMIN INHIBITOR DEFICIENCY",1632,4,"0.9667125729033856","disease of anatomical entity"]
["C3489734","Anti-plasmin deficiency, congenital",1632,4,"0.9667125729033856"]
["C0235927","Vestibulocerebellar ataxia",1631,4,"0.6508862232903943"]
["C1837007","DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207","disease of anatomical entity"]
["C3149566","DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C4015050","DEAFNESS, AUTOSOMAL RECESSIVE 103",1631,4,"0.2208888695984414","disease of anatomical entity"]
["C0454455","Mirror movements disorder",1630,4,"0.19435850177653452"]
["C3281089","MIRROR MOVEMENTS 2",1630,4,"0.40235211863948145"]
["C4284093","FANCONI ANEMIA, COMPLEMENTATION GROUP R",1630,4,"0.40235211863948145","disease of anatomical entity"]
["C4479640","GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2",1630,4,"0.02990250378864007"]
["C0342776","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency",1618,4,"0.25523039551124216"]
["C1838979","MITOCHONDRIAL COMPLEX I DEFICIENCY",1618,4,"0.6897253478517794","disease of metabolism"]
["C1855020","Acute necrotizing encephalopathy",1618,4,"0.583536851355696"]
["C2936907","NADH:Q(1) Oxidoreductase deficiency",1618,4,"0.6809300075488732"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577","syndrome"]
["C3280182","ADAMS-OLIVER SYNDROME 2",1612,4,"0.11945273048497816","syndrome"]
["C3809092","ADAMS-OLIVER SYNDROME 4",1612,4,"0.14968814822119603","syndrome"]
["C4225271","ADAMS-OLIVER SYNDROME 6",1612,4,"0.1448909977210813"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583"]
["C3807327","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",1607,4,"0.20439008138949824","disease of mental health"]
["C3808874","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",1607,4,"0.18234632393097386","disease of mental health"]
["C4225169","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",1607,4,"0.1608018100036085","disease of mental health"]
["C0270612","Leukoencephalopathies",1606,4,"0.1354334035343468"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693","disease of anatomical entity"]
["C1858991","Childhood Ataxia with Central Nervous System Hypomyelinization",1606,4,"0.6702942031271522","disease of anatomical entity"]
["C2960129","Vanishing white matter disease",1606,4,"0.5511014316085664"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985","genetic disease"]
["C2673883","RENAL-HEPATIC-PANCREATIC DYSPLASIA",1582,4,"0.5605354023863534"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294","genetic disease"]
["C3715199","RENAL-HEPATIC-PANCREATIC DYSPLASIA 1",1582,4,"0.8928033303679691","physical disorder"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833","disease of metabolism"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736","disease of metabolism"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736","disease of metabolism"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736","disease of metabolism"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","disease of metabolism"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378","disease of metabolism"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564","disease of metabolism"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601","disease of metabolism"]
["C0276096","Mastitis-metritis-agalactia syndrome",1556,4,"0.9271554973832203"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067","disease of metabolism"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636","disease of metabolism"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636","disease of metabolism"]
["C0271165","Punctate cataract",1542,4,"0.47328110646957205"]
["C1832175","Cataract, Congenital, Cerulean Type, 2",1542,4,"-0.10506018421842693","disease of anatomical entity"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205"]
["C4023734","Sutural cataract",1542,4,"0.0"]
["C0034067","Pulmonary Emphysema",1528,4,"0.8699255454217851"]
["C0221227","Centriacinar Emphysema",1528,4,"0.9580362960754452"]
["C0264393","Panacinar Emphysema",1528,4,"0.9590502617079391"]
["C2350878","Focal Emphysema",1528,4,"0.9580362960754452"]
["C0014799","Erythroderma, Maculopapular",1505,4,"0.9999999999999991","disease of anatomical entity"]
["C0030437","Parakeratosis Variegata",1505,4,"0.9999999999999991","disease of anatomical entity"]
["C0030491","Parapsoriasis",1505,4,"0.9999999999999991","disease of anatomical entity"]
["C0162442","Parapsoriasis en Plaques",1505,4,"0.9999999999999991","disease of anatomical entity"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257","disease of anatomical entity"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201","disease of anatomical entity"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853","disease of anatomical entity"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772","disease of anatomical entity"]
["C1261175","Pontoneocerebellar hypoplasia",1477,4,"0.3620903754809383"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126","disease of anatomical entity"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736","disease of anatomical entity"]
["C3553449","PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",1477,4,"0.1990711850354729","disease of anatomical entity"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114","disease of anatomical entity"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051","disease of anatomical entity"]
["C3150596","MONONEUROPATHY OF THE MEDIAN NERVE, MILD",1475,4,"0.4310433328408051"]
["C4082197","Charcot-Marie-Tooth disease type 4",1475,4,"0.554045516085599"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848","disease of anatomical entity"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872","disease of anatomical entity"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517","disease of anatomical entity"]
["C4020854","Neuro-degenerative disease",1464,4,"0.23052351604307295"]
["C0003851","Arteriosclerosis Obliterans",1452,4,"0.7908589129385872","disease of anatomical entity"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","disease of metabolism"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488"]
["C0157743","Vibratory urticaria",1448,4,"1.0","disease of anatomical entity"]
["C0473546","Vibratory angioedema",1448,4,"1.0"]
["C1852145","Familial dermographism",1448,4,"1.0","disease of anatomical entity"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0"]
["C3278481","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",1439,4,"0.12812216106623717","syndrome"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314"]
["C4015388","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",1439,4,"0.01222619684657216","syndrome"]
["C4225362","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",1439,4,"0.17655159511533985","syndrome"]
["C3150275","COMPLEMENT COMPONENT 2 DEFICIENCY",1438,4,"0.20347883136266592","disease of anatomical entity"]
["C3809653","MACULAR DEGENERATION, AGE-RELATED, 14",1438,4,"0.7300673201333486","disease of anatomical entity"]
["C3809654","MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF",1438,4,"0.7300673201333486"]
["C3809950","COMPLEMENT FACTOR B DEFICIENCY",1438,4,"0.13172921248628428"]
["C0795830","CHROMOSOME 9p DELETION SYNDROME",1428,4,"1.0","genetic disease"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0"]
["C0472792","Hemolytic anemia due to hexokinase deficiency",1426,4,"1.0"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0","disease of anatomical entity"]
["C3150343","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",1426,4,"1.0"]
["C4479526","RETINITIS PIGMENTOSA 79",1426,4,"1.0"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996","disease of metabolism"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996","disease of metabolism"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996","disease of metabolism"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996","disease of metabolism"]
["C0002886","Anemia, Macrocytic",1397,4,"0.3596136155223349","disease of anatomical entity"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268","disease of anatomical entity"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096","disease of anatomical entity"]
["C4021821","Abnormality of the urinary system",1397,4,"0.6598239688072091"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605","disease of anatomical entity"]
["C1260873","Aortic valve disorder",1387,4,"0.5755500314962895","disease of anatomical entity"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152","disease of anatomical entity"]
["C4014970","ADAMS-OLIVER SYNDROME 5",1387,4,"0.5428075822644881","syndrome"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011"]
["C0243010","Viral Encephalitis",1385,4,"0.8925961896938558","disease of anatomical entity"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558"]
["C0242423","Ramsay Hunt Paralysis Syndrome",1380,4,"0.847252628185406"]
["C0752097","Autosomal Dominant Juvenile Parkinson Disease",1380,4,"0.847252628185406"]
["C0752098","Autosomal Dominant Parkinsonism",1380,4,"0.6879675453470102"]
["C0752104","Familial Juvenile Parkinsonism",1380,4,"0.847252628185406"]
["C1846862","PARKINSON DISEASE 8 (disorder)",1377,4,"0.5166910906744966","disease of anatomical entity"]
["C3489791","Parkinson Disease, Familial, Type 1",1377,4,"0.2767184953457182"]
["C4274355","Autosomal dominant late onset Parkinson disease",1377,4,"0.2586934111035029"]
["C4511452","Sporadic Parkinson disease",1377,4,"0.4095633351858349"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063","disease of anatomical entity"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656","disease of anatomical entity"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656","disease of anatomical entity"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656","disease of anatomical entity"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891"]
["C2931320","T cell immunodeficiency primary",1371,4,"0.9912778369672891"]
["C4310768","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",1371,4,"0.9912778369672891"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","syndrome"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","disease of anatomical entity"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538","disease of anatomical entity"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538","disease of anatomical entity"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538","disease of anatomical entity"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375"]
["C0341706","Glycinuria",1356,4,"0.24134093454127567"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186","disease of metabolism"]
["C0311298","Propionic acidemia, type II",1354,4,"0.8538448295626059"]
["C1306587","Acute encephalopathy",1354,4,"0.5554581171325069"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059","disease of metabolism"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","genetic disease"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859"]
["C3281138","CHROMOSOME 17q12 DELETION SYNDROME",1350,4,"0.6331844510250144","genetic disease"]
["C1832244","CARDIOMYOPATHY, DILATED, 1C (disorder)",1348,4,"1.0","disease of anatomical entity"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0","disease of anatomical entity"]
["C3152137","LEFT VENTRICULAR NONCOMPACTION 3",1348,4,"1.0","disease of anatomical entity"]
["C4225414","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",1348,4,"1.0","disease of anatomical entity"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0","syndrome"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0","disease of anatomical entity"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0","genetic disease"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622","disease of anatomical entity"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","disease of anatomical entity"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622","disease of anatomical entity"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622","disease of anatomical entity"]
["C0002878","Anemia, Hemolytic",1319,4,"0.7722862154642667","disease of anatomical entity"]
["C0002879","Anemia, Hemolytic, Acquired",1319,4,"0.9263136988199357","disease of anatomical entity"]
["C0002889","Anemia, Microangiopathic",1319,4,"0.9247417218838393","disease of anatomical entity"]
["C0221021","Microangiopathic hemolytic anemia",1319,4,"0.9206458597140103","disease of anatomical entity"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337","genetic disease"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568","disease of mental health"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568","syndrome"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568","genetic disease"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748","genetic disease"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","genetic disease"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","disease of anatomical entity"]
["C0740896","Hypokalemic hypochloremic metabolic alkalosis",1304,4,"0.2844724550683174"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696"]
["C4310805","BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",1304,4,"0.5707009785019546","disease of anatomical entity"]
["C0014549","Tonic-Clonic Epilepsy",1299,4,"0.9694464538022375","disease of anatomical entity"]
["C0751117","Cryptogenic Tonic-Clonic Epilepsy",1299,4,"0.9897204555042906","disease of anatomical entity"]
["C0751118","Epilepsy, Tonic-Clonic, Familial",1299,4,"0.9897204555042906","disease of anatomical entity"]
["C0751119","Epilepsy, Tonic-Clonic, Symptomatic",1299,4,"0.9897204555042906","disease of anatomical entity"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0","genetic disease"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0","genetic disease"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0","genetic disease"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0","genetic disease"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","syndrome"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","genetic disease"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","disease of anatomical entity"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346","genetic disease"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334","genetic disease"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407","genetic disease"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098","syndrome"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161","physical disorder"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098","disease of anatomical entity"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098","disease of anatomical entity"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601"]
["C1861178","Thrombocytopenia Paris-Trousseau type",1276,4,"0.9959254730538218"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218"]
["C4479515","BLEEDING DISORDER, PLATELET-TYPE, 21",1276,4,"0.9959254730538218"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296","disease of anatomical entity"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272","disease of anatomical entity"]
["C1968845","Primary Lateral Sclerosis, Adult, 1",1273,4,"0.7604457615061272","disease of anatomical entity"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","disease of metabolism"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","syndrome"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","disease of anatomical entity"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838","disease of metabolism"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838","disease of anatomical entity"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838","disease of metabolism"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838","disease of anatomical entity"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132","disease of metabolism"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132","disease of anatomical entity"]
["C0406369","Lichen planus pemphigoides",1265,4,"0.9523254888813999"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999"]
["C4304724","Late-onset junctional epidermolysis bullosa",1265,4,"0.9523254888813999"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525"]
["C1847582","Lipodystrophy with Congenital Cataracts and Neurodegeneration",1258,4,"1.0"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0","disease of anatomical entity"]
["C3807567","PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME",1258,4,"1.0"]
["C3809192","PULMONARY HYPERTENSION, PRIMARY, 3",1258,4,"1.0","disease of anatomical entity"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442","genetic disease"]
["C3553264","JOUBERT SYNDROME 17",1233,4,"0.545036801201581","genetic disease"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255","genetic disease"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255","disease of anatomical entity"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","genetic disease"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","disease of anatomical entity"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385","disease of anatomical entity"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","genetic disease"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","genetic disease"]
["C1857821","LEBER CONGENITAL AMAUROSIS 10 (disorder)",1224,4,"0.9772479626927189","disease of anatomical entity"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","genetic disease"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149","genetic disease"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149","disease of anatomical entity"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383"]
["C4020790","Medullary sponge kidney disease",1222,4,"0.5796980971608529"]
["C4024644","Multiple small medullary renal cysts",1222,4,"0.5796980971608529"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631","disease of anatomical entity"]
["C3279722","MYOPATHY, DISTAL, 4",1218,4,"0.9968577079381988","disease of anatomical entity"]
["C4310748","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",1218,4,"0.9968577079381988","disease of anatomical entity"]
["C4310749","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",1218,4,"0.9968577079381988","disease of anatomical entity"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897","disease of anatomical entity"]
["C1862391","ASD I",1210,4,"0.9349126180414541","disease of anatomical entity"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541","disease of anatomical entity"]
["C1862393","ASD II",1210,4,"0.9349126180414541","disease of anatomical entity"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739","disease of anatomical entity"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523","disease of anatomical entity"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683","disease of anatomical entity"]
["C3250443","MYOTONIC DYSTROPHY 1",1208,4,"0.49368672418271026","disease of anatomical entity"]
["C0596131","audiogenic seizure",1193,4,"0.7869541890541861"]
["C1401084","Ovarian Insufficiency",1193,4,"0.5846286681209663"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563","disease of anatomical entity"]
["C3275521","CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME",1193,4,"0.7869541890541861"]
["C0040963","Tricuspid Valve Stenosis",1192,4,"0.6368290335248984","disease of anatomical entity"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853","disease of anatomical entity"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853"]
["C3278147","GELEOPHYSIC DYSPLASIA 1",1192,4,"0.03254268110472885"]
["C0015708","Fazio-Londe Syndrome",1187,4,"0.8789814120223987","disease of anatomical entity"]
["C0030442","Progressive bulbar palsy",1187,4,"0.8789814120223987","disease of anatomical entity"]
["C0393540","Childhood Progressive Bulbar Palsy",1187,4,"0.8789814120223987","disease of anatomical entity"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077","genetic disease"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","disease of anatomical entity"]
["C0432470","46, XY female",1178,4,"0.6651249785936851"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071","disease of anatomical entity"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071","disease of anatomical entity"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","disease of metabolism"]
["C0342841","Hunter\\'s syndrome, severe form",1176,4,"0.9998335879055861"]
["C0342842","Hunter\\'s syndrome, mild form",1176,4,"0.9998335879055861"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861","disease of metabolism"]
["C1860752","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",1160,4,"0.9892816288917842","disease of anatomical entity"]
["C1861861","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)",1160,4,"0.9683061203126658","disease of anatomical entity"]
["C2678474","CARDIOMYOPATHY, DILATED, 2A (disorder)",1160,4,"0.9892816288917842","disease of anatomical entity"]
["C2750091","Cardiomyopathy, Dilated, 1FF",1160,4,"0.9892816288917842","disease of anatomical entity"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209","genetic disease"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209","disease of anatomical entity"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431","disease of anatomical entity"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209"]
["C0034362","Q Fever",1152,4,"0.9999999999999998","disease by infectious agent"]
["C0519066","Acute Q fever",1152,4,"0.9999999999999998","disease by infectious agent"]
["C1443892","Chronic Q Fever",1152,4,"0.9999999999999998","disease by infectious agent"]
["C2973787","Coxiella burnetii Infection",1152,4,"0.9999999999999998","disease by infectious agent"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468","disease of anatomical entity"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468","disease of anatomical entity"]
["C2827469","Coronary Microvascular Disease",1150,4,"0.71346407156482"]
["C0342782","Depletion of mitochondrial DNA",1142,4,"0.5537493321779642"]
["C3149750","MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)",1142,4,"0.897339513924786","disease of metabolism"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786"]
["C4310734","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",1142,4,"0.897339513924786"]
["C0003756","Arenaviridae Infections",1141,4,"1.0"]
["C0205671","Infections, Arenavirus",1141,4,"1.0"]
["C3714509","Nutrition Disorders",1141,4,"1.0","disease of metabolism"]
["C4225219","IMMUNODEFICIENCY 46",1141,4,"1.0"]
["C0007193","Cardiomyopathy, Dilated",1138,4,"0.5573060417302593","disease of anatomical entity"]
["C0264886","Conduction disorder of the heart",1138,4,"0.3898556667639416"]
["C0340427","Familial dilated cardiomyopathy",1138,4,"0.36060005547372864","disease of anatomical entity"]
["C1449563","Cardiomyopathy, Familial Idiopathic",1138,4,"0.0031474371698796706","disease of anatomical entity"]
["C0030328","Panniculitis, Nodular Nonsuppurative",1137,4,"0.9099145068384988","disease of anatomical entity"]
["C0039841","Thiamine Deficiency",1137,4,"0.7563350547642427","disease of metabolism"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","disease of metabolism"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525","disease of anatomical entity"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","syndrome"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","syndrome"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","syndrome"]
["C0022578","Keratoconus",1121,4,"0.1752792905172218","disease of anatomical entity"]
["C0028077","Night Blindness",1121,4,"0.06556981725310781","disease of anatomical entity"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577","disease of anatomical entity"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101"]
["C0339527","Leber Congenital Amaurosis",1120,4,"0.614613666104317","disease of anatomical entity"]
["C0375206","Hemiplegia/hemiparesis",1120,4,"0.28613392330803156"]
["C1301509","Severe visual impairment",1120,4,"0.5081365186465451"]
["C3540662","Congenital Amaurosis of Retinal Origin",1120,4,"0.35544780678837085","disease of anatomical entity"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757"]
["C0852654","21-hydroxylase deficiency",1119,4,"0.6383699403167985"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757","disease of metabolism"]
["C4273964","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1119,4,"0.8788701999033757"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795","physical disorder"]
["C3711390","9q22.3 Microdeletion",1114,4,"0.9795969719383795"]
["C0155285","Orbital cyst",1113,4,"0.318931892986822","disease of anatomical entity"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822"]
["C4540342","JOUBERT SYNDROME 32",1113,4,"0.20405210589652178"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0","disease of anatomical entity"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0"]
["C3151202","LEBER CONGENITAL AMAUROSIS 8",1093,4,"1.0","disease of anatomical entity"]
["C4072868","Paravenous chorioretinal atrophy",1093,4,"1.0"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617","disease of anatomical entity"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096","disease of anatomical entity"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208","disease of anatomical entity"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975","disease of anatomical entity"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975","disease of anatomical entity"]
["C4305155","Isolated autosomal dominant hypomagnesemia Glaudemans type",1083,4,"0.99792108950975"]
["C3149378","IMMUNODEFICIENCY, COMMON VARIABLE, 1",1071,4,"0.3055805201478008","disease of anatomical entity"]
["C3277428","Severe viral infections",1071,4,"0.4669578382140786"]
["C3809991","IMMUNODEFICIENCY, COMMON VARIABLE, 10",1071,4,"0.3055805201478008","disease of anatomical entity"]
["C4014617","IMMUNODEFICIENCY 24",1071,4,"0.17048051471309186"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858","disease of anatomical entity"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413","disease of anatomical entity"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988","disease of anatomical entity"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178","disease of anatomical entity"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879","disease of metabolism"]
["C4225365","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",1061,4,"0.9551660346730506","genetic disease"]
["C4274081","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1061,4,"0.9551660346730506"]
["C4303593","DEND syndrome",1061,4,"0.9551660346730506"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","disease of metabolism"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","disease of anatomical entity"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133","disease of metabolism"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223","disease of metabolism"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654","disease of metabolism"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472","disease of anatomical entity"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561","disease of anatomical entity"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561","disease of anatomical entity"]
["C4025285","Microspherocytosis",1049,4,"0.9101178765476561"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512"]
["C0391957","idiopathic epilepsy",1037,4,"0.11579113947359684"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972","disease of anatomical entity"]
["C1842564","Temporal epilepsy, familial",1037,4,"0.7776603817177512","disease of anatomical entity"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969"]
["C3277723","JOUBERT SYNDROME 12",1022,4,"0.946143372501969","syndrome"]
["C3279899","Hydrolethalus Syndrome 2",1022,4,"0.946143372501969","genetic disease"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065","syndrome"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065","genetic disease"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233","disease of anatomical entity"]
["C1866339","Preaxial Hallucal Polydactyly",1020,4,"-0.08921202085428967"]
["C3554247","CARPENTER SYNDROME 2",1020,4,"0.4232457986339482","disease of anatomical entity"]
["C4020889","Cornela disease",1020,4,"0.07721152036680853"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384"]
["C3266101","22q11 partial monosomy syndrome",1013,4,"0.8701801956520172"]
["C4024912","Occipital myelomeningocele",1013,4,"0.8693693476693937"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774","disease of anatomical entity"]
["C0035333","Retinitis",1003,4,"0.7450760583596704","disease of anatomical entity"]
["C0154874","Neuroretinitis",1003,4,"0.9052517448587774","disease of anatomical entity"]
["C3203733","Precordial Catch Syndrome",1003,4,"0.9052517448587774"]
["C0343239","Benign congenital hypotonia",994,4,"0.4019925104659892"]
["C1655035","congenital muscle disorder",994,4,"0.4019925104659892"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167","physical disorder"]
["C0795878","Monosomy 22",986,4,"0.9157211381818925"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","disease of cellular proliferation"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","disease of anatomical entity"]
["C2985524","Rhabdoid Tumor Predisposition Syndrome",986,4,"0.9157211381818925"]
["C3553248","MENTAL RETARDATION, AUTOSOMAL DOMINANT 15",986,4,"0.4769118408704372","disease of mental health"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841","disease of mental health"]
["C3277090","CHROMOSOME 2q23.1 DELETION SYNDROME",983,4,"0.7779578635877981"]
["C3553247","MENTAL RETARDATION, AUTOSOMAL DOMINANT 14",983,4,"-0.06539317343845784","disease of mental health"]
["C4304532","2q23.1 microdeletion syndrome",983,4,"0.710787630067661"]
["C1854023","Spinal muscular atrophy, Jerash type",965,4,"0.3467724488146202","disease of anatomical entity"]
["C3280587","AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",965,4,"0.1331586705851838","disease of anatomical entity"]
["C3711384","Distal Hereditary Motor Neuropathy, Type II",965,4,"-0.1818813881409131"]
["C3888271","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID",965,4,"0.2966258170086335"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0"]
["C1853578","Neuroferritinopathy",961,4,"1.0","disease of anatomical entity"]
["C3810090","L-FERRITIN DEFICIENCY",961,4,"1.0"]
["C4024952","Cavitation of the basal ganglia",961,4,"1.0"]
["C0234517","Anarthria speech disorder",960,4,"0.08043819918468745"]
["C1853396","Primary lateral sclerosis juvenile",960,4,"0.753905345597191"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173","disease of anatomical entity"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612","disease of metabolism"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445","disease of metabolism"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671"]
["C0338902","Writer\\'s cramp neurosis",949,4,"0.8441872370991478"]
["C1851945","DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",949,4,"0.9503061918558788","disease of anatomical entity"]
["C1969807","Dystonia, Focal, Task-Specific",949,4,"0.9509677233862748"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566","disease of anatomical entity"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045","disease of anatomical entity"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444","disease of anatomical entity"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141","disease of anatomical entity"]
["C0398762","Properdin deficiency disease",942,4,"1.0"]
["C1839454","PROPERDIN DEFICIENCY, X-LINKED",942,4,"1.0"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536","genetic disease"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915","genetic disease"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029"]
["C4014780","OROFACIODIGITAL SYNDROME XIV",938,4,"0.5251645199190038"]
["C0008313","Cholangitis, Sclerosing",923,4,"0.22838409719731467","disease of anatomical entity"]
["C0038013","Ankylosing spondylitis",923,4,"-0.12575006794417226","disease of anatomical entity"]
["C0566602","Primary sclerosing cholangitis",923,4,"-0.12001639727158234","disease of anatomical entity"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","syndrome"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","genetic disease"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","disease of anatomical entity"]
["C1844569","Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder",918,4,"0.9575445344660868"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868","genetic disease"]
["C3275558","MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",918,4,"0.9575445344660868"]
["C1300267","Brachydactyly syndrome type B",913,4,"0.9376849361290489"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834","syndrome"]
["C3151609","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",913,4,"0.9621021108222909","syndrome"]
["C3151610","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",913,4,"0.9621021108222909","syndrome"]
["C3714995","CARDIOMYOPATHY, DILATED, 1KK",908,4,"1.0","disease of anatomical entity"]
["C3714998","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",908,4,"1.0","disease of anatomical entity"]
["C3808963","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",908,4,"1.0","disease of anatomical entity"]
["C4479186","NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE",908,4,"1.0","disease of anatomical entity"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121","disease of anatomical entity"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736","disease of anatomical entity"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297","disease of anatomical entity"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467","genetic disease"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467","disease of anatomical entity"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396","disease of anatomical entity"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433","disease of anatomical entity"]
["C1302790","Congenital malformation syndrome",892,4,"0.48092873988055274"]
["C2675862","Pyloric Stenosis, Infantile Hypertrophic, 5",892,4,"0.7699820102594364","disease of anatomical entity"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364"]
["C1563696","DNA Repair-Deficiency Disorders",885,4,"0.9621712857806799"]
["C1563697","Chromosome Instability Syndromes",885,4,"0.9621712857806799"]
["C3150667","MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",885,4,"0.8679791396861877","disease of anatomical entity"]
["C4225397","ATAXIA-OCULOMOTOR APRAXIA 4",885,4,"0.9621712857806799"]
["C0270724","Infantile Neuroaxonal Dystrophy",874,4,"0.8493486536305945","disease of anatomical entity"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714","disease of anatomical entity"]
["C2750220","Karak Syndrome",874,4,"0.9665095510784714","disease of anatomical entity"]
["C2751842","PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",874,4,"0.9665095510784714","disease of anatomical entity"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","genetic disease"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523"]
["C3152102","USH1D/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806","genetic disease"]
["C3275872","USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806","genetic disease"]
["C0338473","Neuroaxonal Dystrophies",850,4,"0.9763121476503032","disease of anatomical entity"]
["C0751716","Adult Neuroaxonal Dystrophy",850,4,"0.9925714371010504","disease of anatomical entity"]
["C0751717","Juvenile Neuroaxonal Dystrophy",850,4,"0.9925714371010504","disease of anatomical entity"]
["C0751718","Late Infantile Neuroaxonal Dystrophy",850,4,"0.9925714371010504","disease of anatomical entity"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447","disease of anatomical entity"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519","disease of anatomical entity"]
["C3150732","LYMPHEDEMA, HEREDITARY, IC",828,4,"0.9689434860194519"]
["C4274084","Pelizaeus Merzbacher like disease",828,4,"0.8988264701320258"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929","disease of metabolism"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846","disease of metabolism"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846","disease of metabolism"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146","disease of metabolism"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481","disease of metabolism"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481","disease of anatomical entity"]
["C0028817","Ochronosis",815,4,"0.9998949928170674","disease of metabolism"]
["C0028817","Ochronosis",815,4,"0.9998949928170674","disease of anatomical entity"]
["C0410607","Intervertebral disk calcification",815,4,"0.9998949928170674"]
["C2931645","Ochronosis, hereditary",815,4,"0.9998949928170674"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405","disease of anatomical entity"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219","disease by infectious agent"]
["C0026916","Mycobacterium avium-intracellulare Infection",809,4,"0.874268558118369","disease by infectious agent"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369","disease of anatomical entity"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369","disease of anatomical entity"]
["C0152205","Alternating esotropia",778,4,"0.6668195784166747","disease of anatomical entity"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791","genetic disease"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091","disease of metabolism"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791"]
["C0154141","Thyrotoxicosis with toxic single thyroid nodule",777,4,"0.7790903844121302","disease of anatomical entity"]
["C0154143","Toxic multinodular goiter",777,4,"0.761212308025839","disease of anatomical entity"]
["C0268446","Thyrotoxic periodic paralysis",777,4,"0.7634430126158891"]
["C4021553","Periodic hypokalemic paresis",777,4,"0.16836888503759684"]
["C0340486","Induced ventricular tachycardia",763,4,"0.9689497285955772"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772","disease of anatomical entity"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772"]
["C4053736","Catecholaminergic Polymorphic Ventricular Tachycardia Type 1",763,4,"0.8604421250736728"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183","disease of anatomical entity"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619","disease of anatomical entity"]
["C3279093","LONG QT SYNDROME 2/9, DIGENIC",760,4,"0.7046718288484356","disease of anatomical entity"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648","disease of anatomical entity"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777","disease of anatomical entity"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906","disease of anatomical entity"]
["C3277700","LONG QT SYNDROME 1/2, DIGENIC (disorder)",759,4,"0.5600704718799824","disease of anatomical entity"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687","disease of metabolism"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687","disease of anatomical entity"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","disease of metabolism"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","disease of anatomical entity"]
["C1096660","Ehlers-Danlos syndrome type IX",757,4,"0.9584766650423687"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687"]
["C0023510","Leukocyte Disorders",754,4,"0.8708959682898822","disease of anatomical entity"]
["C0242597","Leukocyte-Adhesion Deficiency Syndrome",754,4,"0.8708959682898822","genetic disease"]
["C0272187","Congenital leukocyte adherence deficiency",754,4,"0.5926966934749797","genetic disease"]
["C0398738","Leukocyte adhesion deficiency type 1",754,4,"0.8923126575533546","genetic disease"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","disease of anatomical entity"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408","disease of metabolism"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962","disease of metabolism"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324"]
["C0031046","Pericarditis",737,4,"0.7652398869788269","disease of anatomical entity"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893","disease of anatomical entity"]
["C1167732","Pleuropericarditis",737,4,"0.948447210824893","disease of anatomical entity"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893","genetic disease"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251","disease of anatomical entity"]
["C3888088","SMITH-MCCORT DYSPLASIA 1",725,4,"0.9702319108165626","disease of anatomical entity"]
["C0006664","Calcinosis cutis",716,4,"0.9950932510684533"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566","genetic disease"]
["C0748397","Reynolds syndrome",716,4,"0.9950932510684533"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533"]
["C0151747","Renal tubular disorder",714,4,"0.6564438927056846"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803","disease of metabolism"]
["C0268709","Renal tubular defect",714,4,"0.6568289259015833"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522","disease of anatomical entity"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","disease of anatomical entity"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","disease of metabolism"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","disease of anatomical entity"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","disease of metabolism"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","disease of anatomical entity"]
["C3150674","CHROMOSOME 15q24 DELETION SYNDROME",708,4,"0.8389773239052534"]
["C3150675","CHROMOSOME 15q24 DUPLICATION SYNDROME",708,4,"0.8389773239052534"]
["C4025697","Gastrointestinal atresia",708,4,"0.5941201036686057"]
["C4310804","WITTEVEEN-KOLK SYNDROME",708,4,"0.8389773239052534","genetic disease"]
["C0263580","Ichthyosis hystrix",696,4,"0.8742152361227875"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219","disease of anatomical entity"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414","disease of anatomical entity"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887","disease of anatomical entity"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344","disease of anatomical entity"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127","disease of anatomical entity"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107","disease of anatomical entity"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","syndrome"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","genetic disease"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256","syndrome"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","disease of anatomical entity"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682"]
["C4011726","MYOPATHY, TUBULAR AGGREGATE, 1",681,4,"0.587886115917754","disease of anatomical entity"]
["C4015624","MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",681,4,"0.19107546263873001"]
["C0013369","Dysentery",674,4,"0.5565012010686669","disease of anatomical entity"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","disease of metabolism"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862","disease of metabolism"]
["C1857231","LACTASE PERSISTENCE",674,4,"0.44101976176582613","disease of metabolism"]
["C0014057","Japanese Encephalitis",670,4,"0.12529101004639417","disease by infectious agent"]
["C0037354","Smallpox",670,4,"0.25178701965340117","disease by infectious agent"]
["C0037354","Smallpox",670,4,"0.25178701965340117","disease of anatomical entity"]
["C0043395","Yellow Fever",670,4,"0.2715412910380418","disease by infectious agent"]
["C1096184","West Nile viral infection",670,4,"0.14120861033824855","disease by infectious agent"]
["C0155118","Corneal degeneration",668,4,"0.8857334165912198","disease of anatomical entity"]
["C0271288","Corneal guttata",668,4,"0.12529869842568003"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198","disease of anatomical entity"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198","disease of anatomical entity"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","disease of anatomical entity"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725","disease of anatomical entity"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874","disease of mental health"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853","disease of anatomical entity"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397"]
["C0542037","Hypotriglyceridemia",660,4,"0.49505692326805123"]
["C3149462","HYPERALPHALIPOPROTEINEMIA 1",660,4,"-0.10585370600871524"]
["C3151467","Apolipoprotein C-III Deficiency",660,4,"0.22375473325642664"]
["C0406810","Carney Complex",656,4,"0.966104924710435","genetic disease"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422","genetic disease"]
["C1864846","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)",656,4,"0.9882890821196422","disease of anatomical entity"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328","genetic disease"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766"]
["C0030591","Paroxysmal ventricular tachycardia",646,4,"0.6412214985130897"]
["C1832600","Naxos disease",646,4,"0.4094582303008028"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523","disease of anatomical entity"]
["C2677105","Inflammatory Bowel Disease 12",646,4,"-0.02988571523685779","disease of anatomical entity"]
["C0025306","Meningococcemia",643,4,"0.2591458046500854"]
["C0877430","Asthma chronic",643,4,"0.704724009687437"]
["C1096458","Vascular occlusion",643,4,"0.704724009687437"]
["C2750067","Plasminogen Activator Inhibitor-1 Deficiency",643,4,"0.704724009687437"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064","genetic disease"]
["C0272322","Severe hereditary factor VIII deficiency disease",640,4,"0.8052338115339882"]
["C0272324","Mild hereditary factor VIII deficiency disease",640,4,"0.8046019085659679"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527","disease of anatomical entity"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","disease of anatomical entity"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239"]
["C3887709","Optic Neuropathy",637,4,"0.3628349824329477","disease of anatomical entity"]
["C0014173","Endometrial Hyperplasia",631,4,"0.9747354035273748"]
["C0349578","Complex Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0349579","Atypical Endometrial Hyperplasia",631,4,"0.9911635507461023"]
["C0456483","Simple Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703","disease of anatomical entity"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243","disease of anatomical entity"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487","disease of anatomical entity"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","syndrome"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962","disease of anatomical entity"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764","disease of mental health"]
["C3150988","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",593,4,"-0.1953277045552747","disease of anatomical entity"]
["C3554316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15",593,4,"0.20570769240111966","disease of anatomical entity"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031","disease of anatomical entity"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031"]
["C3553830","AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",585,4,"0.1924090306536971","disease of anatomical entity"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824"]
["C1855432","Mandibulofacial Dysostosis with Mental Deficiency",575,4,"1.0"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0","disease of anatomical entity"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0","disease of anatomical entity"]
["C3495438","Macular Degeneration, Age-Related, 2",575,4,"1.0","disease of anatomical entity"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441","disease of anatomical entity"]
["C0242225","Color blindness",566,4,"0.9950754269291268","disease of anatomical entity"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441","disease of anatomical entity"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441","disease of anatomical entity"]
["C0019625","Sinus histiocytosis",564,4,"1.0"]
["C0235592","Cervical lymphadenopathy",564,4,"1.0"]
["C0432262","Dysosteosclerosis",564,4,"1.0"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0"]
["C0432347","Uncombable hair syndrome",548,4,"0.8035445441555604"]
["C4020850","Generalized trichodysplasia",548,4,"0.8792453047085022"]
["C4025700","Trichodysplasia",548,4,"0.8792453047085022"]
["C4310649","UNCOMBABLE HAIR SYNDROME 2",548,4,"0.6533279180232886"]
["C3150733","LONG QT SYNDROME 13",547,4,"1.0","disease of anatomical entity"]
["C3150933","HYPERALDOSTERONISM, FAMILIAL, TYPE III",547,4,"1.0","disease of anatomical entity"]
["C4020742","Familial primary hyperaldosteronism type 2",547,4,"1.0"]
["C4023208","Glucocortocoid-insensitive primary hyperaldosteronism",547,4,"1.0"]
["C0040412","Fissured tongue",541,4,"0.38932353203088294","disease of anatomical entity"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794"]
["C3272802","Hamartomatous polyposis",541,4,"0.49314407207659977"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314"]
["C1708353","Hereditary Paraganglioma-Pheochromocytoma Syndrome",540,4,"0.10474032977052136"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165"]
["C1858592","Carney Triad",540,4,"0.24373366452987683"]
["C4025693","Hypertension associated with pheochromocytoma",540,4,"0.535271664386681"]
["C3150412","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3",513,4,"0.6020080495063018","disease of anatomical entity"]
["C3150417","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",513,4,"0.8973661853444033","disease of anatomical entity"]
["C3151519","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",513,4,"0.8472780013808121","disease of anatomical entity"]
["C4310704","RETINITIS PIGMENTOSA 76",513,4,"0.8973661853444033"]
["C0268354","De Barsy syndrome",498,4,"1.0","disease of anatomical entity"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0","disease of anatomical entity"]
["C4225268","CUTIS LAXA, AUTOSOMAL DOMINANT 3",498,4,"1.0"]
["C4225272","SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",498,4,"1.0","disease of anatomical entity"]
["C0002949","Aneurysm, Dissecting",495,4,"0.4190083652153722"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864","genetic disease"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011","genetic disease"]
["C2697933","Loeys-Dietz Syndrome Type 1",495,4,"0.3284215457493587"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514","disease of anatomical entity"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684","disease of anatomical entity"]
["C4022878","Descending aortic dissection",494,4,"0.4382772547496848"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","disease of mental health"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","genetic disease"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","disease of mental health"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","genetic disease"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","disease of mental health"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","genetic disease"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","disease of mental health"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","genetic disease"]
["C0029118","Opportunistic Infections",487,4,"0.44372825067254085"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885"]
["C0270246","Meconium plug syndrome",484,4,"0.8684151328108605"]
["C0398349","Distal intestinal obstruction syndrome",484,4,"-0.05192123239712883"]
["C2939175","Meconium ileus",484,4,"0.8993817382526215"]
["C3553270","DIARRHEA 6",484,4,"0.8684151328108605","disease of anatomical entity"]
["C0267937","Acute recurrent pancreatitis",481,4,"0.6551856257743953","disease of anatomical entity"]
["C0341471","Idiopathic chronic pancreatitis",481,4,"0.6557646647913911"]
["C0747198","pancreatitis idiopathic",481,4,"0.24422481763496753"]
["C2609129","Autoimmune pancreatitis",481,4,"0.4201820765467514"]
["C0341862","Hypothalamic amenorrhea",479,4,"1.0"]
["C3554224","LEPTIN DEFICIENCY OR DYSFUNCTION",479,4,"1.0"]
["C3824872","Obesity in animals",479,4,"1.0"]
["C3838754","Congenital leptin deficiency",479,4,"1.0"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0","disease of anatomical entity"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0"]
["C1859069","Brittle Bone Disorder",461,4,"1.0"]
["C4303786","Ehlers-Danlos syndrome vascular-like type",461,4,"1.0"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036","disease of anatomical entity"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784"]
["C3840085","Disorder of Achilles tendon",457,4,"0.39971956502070516"]
["C4225429","Ehlers-Danlos syndrome classic type",457,4,"0.42484294501622777","disease of anatomical entity"]
["C1837187","MACULAR DEGENERATION, AGE-RELATED, 3",453,4,"0.9332428068483192"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192","disease of anatomical entity"]
["C4225406","NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION",453,4,"0.9332428068483192"]
["C0014836","Escherichia coli Infections",436,4,"0.42148715921281665"]
["C1096063","Drug Resistant Epilepsy",436,4,"0.5351995344085753"]
["C1861502","COLCHICINE RESISTANCE",436,4,"0.7518401423529796"]
["C2677101","Inflammatory Bowel Disease 13",436,4,"0.7518401423529796","disease of anatomical entity"]
["C0019114","Hemosiderosis",428,4,"0.886579780043549","disease of metabolism"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549","disease of metabolism"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283","disease of metabolism"]
["C3469186","HEMOCHROMATOSIS, TYPE 1",428,4,"0.5059919153578046","disease of metabolism"]
["C0029421","Osteochondritis Dissecans",425,4,"0.6118752508401556","disease of anatomical entity"]
["C0038012","Spondylitis",425,4,"0.8730318364465777","disease of anatomical entity"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777"]
["C3665488","Familial Osteochondritis Dissecans",425,4,"0.8730318364465777","disease of anatomical entity"]
["C0750145","Occlusive vascular disease",416,4,"0.9870622703220427"]
["C1306889","Peripheral arterial occlusive disease",416,4,"0.9956471897164249"]
["C4025272","Peripheral arterial stenosis",416,4,"0.9956471897164249"]
["C4531019","Arterial disease of legs",416,4,"0.9956471897164249"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915","disease of anatomical entity"]
["C3278482","DESBUQUOIS DYSPLASIA, KIM VARIANT",411,4,"0.5918089323106626"]
["C4012146","DESBUQUOIS DYSPLASIA 1",411,4,"0.5918089323106626","disease of anatomical entity"]
["C4014294","DESBUQUOIS DYSPLASIA 2",411,4,"-0.29884429387514977","disease of anatomical entity"]
["C0021100","Bullous impetigo",398,4,"0.6195026896156528"]
["C1838099","ABCD syndrome",398,4,"0.6195026896156528","genetic disease"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962","genetic disease"]
["C3266898","Waardenburg Syndrome",398,4,"-0.15530663933950462","genetic disease"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156","disease of anatomical entity"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535","disease of anatomical entity"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","disease of anatomical entity"]
["C3809781","Cole disease",391,4,"0.8578268889014156"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0","disease of anatomical entity"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0","disease of anatomical entity"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678","disease of anatomical entity"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798"]
["C4225369","MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",353,4,"0.9667328529971798","disease of anatomical entity"]
["C4225413","MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",353,4,"0.9667328529971798","disease of anatomical entity"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364","disease of anatomical entity"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244","disease of anatomical entity"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566","disease of anatomical entity"]
["C3665333","Keratitis-Ichthyosis-Deafness Syndrome",349,4,"0.7237192186662726"]
["C4011788","Behavioral variant of frontotemporal dementia",347,4,"0.7960292379557252"]
["C4021584","Frontotemporal cerebral atrophy",347,4,"0.7000467182622997"]
["C4024936","Temporal cortical atrophy",347,4,"0.7287840688620689"]
["C4024956","Grammar-specific speech disorder",347,4,"0.7900381285986946"]
["C0270920","Supranuclear paralysis",346,4,"0.7816267884283268"]
["C0338460","Argyrophilic grain disease",346,4,"0.5149372574107562"]
["C0393570","Corticobasal degeneration",346,4,"0.7499873031211506"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268"]
["C0477548","Other chondrocalcinosis",337,4,"0.6929768292601719","disease of metabolism"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736","disease of metabolism"]
["C2931105","Hypercalciuria, childhood idiopathic",337,4,"0.2494154124977662"]
["C0038833","Superior Vena Cava Syndrome",333,4,"1.0"]
["C0038834","Superior Vena Cava Thrombosis",333,4,"1.0"]
["C0267941","Pancreatitis, Acute Necrotizing",333,4,"1.0"]
["C3150644","BRACHYDACTYLY, TYPE E2",333,4,"1.0","disease of anatomical entity"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584"]
["C0205858","General Paralysis",316,4,"0.4336675050527473","disease by infectious agent"]
["C3280415","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",316,4,"0.7149075838121606"]
["C3281191","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13",316,4,"0.6351962755291004","disease of anatomical entity"]
["C4310728","SEIZURES, BENIGN FAMILIAL INFANTILE, 5",316,4,"0.7149075838121606"]
["C0014804","Erythromelalgia",295,4,"0.9798909948940998","disease of anatomical entity"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998"]
["C3178789","Widespread Chronic Pain",295,4,"0.9681508168503132"]
["C3276706","Small Fiber Neuropathy",295,4,"0.953713000278888"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","genetic disease"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","disease of anatomical entity"]
["C0268800","Simple renal cyst",287,4,"0.27754182989834264"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113","genetic disease"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113","disease of anatomical entity"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922","genetic disease"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922","disease of anatomical entity"]
["C0010709","Cyst",286,4,"0.314153182593162"]
["C0334054","cystic disease",286,4,"0.43401777605374775"]
["C1868148","Potter Type III Polycystic Kidney Disease",286,4,"0.7202711540267214"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166","genetic disease"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166","disease of anatomical entity"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","genetic disease"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899","genetic disease"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875"]
["C3151568","NEPHROTIC SYNDROME, TYPE 4",278,4,"0.9969524000045875","disease of anatomical entity"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482","genetic disease"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937","genetic disease"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457","genetic disease"]
["C3150099","ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS",269,4,"0.2511528835159662","genetic disease"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551","disease of anatomical entity"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857"]
["C4479387","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",262,4,"0.6186581197395332"]
["C4479409","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",262,4,"0.6186581197395332"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187","genetic disease"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789","disease of metabolism"]
["C4303475","Hyperinsulinism due to HNF1A deficiency",261,4,"0.997160994457789"]
["C0586358","Biliary Intraepithelial Neoplasia",259,4,"0.859722580419669"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176","syndrome"]
["C3809005","CARDIOFACIOCUTANEOUS SYNDROME 2",259,4,"0.7421456764536136","syndrome"]
["C0268124","Adenosine deaminase deficiency",243,4,"0.9961400504485656","disease of anatomical entity"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779","disease of anatomical entity"]
["C1863236","SCID Due to ADA Deficiency, Early-Onset",243,4,"0.9948941602845729","disease of anatomical entity"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729","disease of anatomical entity"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816","disease of anatomical entity"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","disease of anatomical entity"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929","disease of anatomical entity"]
["C0085702","Monocytosis",211,4,"0.12792032357732802"]
["C0272183","Qualitative abnormality of granulocyte",211,4,"0.7687172741289907"]
["C2675526","Neutropenia, Severe Congenital, Autosomal Recessive 4",211,4,"0.7926872639946244","disease of anatomical entity"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147","disease of anatomical entity"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135","disease of anatomical entity"]
["C0221023","Cyclic neutropenia",210,4,"0.8717659801155617","disease of anatomical entity"]
["C1859966","Neutropenia, Severe Congenital, Autosomal Dominant 1",210,4,"0.4452213445746989","disease of anatomical entity"]
["C3671688","Cyclic Hematopoesis",210,4,"0.8786183589438135","disease of anatomical entity"]
["C3151513","MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)",208,4,"0.7887256405736275","disease of metabolism"]
["C3711385","Deoxyguanosine Kinase Deficiency",208,4,"0.202928994485112"]
["C4310733","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",208,4,"0.8277342624068593"]
["C4310735","PORTAL HYPERTENSION, NONCIRRHOTIC",208,4,"0.8277342624068593"]
["C0024291","Lymphohistiocytosis, Hemophagocytic",198,4,"0.35312140083346233","disease of anatomical entity"]
["C0398794","Hypopigmentation-immunodeficiency disease",198,4,"0.3739540744581038"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","genetic disease"]
["C3887558","Hemophagocytic Syndrome",198,4,"0.6268040040887832","disease of anatomical entity"]
["C0451720","Nephrotic syndrome, focal and segmental glomerular lesions",194,4,"1.0","disease of anatomical entity"]
["C2902887","Nephrotic syndrome with focal and segmental hyalinosis",194,4,"1.0","disease of anatomical entity"]
["C2902888","Nephrotic syndrome with focal and segmental sclerosis",194,4,"1.0","disease of anatomical entity"]
["C2902889","Nephrotic syndrome with focal glomerulonephritis",194,4,"1.0","disease of anatomical entity"]
["C0085278","Antiphospholipid Syndrome",189,4,"0.6552586323302864","disease of anatomical entity"]
["C1395512","Placental dysfunction",189,4,"0.856543739091351"]
["C1836302","Carotid Intimal Medial Thickness 1",189,4,"0.856543739091351"]
["C3875007","Nodular thyroid disease",189,4,"0.856543739091351"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066","disease of anatomical entity"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069","disease of anatomical entity"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892","disease of anatomical entity"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556","disease of anatomical entity"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937","disease of anatomical entity"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937"]
["C1850155","TORG-WINCHESTER SYNDROME",185,4,"0.8904162511903769"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937"]
["C0011644","Scleroderma",182,4,"0.6767100101356879","disease of anatomical entity"]
["C0036420","Localized scleroderma",182,4,"0.8924031484606498","disease of anatomical entity"]
["C0263409","Linear Scleroderma",182,4,"0.8908365329532832","disease of anatomical entity"]
["C1527383","Morphea",182,4,"0.8908365329532832","disease of anatomical entity"]
["C0152458","Leukocoria",172,4,"0.598085851562855","disease of anatomical entity"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544"]
["C3151302","Chromosome 13q14 deletion syndrome",172,4,"0.06853308659889465","genetic disease"]
["C3151445","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",172,4,"0.30082344945229544","disease of anatomical entity"]
["C1260386","Glucocorticoid-remediable aldosteronism",158,4,"0.8397479817803102","disease of anatomical entity"]
["C4020743","Glucocorticoid-remediable familial primary aldosteronism",158,4,"0.9695593994273085"]
["C4020744","Familial primary hyperaldosteronism type 1",158,4,"0.9695593994273085"]
["C4023209","Dexamethasone-suppresible primary hyperaldosteronism",158,4,"0.9695593994273085"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0","disease of anatomical entity"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0","disease of anatomical entity"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0","disease of anatomical entity"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0","disease of anatomical entity"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091","disease of anatomical entity"]
["C0477317","Other primary thrombocytopenia",151,4,"0.5454733586788403","disease of anatomical entity"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199","disease of anatomical entity"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112","disease of anatomical entity"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777"]
["C0497299","meningitis/encephalitis",132,4,"0.8961309741885334"]
["C0948264","Neuroborreliosis",132,4,"0.8961309741885332"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813","disease of anatomical entity"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062","disease of anatomical entity"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061","disease of anatomical entity"]
["C0852283","Respiratory Distress Syndrome",118,4,"0.65512356634232"]
["C0001306","Acute alcoholic liver disease",116,4,"0.7883071854459298","disease of anatomical entity"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316","disease by infectious agent"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316","disease of anatomical entity"]
["C1290344","Nonspecific interstitial pneumonia",116,4,"-0.003977874222303178","disease of anatomical entity"]
["C3874381","Childhood nephrotic syndrome",116,4,"0.7930542201453316"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0"]
["C1834372","Narcolepsy 1",108,4,"1.0","disease of mental health"]
["C4025713","Paroxysmal drowsiness",108,4,"1.0"]
["C4543926","Narcolepsy type 1",108,4,"1.0"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","disease of anatomical entity"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","disease of anatomical entity"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","disease of anatomical entity"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","disease of anatomical entity"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852","genetic disease"]
["C3278138","FIBROCHONDROGENESIS 1",91,4,"0.9566780682623128","disease of anatomical entity"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054","disease of anatomical entity"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854","disease of anatomical entity"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147","disease of anatomical entity"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147","disease of anatomical entity"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","disease of metabolism"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","disease of anatomical entity"]
["C0949496","Luft Disease",79,4,"0.8236839081654147","disease of anatomical entity"]
["C0011636","Dermatophytosis",78,4,"0.9010049904006909","disease by infectious agent"]
["C0040247","Tinea",78,4,"0.9010049904006909","disease by infectious agent"]
["C1262313","Invasive Fungal Infections",78,4,"0.7059847213506212"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587","disease by infectious agent"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989","disease of anatomical entity"]
["C0085663","Plasmacytosis",71,4,"0.5640227428535829"]
["C0854706","Neonatal infection",71,4,"0.7879726612329239"]
["C1304456","Congo hemorrhagic fever",71,4,"0.7879726612329239"]
["C0085655","Polymyositis",59,4,"0.8582276889857904"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199"]
["C0022806","Kwashiorkor",54,4,"0.8410997792706195","disease of metabolism"]
["C0151482","Megaloblastic anemia due to folate deficiency",54,4,"0.8410997792706195","disease of metabolism"]
["C0744483","growth hormone treatment",54,4,"0.4903928473083416"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637"]
["C0271561","Somatotropin deficiency",52,4,"0.6066731568781064"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216","disease of anatomical entity"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015","disease of anatomical entity"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556"]
["C2919861","Medullary cystic kidney disease type 1",51,4,"-0.03064740386634348"]
["C4025730","Renal cortical atrophy",51,4,"0.8209579156411062"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948"]
["C1857813","Macular Degeneration, Age-Related, 7",44,4,"0.9996445193767856","disease of anatomical entity"]
["C4225211","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",44,4,"0.9996445193767856","disease of anatomical entity"]
["C4293701","Status cribrosum",44,4,"0.9996445193767856"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0149649","Cholesterol Embolism",23,4,"0.9999999999999991","disease of anatomical entity"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239","disease of anatomical entity"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792","disease of anatomical entity"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792","disease of anatomical entity"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792","disease of anatomical entity"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502","disease of anatomical entity"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776","disease of anatomical entity"]
["C3281128","FIBROCHONDROGENESIS 2",11,4,"0.9986611192663502","disease of anatomical entity"]
["C0038557","Submandibular Gland Diseases",7,4,"1.0","disease of anatomical entity"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0"]
["C4225296","MENTAL RETARDATION, AUTOSOMAL DOMINANT 39",2188,3,"1.0"]
["C4225432","CHROMOSOME 2p25.3 DUPLICATION SYNDROME",2188,3,"1.0"]
["C4225433","CHROMOSOME 2p25.3 DELETION SYNDROME",2188,3,"1.0"]
["C0085417","Epilepsy, Complex Partial",2187,3,"1.0","disease of anatomical entity"]
["C0751640","Cryptogenic Partial Complex Epilepsy",2187,3,"1.0","disease of anatomical entity"]
["C0751641","Epilepsy, Symptomatic, Partial Complex",2187,3,"1.0","disease of anatomical entity"]
["C0749398","Recurrent thromboembolic disease",2170,3,"1.0"]
["C2751090","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency",2170,3,"1.0"]
["C2751091","Thrombophilia Due To Elevated Histidine-Rich Glycoprotein",2170,3,"1.0"]
["C0795942","Fitzsimmons-Guilbert syndrome",2164,3,"1.0"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0"]
["C4310784","MENTAL RETARDATION, AUTOSOMAL DOMINANT 41",2164,3,"1.0"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0"]
["C1852750","Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation",2160,3,"1.0"]
["C3805432","COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",2160,3,"1.0"]
["C0038041","Spotted Fever Group Rickettsiosis",2152,3,"1.0","disease by infectious agent"]
["C0041471","TYPHUS",2152,3,"1.0","disease by infectious agent"]
["C0343758","Typhus group rickettsial disease",2152,3,"1.0"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618","disease of anatomical entity"]
["C4011926","WHITE SPONGE NEVUS 1",2146,3,"0.4374897000674704","disease of anatomical entity"]
["C4014321","WHITE SPONGE NEVUS 2",2146,3,"0.24201997154868293","disease of anatomical entity"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607","physical disorder"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356"]
["C4225266","IMMUNODEFICIENCY 42",2132,3,"0.34023871987494253"]
["C0342765","D-Glyceric aciduria",2127,3,"1.0"]
["C1291386","D-glycericacidemia",2127,3,"1.0"]
["C3887877","Deficiency of glycerate kinase",2127,3,"1.0"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656","disease by infectious agent"]
["C0483368","Human anaplasmosis due to Anaplasma phagocytophilum",2115,3,"0.23389454682244462"]
["C3151068","RETINITIS PIGMENTOSA 44",2115,3,"0.05352557818713353","disease of anatomical entity"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0"]
["C3495589","Jalili syndrome",2113,3,"1.0"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","genetic disease"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","genetic disease"]
["C4479534","TOWNES-BROCKS SYNDROME 2",2096,3,"0.20090481602953247"]
["C1847973","Persistent Polyclonal B-Cell Lymphocytosis",2095,3,"0.9979012783369534"]
["C3554686","IMMUNODEFICIENCY 11",2095,3,"0.9989503257576544"]
["C4539957","IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS",2095,3,"0.9989503257576544"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485","disease of anatomical entity"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845","disease of anatomical entity"]
["C0035585","Rickettsia Infections",2091,3,"1.0","disease by infectious agent"]
["C0162699","Tick-Borne Infections",2091,3,"1.0"]
["C0162700","Tick-Borne Diseases",2091,3,"1.0"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115","disease of anatomical entity"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321","disease of anatomical entity"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469","disease of anatomical entity"]
["C0268632","Homocarnosinosis",2089,3,"1.0"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0"]
["C3495555","Carnosinemia",2089,3,"1.0"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601","disease of metabolism"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021","disease of metabolism"]
["C1997910","Citrin deficiency",2085,3,"0.9983849875296601"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0","disease of anatomical entity"]
["C0242770","Bronchiolitis Obliterans Organizing Pneumonia",2081,3,"1.0","disease of anatomical entity"]
["C3809768","IMMUNODEFICIENCY 13",2081,3,"1.0"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671","disease of mental health"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554","disease of metabolism"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811","disease of metabolism"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811","disease of metabolism"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624"]
["C3150891","COCOON SYNDROME",2069,3,"0.7041825049843902","syndrome"]
["C0341698","Atrophy of kidney",2063,3,"0.9800181943609076"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0","disease of anatomical entity"]
["C2746067","Spinocerebellar ataxia 22",2061,3,"1.0"]
["C4225340","BRUGADA SYNDROME 9",2061,3,"1.0","disease of anatomical entity"]
["C0748903","spinal cord involvement",2059,3,"0.5687426290587779"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036"]
["C3809008","HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY",2059,3,"0.13177922814717405"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953","disease of anatomical entity"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953","disease of anatomical entity"]
["C3538999","DYSTONIA 23",2057,3,"0.5685229120141311","disease of anatomical entity"]
["C0339383","Choroidal and/or chorioretinal disorder",2051,3,"1.0"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","syndrome"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338","genetic disease"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499"]
["C0263874","Degeneration of lumbar intervertebral disc",2042,3,"0.48952620884826686"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715","disease of anatomical entity"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621","disease of anatomical entity"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0"]
["C4024950","Nonprogressive encephalopathy",2039,3,"1.0"]
["C4540014","VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",2039,3,"1.0"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","syndrome"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625","syndrome"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314","syndrome"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193","disease of anatomical entity"]
["C4225419","RITSCHER-SCHINZEL SYNDROME 2",2028,3,"0.2945519152029828","syndrome"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818","genetic disease"]
["C0341007","Alveolar ridge abnormality",2027,3,"0.9714367058705354"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983"]
["C0040947","Trichostrongyloidiasis",2025,3,"1.0","disease by infectious agent"]
["C3150923","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",2025,3,"1.0"]
["C4013764","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES",2025,3,"1.0"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0"]
["C3150127","BARDET-BIEDL SYNDROME 15",2024,3,"1.0","genetic disease"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156","disease of metabolism"]
["C3151404","AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",2023,3,"0.6895241324332145","disease of metabolism"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","disease of cellular proliferation"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","disease of anatomical entity"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404","disease of cellular proliferation"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404","disease of anatomical entity"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574"]
["C3280296","Microcephaly-capillary malformation syndrome",2020,3,"0.2606335725477711"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679","genetic disease"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029"]
["C2921112","Septate uterus, complete or partial",2014,3,"0.9995763003557029"]
["C0271836","X-linked reduction of thyroxine-binding globulin",2010,3,"1.0"]
["C1839141","Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C3711378","Inherited Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556","disease of anatomical entity"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001","disease of anatomical entity"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001","disease of anatomical entity"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0","disease of anatomical entity"]
["C1854058","SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",1988,3,"1.0"]
["C1866777","Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",1988,3,"1.0"]
["C0393555","Pure hereditary spastic paraplegia",1987,3,"1.0"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0","disease of anatomical entity"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353","genetic disease"]
["C4274079","Bile acid CoA ligase deficiency and defective amidation",1986,3,"0.22106619772570074"]
["C1867315","Retinal Nonattachment And Falciform Detachment",1980,3,"0.7175213063989154"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154","disease of anatomical entity"]
["C3151617","ANTERIOR SEGMENT DYSGENESIS 7",1980,3,"0.39625116947742944"]
["C0030508","Parasomnia",1962,3,"1.0"]
["C1868570","CHAR SYNDROME",1962,3,"1.0","disease of anatomical entity"]
["C4284595","PATENT DUCTUS ARTERIOSUS 2",1962,3,"1.0"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","genetic disease"]
["C3150191","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities",1948,3,"0.9200101486139004"]
["C4317224","Congenital disorder of glycosylation type 1q",1948,3,"0.7586903336298874","disease of metabolism"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817","genetic disease"]
["C4025196","Recurrent systemic pyogenic infections",1942,3,"0.999416310286182"]
["C4304022","Attenuated ChÃ©diak-Higashi syndrome",1942,3,"0.999416310286182"]
["C1843791","CARDIOMYOPATHY, DILATED, 1N",1941,3,"1.0"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0","disease of anatomical entity"]
["C4225408","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",1941,3,"1.0","disease of anatomical entity"]
["C1838299","Peroxisome Biogenesis Disorder, Complementation Group 14",1936,3,"1.0"]
["C1838300","Peroxisome Biogenesis Disorder, Complementation Group J",1936,3,"1.0"]
["C3554002","PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)",1936,3,"1.0"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0","disease of metabolism"]
["C0268221","Fucosidosis Type I",1935,3,"1.0","disease of metabolism"]
["C0268222","Fucosidosis Type II",1935,3,"1.0","disease of metabolism"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991","disease of anatomical entity"]
["C1837549","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",1933,3,"0.9213910597659157","disease of anatomical entity"]
["C1853296","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3",1933,3,"0.8823924145580664","disease of anatomical entity"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0"]
["C0740749","Chronic metabolic acidosis",1928,3,"1.0"]
["C1856399","Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",1928,3,"1.0"]
["C1841989","Glomerulonephritis sparse hair telangiectases",1927,3,"1.0"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0"]
["C4317151","Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",1927,3,"1.0"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112","disease of metabolism"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841","disease of metabolism"]
["C1879362","Hypertyrosinemia",1922,3,"0.8588806966598388","disease of metabolism"]
["C1864356","ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",1913,3,"0.9943563839217691","disease of anatomical entity"]
["C4014690","EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",1913,3,"0.9971774483802369"]
["C4225399","SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES",1913,3,"0.9971774483802369"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948","disease of anatomical entity"]
["C4015542","NEPHRONOPHTHISIS 19",1909,3,"0.9924594449072948","genetic disease"]
["C4479344","SCLEROSING CHOLANGITIS, NEONATAL",1909,3,"0.9849411022011099"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","disease of anatomical entity"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688","syndrome"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688","disease of anatomical entity"]
["C0235946","Cerebral atrophy",1900,3,"0.6108245095183256","disease of anatomical entity"]
["C4020860","Supratentorial atrophy",1900,3,"0.7572480642891091"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0","disease of metabolism"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0","disease of metabolism"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0","disease of metabolism"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0","disease of anatomical entity"]
["C3280977","SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",1897,3,"1.0","disease of anatomical entity"]
["C4274988","Spinocerebellar ataxia type 28",1897,3,"1.0"]
["C1858477","Epilepsy, Partial, with Variable Foci",1895,3,"0.348071332974478"]
["C4310708","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",1895,3,"0.19514242380157906"]
["C4310709","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",1895,3,"0.19514242380157906"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048","disease of anatomical entity"]
["C3148823","WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",1893,3,"0.9960886677518175","disease of anatomical entity"]
["C3148824","WH/HT",1893,3,"0.9960886677518175"]
["C1848435","WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",1892,3,"0.5827144378236757","disease of anatomical entity"]
["C1854310","Hypotrichosis simplex",1892,3,"0.1837819997464611","disease of anatomical entity"]
["C3279470","HYPOTRICHOSIS 8",1892,3,"0.6960132188769539","disease of anatomical entity"]
["C1366911","Cerebral Cavernous Malformations 1",1890,3,"0.9989230515253277"]
["C1861785","Cavernous Malformations of CNS and Retina",1890,3,"0.9994625329171823"]
["C1861786","Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations",1890,3,"0.9994625329171823"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715","disease of metabolism"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715","disease of anatomical entity"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715","disease of metabolism"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715","disease of anatomical entity"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634","disease of anatomical entity"]
["C0001338","Herpetic Acute Necrotizing Encephalitis",1881,3,"0.8495956933717724"]
["C0019385","Herpetic meningoencephalitis",1881,3,"0.9281142004175484"]
["C0276226","Herpes encephalitis",1881,3,"0.9106485268209112"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","disease of mental health"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534"]
["C4225349","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA",1879,3,"0.7123240917271534","syndrome"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","disease of anatomical entity"]
["C0543697","Mixed cryoglobulinemia",1868,3,"0.42793889561978304","disease of anatomical entity"]
["C3542922","IMMUNODEFICIENCY, COMMON VARIABLE, 7",1868,3,"0.012789108690259137","disease of anatomical entity"]
["C3554540","LYMPHOPROLIFERATIVE SYNDROME 2",1868,3,"0.2270189344199347","disease of anatomical entity"]
["C0020800","Idiopathic Hypercatabolic Hypoproteinemia",1866,3,"0.9532340651889991","disease of anatomical entity"]
["C0033680","Protein-Losing Enteropathies",1866,3,"0.8918414272593603","disease of anatomical entity"]
["C4538570","COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",1866,3,"0.9532340651889991","disease of anatomical entity"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","disease of anatomical entity"]
["C4225382","COLE-CARPENTER SYNDROME 2",1859,3,"0.31820989922858894","disease of anatomical entity"]
["C4317154","COLE-CARPENTER SYNDROME 1",1859,3,"0.2690631429428057","disease of anatomical entity"]
["C0152136","Low Tension Glaucoma",1857,3,"0.6895494718443996","disease of anatomical entity"]
["C0393729","Immersion Related Epilepsy",1857,3,"0.8588056389000274","disease of anatomical entity"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","disease of metabolism"]
["C3280479","PITT-HOPKINS-LIKE SYNDROME 2",1856,3,"1.0"]
["C3280524","SCHIZOPHRENIA 17",1856,3,"1.0"]
["C3808494","CHROMOSOME 2p16.3 DELETION SYNDROME",1856,3,"1.0"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","syndrome"]
["C3806565","XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",1853,3,"0.9701802351769376","genetic disease"]
["C3808988","FANCONI ANEMIA, COMPLEMENTATION GROUP Q",1853,3,"0.9701802351769376","disease of anatomical entity"]
["C3809811","PARKINSON DISEASE 19A, JUVENILE-ONSET",1848,3,"0.7779017889053547","disease of anatomical entity"]
["C4310802","PARKINSON DISEASE 19B, EARLY-ONSET",1848,3,"0.7779017889053547","disease of anatomical entity"]
["C4510873","Atypical juvenile parkinsonism",1848,3,"0.0"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503"]
["C1851920","Dopa-Responsive Dystonia",1838,3,"0.7381031668122107","disease of anatomical entity"]
["C2673535","DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",1838,3,"0.37246962795044164"]
["C0042345","Varicosity",1837,3,"0.15021081890586396","disease of anatomical entity"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988"]
["C3810170","DEAFNESS, AUTOSOMAL DOMINANT 56",1837,3,"0.03571767562373238","disease of anatomical entity"]
["C0005395","Bile Duct Diseases",1826,3,"0.7410174652844066","disease of anatomical entity"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","disease of metabolism"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478","disease of metabolism"]
["C0023092","Lassa Fever",1825,3,"1.0","disease by infectious agent"]
["C3151184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",1825,3,"1.0","disease of anatomical entity"]
["C4225291","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",1825,3,"1.0"]
["C1858386","Leber Congenital Amaurosis 4",1821,3,"1.0","disease of anatomical entity"]
["C2751763","Retinitis Pigmentosa, Juvenile, Aipl1-Related",1821,3,"1.0","disease of anatomical entity"]
["C2751764","CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)",1821,3,"1.0","disease of anatomical entity"]
["C0030569","Secondary Parkinson Disease",1815,3,"1.0","disease of anatomical entity"]
["C0751414","Parkinson Disease, Secondary Vascular",1815,3,"1.0","disease of anatomical entity"]
["C0751415","Atherosclerotic Parkinsonism",1815,3,"1.0","disease of anatomical entity"]
["C0019050","Hemoglobinuria, Paroxysmal",1806,3,"0.8575029885859068","disease of anatomical entity"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564","disease of anatomical entity"]
["C0086774","Cold paroxysmal hemoglobinuria",1806,3,"0.8560542491747499","disease of anatomical entity"]
["C0158962","Hemolytic disease of fetus OR newborn due to RhD isoimmunization",1804,3,"0.8028804708317344","disease of anatomical entity"]
["C1263988","Hemolytic disorder",1804,3,"0.4778547659029687","disease of anatomical entity"]
["C3698348","Anti-D isoimmunization affecting pregnancy",1804,3,"0.7861702116869942"]
["C0272052","Rh Deficiency Syndrome",1803,3,"0.7511318301054977","disease of anatomical entity"]
["C1849387","Rh-Null, Regulator Type",1803,3,"0.8359234306347942","disease of anatomical entity"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591","disease of anatomical entity"]
["C0032300","Lobar Pneumonia",1802,3,"0.9255647625813682","disease of anatomical entity"]
["C3714636","Pneumonitis",1802,3,"0.9325632566281837","disease of anatomical entity"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387","disease of anatomical entity"]
["C4225289","EPILEPSY, PROGRESSIVE MYOCLONIC, 9",1801,3,"0.7755009700527273"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889","disease of mental health"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0"]
["C3550693","PEROXISOME BIOGENESIS DISORDER 3B",1790,3,"1.0","disease of metabolism"]
["C3553929","PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)",1790,3,"1.0"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447","disease of metabolism"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517","disease of metabolism"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517","disease of metabolism"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382","disease of metabolism"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502","disease of metabolism"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","disease of metabolism"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0","disease of metabolism"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0","disease of metabolism"]
["C2931894","Mucolipidosis 2",1780,3,"1.0"]
["C1857144","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",1779,3,"0.39096744761216035","disease of anatomical entity"]
["C3151441","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",1779,3,"0.2588869415408644","disease of anatomical entity"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","disease of metabolism"]
["C1706559","Cornea verticillata",1775,3,"0.9732926826845234"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344","disease of metabolism"]
["C0949855","Electron Transport Chain Deficiencies, Mitochondrial",1774,3,"0.9996297667474157","disease of metabolism"]
["C0949856","Oxidative Phosphorylation Deficiencies",1774,3,"0.9994447643342457","disease of metabolism"]
["C0949857","Mitochondrial Respiratory Chain Deficiencies",1774,3,"0.9994447643342457","disease of metabolism"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761","disease of metabolism"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867","disease of metabolism"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867","disease of metabolism"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684","disease of metabolism"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147","disease of metabolism"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583","disease of metabolism"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0"]
["C3552236","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",1750,3,"1.0","disease of anatomical entity"]
["C4024960","Unilateral polymicrogyria",1750,3,"1.0"]
["C0017178","Gastrointestinal Diseases",1742,3,"0.9969676479693609","disease of anatomical entity"]
["C0559031","Functional Gastrointestinal Disorders",1742,3,"0.9984558439313651"]
["C1565321","Cholera Infantum",1742,3,"0.998489064790591"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748","syndrome"]
["C4072877","Scalp folds",1739,3,"0.9999999999999748"]
["C0003175","Anthrax disease",1736,3,"0.6264321207454795","disease by infectious agent"]
["C0017567","Gingival Hypertrophy",1736,3,"0.35725477632624814","disease of anatomical entity"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959"]
["C1832841","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",1730,3,"0.5501669211630772"]
["C1842852","EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2",1730,3,"0.205518699249844"]
["C3809374","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5",1730,3,"0.22496788737224574"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674","genetic disease"]
["C3809288","LEFT VENTRICULAR NONCOMPACTION 8",1726,3,"0.5689775839107454"]
["C3809289","CARDIOMYOPATHY, DILATED, 1LL",1726,3,"0.5689775839107454"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0"]
["C1336820","Treatment-Induced Anemia",1723,3,"1.0"]
["C4225256","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",1723,3,"1.0"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056"]
["C4012790","Ataxia-Telangiectasisa-Like Disorder 1",1712,3,"0.6228357668453862"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357"]
["C1291266","Deficiency of aldehyde oxidase",1707,3,"0.9804894260217336"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214","genetic disease"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978"]
["C3896960","Childhood Pre-B Acute Lymphoblastic Leukemia",1705,3,"-0.027256490904037218"]
["C1854776","Infantile cardiomyopathy",1703,3,"0.979530290173549"]
["C3279793","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8",1703,3,"0.958339283945338","disease of metabolism"]
["C4014588","LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",1703,3,"0.979530290173549"]
["C0033046","Premenstrual syndrome",1702,3,"0.966480153099697","disease of anatomical entity"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242","disease of anatomical entity"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739","disease of anatomical entity"]
["C4275181","Autosomal recessive limb girdle muscular dystrophy type 2A",1701,3,"0.9992510185641242"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087","disease of metabolism"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701","disease of metabolism"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739","disease of metabolism"]
["C1857079","Atretic auditory canal",1696,3,"0.024189804135687224"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","genetic disease"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577"]
["C0027743","Nerve compression syndrome",1688,3,"0.8472684661866572","disease of anatomical entity"]
["C1510429","Entrapment Neuropathies",1688,3,"0.8472684661866572","disease of anatomical entity"]
["C4225250","SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",1688,3,"0.6890086092574034","disease of anatomical entity"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146"]
["C4015557","AMELOGENESIS IMPERFECTA, TYPE IH",1686,3,"0.09544266829805154","disease of anatomical entity"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0","disease of metabolism"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0","disease of metabolism"]
["C4024919","Spinocerebellar tract disease in lower limbs",1672,3,"1.0"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533","disease of anatomical entity"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109","disease of anatomical entity"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438","disease of anatomical entity"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779","disease of anatomical entity"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","genetic disease"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635"]
["C3554689","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",1661,3,"0.9997837179499807","disease of anatomical entity"]
["C4014934","IMMUNODEFICIENCY 36",1661,3,"0.9997837179499807"]
["C0026618","Dental Fluorosis, Acquired",1660,3,"0.5243431378048634","disease of anatomical entity"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511","disease of anatomical entity"]
["C3280660","ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",1660,3,"0.7324175848311858"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0"]
["C3553947","PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)",1659,3,"1.0"]
["C3553948","PEROXISOME BIOGENESIS DISORDER 6B",1659,3,"1.0"]
["C4539714","MECKEL SYNDROME 13",1656,3,"1.0"]
["C4539715","JOUBERT SYNDROME 29",1656,3,"1.0"]
["C4539729","OROFACIODIGITAL SYNDROME XVI",1656,3,"1.0"]
["C0033141","Cardiomyopathies, Primary",1651,3,"0.9490350504622265","disease of anatomical entity"]
["C0036529","Myocardial Diseases, Secondary",1651,3,"0.9490478822467757","disease of anatomical entity"]
["C0878544","Cardiomyopathies",1651,3,"0.8935952248165085","disease of anatomical entity"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982","disease of metabolism"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231","disease of metabolism"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108","disease of metabolism"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623"]
["C0747078","Generalized osteopenia",1642,3,"0.09313533783521795"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0","genetic disease"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","genetic disease"]
["C4225344","TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",1640,3,"1.0"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","disease of metabolism"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324","disease of metabolism"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776","disease of metabolism"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197","disease by infectious agent"]
["C0451697","Immunodeficiency following hereditary defective response to Epstein-Barr virus",1625,3,"0.7507871873692012","disease of anatomical entity"]
["C1264624","Fatal infectious mononucleosis",1625,3,"0.7507871873692012"]
["C0795842","chromosome 11q duplication syndrome",1615,3,"0.994706033041004"]
["C3150803","NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.9887721518740699"]
["C4016301","NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.994706033041004"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511","disease of anatomical entity"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511","disease of anatomical entity"]
["C3469521","FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",1605,3,"0.5636886029201941","disease of anatomical entity"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041","disease of anatomical entity"]
["C0272027","Pyridoxine-responsive sideroblastic anemia",1604,3,"0.7589362110647558"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036","disease of anatomical entity"]
["C0029106","Opisthorchiasis",1601,3,"1.0","disease by infectious agent"]
["C0277004","Opisthorchis felineus Infection",1601,3,"1.0","disease by infectious agent"]
["C0277005","Opisthorchis viverrini Infection",1601,3,"1.0","disease by infectious agent"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394","disease of metabolism"]
["C0342701","Transcobalamin II deficiency",1600,3,"0.12675202265221647","disease of metabolism"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856","disease of metabolism"]
["C0002888","Anemia, Megaloblastic",1599,3,"0.3113814700916742","disease of anatomical entity"]
["C0016412","Folic Acid Deficiency",1599,3,"0.5937557280258959"]
["C3151205","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency",1599,3,"0.7022937679332074","disease of anatomical entity"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0"]
["C1837148","MYOPIA 6 (disorder)",1597,3,"0.606976978666884","disease of anatomical entity"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","disease of metabolism"]
["C2931111","Myopia, susceptibility to",1597,3,"0.606976978666884"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474","disease of anatomical entity"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784","disease of anatomical entity"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784","disease of anatomical entity"]
["C1955741","Glucocorticoid deficiency",1593,3,"0.14891614791697927"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764"]
["C4049714","Familial Glucocorticoid Deficiency Type 2",1593,3,"0.25484786257589775"]
["C1291611","Deficiency of glucose-6-phosphate isomerase",1592,3,"1.0"]
["C3150730","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",1592,3,"1.0","disease of anatomical entity"]
["C4025184","Spontaneous hemolytic crises",1592,3,"1.0"]
["C0395837","Stenosis of external auditory canal",1591,3,"0.1918902462414706"]
["C0796117","Pitt-Rogers-Danks Syndrome",1591,3,"0.5489463610066461","genetic disease"]
["C1956097","Wolf-Hirschhorn Syndrome",1591,3,"0.5806709883240742","genetic disease"]
["C0036690","Septicemia",1590,3,"0.9509921932341228"]
["C0243026","Sepsis",1590,3,"0.957037617548331"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135"]
["C0271801","Central hypothyroidism",1587,3,"0.656909284363833","disease of anatomical entity"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874","disease of anatomical entity"]
["C4316995","Primary Hypothyroidism",1587,3,"0.5898037728754693","disease of anatomical entity"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","genetic disease"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177","disease of anatomical entity"]
["C0477362","Other specified extrapyramidal and movement disorders",1584,3,"0.6653449434725934","disease of anatomical entity"]
["C3553288","HYPEREKPLEXIA 3",1584,3,"0.21501948255422285","disease of anatomical entity"]
["C3553291","HYPEREKPLEXIA 2",1584,3,"0.3040977728098021","disease of anatomical entity"]
["C3554398","SPINAL MUSCULAR ATROPHY, JOKELA TYPE",1581,3,"1.0"]
["C4014648","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2",1581,3,"1.0","disease of anatomical entity"]
["C4015513","MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",1581,3,"1.0"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0","physical disorder"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0","disease of anatomical entity"]
["C3715164","LEBER CONGENITAL AMAUROSIS 17",1578,3,"1.0","disease of anatomical entity"]
["C3150967","KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",1577,3,"0.9039202345277295","physical disorder"]
["C3150968","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6",1577,3,"0.6228390306071097"]
["C3150969","MICROPHTHALMIA, ISOLATED 7",1577,3,"0.9039202345277295","disease of anatomical entity"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0","disease of anatomical entity"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997","disease of anatomical entity"]
["C1853392","Interleukin 2 Receptor, Alpha, Deficiency of",1563,3,"0.9994186046050487"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997","disease of metabolism"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187","disease of anatomical entity"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027","disease of anatomical entity"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456","disease of anatomical entity"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","syndrome"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","genetic disease"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","disease of anatomical entity"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356","genetic disease"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","genetic disease"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","genetic disease"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","genetic disease"]
["C0032197","Platelet Storage Pool Deficiency",1549,3,"0.33774002271700443","disease of anatomical entity"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","genetic disease"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","genetic disease"]
["C1969032","Cataract, Autosomal Dominant, Multiple Types 1",1544,3,"0.9818921622111928"]
["C3808115","CATARACT 12, MULTIPLE TYPES",1544,3,"0.9640131352322965","disease of anatomical entity"]
["C4021566","Progressive cataract",1544,3,"0.9818921622111928"]
["C0858617","Posterior subcapsular cataract",1540,3,"0.052711213386187644"]
["C1112768","Anterior subcapsular cataract",1540,3,"0.7180967726171851"]
["C1854311","Cataract, posterior polar, 3",1540,3,"0.7180967726171851","disease of anatomical entity"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868"]
["C1852438","CATARACT, COPPOCK-LIKE",1537,3,"0.5723004159825456","disease of anatomical entity"]
["C1861829","Cataract microcornea syndrome",1537,3,"0.3577739220403943"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257","disease of metabolism"]
["C3553494","CATARACT 38",1532,3,"0.9172248741417512","disease of anatomical entity"]
["C4025277","Exercise-induced lactic acidemia",1532,3,"0.9172248741417512"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108","disease of anatomical entity"]
["C3280799","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB",1525,3,"0.6022810193401438","disease of anatomical entity"]
["C0023212","Left-Sided Heart Failure",1524,3,"0.9410950331781256","disease of anatomical entity"]
["C0235527","Heart Failure, Right-Sided",1524,3,"0.9671676281065485","disease of anatomical entity"]
["C1959583","Myocardial Failure",1524,3,"0.9684803067912073","disease of anatomical entity"]
["C3810127","IMMUNODEFICIENCY 18",1522,3,"1.0"]
["C3810128","IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",1522,3,"1.0"]
["C3810129","IMMUNODEFICIENCY 18, SCID VARIANT",1522,3,"1.0"]
["C0016063","Osteitis Fibrosa Disseminata",1510,3,"0.4283835395680186","genetic disease"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321","genetic disease"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321"]
["C4024867","Perifollicular hyperkeratosis",1509,3,"0.3855165440601735"]
["C4273658","Graham Little Piccardi Lassueur syndrome",1509,3,"0.12256466013168467"]
["C4540331","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5",1509,3,"0.14363459670153464"]
["C0019357","Keratitis, Herpetic",1504,3,"0.8543140063370543","disease of anatomical entity"]
["C0024441","Macular Holes",1504,3,"0.8543140063370543","disease of anatomical entity"]
["C1853959","Birdshot chorioretinopathy",1504,3,"0.7584042522847354","disease of anatomical entity"]
["C0019100","Severe Dengue",1496,3,"0.7285070510157791","disease by infectious agent"]
["C0376300","Dengue Shock Syndrome",1496,3,"0.7320328876670107","disease by infectious agent"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988","disease of anatomical entity"]
["C0009447","Common Variable Immunodeficiency",1489,3,"0.8050564431092794","disease of anatomical entity"]
["C2936664","Acquired Hypogammaglobulinemia",1489,3,"0.9098670297563175","disease of anatomical entity"]
["C2936665","Immunoglobulin Deficiency, Late-Onset",1489,3,"0.9018156343602505","disease of anatomical entity"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655","disease of anatomical entity"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","disease of anatomical entity"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0"]
["C3809443","MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",1485,3,"1.0","disease of metabolism"]
["C4310676","MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",1485,3,"1.0"]
["C0008312","Primary biliary cirrhosis",1480,3,"0.720194626981639","disease of anatomical entity"]
["C0023892","Biliary cirrhosis",1480,3,"0.825384502803407","disease of anatomical entity"]
["C0238065","Biliary Cirrhosis, Secondary",1480,3,"0.7621702456876895","disease of anatomical entity"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543"]
["C0268307","Conjugated hyperbilirubinemia",1479,3,"0.3211554123848656"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677","disease of anatomical entity"]
["C0020433","Hyperbilirubinemia",1478,3,"0.3877236539305781","disease of metabolism"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497","disease of metabolism"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883","disease of metabolism"]
["C3554656","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",1467,3,"1.0","disease of anatomical entity"]
["C3808802","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",1467,3,"1.0","disease of anatomical entity"]
["C4225346","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3",1467,3,"1.0"]
["C0270715","Degenerative Diseases, Central Nervous System",1465,3,"0.8958738790288657","disease of anatomical entity"]
["C0524851","Neurodegenerative Disorders",1465,3,"0.7706493839617259","disease of anatomical entity"]
["C0751733","Degenerative Diseases, Spinal Cord",1465,3,"0.8958738790288657","disease of anatomical entity"]
["C0242383","Age related macular degeneration",1460,3,"0.3508155435707356","disease of anatomical entity"]
["C1536085","Geographic Atrophy",1460,3,"0.5365313915217961"]
["C2237660","exudative macular degeneration",1460,3,"0.5431116014489481","disease of anatomical entity"]
["C2931245","Bone Marrow failure syndromes",1459,3,"0.8681829340857987"]
["C3808553","Bone marrow failure syndrome 1",1459,3,"0.8082675486789305"]
["C3810350","Bone marrow failure syndrome 2",1459,3,"0.8140233132956897"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967","syndrome"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875","disease of metabolism"]
["C1442837","Myocardial necrosis",1457,3,"0.5199584299255984"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068"]
["C3554518","COWDEN SYNDROME 5",1453,3,"0.9820446258220068","genetic disease"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103","disease of metabolism"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103","disease of anatomical entity"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463","disease of metabolism"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463","disease of anatomical entity"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613","disease of metabolism"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613","disease of anatomical entity"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","disease of metabolism"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928","disease of metabolism"]
["C0031029","Periapical Granuloma",1446,3,"0.49219730693611324","disease of anatomical entity"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904","disease of anatomical entity"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621","disease of anatomical entity"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894","disease of anatomical entity"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788","disease of anatomical entity"]
["C0456103","Sepsis of the newborn",1425,3,"1.0"]
["C3553597","3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",1425,3,"1.0","disease of metabolism"]
["C4040739","3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",1425,3,"1.0"]
["C0085662","Macrocytosis",1415,3,"0.6898979485566357"]
["C0236970","Alcohol-Induced Disorders",1415,3,"0.816496580927726"]
["C0679414","alcohol flush reaction",1415,3,"0.816496580927726"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","disease of anatomical entity"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111","disease of anatomical entity"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104","disease of anatomical entity"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815"]
["C4280333","Recurrent sinus disease",1409,3,"0.6221372819029892"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951","genetic disease"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414","genetic disease"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225","genetic disease"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981","disease of anatomical entity"]
["C0343084","Capillary Leak Syndrome",1407,3,"0.9496117476479664","disease of anatomical entity"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191","disease of anatomical entity"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347","disease of anatomical entity"]
["C0036323","Schistosomiasis",1401,3,"0.4219447499614753","disease by infectious agent"]
["C1850938","FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",1401,3,"0.44476091201218726","disease of anatomical entity"]
["C0012716","Disorder of magnesium metabolism",1389,3,"0.9722803115394203","disease of metabolism"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","disease of metabolism"]
["C3151482","HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",1389,3,"0.9722803115394203","disease of metabolism"]
["C0003507","Aortic Valve Stenosis",1388,3,"0.48225750069486184","disease of anatomical entity"]
["C3542024","AORTIC VALVE DISEASE 2",1388,3,"0.7393921099168455","disease of anatomical entity"]
["C4479496","CRANIOSYNOSTOSIS 7",1388,3,"0.7524548660560921"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833","disease of anatomical entity"]
["C0010068","Coronary heart disease",1381,3,"0.20571659217144087","disease of anatomical entity"]
["C1956346","Coronary Artery Disease",1381,3,"0.5274957649514675","disease of anatomical entity"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672"]
["C0585953","Recurrent chest infections",1368,3,"0.998040995440351"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351"]
["C0011847","Diabetes",1364,3,"0.2947049926547248","disease of metabolism"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","disease of metabolism"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","disease of metabolism"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008","disease of mental health"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593"]
["C4310810","MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",1362,3,"0.25231642807326027"]
["C0268528","Hyperprolinemia",1357,3,"0.7784250447678972"]
["C0268529","Proline dehydrogenase deficiency",1357,3,"0.8890025575602069"]
["C1833247","SCHIZOPHRENIA 4 (disorder)",1357,3,"0.8890025575602069","disease of mental health"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","genetic disease"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092","disease of anatomical entity"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","genetic disease"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","disease of anatomical entity"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","disease of anatomical entity"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678"]
["C0003850","Arteriosclerosis",1322,3,"0.1460645896653591","disease of anatomical entity"]
["C0004153","Atherosclerosis",1322,3,"0.22350184808457763","disease of anatomical entity"]
["C0007222","Cardiovascular Diseases",1322,3,"0.08251658952238015","disease of anatomical entity"]
["C2613439","Extramedullary Hematopoiesis (disorder)",1320,3,"0.06046716607367982"]
["C2931351","Familial myelofibrosis",1320,3,"0.7180248799368277"]
["C3809031","NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",1320,3,"0.5987370900416766","disease of anatomical entity"]
["C0015695","Fatty Liver",1316,3,"0.5990749101810389","disease of metabolism"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807","disease of metabolism"]
["C2711227","Steatohepatitis",1316,3,"0.38953306175171104","disease of metabolism"]
["C3151185","SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY",1312,3,"0.9914935111076358","genetic disease"]
["C3151186","NEPHRONOPHTHISIS 12",1312,3,"0.9830032650755726","genetic disease"]
["C3279203","JOUBERT SYNDROME 11",1312,3,"0.9914935111076358"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0","disease of anatomical entity"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0","disease of anatomical entity"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0","disease of anatomical entity"]
["C0339730","Blindness, Acquired",1301,3,"1.0"]
["C0376288","Amaurosis",1301,3,"1.0"]
["C0750958","Blindness, Monocular",1301,3,"1.0"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089","disease of anatomical entity"]
["C3150354","IMMUNODEFICIENCY, COMMON VARIABLE, 2",1298,3,"0.6181049441109089","disease of anatomical entity"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189","genetic disease"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","genetic disease"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0"]
["C3151063","MACULAR DEGENERATION, AGE-RELATED, 5",1289,3,"1.0","disease of anatomical entity"]
["C4310783","PREMATURE OVARIAN FAILURE 11",1289,3,"1.0"]
["C0393697","Epilepsy with grand mal seizures on awakening (disorder)",1288,3,"1.0"]
["C1854107","Hyperaldosteronism, Familial, Type II",1288,3,"1.0","disease of anatomical entity"]
["C3810242","LEUKOENCEPHALOPATHY WITH ATAXIA",1288,3,"1.0"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0","physical disorder"]
["C4225327","EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",1287,3,"1.0","disease of anatomical entity"]
["C4274995","Lissencephaly with cerebellar hypoplasia",1287,3,"1.0"]
["C0155568","Rheumatic aortic regurgitation",1275,3,"0.8568797603793529","disease of anatomical entity"]
["C0263009","Sclerosis of the skin",1275,3,"0.6239397720381178"]
["C0264774","Mitral and aortic incompetence",1275,3,"0.8568797603793529","disease of anatomical entity"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721","disease of anatomical entity"]
["C3715165","LEFT VENTRICULAR NONCOMPACTION 10",1271,3,"0.9957930780562956"]
["C3809346","CARDIOMYOPATHY, DILATED, 1MM",1271,3,"0.9957930780562956"]
["C0271902","Microcytic normochromic anemia",1270,3,"0.7826772402854394"]
["C1839832","Noncompaction cardiomyopathy",1270,3,"0.12856312160168254"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","disease of metabolism"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171"]
["C3714602","Staphylococcal toxic shock syndrome",1266,3,"0.2689950293512008"]
["C4015141","MENTAL RETARDATION, AUTOSOMAL DOMINANT 29",1266,3,"0.7780821530583171"]
["C2674249","Anemia, Sideroblastic, Autosomal Dominant",1262,3,"1.0"]
["C4225180","EVEN-PLUS SYNDROME",1262,3,"1.0"]
["C4225428","ANEMIA, SIDEROBLASTIC, 4",1262,3,"1.0","disease of anatomical entity"]
["C2673914","Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",1260,3,"0.677213894756849"]
["C4225155","ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",1260,3,"0.9095043682710268"]
["C4225178","SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",1260,3,"0.9095043682710268"]
["C0030293","Pancreatic Insufficiency",1257,3,"0.002670792483117292"]
["C0267963","Exocrine pancreatic insufficiency",1257,3,"0.5081381914199979","disease of anatomical entity"]
["C0554119","Pancreatic malabsorption",1257,3,"0.2519420493453454"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017","disease of metabolism"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978","disease of metabolism"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978","disease of anatomical entity"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","disease of anatomical entity"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792","disease of anatomical entity"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798","disease of anatomical entity"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0","disease of anatomical entity"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0","disease of anatomical entity"]
["C1969106","Osteopetrosis, Autosomal Recessive 4",1244,3,"0.5252547295447586","disease of anatomical entity"]
["C3179239","Osteopetrosis Autosomal Dominant Type 2",1244,3,"0.7759970358718379","disease of anatomical entity"]
["C3645711","Congenital Osteopetrosis",1244,3,"0.187607563636263","disease of anatomical entity"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","genetic disease"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525"]
["C4274118","Joubert syndrome with ocular defect",1238,3,"-0.04647399350109089"]
["C1851479","Keratoderma palmoplantaris transgrediens",1236,3,"1.0"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0","disease of anatomical entity"]
["C4509933","Peripheral neuropathy with sensorineural hearing impairment syndrome",1236,3,"1.0"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687","genetic disease"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","genetic disease"]
["C4310705","JOUBERT SYNDROME 28",1228,3,"0.9820205015404687","genetic disease"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","genetic disease"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","genetic disease"]
["C3280898","JOUBERT SYNDROME 9/15, DIGENIC",1227,3,"0.9452684881936295","genetic disease"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","genetic disease"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0","genetic disease"]
["C3150796","NEPHRONOPHTHISIS 11",1223,3,"1.0","genetic disease"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203","disease of anatomical entity"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587"]
["C3263719","Primary acquired melanosis",1217,3,"0.7860073215602715"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602","disease of metabolism"]
["C4304578","1p21.3 microdeletion syndrome",1204,3,"0.9948528701877237"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0","disease of anatomical entity"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0","disease of anatomical entity"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0","disease of anatomical entity"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677","disease of anatomical entity"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096","disease of anatomical entity"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413","disease of anatomical entity"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697","disease of metabolism"]
["C1865804","Peroxisome Biogenesis Disorder, Complementation Group E",1185,3,"0.8349919383499697"]
["C3151055","ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",1182,3,"0.9993123421193053","disease of anatomical entity"]
["C3502131","Adrenal Insufficiency, Congenital",1182,3,"0.9996563911001033"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","disease of anatomical entity"]
["C0432475","XX males",1177,3,"0.2239661574993518"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687","disease of anatomical entity"]
["C2931347","Cardiac form of generalized glycogenosis",1172,3,"1.0"]
["C3888924","Glycogen storage disease due to acid maltase deficiency, infantile onset",1172,3,"1.0"]
["C3888925","Pompe\\'s disease adult onset",1172,3,"1.0"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416","disease of metabolism"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264","disease of metabolism"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208","disease of metabolism"]
["C1832243","CARDIOMYOPATHY, DILATED, 1D (disorder)",1169,3,"1.0","disease of anatomical entity"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0","disease of anatomical entity"]
["C2676271","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)",1169,3,"1.0","disease of anatomical entity"]
["C0032027","Pityriasis Rubra Pilaris",1168,3,"0.9995933153685531","disease of anatomical entity"]
["C1304140","Familial psoriasis",1168,3,"0.9997966453559083"]
["C1864497","PSORIASIS 2",1168,3,"0.9997966453559083","disease of anatomical entity"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","disease of metabolism"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","disease of anatomical entity"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","disease of metabolism"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","disease of anatomical entity"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619","disease of metabolism"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619","disease of anatomical entity"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167","disease of metabolism"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939"]
["C0271528","Isosexual precocious puberty",1157,3,"1.0"]
["C3553841","HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA",1157,3,"1.0","disease of anatomical entity"]
["C3805879","PRECOCIOUS PUBERTY, CENTRAL, 1",1157,3,"1.0"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614","disease of mental health"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","disease of mental health"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","disease of anatomical entity"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614","disease of mental health"]
["C2749861","MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)",1148,3,"1.0","disease of metabolism"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0"]
["C3150172","MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)",1148,3,"1.0","disease of metabolism"]
["C2749862","Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",1147,3,"0.513921222372273"]
["C3501849","Mngie Without Leukoencephalopathy",1147,3,"0.8595560550091821"]
["C3711125","Mitochondrial DNA Depletion Syndrome 8A",1147,3,"0.8595560550091821"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968","disease of metabolism"]
["C4476617","Autonomic visceral myopathy",1146,3,"0.9424078499136811"]
["C4476618","Degenerative enteric myopathy",1146,3,"0.9424078499136811"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629","disease of anatomical entity"]
["C4015307","PERRAULT SYNDROME 5",1145,3,"0.9991926175330871"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176","physical disorder"]
["C3151221","TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3",1135,3,"0.5597699900588633","disease of anatomical entity"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148"]
["C1876171","Polyasplenia",1134,3,"1.0","physical disorder"]
["C1876172","VAH, AUTOSOMAL RECESSIVE",1134,3,"1.0","physical disorder"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0","physical disorder"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989","disease of cellular proliferation"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989","disease of anatomical entity"]
["C2981142","Refractory anemia, without ringed sideroblasts, without excess blasts",1132,3,"-0.19870393161390473"]
["C4015323","LEUKODYSTROPHY, HYPOMYELINATING, 9",1132,3,"0.4915720836967764","disease of anatomical entity"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","disease of anatomical entity"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","disease of anatomical entity"]
["C3279824","Kappa-Chain Deficiency",1130,3,"0.6549700904767264"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755","genetic disease"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315","genetic disease"]
["C3495489","Rieger eye malformation sequence",1127,3,"0.8584904938658368","genetic disease"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324","genetic disease"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178","genetic disease"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408","disease of anatomical entity"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408","disease of anatomical entity"]
["C4073107","Incomplete congenital stationary night blindness",1123,3,"0.9261056152559028"]
["C2677713","Ichthyosis, X-Linked, Complicated",1117,3,"0.9556819931915008"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345","genetic disease"]
["C4274085","Syndromic recessive X-linked ichthyosis",1117,3,"0.9556819931915008"]
["C1852759","Papillorenal syndrome",1115,3,"1.0","genetic disease"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0"]
["C4014925","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7",1115,3,"1.0","disease of anatomical entity"]
["C3553989","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",1112,3,"0.2772555109619926"]
["C4015635","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",1112,3,"0.5676995580102657","disease of anatomical entity"]
["C4310763","SPINOCEREBELLAR ATAXIA 43",1112,3,"0.10241334539682348"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0"]
["C4225183","BRACHYDACTYLY, TYPE A1, D",1111,3,"1.0","disease of anatomical entity"]
["C4225404","ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",1111,3,"1.0"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428","disease of anatomical entity"]
["C1300268","Brachydactyly syndrome type C",1110,3,"0.8229665189170458","disease of anatomical entity"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189","genetic disease"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0","disease of anatomical entity"]
["C3554446","BRACHYDACTYLY, TYPE A1, C",1109,3,"1.0","disease of anatomical entity"]
["C3809104","SYMPHALANGISM, PROXIMAL, 1B",1109,3,"1.0"]
["C0175700","Multiple synostosis syndrome",1107,3,"0.7230158543322864","disease of anatomical entity"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652","disease of anatomical entity"]
["C1861385","SYMPHALANGISM, PROXIMAL",1107,3,"0.28870098984799647"]
["C0263746","Osteoarthritis of the hand",1105,3,"0.2822629998150747"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266","disease of anatomical entity"]
["C0002873","Anemia of chronic disease",1103,3,"0.631678303791508"]
["C0034902","Pure Red-Cell Aplasia",1103,3,"0.8017850725574002","disease of anatomical entity"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998","disease of metabolism"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135","disease of anatomical entity"]
["C0151449","Primary SjÃ¶gren\\'s syndrome",1102,3,"0.04651040590251926"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784","disease of metabolism"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368","disease of metabolism"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368","disease of metabolism"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581","disease of anatomical entity"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857","disease of anatomical entity"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424","disease of anatomical entity"]
["C1843808","CARDIOMYOPATHY, DILATED, 1M",1090,3,"1.0","disease of anatomical entity"]
["C2677491","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",1090,3,"1.0","disease of anatomical entity"]
["C4025009","Impaired myocardial contractility",1090,3,"1.0"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776","syndrome"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776","disease of anatomical entity"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226"]
["C2932678","Inherited Peripheral Neuropathy",1084,3,"0.8785976404641749"]
["C1853995","SEIZURES, BENIGN FAMILIAL INFANTILE, 2",1081,3,"0.900833527316034","disease of anatomical entity"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536","disease of anatomical entity"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048"]
["C1868681","DYSTONIA 12",1080,3,"0.8881787002829464","disease of anatomical entity"]
["C3553788","ALTERNATING HEMIPLEGIA OF CHILDHOOD 2",1080,3,"0.8891807681023269","disease of anatomical entity"]
["C1865322","MIGRAINE, FAMILIAL HEMIPLEGIC, 2",1077,3,"0.9986309928846427","disease of anatomical entity"]
["C1865323","Migraine, Familial Basilar",1077,3,"0.9993483083046233","disease of anatomical entity"]
["C3549447","ALTERNATING HEMIPLEGIA OF CHILDHOOD 1",1077,3,"0.9993483083046233","disease of anatomical entity"]
["C0270860","Basilar-Type Migraine",1076,3,"0.25261010316084404","disease of anatomical entity"]
["C0270862","Hemiplegic migraine",1076,3,"0.5529862300163528"]
["C0338484","Familial Hemiplegic Migraine",1076,3,"0.2339266551635054","disease of anatomical entity"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345","disease of anatomical entity"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022","disease of anatomical entity"]
["C3280443","MYOPATHY, DISTAL, TATEYAMA TYPE",1075,3,"0.4566869391734209","disease of anatomical entity"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333","genetic disease"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836"]
["C1850096","Pancreatic Agenesis, Congenital",1069,3,"0.6717798979190753"]
["C0023213","Ventricular Outflow Obstruction, Left",1064,3,"1.0"]
["C0042512","Ventricular Outflow Obstruction",1064,3,"1.0"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0"]
["C0271714","Hypoglycemia, leucine-induced",1062,3,"1.0"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0","disease of metabolism"]
["C4274080","Autosomal dominant hyperinsulinism due to SUR1 deficiency",1062,3,"1.0"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388","disease of metabolism"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399","disease of metabolism"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","disease of metabolism"]
["C0085569","Metabolic acidosis, NAG, acidifying salts",1054,3,"0.8628476839644287"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","disease of anatomical entity"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221"]
["C0002891","Anemia, Neonatal",1052,3,"1.0","disease of anatomical entity"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0"]
["C2674219","SPHEROCYTOSIS, HEREDITARY, 2",1052,3,"1.0","disease of anatomical entity"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341"]
["C3151898","MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",1047,3,"0.5786318294775631"]
["C3278664","LIVER FAILURE, INFANTILE, TRANSIENT",1047,3,"-0.12010217163380388"]
["C0270855","Early myoclonic encephalopathy",1041,3,"0.4467736328480076","disease of anatomical entity"]
["C0752324","Focal Tonic Seizures",1041,3,"0.7361462163959118","disease of anatomical entity"]
["C4225360","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30",1041,3,"0.4283541506374561"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0","genetic disease"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0","syndrome"]
["C4014656","CARDIOMYOPATHY, DILATED, 1NN",1033,3,"1.0","disease of anatomical entity"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933","genetic disease"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916","disease of anatomical entity"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975","disease of anatomical entity"]
["C0002884","Hypochromic anemia",1030,3,"0.49288060004750484","disease of anatomical entity"]
["C2673913","Anemia, Hypochromic Microcytic, With Iron Overload",1030,3,"0.6277283849723938"]
["C3806153","ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",1030,3,"0.6686264157314609","disease of anatomical entity"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132","disease of cellular proliferation"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132","disease of anatomical entity"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409","disease of cellular proliferation"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409","disease of anatomical entity"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986","disease of cellular proliferation"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986","disease of anatomical entity"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","syndrome"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","genetic disease"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","disease of anatomical entity"]
["C0302486","Erythrophagocytosis",1019,3,"0.4640616262681068"]
["C1864648","CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",1019,3,"0.6594294626506643"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","disease of metabolism"]
["C0580190","3-Phosphoglycerate dehydrogenase deficiency",1008,3,"0.886596251260698"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","disease of metabolism"]
["C0432253","Bruck syndrome",1006,3,"0.7474477853062812"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272","syndrome"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523","syndrome"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0","disease of mental health"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0","disease of anatomical entity"]
["C0745186","hypoventilation syndrome",999,3,"1.0"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","genetic disease"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","disease of anatomical entity"]
["C0342162","Compensated hypothyroidism",993,3,"0.51635057976103"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545","disease of anatomical entity"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","disease of anatomical entity"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821","disease of anatomical entity"]
["C1744558","T-lymphocyte deficiency",990,3,"0.7941676321980821","disease of anatomical entity"]
["C3150700","MENTAL RETARDATION, AUTOSOMAL DOMINANT 20",985,3,"0.7274649641150404","disease of mental health"]
["C4225434","CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",985,3,"0.5370699789047225"]
["C4304529","5q14.3 microdeletion syndrome",985,3,"0.6635328148757683"]
["C2676727","Chromosome 1q43-Q44 Deletion Syndrome",984,3,"0.8780870026494487"]
["C3808184","MENTAL RETARDATION, AUTOSOMAL DOMINANT 22",984,3,"0.8161607633831922","disease of mental health"]
["C4273897","Distal monosomy 1q",984,3,"0.8426823480739919"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832","disease of anatomical entity"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333","disease of metabolism"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165","disease of anatomical entity"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026","disease of anatomical entity"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562","disease of metabolism"]
["C1261969","Type I hyperlipidaemia",978,3,"0.939650428157356"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356"]
["C1274228","Chylomicronemia syndrome",977,3,"0.1772955585516702"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897"]
["C4014767","HYPERLIPOPROTEINEMIA, TYPE ID",977,3,"-0.11687904109184909"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475","disease of metabolism"]
["C0029438","Massive Osteolyses",975,3,"0.9413069601199054","syndrome"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588","disease of metabolism"]
["C0002735","Oppenheim\\'s Disease",972,3,"0.6460526699610827","disease of anatomical entity"]
["C0027868","Neuromuscular Diseases",972,3,"0.5249161850635937","disease of anatomical entity"]
["C0751381","Foley-Denny-Brown Syndrome",972,3,"0.6460526699610827","disease of anatomical entity"]
["C0017536","Giardiasis",971,3,"0.7029823815844127","disease by infectious agent"]
["C0398562","Triose phosphate isomerase deficiency",971,3,"0.8154253186796703"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703","disease of metabolism"]
["C3809006","CARDIOFACIOCUTANEOUS SYNDROME 3",968,3,"-0.044681902698250266","syndrome"]
["C4073145","Hyperkeratosis pilaris",968,3,"0.6092016001181005"]
["C4225282","NOONAN SYNDROME 9",968,3,"0.3194107486488001","syndrome"]
["C1842675","AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)",959,3,"0.6233561816196592","disease of anatomical entity"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964"]
["C3539195","TREMOR, HEREDITARY ESSENTIAL, 4",959,3,"0.8203467912697964","disease of anatomical entity"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956","disease of anatomical entity"]
["C1997740","Segmental dystonia",950,3,"0.43799549855031084"]
["C2875058","Familial torsion dystonia",950,3,"0.5394380145597845","disease of anatomical entity"]
["C0154676","Organic writer\\'s cramp",948,3,"0.14318091640411917","disease of anatomical entity"]
["C1834570","Myoclonic dystonia",948,3,"0.5935597966934463","disease of anatomical entity"]
["C3697670","Spinal cord myoclonus",948,3,"0.5457101255958811"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063","disease of mental health"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063","genetic disease"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063","disease of anatomical entity"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906","genetic disease"]
["C4540439","RETINITIS PIGMENTOSA 80",937,3,"0.9560038819681063"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627","disease of anatomical entity"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435","disease of anatomical entity"]
["C1865643","Cholestasis, progressive familial intrahepatic 3",929,3,"0.9995862957698269","disease of anatomical entity"]
["C2609268","Low phospholipid-associated cholelithiasis",929,3,"0.9991717793595999","disease of anatomical entity"]
["C3554241","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",929,3,"0.9995862957698269","disease of anatomical entity"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989","disease of metabolism"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519","disease of metabolism"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519","disease of metabolism"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518","disease of anatomical entity"]
["C0409974","Lupus Erythematosus",921,3,"0.8960764006613194","disease of anatomical entity"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","syndrome"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","disease of anatomical entity"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344","disease of anatomical entity"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387","disease of anatomical entity"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967"]
["C4310613","POLYCYSTIC LIVER DISEASE 1",916,3,"0.28097223288324835"]
["C4310769","POLYCYSTIC LIVER DISEASE 2",916,3,"0.3010032353390605"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","genetic disease"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","disease of anatomical entity"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121"]
["C0267834","Liver cyst",915,3,"0.3012900130798916"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0","disease of anatomical entity"]
["C1847903","Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",914,3,"1.0"]
["C3809272","LETHAL CONGENITAL CONTRACTURE SYNDROME 5",914,3,"1.0"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0","disease of anatomical entity"]
["C2678476","Cardiomyopathy, Dilated, 1y",907,3,"1.0","disease of anatomical entity"]
["C3808145","LEFT VENTRICULAR NONCOMPACTION 9",907,3,"1.0","disease of anatomical entity"]
["C1836448","Nemaline myopathy 1",906,3,"1.0","disease of anatomical entity"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0"]
["C3714994","CAP MYOPATHY 1",906,3,"1.0","disease of anatomical entity"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006","disease of anatomical entity"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578","disease of anatomical entity"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309"]
["C1836447","Nemaline myopathy 4",904,3,"1.0","disease of anatomical entity"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0"]
["C3807907","CAP MYOPATHY 2",904,3,"1.0","disease of anatomical entity"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973","physical disorder"]
["C3150703","FRONTONASAL DYSPLASIA 2",899,3,"0.7487890370512973"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284","disease of anatomical entity"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385","disease of anatomical entity"]
["C3810041","ALZHEIMER DISEASE 18",897,3,"0.5402396229866435","disease of anatomical entity"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0"]
["C4024872","Progressive reticulate hyperpigmentation",896,3,"1.0"]
["C0343111","Naegeli syndrome",895,3,"1.0"]
["C3715082","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",895,3,"1.0","disease of anatomical entity"]
["C4021831","Hypohidrosis or hyperhidrosis",895,3,"1.0"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934","disease of metabolism"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934","disease of anatomical entity"]
["C2936861","Cortisol 11-beta-ketoreductase deficiency",893,3,"0.9460125033708048"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711","disease of anatomical entity"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885","disease of metabolism"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191","disease of metabolism"]
["C1855038","Hepatocellular necrosis",881,3,"0.7549663395038722"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","syndrome"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","disease of anatomical entity"]
["C0748540","Scleroderma, Limited",878,3,"0.8699461372542555","disease of anatomical entity"]
["C1258104","Diffuse Scleroderma",878,3,"0.7959991160811233","disease of anatomical entity"]
["C0406556","Hereditary acrokeratotic poikiloderma of Weary",875,3,"0.9998800359880042"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676","disease of anatomical entity"]
["C4024863","Diffuse skin atrophy",875,3,"0.9998800359880042"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231","disease of anatomical entity"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952"]
["C2678048","Spinocerebellar Ataxia, X-Linked 5",873,3,"0.12215868177455817"]
["C1852577","FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)",865,3,"0.7686061981518031"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","genetic disease"]
["C0339534","Usher syndrome type 2",864,3,"0.38304931576176277","genetic disease"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","genetic disease"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018","disease of anatomical entity"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","genetic disease"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0","disease of anatomical entity"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","genetic disease"]
["C1848639","USHER SYNDROME, TYPE IA, FORMERLY",861,3,"0.9812096156815548","genetic disease"]
["C1848640","USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY",861,3,"0.9812096156815548","genetic disease"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0","disease of anatomical entity"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","genetic disease"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0"]
["C0270736","Essential Tremor",852,3,"0.5464091227042035","disease of anatomical entity"]
["C0393615","Familial Tremor",852,3,"0.6111263431041652","disease of anatomical entity"]
["C3810400","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19",852,3,"0.08425671391134876"]
["C1836522","Schindler Disease, Type II",851,3,"1.0"]
["C1836544","Schindler Disease, Type I",851,3,"1.0"]
["C1836545","Schindler Disease, Type III",851,3,"1.0"]
["C0019099","Hemorrhagic Fever, Crimean",845,3,"0.8495692779949102","disease by infectious agent"]
["C2062416","Sindbis virus infection",845,3,"0.46344353527434035"]
["C4015293","IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION",845,3,"0.8495692779949102"]
["C0032461","Polycythemia",844,3,"0.3964866500659292","disease of anatomical entity"]
["C0152264","Familial erythrocytosis",844,3,"0.16401170177288724","disease of anatomical entity"]
["C1868945","Polyglobulia",844,3,"-0.04673501290061726"]
["C0268405","Hemodialysis-associated amyloidosis",843,3,"0.9995847969407822"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562"]
["C4302669","Autosomal dominant beta2-microglobulinic amyloidosis",843,3,"0.9995847969407822"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796","disease of anatomical entity"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143","disease of anatomical entity"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288","disease of anatomical entity"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151","genetic disease"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151","disease of anatomical entity"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","disease of anatomical entity"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","genetic disease"]
["C1861827","Cataract, Nuclear Diffuse Nonprogressive",835,3,"1.0"]
["C3805411","CATARACT 30",835,3,"1.0","disease of anatomical entity"]
["C4024821","Diffuse nuclear cataract",835,3,"1.0"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807","disease of metabolism"]
["C1533847","Disorder of skeletal muscle",833,3,"0.2552427363235237","disease of anatomical entity"]
["C1844917","Intermittent lactic acidemia",833,3,"0.7452101373728698"]
["C0036310","Scheuermann\\'s Disease",829,3,"0.4999999999999999","disease of anatomical entity"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982","syndrome"]
["C3553660","SOTOS SYNDROME 2",829,3,"0.8200569756647982","genetic disease"]
["C0339651","Horizontal gaze palsy",827,3,"0.9666845092685129"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558"]
["C2062713","Progressive ophthalmoplegia",827,3,"0.9666845092685129"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","disease of anatomical entity"]
["C1838114","Generalized limb muscle atrophy",823,3,"0.38499870284385157"]
["C3150802","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",823,3,"0.7245721207629258","disease of anatomical entity"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369","disease of metabolism"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006"]
["C0221207","Urticaria due to cold",814,3,"1.0"]
["C3280914","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3",814,3,"1.0","disease of anatomical entity"]
["C3553961","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",814,3,"1.0"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499","disease of anatomical entity"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688","disease of metabolism"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033","disease of anatomical entity"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175","disease of anatomical entity"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033","disease of anatomical entity"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","disease of anatomical entity"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","disease of anatomical entity"]
["C2930821","Keratitis sicca",798,3,"0.997567866970376"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177","disease of anatomical entity"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695","disease of anatomical entity"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138","disease of anatomical entity"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984","disease of anatomical entity"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557","disease of anatomical entity"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078","disease of anatomical entity"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183","disease of anatomical entity"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699","disease of anatomical entity"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699","disease of anatomical entity"]
["C1272174","Scotopic sensitivity",791,3,"1.0"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0","disease of anatomical entity"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0","disease of anatomical entity"]
["C0043167","Pertussis",785,3,"0.6912462089672032","disease by infectious agent"]
["C0043168","Whooping cough due to unspecified organism",785,3,"0.28291312439684885"]
["C4015695","LONG QT SYNDROME 15",785,3,"0.547801524240991","disease of anatomical entity"]
["C2750466","Cardiomyopathy, Dilated, 1EE",783,3,"1.0","disease of anatomical entity"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0","disease of anatomical entity"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0","disease of anatomical entity"]
["C0085612","Ventricular arrhythmia",782,3,"0.23372798040210413"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972","disease of anatomical entity"]
["C2063326","Right ventricular cardiomyopathy",782,3,"0.530577282276811"]
["C0694539","Chronic atrial fibrillation",776,3,"0.3908464338762619"]
["C3279693","ATRIAL FIBRILLATION, FAMILIAL, 11",776,3,"0.5675442384934412","disease of anatomical entity"]
["C4021885","Atrial cardiomyopathy",776,3,"0.5675442384934412"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","disease of metabolism"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","genetic disease"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","disease of metabolism"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","genetic disease"]
["C3714580","Hypokalemic periodic paralysis type 1",772,3,"0.6652086315805826","disease of metabolism"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047","disease of anatomical entity"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647","disease of anatomical entity"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307","disease of anatomical entity"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863","disease of anatomical entity"]
["C3151431","ATRIAL FIBRILLATION, FAMILIAL, 9",767,3,"0.8454787802995483","disease of anatomical entity"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609","disease of anatomical entity"]
["C2732979","Acquired long QT syndrome",766,3,"0.7226407697041758"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609","disease of anatomical entity"]
["C0264893","Nodal rhythm disorder",764,3,"0.9999999999999991","disease of anatomical entity"]
["C0348626","Other specified cardiac arrhythmias",764,3,"0.9999999999999991","disease of anatomical entity"]
["C1399226","Ectopic rhythm",764,3,"0.9999999999999991","disease of anatomical entity"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884","disease by infectious agent"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884","disease of anatomical entity"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868","disease by infectious agent"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868","disease of anatomical entity"]
["C0206525","Tuberculosis, Drug-Resistant",756,3,"0.6568205172927352","disease by infectious agent"]
["C0581384","Chronic anemia",753,3,"1.0"]
["C1142276","Renal anemia",753,3,"1.0"]
["C1442826","Neonatal necrotizing enterocolitis",753,3,"1.0","disease of anatomical entity"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785","disease of anatomical entity"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256","disease of anatomical entity"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806","disease of anatomical entity"]
["C0151860","Acquired porencephaly",739,3,"0.7212362652483564"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212","disease of anatomical entity"]
["C4082173","Porencephaly",739,3,"0.8350679879689631","disease of anatomical entity"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0","disease of anatomical entity"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0"]
["C0007194","Hypertrophic Cardiomyopathy",733,3,"0.22620869394767568","disease of anatomical entity"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078","disease of anatomical entity"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985","disease of anatomical entity"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195"]
["C3150909","D-2-HYDROXYGLUTARIC ACIDURIA 2",727,3,"0.3286182771296225","disease of metabolism"]
["C3152055","D-2-HYDROXYGLUTARIC ACIDURIA 1",727,3,"0.5957431952119965","disease of metabolism"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","syndrome"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","disease of anatomical entity"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298","syndrome"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298","disease of anatomical entity"]
["C3553958","METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA",726,3,"0.6091163941300523"]
["C0263627","Calcinosis universalis",720,3,"0.9898149399542363"]
["C0282102","Chondrodysplasia punctata, X-linked dominant type",720,3,"0.9758431221748454","genetic disease"]
["C4085243","MEND SYNDROME",720,3,"0.9898149399542363"]
["C1290587","Failure of tooth eruption",719,3,"1.0"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0"]
["C1852222","Failure of Tooth Eruption, Primary",719,3,"1.0"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548"]
["C3670629","Orthokeratotic hyperkeratosis",715,3,"0.6939368978354226"]
["C0017612","Glaucoma, Open-Angle",706,3,"0.9176231352915618","disease of anatomical entity"]
["C0271148","Secondary Open Angle Glaucoma",706,3,"0.9130639727499217","disease of anatomical entity"]
["C0339573","Glaucoma, Primary Open Angle",706,3,"0.8729406052878422","disease of anatomical entity"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995","disease of metabolism"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356","disease of metabolism"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356","disease of metabolism"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523","disease of anatomical entity"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523","disease of anatomical entity"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542","disease of anatomical entity"]
["C1408174","Hypertrophic neuropathy of infancy",689,3,"0.9999999999999986","disease of anatomical entity"]
["C1408182","Hereditary motor and sensory neuropathy, types I-IV",689,3,"0.9999999999999986","disease of anatomical entity"]
["C2875300","Peroneal muscular atrophy (axonal type) (hypertrophic type)",689,3,"0.9999999999999986","disease of anatomical entity"]
["C0265010","Ruptured thoracic aortic aneurysm",684,3,"1.0","disease of anatomical entity"]
["C0265012","Ruptured abdominal aortic aneurysm",684,3,"1.0","disease of anatomical entity"]
["C1305122","Thoracoabdominal aortic aneurysm, ruptured",684,3,"1.0","disease of anatomical entity"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548","disease of anatomical entity"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213","disease of anatomical entity"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213","disease of anatomical entity"]
["C3279664","Emberger syndrome",675,3,"1.0"]
["C3280030","GATA2 Deficiency",675,3,"1.0"]
["C3711382","Familial Acute Myeloid Leukemia with Mutated Cebpa",675,3,"1.0"]
["C0030481","Tropical Spastic Paraparesis",669,3,"0.7825710467700424","disease by infectious agent"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828","disease of anatomical entity"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828","disease of anatomical entity"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","disease of anatomical entity"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","disease of anatomical entity"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","disease of anatomical entity"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175","disease of anatomical entity"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169"]
["C4304725","Leber plus disease",666,3,"0.694539227517883"]
["C0031111","Periostitis",665,3,"0.9913935913667882","disease of anatomical entity"]
["C0524988","Schnitzler Syndrome",665,3,"0.9888710994603438","disease of anatomical entity"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","disease of anatomical entity"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","disease of anatomical entity"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","disease of anatomical entity"]
["C0268618","Cystathioninemia",651,3,"0.6261277013972278"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349","disease of metabolism"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095","disease of metabolism"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035","disease of anatomical entity"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708","disease of metabolism"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008","disease of anatomical entity"]
["C0002874","Aplastic Anemia",649,3,"0.5901995607011472","disease of anatomical entity"]
["C0178416","Hypoplastic anemia",649,3,"0.6198763860470586","disease of anatomical entity"]
["C0348890","Aplastic anemia, idiopathic",649,3,"0.45142364766888704"]
["C0038605","Subungual hyperkeratosis",647,3,"0.12349593724483938"]
["C2609071","Olmsted syndrome",647,3,"0.6115441670349493"]
["C4225339","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",647,3,"0.6389246684184573"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234","syndrome"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879","disease of anatomical entity"]
["C4024788","Anterior chamber synechiae",645,3,"0.6250101944893658"]
["C0022904","Lacrimal Apparatus Diseases",644,3,"0.776674791710952","disease of anatomical entity"]
["C0152227","Excessive tearing",644,3,"0.5102236067263464","disease of anatomical entity"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952"]
["C4225370","MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",635,3,"1.0","disease of anatomical entity"]
["C4225371","MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",635,3,"1.0","disease of anatomical entity"]
["C4225372","MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",635,3,"1.0","disease of anatomical entity"]
["C0004782","Basal Ganglia Diseases",628,3,"0.8582926301108811","disease of anatomical entity"]
["C0015371","Extrapyramidal Disorders",628,3,"0.7655680214129266","disease of anatomical entity"]
["C0750951","Lenticulostriate Disorders",628,3,"0.8643775304349076","disease of anatomical entity"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249","disease of anatomical entity"]
["C2931035","Pulmonary alveolar proteinosis, congenital",622,3,"0.7010064470016536"]
["C3280574","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",622,3,"0.3343465929888127","disease of anatomical entity"]
["C0014078","Venezuelan equine encephalomyelitis",620,3,"0.6221572821299786","disease by infectious agent"]
["C0275524","Coinfection",620,3,"0.37299630712862025"]
["C0276623","Chronic viral hepatitis",620,3,"0.6052393843629835"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","genetic disease"]
["C4310667","ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",616,3,"0.9995469127726716"]
["C0342495","Macronodular adrenal hyperplasia",614,3,"0.5687111613923593"]
["C1857451","Acth-Independent Macronodular Adrenal Hyperplasia",614,3,"-0.05936912691847838"]
["C4014803","ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2",614,3,"0.6554777932173166"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663","disease of anatomical entity"]
["C3280402","SCLEROSTEOSIS 2",604,3,"0.9092710230453434","disease of anatomical entity"]
["C4225377","MYASTHENIC SYNDROME, CONGENITAL, 17",604,3,"0.9092710230453434","disease of anatomical entity"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","disease of metabolism"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","disease of anatomical entity"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764","disease of metabolism"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741","disease of metabolism"]
["C0038522","Subacute Sclerosing Panencephalitis",597,3,"0.7063493783066593","disease by infectious agent"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035","disease of anatomical entity"]
["C0156221","Acute glomerulonephritis",597,3,"0.7890951737804504"]
["C1863534","Stargardt disease 4",590,3,"0.7923232625833374","disease of anatomical entity"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357","disease of anatomical entity"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357","disease of anatomical entity"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","disease of anatomical entity"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894","disease of anatomical entity"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782","disease of anatomical entity"]
["C0032269","Pneumococcal Infections",588,3,"0.2159556364799022"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705"]
["C1843256","IRAK4 Deficiency",588,3,"-0.14411104728402485"]
["C1862937","AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1",582,3,"0.7179597827326383"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975","disease of anatomical entity"]
["C1838644","Stargardt disease 3",578,3,"0.8897922138617702","disease of anatomical entity"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565","disease of anatomical entity"]
["C3280856","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",578,3,"0.9630267096025565"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448","disease of anatomical entity"]
["C3552227","ACHROMATOPSIA 6",577,3,"0.8575898266315448","disease of anatomical entity"]
["C3665342","Progressive cone degeneration",577,3,"0.7549496193588813"]
["C0242852","Proliferative vitreoretinopathy",576,3,"0.8723962637600372","disease of anatomical entity"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777"]
["C1850109","Vitreoretinopathy",576,3,"0.5911328219081341"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728","genetic disease"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803","disease of anatomical entity"]
["C1960459","Hereditary angioedema with normal C1 esterase inhibitor activity",561,3,"0.9853275367424803"]
["C0398775","Hereditary C1 esterase inhibitor deficiency - deficient factor",558,3,"1.0"]
["C0398776","Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",558,3,"1.0"]
["C1852700","Complement Component 4, Partial Deficiency Of",558,3,"1.0"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456","disease of anatomical entity"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576","disease of anatomical entity"]
["C0342191","Familial dyshormonogenetic goiter",552,3,"0.862527491884882"]
["C0342194","Thyroid Dyshormonogenesis 3",552,3,"0.7827759616504689","disease of anatomical entity"]
["C1321809","HYPOTHYROIDISM, GOITROUS",552,3,"0.29301253514214554"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107","genetic disease"]
["C0345244","Neuronal intestinal dysplasia",551,3,"0.9599060098797502"]
["C0878627","Mucosal neuromas",551,3,"0.9599060098797502"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655","disease of metabolism"]
["C4020801","Respiratory complex II deficiency",543,3,"0.7038195613641884"]
["C4025278","Stress/infection-induced lactic acidosis",543,3,"0.8029417514500117"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","syndrome"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884"]
["C3887743","WILMS TUMOR 2",535,3,"0.9993422950979884"]
["C0521648","Neonatal respiratory failure",534,3,"1.0","disease of anatomical entity"]
["C1970456","Surfactant Metabolism Dysfunction, Pulmonary, 3",534,3,"1.0","disease of anatomical entity"]
["C3161105","Neuroendocrine cell hyperplasia of infancy",534,3,"1.0"]
["C0400914","Acute hepatitis C",531,3,"0.6261110645443679"]
["C3887641","Recurrent hepatitis",531,3,"0.49895779289241626","disease of anatomical entity"]
["C4288963","Hepatitis C Virus Infection",531,3,"0.3365397970214199"]
["C3714932","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",518,3,"0.7035716343580917","disease of anatomical entity"]
["C3809216","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",518,3,"0.6580359225190742","disease of anatomical entity"]
["C3809221","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14",518,3,"0.8170220017721667","disease of anatomical entity"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432","disease of anatomical entity"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837","disease of anatomical entity"]
["C3150413","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",515,3,"0.7043975488648069","disease of anatomical entity"]
["C3150411","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",514,3,"0.6411331857370002","disease of anatomical entity"]
["C3150416","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2",514,3,"0.807506899125178","disease of anatomical entity"]
["C3150418","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",514,3,"0.6914998959080981","disease of anatomical entity"]
["C1969024","CARDIOMYOPATHY, DILATED, 1X",512,3,"0.9366599214634904","disease of anatomical entity"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904","disease of anatomical entity"]
["C2751052","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4",512,3,"0.8331274404615924","disease of anatomical entity"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976"]
["C0085652","Pyoderma Gangrenosum",500,3,"0.6918009783286836","disease of anatomical entity"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383"]
["C0025289","Meningitis",488,3,"0.4054667660952955","disease of anatomical entity"]
["C0030167","Pachymeningitis",488,3,"0.5842891022745549","disease of anatomical entity"]
["C0085396","Neisseriaceae Infections",488,3,"0.36184227237429056"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452"]
["C0238339","Hereditary pancreatitis",482,3,"0.679838830712387"]
["C4080064","Autosomal Dominant Hereditary Pancreatitis",482,3,"0.5804737220382183"]
["C0340100","High altitude pulmonary edema",473,3,"0.9623565415098887"]
["C0340552","High altitude pulmonary hypertension",473,3,"0.9820151197518853"]
["C3810403","MOYAMOYA DISEASE 6 WITH ACHALASIA",473,3,"0.9820151197518853","disease of anatomical entity"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669","disease of anatomical entity"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078","disease of anatomical entity"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485","disease of anatomical entity"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615","genetic disease"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184","genetic disease"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039","genetic disease"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0"]
["C3541474","ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",458,3,"1.0"]
["C0016052","Fibromuscular Dysplasia",452,3,"0.9238496277384697"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647","disease of anatomical entity"]
["C2315541","Diverticulum of renal calyx",452,3,"0.9238496277384697"]
["C2751316","Glaucoma 3, Primary Congenital, D",447,3,"1.0","disease of anatomical entity"]
["C3538951","MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",447,3,"1.0"]
["C3553785","WEILL-MARCHESANI SYNDROME 3",447,3,"1.0","genetic disease"]
["C0339578","Corticosteroid-induced glaucoma",445,3,"0.8538617180604857","disease of anatomical entity"]
["C1842028","GLAUCOMA 1, OPEN ANGLE, A",445,3,"0.5674554783513097","disease of anatomical entity"]
["C4068743","Juvenile open angle",445,3,"0.9064004855289406"]
["C1856439","GLAUCOMA 3, PRIMARY CONGENITAL, A",444,3,"0.2380619977083376","disease of anatomical entity"]
["C2981140","Glaucoma of childhood",444,3,"0.41241971712338665","disease of anatomical entity"]
["C3278153","GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",444,3,"0.7011851234458101","disease of anatomical entity"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","disease of metabolism"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217","disease of metabolism"]
["C4015146","RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES",435,3,"0.998645617247303"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165","disease of metabolism"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398","disease of metabolism"]
["C2677774","Age-Related Macular Degeneration type 11",433,3,"0.7150800102457622","disease of anatomical entity"]
["C1704299","Hypobetalipoproteinemia, Familial, Apolipoprotein B",432,3,"0.9924597476952364","disease of metabolism"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181","disease of metabolism"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181","disease of anatomical entity"]
["C3888316","Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B",432,3,"0.9924597476952364"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225","disease of metabolism"]
["C0268323","Familial porphyria cutanea tarda",429,3,"0.9461494793810225","disease of metabolism"]
["C0342861","Uroporphyrinogen decarboxylase deficiency",429,3,"0.8874155545355793","disease of metabolism"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0","disease of anatomical entity"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0","disease of anatomical entity"]
["C0856742","Post MI",423,3,"0.6130718739759924"]
["C1959859","Acute lyme disease",423,3,"0.7717929577686702"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702"]
["C1864851","Pigmented Nodular Adrenocortical Disease, Primary, 2",422,3,"0.4005477155037526","disease of anatomical entity"]
["C4025760","Primary hypercorticolism",422,3,"0.4160512167133256"]
["C4304832","Primary pigmented nodular adrenocortical disease",422,3,"0.41926813142409314"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743","disease of anatomical entity"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364"]
["C2675059","Refractory macrocytic anemia",401,3,"0.7833326365550884"]
["C0391816","Tietz syndrome",396,3,"1.0","genetic disease"]
["C1860339","WAARDENBURG SYNDROME, TYPE IIA",396,3,"1.0","genetic disease"]
["C4310625","COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",396,3,"1.0"]
["C0221228","Comedone",388,3,"0.2997783391966423"]
["C3280309","ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",388,3,"0.8370005939492603"]
["C4310760","LETHAL CONGENITAL CONTRACTURE SYNDROME 10",388,3,"0.8370005939492603"]
["C1843181","Noonan syndrome-like disorder with loose anagen hair",386,3,"1.0"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0"]
["C4478716","NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1",386,3,"1.0"]
["C1969342","PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",383,3,"0.9868324341050282","disease of anatomical entity"]
["C1969343","Pulmonary Hypertension, Primary, Fenfluramine-Associated",383,3,"0.993366345217903","disease of anatomical entity"]
["C3714844","Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",383,3,"0.993366345217903","disease of anatomical entity"]
["C0456702","Severe childhood autosomal recessive muscular dystrophy",372,3,"0.5271687596976515"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","disease of anatomical entity"]
["C0085077","Sweet Syndrome",367,3,"0.953678479718495"]
["C0472762","Alpha trait thalassemia",367,3,"0.818970631667975"]
["C4016158","ALPHA-THALASSEMIA, HMONG TYPE",367,3,"0.953678479718495"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603"]
["C2873756","Severe beta thalassemia",365,3,"0.9386566716242557","genetic disease"]
["C3665425","Hemoglobin M Disease",365,3,"0.9317457366317579"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897","disease of anatomical entity"]
["C0472767","Beta thalassemia intermedia",364,3,"0.1724637368799377"]
["C4274391","Dominant beta-thalassemia",364,3,"0.6207944424505132"]
["C4290090","diabetes (mellitus) due to autoimmune process",360,3,"0.9999999999999989","disease of metabolism"]
["C4290091","diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction",360,3,"0.9999999999999989","disease of metabolism"]
["C4290092","idiopathic diabetes (mellitus)",360,3,"0.9999999999999989","disease of metabolism"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0"]
["C4084823","MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",355,3,"1.0","disease of anatomical entity"]
["C4225405","MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",355,3,"1.0","disease of anatomical entity"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674","syndrome"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674","disease of anatomical entity"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225","disease of mental health"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225","disease of anatomical entity"]
["C1838313","Pick Complex",345,3,"0.6843124998593689","disease of mental health"]
["C1838313","Pick Complex",345,3,"0.6843124998593689","disease of anatomical entity"]
["C0038368","Stomatognathic Diseases",342,3,"0.9999999999999989"]
["C1704330","Dental Diseases",342,3,"0.9999999999999989","disease of anatomical entity"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989"]
["C0271846","Familial hyperparathyroidism",335,3,"0.6671952657434286","disease of anatomical entity"]
["C1840402","HYPERPARATHYROIDISM 1",335,3,"0.4071805099846771","disease of anatomical entity"]
["C1864729","HYPERPARATHYROIDISM 3",335,3,"0.6642752246845705"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0","genetic disease"]
["C2609259","Symphysis Pubis Dysfunction",334,3,"1.0"]
["C4310807","BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME",334,3,"1.0","genetic disease"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862","disease of anatomical entity"]
["C1832648","Hypoparathyroidism familial isolated",331,3,"0.8584214123250228","disease of anatomical entity"]
["C1840334","Hypoparathyroidism, Autosomal Recessive",331,3,"0.7384861939472478","disease of anatomical entity"]
["C1843244","EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2",325,3,"0.7528190837205182"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107","disease of anatomical entity"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085","disease of anatomical entity"]
["C0751122","Infantile Severe Myoclonic Epilepsy",322,3,"0.18096337931088682","disease of anatomical entity"]
["C0752323","Focal Clonic Seizures",322,3,"0.6149643692687011","disease of anatomical entity"]
["C4023511","Obtundation status",322,3,"0.6649472954377083"]
["C2748541","Brugada Syndrome 5",320,3,"1.0","disease of anatomical entity"]
["C3809311","ATRIAL FIBRILLATION, FAMILIAL, 13",320,3,"1.0","disease of anatomical entity"]
["C4479236","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52",320,3,"1.0"]
["C1853345","Generalized Epilepsy With Febrile Seizures Plus, Type 4",319,3,"0.9558758559257231"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022","disease of anatomical entity"]
["C3151191","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",319,3,"0.9558758559257231"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248","disease of anatomical entity"]
["C2748518","Lumbar scoliosis",313,3,"0.5772452536497906"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","disease of metabolism"]
["C0342541","Precocious pubarche",312,3,"0.4262996437255822"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0","genetic disease"]
["C4014962","FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG",311,3,"1.0"]
["C4274078","Hyperinsulinism due to HNF4A deficiency",311,3,"1.0"]
["C1709353","Osteofibrous Dysplasia",310,3,"0.996624613942208"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486"]
["C4084709","DEAFNESS, AUTOSOMAL RECESSIVE 97",310,3,"0.998311106158486","disease of anatomical entity"]
["C0019372","Herpesviridae Infections",303,3,"0.5875335653359417"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422"]
["C0037140","B Virus Infection",303,3,"0.5876875690390145"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754","disease of anatomical entity"]
["C3807295","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",301,3,"0.8967891029535924","disease of anatomical entity"]
["C0796122","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome",300,3,"0.027748819518484326"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968","disease of anatomical entity"]
["C3280168","NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",299,3,"0.1466285677888863","disease of anatomical entity"]
["C3280283","MENTAL RETARDATION, AUTOSOMAL DOMINANT 9",299,3,"0.5955823061584353","disease of mental health"]
["C1839602","Neuropathy, Hereditary Sensory, X-Linked",297,3,"1.0"]
["C1842586","Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",297,3,"1.0"]
["C1850384","Neuropathy, Hereditary Sensory, Atypical",297,3,"1.0"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447","disease of anatomical entity"]
["C0751540","Morvan\\'s Disease",293,3,"0.7890591451917791"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441","disease of anatomical entity"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941","disease of anatomical entity"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323","disease of anatomical entity"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707","disease of anatomical entity"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","disease of anatomical entity"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796","disease of anatomical entity"]
["C3875161","Anterior pituitary hormone deficiency",284,3,"0.7666949360137796"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","disease of anatomical entity"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136","disease of anatomical entity"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673","disease of anatomical entity"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","disease of anatomical entity"]
["C0342384","Idiopathic hypogonadotropic hypogonadism",275,3,"0.17421961945359982","disease of anatomical entity"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108","disease of anatomical entity"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513","disease of anatomical entity"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394","disease of anatomical entity"]
["C0269209","Hydrometrocolpos",272,3,"0.4693343490007862"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573","genetic disease"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0","disease of anatomical entity"]
["C1863371","BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY",271,3,"1.0"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015","disease of anatomical entity"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595"]
["C0010930","Dacryocystitis",267,3,"0.7173204998084639","disease of anatomical entity"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","genetic disease"]
["C0948060","Iridocele",267,3,"0.8255745980932205"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975"]
["C0149877","Hypoglycemic encephalopathy",264,3,"1.0"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0"]
["C1864948","Hyperinsulinemic Hypoglycemia, Familial, 4",264,3,"1.0","disease of metabolism"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853"]
["C3554449","MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",260,3,"0.8375518442369936","disease of mental health"]
["C4539767","EXUDATIVE VITREORETINOPATHY 7",260,3,"0.9367837382438853"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","syndrome"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","genetic disease"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","disease of anatomical entity"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655","syndrome"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031","genetic disease"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881","genetic disease"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178","genetic disease"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","disease of cellular proliferation"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","disease of anatomical entity"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849"]
["C4085252","PAGET DISEASE OF BONE 3",250,3,"1.0","disease of anatomical entity"]
["C4225326","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3",250,3,"1.0","disease of anatomical entity"]
["C4310693","NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",250,3,"1.0"]
["C1963905","Infantile free sialic acid storage disease",249,3,"1.0"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0"]
["C2931872","Free sialic acid storage disease",249,3,"1.0"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536","disease of anatomical entity"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706","disease of anatomical entity"]
["C2931471","Sialuria, French type",246,3,"0.7348478907662926"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","disease of anatomical entity"]
["C0559470","Allergy to peanuts",245,3,"0.938525446752615","disease of anatomical entity"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0","physical disorder"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0"]
["C4274307","Hypoplastic tibia and postaxial polydactyly syndrome",238,3,"1.0"]
["C0022783","Vulvar Lichen Sclerosus",232,3,"0.7311292287761382","disease of anatomical entity"]
["C0023652","Lichen Sclerosus et Atrophicus",232,3,"0.56220929744473","disease of cellular proliferation"]
["C0950124","Disease due to Papilloma virus",232,3,"0.43494557468927125"]
["C1832814","Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant",230,3,"1.0"]
["C3806402","EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION",230,3,"1.0","disease of anatomical entity"]
["C3806403","Continuous spike and waves during slow sleep",230,3,"1.0","disease of anatomical entity"]
["C0343047","Complement component 5 deficiency",226,3,"1.0","disease of anatomical entity"]
["C3810402","ECULIZUMAB, POOR RESPONSE TO",226,3,"1.0"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0"]
["C0010246","Coxsackievirus Infections",223,3,"0.39862949737194436"]
["C0027059","Myocarditis",223,3,"0.31942533247535854","disease of anatomical entity"]
["C0869523","Carditis",223,3,"0.5032068956524463","disease of anatomical entity"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926"]
["C0796224","MENTAL RETARDATION, X-LINKED 18",220,3,"0.78215150987722","disease of mental health"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005","disease of mental health"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366","genetic disease"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077"]
["C3888244","AICARDI-GOUTIERES SYNDROME 7",209,3,"0.652794315815637","genetic disease"]
["C4225427","SINGLETON-MERTEN SYNDROME 1",209,3,"0.8288622551983255"]
["C0456097","Congenital viral disease",207,3,"0.9610102910404928"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823","genetic disease"]
["C3280721","CHILBLAIN LUPUS 2",207,3,"0.9610102910404928","disease of anatomical entity"]
["C0393591","AICARDI-GOUTIERES SYNDROME",205,3,"0.6241787237771206"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303","genetic disease"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152","genetic disease"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253","disease of anatomical entity"]
["C2919166","Autosomal dominant focal segmental glomerulosclerosis",195,3,"0.6037754305541225"]
["C4049702","Focal Segmental Glomerulosclerosis, Not Otherwise Specified",195,3,"-0.09030889677372743"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844","disease of anatomical entity"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843","disease of anatomical entity"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901","disease of anatomical entity"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364","disease of anatomical entity"]
["C3715156","AMYOTROPHIC LATERAL SCLEROSIS 20",187,3,"0.9389039000347364","disease of anatomical entity"]
["C3809469","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3",187,3,"0.7697707142525831","syndrome"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","syndrome"]
["C3151403","AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA",186,3,"0.8640737966493615","disease of anatomical entity"]
["C4225244","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",186,3,"0.8640737966493615","disease of anatomical entity"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0","disease by infectious agent"]
["C2930826","Acute malaria",175,3,"1.0"]
["C3825986","Meningitis in children",175,3,"1.0"]
["C3151443","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",171,3,"1.0","disease of anatomical entity"]
["C3151444","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4",171,3,"1.0","disease of anatomical entity"]
["C3553617","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1",171,3,"1.0"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915","disease of anatomical entity"]
["C0034535","Radiation Syndrome",168,3,"0.7596362438178388"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388","syndrome"]
["C0003969","Ascorbic Acid Deficiency",164,3,"0.9765319805014785","disease of metabolism"]
["C3279786","ANHAPTOGLOBINEMIA",164,3,"0.9539726447270853"]
["C3279787","HYPOHAPTOGLOBINEMIA (disorder)",164,3,"0.9765319805014785"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813","disease of anatomical entity"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559"]
["C3714757","Juvenile rheumatoid arthritis",149,3,"0.2129721415189397"]
["C0264969","Aneurysm of celiac artery",146,3,"1.0"]
["C0742747","High-output congestive heart failure",146,3,"1.0"]
["C4023119","Mesenteric artery aneurysm",146,3,"1.0"]
["C0029804","Other specified hemorrhagic conditions",143,3,"0.9684189356577974","disease of anatomical entity"]
["C0340804","Hereditary vascular fragility",143,3,"0.9684189356577974","disease of anatomical entity"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544","disease of anatomical entity"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015","genetic disease"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394"]
["C3806737","DEAFNESS, X-LINKED 6",141,3,"0.329413822965663","disease of anatomical entity"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775","genetic disease"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685","genetic disease"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","genetic disease"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339","genetic disease"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207","disease of anatomical entity"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126","disease of anatomical entity"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891","disease of anatomical entity"]
["C0035579","Rickets",126,3,"0.26626137724990145","disease of anatomical entity"]
["C0221468","Vitamin D-dependent rickets",126,3,"0.5233397422833072","disease of anatomical entity"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","disease of anatomical entity"]
["C0023283","Leishmaniasis, Cutaneous",123,3,"0.984115708481451","disease by infectious agent"]
["C0086540","Leishmaniasis, New World",123,3,"0.9930968578826108","disease by infectious agent"]
["C0086541","Urban cutaneous leishmaniasis",123,3,"0.9930968578826108","disease by infectious agent"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298","disease of metabolism"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881","disease of metabolism"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249","disease of metabolism"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861","disease of anatomical entity"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057"]
["C0024205","Lymphadenitis",113,3,"0.8360195077066253","disease of anatomical entity"]
["C1837023","CATARACT, CONGENITAL, CERULEAN TYPE, 3",111,3,"1.0","disease of anatomical entity"]
["C3540850","CATARACT 4, MULTIPLE TYPES",111,3,"1.0","disease of anatomical entity"]
["C3888390","Cataract, Punctate, Progressive Juvenile-Onset",111,3,"1.0","disease of anatomical entity"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048"]
["C0014179","Endometritis",110,3,"0.9940982941196048","disease of anatomical entity"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347"]
["C0157917","Pauciarticular juvenile rheumatoid arthritis",106,3,"0.31631902783291815","disease of anatomical entity"]
["C0221052","Chronic berylliosis",106,3,"0.5959839981607429"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174"]
["C0014324","Entamoebiasis",100,3,"0.6206861661801247"]
["C0151332","Active tuberculosis",100,3,"0.2215154056623684"]
["C4316791","Entamoeba histolytica Infection",100,3,"0.6206861661801247","disease by infectious agent"]
["C0001828","Agricultural Workers\\' Diseases",97,3,"1.0"]
["C0019112","Hemorrhoids",97,3,"1.0","disease of anatomical entity"]
["C0282550","Persian Gulf Syndrome",97,3,"1.0","syndrome"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673","disease of anatomical entity"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079","disease of anatomical entity"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379","disease of anatomical entity"]
["C0149642","Cervical lymphadenitis",89,3,"0.7173049458911258","disease of anatomical entity"]
["C0149896","Primary gout",89,3,"0.7173049458911258"]
["C3890737","Autoinflammatory Syndrome",89,3,"0.4265838371316969"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345","disease of anatomical entity"]
["C1761613","Conjunctival hyperemia",85,3,"0.9814759996404766","disease of anatomical entity"]
["C0015974","Periodic fever",84,3,"0.3318934246371938"]
["C3889136","Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome",84,3,"0.6241137905432769"]
["C4268691","Tumor necrosis factor receptor associated periodic syndrome [TRAPS]",84,3,"0.4331845087088078"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584","disease of anatomical entity"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543","disease of anatomical entity"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317","disease of anatomical entity"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393","disease of anatomical entity"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038"]
["C0023348","Leprosy, Lepromatous",77,3,"0.6627451881489584","disease by infectious agent"]
["C0868908","Pancolitis",77,3,"0.8013174836134267"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904","syndrome"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904","genetic disease"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286","disease of anatomical entity"]
["C1845604","Recurrent bacterial meningitis",72,3,"0.7930087106074266"]
["C0003615","Appendicitis",68,3,"0.9963609431550348","disease of anatomical entity"]
["C0729531","Viral respiratory infection",68,3,"0.9981758517332591"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583","disease of anatomical entity"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464","disease of anatomical entity"]
["C1863053","Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy",65,3,"0.9798736161185492"]
["C3549448","ALZHEIMER DISEASE, PROTECTION AGAINST",65,3,"0.9798736161185492"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334"]
["C0029400","Osteitis",60,3,"0.49661527345423834","disease of anatomical entity"]
["C0263680","Chronic arthritis",60,3,"0.6693095654728507"]
["C2936258","Peri-Implantitis",60,3,"0.6270184777239977"]
["C0029877","Ear Inflammation",57,3,"0.27129105829368555"]
["C0340170","Complicated pneumoconiosis",57,3,"0.20204941957775405"]
["C0699744","Infection of ear",57,3,"0.13495340606489006","disease of anatomical entity"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181","disease of anatomical entity"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665"]
["C0836924","Thrombocytosis",48,3,"0.5811053997945733","disease of anatomical entity"]
["C4273671","Inherited predisposition to essential thrombocythemia",48,3,"0.5768411149998041"]
["C4303761","Familial thrombocytosis",48,3,"0.6496419973713721"]
["C0002351","Altitude Sickness",45,3,"1.0"]
["C2673187","Erythrocytosis, Familial, 4",45,3,"1.0"]
["C4045968","Altitude Hypoxia",45,3,"1.0"]
["C0002063","Alkalosis",40,3,"0.5576724577582384"]
["C0597854","renin induced hypertension",40,3,"0.5829787159870976"]
["C1397307","Cardiac fibrosis",40,3,"0.48008148630983444"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0","disease of anatomical entity"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0","disease of anatomical entity"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0","disease of anatomical entity"]
["C0030807","Pemphigus",30,3,"0.5529733602232959","disease of anatomical entity"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895","disease of anatomical entity"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965","disease of anatomical entity"]
["C1332655","C3 DEFICIENCY",29,3,"1.0","disease of anatomical entity"]
["C1969651","Macular Degeneration, Age-Related, 9",29,3,"1.0","disease of anatomical entity"]
["C3151071","COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",29,3,"1.0","disease of anatomical entity"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996","disease of anatomical entity"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296"]
["C4479260","AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",5,3,"0.5695994785299975"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","disease of metabolism"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","disease of anatomical entity"]
["C1970051","METABOLIC SYNDROME, PROTECTION AGAINST",0,3,"0.6496303960143336"]
["C2930930","Abdominal obesity metabolic syndrome",0,3,"0.18983250123983675","disease of metabolism"]
["C1850985","Fragile Site 16p12",2198,2,"1.0"]
["C3149276","CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",2198,2,"1.0","genetic disease"]
["C0796218","MENTAL RETARDATION, X-LINKED 12",2196,2,"1.0"]
["C0796242","MENTAL RETARDATION, X-LINKED 35",2196,2,"1.0"]
["C0600336","Subcorneal pustular dermatosis",2195,2,"1.0","disease of anatomical entity"]
["C1274167","IgA pemphigus",2195,2,"1.0"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0","disease of anatomical entity"]
["C4310730","TOOTH AGENESIS, SELECTIVE, 8",2194,2,"1.0"]
["C0149756","Fasciitis, Plantar",2193,2,"1.0","disease of anatomical entity"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0","disease of anatomical entity"]
["C4014291","OOCYTE MATURATION DEFECT 1",2191,2,"0.8716015596375228"]
["C4540205","OOCYTE MATURATION DEFECT 3",2191,2,"0.8716012392107805"]
["C3810349","ALZHEIMER DISEASE 19",2190,2,"1.0","disease of anatomical entity"]
["C4540404","SPINOCEREBELLAR ATAXIA 46",2190,2,"1.0"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0"]
["C0549150","Pseudofolliculitis barbae (disorder)",2189,2,"1.0"]
["C0338650","Catatonia, Organic",2186,2,"1.0"]
["C0750992","Catatonia, Malignant",2186,2,"1.0"]
["C0029342","Orthomyxoviridae Infections",2185,2,"1.0"]
["C0276357","Swine influenza",2185,2,"1.0"]
["C1281440","Familial obesity",2184,2,"1.0"]
["C2937224","Constitutional obesity",2184,2,"1.0"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","disease of anatomical entity"]
["C3245525","Familial renal glucosuria",2183,2,"0.9999979019244837","disease of anatomical entity"]
["C4304540","1q44 microdeletion syndrome",2182,2,"1.0"]
["C4479319","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54",2182,2,"1.0"]
["C0036093","Salivary Gland Diseases",2181,2,"1.0"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0"]
["C3807873","FOVEAL HYPOPLASIA 2",2180,2,"1.0"]
["C1835845","Mitochondrial Phosphate Carrier Deficiency",2179,2,"1.0"]
["C4024201","Low-output congestive heart failure",2179,2,"1.0"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651"]
["C4225317","ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",2178,2,"0.4299195452999688","disease of anatomical entity"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151","disease of anatomical entity"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961"]
["C0553757","Olfaction Disorders",2176,2,"1.0"]
["C3888024","Cacosmia",2176,2,"1.0"]
["C4024944","Profound static encephalopathy",2175,2,"1.0"]
["C4225203","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",2175,2,"1.0"]
["C4310663","SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",2174,2,"1.0"]
["C4310664","SUDDEN CARDIAC FAILURE, INFANTILE",2174,2,"1.0"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0"]
["C4310806","CATARACT 47",2173,2,"1.0"]
["C1855055","Microcephaly with spastic quadriplegia",2172,2,"1.0"]
["C4538630","MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS",2172,2,"1.0"]
["C1970414","Osteogenesis Imperfecta, Type V",2171,2,"0.9597158449731907"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112"]
["C3810160","SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",2169,2,"1.0","disease of anatomical entity"]
["C3810161","SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",2169,2,"1.0","disease of anatomical entity"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563","disease of anatomical entity"]
["C4021857","Speckled corneal dystrophy",2168,2,"0.9949909177015215"]
["C0796133","Ramon Syndrome",2167,2,"1.0"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0"]
["C2931893","Lysosomal beta-mannosidase deficiency",2166,2,"1.0"]
["C4048196","beta-Mannosidosis",2166,2,"1.0","disease of metabolism"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0"]
["C4225666","CHROMOSOME 15q14 DELETION SYNDROME",2165,2,"1.0"]
["C4310678","LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C4310682","INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C3150154","CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",2162,2,"1.0","disease of mental health"]
["C3150701","CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",2162,2,"1.0","genetic disease"]
["C4022537","Triangular tongue",2161,2,"1.0"]
["C4225192","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",2161,2,"1.0","disease of anatomical entity"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0"]
["C3203738","Fowler syndrome",2159,2,"1.0"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0"]
["C4085582","MENTAL RETARDATION, X-LINKED 102",2158,2,"1.0"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0"]
["C3553625","FACIAL PARESIS, HEREDITARY CONGENITAL, 3",2157,2,"1.0"]
["C0268635","Acyl-CoA dehydrogenase deficiency",2156,2,"1.0"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0","disease of metabolism"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996","disease of anatomical entity"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996","disease of anatomical entity"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0"]
["C3151476","MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)",2154,2,"1.0","disease of metabolism"]
["C3280730","EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",2153,2,"1.0","disease of anatomical entity"]
["C3280734","FEBRILE SEIZURES, FAMILIAL, 11",2153,2,"1.0"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0"]
["C3809309","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",2151,2,"1.0","disease of anatomical entity"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0","disease of anatomical entity"]
["C4225323","BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",2150,2,"1.0"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0","disease of anatomical entity"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0","disease of anatomical entity"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0","disease of anatomical entity"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0","disease of anatomical entity"]
["C0220721","CATARACT 46, JUVENILE-ONSET",2147,2,"1.0","disease of anatomical entity"]
["C2931791","Cataract Hutterite type",2147,2,"1.0"]
["C0740895","Hypochloremic metabolic alkalosis",2145,2,"1.0"]
["C3151209","HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",2145,2,"1.0"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265"]
["C4014283","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",2144,2,"0.8804662006873856","disease of anatomical entity"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0","disease of metabolism"]
["C3553636","INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",2143,2,"1.0"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341","disease of anatomical entity"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807"]
["C0085423","Gram-Negative Bacterial Infections",2141,2,"0.9843319613353985","disease by infectious agent"]
["C0085426","Gram-Positive Bacterial Infections",2141,2,"0.9849174799210693","disease by infectious agent"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0"]
["C4283894","MENTAL RETARDATION, X-LINKED 61",2140,2,"1.0"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0","disease of mental health"]
["C3806722","PARKINSONISM WITH SPASTICITY, X-LINKED",2137,2,"1.0"]
["C4539783","SPERMATOGENIC FAILURE 18",2136,2,"1.0"]
["C4539798","CILIARY DYSKINESIA, PRIMARY, 37",2136,2,"1.0"]
["C2751084","Cardiomyopathy, Dilated, 1CC",2134,2,"1.0","disease of anatomical entity"]
["C3151267","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",2134,2,"1.0","disease of anatomical entity"]
["C2678475","Cardiomyopathy, Dilated, 1z",2133,2,"1.0","disease of anatomical entity"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0","disease of anatomical entity"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458"]
["C4225239","DESANTO-SHINAWI SYNDROME",2130,2,"1.0"]
["C4225431","CHROMOSOME 10p12-p11 DELETION SYNDROME",2130,2,"1.0"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0"]
["C4310811","MEESTER-LOEYS SYNDROME",2128,2,"1.0"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0","syndrome"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0","disease of anatomical entity"]
["C0398581","T-cell lymphocytosis",2126,2,"1.0"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299","disease of anatomical entity"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666","disease of anatomical entity"]
["C0263912","Rotator cuff syndrome",2124,2,"0.6795023821736237","disease of anatomical entity"]
["C3492944","Lentiginosis Profusa",2124,2,"0.6933365101845443"]
["C3150897","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",2123,2,"1.0","disease of anatomical entity"]
["C3151351","DEAFNESS, AUTOSOMAL RECESSIVE 89",2123,2,"1.0","disease of anatomical entity"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","syndrome"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191","syndrome"]
["C3808589","IMMUNODEFICIENCY 32A",2121,2,"1.0"]
["C4016741","IMMUNODEFICIENCY 32B",2121,2,"1.0"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0","disease of anatomical entity"]
["C4014987","ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",2120,2,"1.0"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144","disease of anatomical entity"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531"]
["C4310822","LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY",2118,2,"0.9948979750248561"]
["C0684324","Deficiency of phosphoglycerate kinase",2116,2,"0.9996383171337129"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976"]
["C3150912","CONE-ROD DYSTROPHY 15",2114,2,"1.0","disease of anatomical entity"]
["C3552852","RETINITIS PIGMENTOSA 65",2114,2,"1.0","disease of anatomical entity"]
["C4310791","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",2112,2,"1.0"]
["C4310792","DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",2112,2,"1.0"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102","disease of anatomical entity"]
["C4225418","MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",2111,2,"0.9993562479327174"]
["C3810295","SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",2110,2,"1.0","disease of anatomical entity"]
["C4014354","PONTOCEREBELLAR HYPOPLASIA, TYPE 9",2110,2,"1.0","disease of anatomical entity"]
["C3502075","Multiple Mitochondrial Dysfunctions Syndrome",2109,2,"0.3408546920892302"]
["C4225348","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4",2109,2,"0.6646486142146268","disease of metabolism"]
["C3809165","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3",2108,2,"1.0","disease of metabolism"]
["C4225322","SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",2108,2,"1.0","disease of anatomical entity"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0"]
["C4013360","GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",2107,2,"1.0","disease of anatomical entity"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0"]
["C3150973","THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)",2106,2,"1.0"]
["C0398593","Specific granule deficiency",2105,2,"0.9882304956667116"]
["C4479548","SPECIFIC GRANULE DEFICIENCY 2",2105,2,"0.9882813290181003"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","genetic disease"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","genetic disease"]
["C4310699","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",2101,2,"0.9962469446876268"]
["C4310700","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44",2101,2,"0.9962356915624274"]
["C4022698","Acephalic spermatozoa",2100,2,"1.0"]
["C4310674","SPERMATOGENIC FAILURE 16",2100,2,"1.0"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","disease of metabolism"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","disease of metabolism"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605"]
["C1867332","Reticular Dystrophy Of Retinal Pigment Epithelium",2097,2,"1.0"]
["C4310680","RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES",2097,2,"1.0"]
["C0220730","Fryns syndrome",2092,2,"1.0"]
["C3279775","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1",2092,2,"1.0","syndrome"]
["C4015172","SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",2088,2,"1.0"]
["C4310776","RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS",2088,2,"1.0"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863","disease of metabolism"]
["C2678415","Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency",2087,2,"0.9936009327432678"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0"]
["C3150833","OCCULT MACULAR DYSTROPHY",2086,2,"1.0","disease of anatomical entity"]
["C1328339","Dennie-Morgan fold",2084,2,"1.0"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0","disease of anatomical entity"]
["C3151206","LEBER CONGENITAL AMAUROSIS 15",2082,2,"1.0","disease of anatomical entity"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0"]
["C4539873","MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",2080,2,"1.0"]
["C1321780","Hypomagnesmic tetany",2079,2,"0.9996802237891713"]
["C1865974","Hypomagnesemia 1, Intestinal",2079,2,"0.9996802261627306","disease of metabolism"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0","physical disorder"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0"]
["C0521839","Influenza-like illness",2076,2,"1.0","disease by infectious agent"]
["C0521839","Influenza-like illness",2076,2,"1.0","disease of anatomical entity"]
["C3809543","CILIARY DYSKINESIA, PRIMARY, 22",2076,2,"1.0","genetic disease"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0"]
["C3810405","POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",2075,2,"1.0"]
["C1861821","CATARACT, MARNER TYPE",2074,2,"0.9822017501741636","disease of anatomical entity"]
["C3888417","CATARACT 5, MULTIPLE TYPES",2074,2,"0.9829326225666419","disease of anatomical entity"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0"]
["C4479651","RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA",2073,2,"1.0"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","disease of metabolism"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","disease of metabolism"]
["C4084821","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",2070,2,"1.0","disease of anatomical entity"]
["C4225400","INTERSTITIAL LUNG AND LIVER DISEASE",2070,2,"1.0"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0","disease of mental health"]
["C4305134","Fried syndrome",2067,2,"1.0"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0","disease of anatomical entity"]
["C4015349","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",2065,2,"1.0","disease of anatomical entity"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0"]
["C3807521","AMYOTROPHIC LATERAL SCLEROSIS 21",2064,2,"1.0","disease of anatomical entity"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0"]
["C1968603","Osteopetrosis, Autosomal Recessive 5",2062,2,"1.0","disease of anatomical entity"]
["C0700323","Observation of Neuromuscular Block",2060,2,"0.6894349436942794"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501","disease of anatomical entity"]
["C0028734","Nocturia",2058,2,"1.0"]
["C0342687","dopamine beta hydroxylase deficiency",2058,2,"1.0","disease of metabolism"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017"]
["C3809845","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",2056,2,"0.3516426861351214"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469","disease of mental health"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764"]
["C3553816","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",2053,2,"1.0","disease of anatomical entity"]
["C4521563","SPINOCEREBELLAR ATAXIA 44",2053,2,"1.0"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0","disease of anatomical entity"]
["C4225361","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29",2050,2,"1.0"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0","disease of anatomical entity"]
["C3280965","CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",2049,2,"1.0"]
["C3280036","MECKEL SYNDROME, TYPE 10",2048,2,"1.0","genetic disease"]
["C4539386","JOUBERT SYNDROME 34",2048,2,"1.0"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0"]
["C3552634","LYMPHOPROLIFERATIVE SYNDROME 1",2046,2,"1.0","disease of anatomical entity"]
["C0175696","Congenital cleft larynx and Opitz-Frias syndrome",2045,2,"0.999716883875141"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","genetic disease"]
["C0263532","Leukonychia punctata",2043,2,"1.0"]
["C3276977","LEUKONYCHIA STRIATUS",2043,2,"1.0"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0"]
["C4015261","POLYENDOCRINE-POLYNEUROPATHY SYNDROME",2038,2,"1.0"]
["C4539881","DEAFNESS, AUTOSOMAL DOMINANT 71",2038,2,"1.0"]
["C3836857","MECKEL SYNDROME, TYPE 8",2037,2,"1.0","genetic disease"]
["C4084841","JOUBERT SYNDROME 24",2037,2,"1.0","genetic disease"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0","disease of anatomical entity"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0","disease of anatomical entity"]
["C0019693","HIV Infections",2033,2,"0.9449935927616423","disease by infectious agent"]
["C4505456","HIV Coinfection",2033,2,"0.947367065095419","disease by infectious agent"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0"]
["C4284594","BAND HETEROTOPIA",2032,2,"1.0"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918","physical disorder"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918","genetic disease"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741","physical disorder"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741","genetic disease"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","physical disorder"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","syndrome"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","genetic disease"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695"]
["C1291316","Deficiency of reductase",2021,2,"1.0"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0","disease of metabolism"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0"]
["C4225321","ZIMMERMANN-LABAND SYNDROME 2",2018,2,"1.0"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193"]
["C0342792","Succinyl-CoA:3-oxoacid CoA transferase deficiency",2016,2,"1.0"]
["C1291422","Deficiency of 3-oxoacid CoA-transferase",2016,2,"1.0"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474","disease of anatomical entity"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0"]
["C3151880","NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)",2012,2,"1.0"]
["C1858535","MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)",2011,2,"1.0"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0"]
["C0270857","Epilepsy, Reflex",2009,2,"0.9990926425026795","disease of anatomical entity"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728","disease of metabolism"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0"]
["C3280644","LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",2008,2,"1.0","disease of anatomical entity"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","disease of anatomical entity"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652"]
["C0451669","Neuropathy in association with hereditary ataxia",2005,2,"1.0","disease of anatomical entity"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0","disease of anatomical entity"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0","disease of metabolism"]
["C1291564","Deficiency of aromatic-L-amino-acid decarboxylase",2004,2,"1.0","disease of metabolism"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975","disease of metabolism"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439","disease of metabolism"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","genetic disease"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","disease of anatomical entity"]
["C0549122","Relative afferent pupillary defect",1999,2,"0.9995212584625025"]
["C3541319","SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",1998,2,"1.0"]
["C3809651","INFANTILE LIVER FAILURE SYNDROME 2",1998,2,"1.0"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093","disease of anatomical entity"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406","disease of anatomical entity"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728","disease of anatomical entity"]
["C1641852","Gelatinous droplike corneal dystrophy",1996,2,"0.9983711423594059"]
["C1862871","ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",1994,2,"0.8825437542729301","disease of anatomical entity"]
["C2745963","Kashin-Beck Disease",1994,2,"0.847930898647363"]
["C3281066","USHER SYNDROME, TYPE IIIB",1993,2,"1.0","genetic disease"]
["C4225265","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",1993,2,"1.0","disease of anatomical entity"]
["C0085635","Photopsia",1992,2,"1.0"]
["C4479481","RETINITIS PIGMENTOSA 78",1992,2,"1.0"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0","disease of anatomical entity"]
["C2931095","Osteogenesis imperfecta, type 7",1991,2,"1.0"]
["C4310779","SPERMATOGENIC FAILURE 15",1990,2,"1.0"]
["C4310782","PREMATURE OVARIAN FAILURE 12",1990,2,"1.0"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0","disease of anatomical entity"]
["C4275023","Spinocerebellar ataxia type 10",1989,2,"1.0"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074","disease of anatomical entity"]
["C4310658","MYOCLONUS, INTRACTABLE, NEONATAL",1985,2,"0.9930484671440507"]
["C0029408","Degenerative polyarthritis",1984,2,"0.9148291528771603","disease of anatomical entity"]
["C0086743","Osteoarthrosis Deformans",1984,2,"0.9189154714954368"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544","disease of cellular proliferation"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544","disease of anatomical entity"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603","disease of cellular proliferation"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603","disease of anatomical entity"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582","disease of anatomical entity"]
["C3281192","INFANTILE CEREBELLAR-RETINAL DEGENERATION",1981,2,"1.0","disease of anatomical entity"]
["C4225384","OPTIC ATROPHY 9",1981,2,"1.0"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0"]
["C3808166","MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT",1979,2,"1.0"]
["C0272173","Myelokathexis",1978,2,"0.9869468725933866"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995","disease of anatomical entity"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0","genetic disease"]
["C3150808","RETINITIS PIGMENTOSA 55",1977,2,"1.0","disease of anatomical entity"]
["C4310675","ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",1975,2,"1.0"]
["C4316985","Cerebellar edema",1975,2,"1.0"]
["C4225177","SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1",1973,2,"1.0"]
["C4310736","MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",1973,2,"1.0"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238"]
["C0809936","Branchio-skeleto-genital syndrome",1971,2,"1.0"]
["C0877521","Chronic synovitis",1971,2,"1.0"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232","disease of metabolism"]
["C2931141","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency",1970,2,"0.993735939153861"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153","disease of metabolism"]
["C3553645","MYASTHENIC SYNDROME, CONGENITAL, 13",1969,2,"0.9552197774138775","disease of anatomical entity"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0","disease of metabolism"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0","disease of metabolism"]
["C3150899","PARKINSON DISEASE 5, AUTOSOMAL DOMINANT",1967,2,"1.0"]
["C3809665","SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",1967,2,"1.0"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0"]
["C4310697","FRONTOMETAPHYSEAL DYSPLASIA 2",1966,2,"1.0"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0","disease of anatomical entity"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0","disease of anatomical entity"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","disease of anatomical entity"]
["C1847667","CARDIOMYOPATHY, DILATED, 1L",1963,2,"1.0","disease of anatomical entity"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058","disease of anatomical entity"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965","disease of anatomical entity"]
["C3892050","DEAFNESS, AUTOSOMAL RECESSIVE 102",1960,2,"0.9805792872846669","disease of anatomical entity"]
["C4022756","Profound hearing impairment",1960,2,"0.9758431221748454"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824","disease of metabolism"]
["C0149696","Food intolerance (disorder)",1958,2,"0.9600138021889058"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418","disease of metabolism"]
["C0023890","Liver Cirrhosis",1957,2,"0.8876806404745305","disease of anatomical entity"]
["C0239946","Fibrosis, Liver",1957,2,"0.8920036166681832","disease of anatomical entity"]
["C3553230","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",1956,2,"0.952300868513004","disease of metabolism"]
["C3809160","SHAHEEN SYNDROME",1956,2,"0.9517879856932137"]
["C0034951","Refractive Errors",1954,2,"0.6804215250225317","disease of anatomical entity"]
["C1527310","Ametropia",1954,2,"0.5606393009725587","disease of anatomical entity"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818","syndrome"]
["C3469542","FANCONI ANEMIA, COMPLEMENTATION GROUP P",1953,2,"0.45072110575490854","disease of anatomical entity"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231","disease of anatomical entity"]
["C1824925","DEAFNESS, AUTOSOMAL RECESSIVE 70",1951,2,"0.960444629476515","disease of anatomical entity"]
["C3554129","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13",1951,2,"0.9597183910999514","disease of metabolism"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093","disease of metabolism"]
["C4015597","MYASTHENIC SYNDROME, CONGENITAL, 14",1950,2,"0.9351499839718267","disease of anatomical entity"]
["C3550904","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36",1949,2,"0.9992390690722684","disease of metabolism"]
["C4317295","Congenital disorder of glycosylation type 1s",1949,2,"0.9992388540617094","disease of metabolism"]
["C0027612","Congenital, Hereditary, and Neonatal Diseases and Abnormalities",1947,2,"0.9986497212960793"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139","disease of metabolism"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0"]
["C0006111","Brain Diseases",1945,2,"0.8224639816105657","disease of anatomical entity"]
["C0085584","Encephalopathies",1945,2,"0.8326211128565733","disease of anatomical entity"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0","disease of metabolism"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0","disease of metabolism"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0","disease of metabolism"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0","disease of metabolism"]
["C1866257","Peroxisome Biogenesis Disorder, Complementation Group K",1938,2,"1.0"]
["C3554004","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)",1938,2,"1.0"]
["C4083048","SPONDYLOCOSTAL DYSOSTOSIS 5",1934,2,"0.8079663270928997","disease of anatomical entity"]
["C4274761","Autosomal dominant spondylocostal dysostosis",1934,2,"0.8335519858943492"]
["C1852521","Spondylocostal Dysostosis 4, Autosomal Dominant",1932,2,"0.380214281887591"]
["C3150942","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",1932,2,"0.3203474161409904","disease of anatomical entity"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0","disease of metabolism"]
["C4015371","MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT",1930,2,"1.0"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657","physical disorder"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438","physical disorder"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","disease of anatomical entity"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","disease of anatomical entity"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856","disease of metabolism"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885","disease of metabolism"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885","disease of anatomical entity"]
["C4020911","Herpetiform corneal ulceration",1923,2,"0.7744797493416075"]
["C3150705","FOXG1 syndrome",1921,2,"1.0","disease of mental health"]
["C4305240","14q12 microdeletion syndrome",1921,2,"1.0"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546","genetic disease"]
["C3554349","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",1920,2,"0.4019411527173876","disease of anatomical entity"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859","disease by infectious agent"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844","disease of anatomical entity"]
["C1969644","Cataract, Cortical, Juvenile-Onset",1918,2,"1.0"]
["C3808107","CATARACT 33, MULTIPLE TYPES",1918,2,"1.0","disease of anatomical entity"]
["C0016037","Fibrodysplasia Ossificans Progressiva",1917,2,"0.937027148580973","disease of anatomical entity"]
["C0027122","Myositis Ossificans",1917,2,"0.9541993806119232","disease of anatomical entity"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556","disease of anatomical entity"]
["C3280556","PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",1916,2,"0.9486011868150879"]
["C3554168","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14",1915,2,"0.9594478719131199","disease of metabolism"]
["C4310750","SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",1915,2,"0.9595564828919343","disease of anatomical entity"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272","disease of anatomical entity"]
["C4024779","Marginal corneal dystrophy",1914,2,"0.9997988212639636"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0","genetic disease"]
["C4225281","RETINITIS PIGMENTOSA 74",1912,2,"1.0","disease of anatomical entity"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0","disease of anatomical entity"]
["C3151107","RETINITIS PIGMENTOSA 40 (disorder)",1911,2,"1.0","disease of anatomical entity"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0","genetic disease"]
["C3150715","RETINITIS PIGMENTOSA 51",1910,2,"1.0","disease of anatomical entity"]
["C1855305","Ter Haar syndrome",1908,2,"1.0"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0"]
["C3151781","CK SYNDROME",1904,2,"1.0"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0","disease of anatomical entity"]
["C4225329","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25",1899,2,"1.0"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0","disease of anatomical entity"]
["C4225345","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",1896,2,"1.0","disease of anatomical entity"]
["C0221237","Angular cheilitis",1894,2,"1.0","disease of anatomical entity"]
["C4225381","PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",1894,2,"1.0"]
["C1272352","Deficiency of vitamin D3",1891,2,"0.4400455048729931"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966","disease of anatomical entity"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0","disease of metabolism"]
["C0342728","3-Methylglutaconic aciduria type 1",1889,2,"1.0"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0","disease of anatomical entity"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0","disease of anatomical entity"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521"]
["C2751811","Spermatogenic Failure 7",1887,2,"0.4389480052211166","disease of anatomical entity"]
["C4225337","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33",1886,2,"1.0"]
["C4225343","MENTAL RETARDATION, AUTOSOMAL DOMINANT 38",1886,2,"1.0"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0","disease of anatomical entity"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0"]
["C0085399","Ehrlichiosis",1883,2,"1.0","disease by infectious agent"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0","disease of anatomical entity"]
["C1319860","Sendai virus infection",1882,2,"0.5513291578680211"]
["C1558931","Flu-Like Syndrome Adverse Event",1882,2,"0.6429747773225882"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0"]
["C4274732","Ischio-vertebral syndrome",1878,2,"1.0"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901","disease of anatomical entity"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346","syndrome"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153","disease of anatomical entity"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692","disease of anatomical entity"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155","disease of anatomical entity"]
["C3280452","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",1873,2,"1.0","disease of anatomical entity"]
["C4015519","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",1873,2,"1.0"]
["C0398564","Deficiency of adenylate kinase",1870,2,"1.0"]
["C2675459","Adenylate Kinase Deficiency, Hemolytic Anemia Due To",1870,2,"1.0","disease of anatomical entity"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0"]
["C1861101","THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT",1865,2,"1.0"]
["C0020097","HTLV-I Infections",1864,2,"0.5241517128506971"]
["C1260874","Infective dermatitis",1864,2,"0.6616355314469539"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0","disease of anatomical entity"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0","disease of anatomical entity"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238"]
["C2732267","Auditory neuropathy spectrum disorder",1862,2,"0.902617382239077"]
["C1704436","Peripheral Arterial Diseases",1860,2,"0.38424296801974117"]
["C4304539","20p12.3 microdeletion syndrome",1860,2,"0.3390729342062795"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517","disease of anatomical entity"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141","disease of anatomical entity"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846","disease of anatomical entity"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663","disease of anatomical entity"]
["C3809824","PARKINSON DISEASE 20, EARLY-ONSET",1849,2,"1.0","disease of anatomical entity"]
["C4479313","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53",1849,2,"1.0"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0"]
["C3151056","SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",1843,2,"0.8432220061304524","disease of anatomical entity"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242","disease of mental health"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0","disease of anatomical entity"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0","physical disorder"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0","genetic disease"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0","disease of anatomical entity"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993"]
["C0268464","Transient hyperphenylalaninemia",1839,2,"0.3363570533779135"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402"]
["C3151355","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A",1836,2,"1.0"]
["C3151356","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION",1836,2,"1.0"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0"]
["C3151461","LISSENCEPHALY 4",1835,2,"1.0","physical disorder"]
["C1857342","Deafness, Cochlear, with Myopia and Intellectual Impairment",1834,2,"1.0"]
["C3806275","DEAFNESS AND MYOPIA",1834,2,"1.0"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934","disease of anatomical entity"]
["C0155728","Other specified transient cerebral ischemias",1832,2,"0.9204860580043087"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063"]
["C2675186","LEBER CONGENITAL AMAUROSIS 13",1828,2,"0.9844482350661028","disease of anatomical entity"]
["C3150208","RETINITIS PIGMENTOSA 53",1828,2,"0.9844174981586188","disease of anatomical entity"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889","genetic disease"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","disease of mental health"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","genetic disease"]
["C0155567","Rheumatic aortic stenosis",1824,2,"0.5919890323990766","disease of anatomical entity"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741"]
["C0400966","Non-alcoholic Fatty Liver Disease",1822,2,"0.9651929936931013","disease of metabolism"]
["C3241937","Nonalcoholic Steatohepatitis",1822,2,"0.966623355139347"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","syndrome"]
["C0348932","Other specified diabetes mellitus with unspecified complications",1818,2,"0.8854110834335897","syndrome"]
["C3532239","Mitochondrial cardiomyopathy",1816,2,"1.0"]
["C4310690","MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)",1816,2,"1.0"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988","disease of anatomical entity"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0","disease of anatomical entity"]
["C3714897","SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",1813,2,"1.0","disease of anatomical entity"]
["C3539920","ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1812,2,"0.9971926212392787"]
["C3541517","ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",1812,2,"0.9973417841950787"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654","genetic disease"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654","disease of anatomical entity"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762","genetic disease"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762","disease of anatomical entity"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985","genetic disease"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985","disease of anatomical entity"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246","disease of anatomical entity"]
["C3554687","IL21R IMMUNODEFICIENCY",1808,2,"1.0"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0"]
["C3809356","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",1807,2,"1.0","syndrome"]
["C3809369","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2",1807,2,"1.0","disease of anatomical entity"]
["C3275508","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",1805,2,"1.0","syndrome"]
["C3806670","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1",1805,2,"1.0","disease of anatomical entity"]
["C0018824","Heart valve disease",1800,2,"0.468320665397619","disease of anatomical entity"]
["C0263628","Tumoral calcinosis",1800,2,"0.48046789900471765","disease of metabolism"]
["C0599973","Waardenburg Anophthalmia Syndrome",1799,2,"0.9351312529556339","genetic disease"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709","syndrome"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709","genetic disease"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709","disease of anatomical entity"]
["C0559469","Allergy to eggs",1798,2,"1.0","disease of anatomical entity"]
["C4015316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",1798,2,"1.0"]
["C3501647","Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",1797,2,"1.0"]
["C4025283","Compensated hemolytic anemia",1797,2,"1.0"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413","disease of anatomical entity"]
["C2316810","Chronic kidney disease stage 5",1794,2,"0.5745825559846915"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937","disease of anatomical entity"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","disease of anatomical entity"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573"]
["C0035305","Retinal Detachment",1787,2,"0.6122910704788862","disease of anatomical entity"]
["C0339546","Retinal Pigment Epithelial Detachment",1787,2,"0.6155897910275362","disease of anatomical entity"]
["C0494559","Diseases of inner ear",1786,2,"1.0","disease of anatomical entity"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0","disease of anatomical entity"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","disease of mental health"]
["C3550903","CORNELIA DE LANGE SYNDROME 5",1785,2,"0.29742385892933076","genetic disease"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","disease of anatomical entity"]
["C3151752","NYSTAGMUS 6, CONGENITAL, X-LINKED",1782,2,"0.9779609451758826","disease of anatomical entity"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","disease of metabolism"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402","disease of metabolism"]
["C1848651","Al Awadi syndrome",1778,2,"1.0"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0","disease of anatomical entity"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0","disease of anatomical entity"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0","disease of anatomical entity"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0"]
["C1867923","Posterior column ataxia",1776,2,"1.0"]
["C0432328","Xeroderma pigmentosum, variant form",1773,2,"1.0"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0","genetic disease"]
["C0152915","Acute miliary tuberculosis",1772,2,"1.0","disease by infectious agent"]
["C4013949","IMMUNODEFICIENCY 30",1772,2,"1.0"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0","disease of metabolism"]
["C4284088","MIRAGE SYNDROME",1770,2,"1.0"]
["C0021831","Intestinal Diseases",1769,2,"0.16045635888817433","disease of anatomical entity"]
["C0041582","Ulcer",1769,2,"0.30176868286225256"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149","disease of metabolism"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853","disease of metabolism"]
["C0267557","Secretory diarrhea",1766,2,"0.5275118889809377"]
["C2678346","Diarrhea 3, Secretory Sodium, Congenital, Syndromic",1766,2,"0.6741573365128385"]
["C0013363","Dysautonomia",1764,2,"0.6671654799032101"]
["C1145628","Autonomic nervous system disorders",1764,2,"0.3421901059201606","disease of anatomical entity"]
["C0009782","Connective Tissue Diseases",1763,2,"0.5214293159438249","disease of anatomical entity"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129"]
["C1860405","Snowflake vitreoretinal degeneration",1762,2,"0.9991353388790598"]
["C3280062","LEBER CONGENITAL AMAUROSIS 16",1762,2,"0.9991355169469426","disease of anatomical entity"]
["C0021843","Intestinal Obstruction",1759,2,"0.4246850904909229","disease of anatomical entity"]
["C1859047","CYSTIC FIBROSIS MODIFIER 1",1759,2,"0.5371449152882891"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344","disease of metabolism"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971","disease of metabolism"]
["C0005806","Blood Group Incompatibility",1757,2,"0.8117784679370667","disease of anatomical entity"]
["C0860218","ABO incompatibility",1757,2,"0.800208731510822"]
["C0010474","Curling Ulcer",1756,2,"0.9221385845809931","disease of anatomical entity"]
["C0013295","Duodenal Ulcer",1756,2,"0.9243479921850533","disease of anatomical entity"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128","disease of metabolism"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483","disease of metabolism"]
["C0026650","Movement Disorders",1754,2,"0.8255199927423146","disease of anatomical entity"]
["C0266487","Etat Marbre",1754,2,"0.8114893949278197","disease of anatomical entity"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886","disease of anatomical entity"]
["C2930898","Benign essential blepharospasm",1749,2,"0.6380295298670042","disease of anatomical entity"]
["C3150801","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",1744,2,"0.9405416247051087","disease of metabolism"]
["C3539506","SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",1744,2,"0.9400269311959818","disease of anatomical entity"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0","disease of metabolism"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0","disease of metabolism"]
["C1409412","Periostosis",1741,2,"1.0"]
["C3280800","HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",1741,2,"1.0"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622","syndrome"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622","disease of anatomical entity"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645","syndrome"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099"]
["C4539985","CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",1738,2,"0.9881727607209994"]
["C0235222","Diastolic hypertension",1737,2,"0.324754344661128"]
["C1837739","Hypertension, Diastolic, Resistance to",1737,2,"0.5843464757410313"]
["C0393933","Pseudomyopathic myasthenia",1734,2,"1.0"]
["C3552335","MYASTHENIC SYNDROME, CONGENITAL, 12",1734,2,"1.0","disease of anatomical entity"]
["C0014867","Esophageal Varices",1733,2,"0.6350096126274755"]
["C0017145","Gastric Varix",1733,2,"0.6760817366349227"]
["C0149821","ACUTE ALCOHOL WITHDRAWAL",1731,2,"0.6741994823480865"]
["C3554691","HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2",1731,2,"0.6653230555327193","disease of anatomical entity"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273","disease of anatomical entity"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","disease of anatomical entity"]
["C0039128","Syphilis",1727,2,"0.375610952098552"]
["C4310772","NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",1727,2,"0.32760471436713395"]
["C1969639","Cardiomyopathy, Dilated, 1w",1725,2,"1.0","disease of anatomical entity"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0","disease of anatomical entity"]
["C0948441","Venoocclusive disease",1724,2,"0.2574309206206856"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532"]
["C0270921","Axonal neuropathy",1720,2,"0.9135486148895609","disease of anatomical entity"]
["C1263857","Peripheral axonal neuropathy",1720,2,"0.9132666940481179"]
["C3810175","SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",1719,2,"0.9962600971483832","genetic disease"]
["C4225342","RETINITIS PIGMENTOSA 71",1719,2,"0.9962491437281913","disease of anatomical entity"]
["C0265245","Nager syndrome",1718,2,"1.0","disease of anatomical entity"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0","disease of anatomical entity"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587","disease of anatomical entity"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421","disease of anatomical entity"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712","disease of anatomical entity"]
["C2752072","Cardiomyopathy, Dilated, 1BB",1714,2,"0.9959411723834988","disease of anatomical entity"]
["C0162830","Dermatitis, Phototoxic",1711,2,"1.0","disease of anatomical entity"]
["C1527358","Phototoxicity",1711,2,"1.0","disease of anatomical entity"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035","disease of metabolism"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035","disease of mental health"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011","disease of metabolism"]
["C1838656","Macrocytosis, Familial",1704,2,"1.0"]
["C4015537","THROMBOCYTOPENIA 5",1704,2,"1.0"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0","disease of metabolism"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0","disease of metabolism"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","disease of anatomical entity"]
["C0339063","Cellulitis of eyelid",1695,2,"0.9999999999999978"]
["C0238044","Concentric hypertrophic cardiomyopathy",1693,2,"0.5837644351220689"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658","disease of metabolism"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0","disease of anatomical entity"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0","disease of metabolism"]
["C4225313","BETHLEM MYOPATHY 2",1690,2,"1.0"]
["C4225314","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2",1690,2,"1.0"]
["C0948245","Cytokine release syndrome",1689,2,"1.0"]
["C3150738","Antibody Deficiency due to Defect in CD19",1689,2,"1.0","disease of anatomical entity"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988","disease of metabolism"]
["C4024972","Symmetrical progressive peripheral demyelination",1687,2,"0.9893212140445037"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106","genetic disease"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106","disease of anatomical entity"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159","genetic disease"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159","disease of anatomical entity"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0","disease of anatomical entity"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0"]
["C2748055","Hypoinsulinaemia (disorder)",1682,2,"1.0"]
["C4015710","TENORIO SYNDROME",1682,2,"1.0"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0","disease of anatomical entity"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0","disease of anatomical entity"]
["C1840284","LEBER CONGENITAL AMAUROSIS 11",1679,2,"1.0","disease of anatomical entity"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0","disease of anatomical entity"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081","disease of mental health"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081","disease of anatomical entity"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526","disease of anatomical entity"]
["C0342770","Fumarase deficiency",1677,2,"1.0"]
["C2936826","Fumaric aciduria",1677,2,"1.0"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0"]
["C1533587","Hydroxymethylglutaric aciduria",1674,2,"1.0"]
["C0014394","Enuresis",1671,2,"0.20966635890501764"]
["C3554520","UROFACIAL SYNDROME 2",1671,2,"0.4159675632417093","genetic disease"]
["C1866259","Peroxisome Biogenesis Disorder, Complementation Group 13",1670,2,"0.7716336185757453"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262"]
["C3554000","PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)",1669,2,"0.9012942939516393"]
["C3554001","PEROXISOME BIOGENESIS DISORDER 11B",1669,2,"0.8016209522598845"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661","disease of anatomical entity"]
["C4275170","Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1",1668,2,"0.9167319571695101"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0","disease of anatomical entity"]
["C4310824","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",1666,2,"1.0"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","disease of anatomical entity"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807","disease of anatomical entity"]
["C1858679","CATARACT, AUTOSOMAL DOMINANT",1658,2,"0.9880133262157748","disease of anatomical entity"]
["C3888098","Cataract, Autosomal Recessive Congenital 1",1658,2,"0.98816940786915","disease of anatomical entity"]
["C0342778","Ubiquinone dehydrogenase deficiency",1655,2,"0.8598979150097114"]
["C1852372","MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)",1655,2,"0.8806601599968179"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366"]
["C3554127","ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",1654,2,"0.5632680307570415"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","disease of anatomical entity"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759","disease of anatomical entity"]
["C0748140","Multiple pulmonary infections",1650,2,"0.9706120916814711"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891"]
["C0022638","Ketosis",1647,2,"0.9934333057638904"]
["C0235430","Ketonemia",1647,2,"0.9934126622468727"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674","disease of metabolism"]
["C0221005","Mauriac\\'s syndrome",1645,2,"0.8881871104799041"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086","disease of metabolism"]
["C3150754","GLYCOGEN STORAGE DISEASE XV",1643,2,"1.0","disease of metabolism"]
["C4015452","POLYGLUCOSAN BODY MYOPATHY 2",1643,2,"1.0"]
["C0008370","Cholestasis",1641,2,"0.5438031918208762","disease of anatomical entity"]
["C1112213","Cholestasis in newborn",1641,2,"0.4534190889884303"]
["C0035869","Rotavirus Infections",1637,2,"0.2095573791608353"]
["C0267446","Acute gastroenteritis",1637,2,"0.42568256794379544"]
["C0268152","Classical galactosemia, homozygous Duarte-type",1636,2,"1.0"]
["C3278146","GALACTOSEMIA, DUARTE VARIANT",1636,2,"1.0"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687","disease of anatomical entity"]
["C3150618","Maturity-onset diabetes of the young, type 11",1628,2,"0.32880966290534697","genetic disease"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","disease of anatomical entity"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934","disease of anatomical entity"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0","disease of anatomical entity"]
["C3152083","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",1624,2,"1.0","disease of anatomical entity"]
["C1845408","Contiguous Abcd1-Dxs1375e Deletion Syndrome",1623,2,"0.8377425196350115"]
["C3806634","DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",1623,2,"0.8860174567657735"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","disease of anatomical entity"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","disease of anatomical entity"]
["C0034069","Pulmonary Fibrosis",1621,2,"0.8183503591523228","disease of anatomical entity"]
["C0085786","Hamman-Rich syndrome",1621,2,"0.7686256632017731","disease of anatomical entity"]
["C0241984","Honeycomb lung",1620,2,"0.878243287721025"]
["C1800706","Idiopathic Pulmonary Fibrosis",1620,2,"0.8686501159010562","disease of anatomical entity"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803","disease of anatomical entity"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577","disease of anatomical entity"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463"]
["C3553637","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",1617,2,"0.4448050821973686"]
["C0272242","Complement deficiency disease",1616,2,"0.05908131845707539","disease of anatomical entity"]
["C1864694","Complement Component 7 Deficiency",1616,2,"0.3791243296303916","disease of anatomical entity"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456"]
["C3872560","Acute vascular graft rejection",1614,2,"0.9995880480031659"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541","disease of cellular proliferation"]
["C3463897","HYDATIDIFORM MOLE, RECURRENT, 1",1613,2,"0.737995914660835","disease of cellular proliferation"]
["C3502073","Woolly Hair, Autosomal Recessive",1611,2,"0.9824197758040908"]
["C4225214","WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",1611,2,"0.9839865392557181"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881","disease of anatomical entity"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732","disease of anatomical entity"]
["C0001125","Acidosis, Lactic",1608,2,"0.164081161727295","disease of metabolism"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705","disease of metabolism"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705","disease of anatomical entity"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293"]
["C3553358","COENZYME Q10 DEFICIENCY, PRIMARY, 3",1602,2,"0.37791205537038886","disease of metabolism"]
["C3553374","COENZYME Q10 DEFICIENCY, PRIMARY, 5",1602,2,"0.3554669543959837","disease of metabolism"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542","disease of mental health"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592","disease of mental health"]
["C1861106","Thyrotropin-Releasing Hormone Resistance, Generalized",1589,2,"1.0"]
["C4511136","Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency",1589,2,"1.0"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603","disease of anatomical entity"]
["C4082174","Thyrotropin deficiency, isolated",1588,2,"0.9986728115370451","disease of anatomical entity"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165","genetic disease"]
["C4280575","Progressive brain disease",1586,2,"0.09162557557979803"]
["C3151188","NEPHRONOPHTHISIS 9",1583,2,"1.0","genetic disease"]
["C3809434","RENAL-HEPATIC-PANCREATIC DYSPLASIA 2",1583,2,"1.0","physical disorder"]
["C3554235","JOUBERT SYNDROME 20",1580,2,"1.0","genetic disease"]
["C3809352","MECKEL SYNDROME, TYPE 11",1580,2,"1.0","genetic disease"]
["C3539071","NEPHRONOPHTHISIS 14",1579,2,"1.0","genetic disease"]
["C3553846","JOUBERT SYNDROME 19",1579,2,"1.0","genetic disease"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308","disease of metabolism"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695","disease of metabolism"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0"]
["C4225424","OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY",1573,2,"1.0"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0"]
["C4015555","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9",1572,2,"1.0","disease of anatomical entity"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","syndrome"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472","genetic disease"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317","genetic disease"]
["C0220687","KBG syndrome",1565,2,"1.0","syndrome"]
["C4304594","16q24.3 microdeletion syndrome",1565,2,"1.0"]
["C0271907","Acquired aplastic anemia",1564,2,"0.2741952790412705","disease of anatomical entity"]
["C0744855","hepatitis immune",1564,2,"0.3134045287442611"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184","disease of anatomical entity"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617","genetic disease"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123"]
["C3809536","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS",1560,2,"0.4825095762737312","disease of anatomical entity"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","disease of metabolism"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911","disease of anatomical entity"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0","disease of anatomical entity"]
["C4310742","COLD-INDUCED SWEATING SYNDROME 3",1553,2,"1.0"]
["C0242994","Hantavirus Infections",1550,2,"0.3457132766276379","disease by infectious agent"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","genetic disease"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0"]
["C3280220","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",1548,2,"1.0","disease of anatomical entity"]
["C2675188","Kallmann Syndrome 6",1547,2,"1.0"]
["C3552574","HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA",1547,2,"1.0","disease of anatomical entity"]
["C1857720","KALLMANN SYNDROME 4 (disorder)",1546,2,"1.0"]
["C3552343","HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA",1546,2,"1.0","disease of anatomical entity"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0","disease of anatomical entity"]
["C3888124","CATARACT 17, MULTIPLE TYPES",1545,2,"1.0","disease of anatomical entity"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0","genetic disease"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0","disease of anatomical entity"]
["C0023240","Legionellosis",1541,2,"1.0","disease by infectious agent"]
["C3809001","CATARACT 15, MULTIPLE TYPES",1541,2,"1.0","disease of anatomical entity"]
["C0392557","Nuclear cataract",1539,2,"0.9728213294750262"]
["C1112705","Nuclear non-senile cataract",1539,2,"0.9730895139831194"]
["C1861828","Cataract, Zonular Pulverulent 1",1538,2,"0.9995307914643872","disease of anatomical entity"]
["C1866984","Sclerocornea, Autosomal Dominant",1538,2,"0.9995339311877735","disease of anatomical entity"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0","disease of anatomical entity"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0","disease of anatomical entity"]
["C3151402","CANDIDIASIS, FAMILIAL, 5",1535,2,"1.0"]
["C4310803","IMMUNODEFICIENCY 51",1535,2,"1.0","disease by infectious agent"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703","disease by infectious agent"]
["C0007971","Cheilitis",1533,2,"0.39024983625431026","disease of anatomical entity"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117","disease of anatomical entity"]
["C2873787","Deficiency of factor X [Stuart-Prower]",1531,2,"0.9823409279708865","disease of anatomical entity"]
["C0026267","Mitral Valve Prolapse Syndrome",1530,2,"0.15666223115234226","disease of anatomical entity"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843"]
["C0024117","Chronic Obstructive Airway Disease",1529,2,"0.6912310300548151","disease of anatomical entity"]
["C1527303","Chronic Airflow Obstruction",1529,2,"0.7003753972171192","disease of anatomical entity"]
["C0151559","Central nervous system depression (disorder)",1527,2,"0.596908233595892"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763"]
["C0392702","Abnormal involuntary movement",1526,2,"1.0"]
["C1860861","TREMOR, HEREDITARY ESSENTIAL, 1",1526,2,"1.0","disease of anatomical entity"]
["C0018801","Heart failure",1523,2,"0.966996233275587","disease of anatomical entity"]
["C0018802","Congestive heart failure",1523,2,"0.9664922736405422","disease of anatomical entity"]
["C0272167","Reticular dysgenesis",1521,2,"1.0","disease of anatomical entity"]
["C1282908","De Vaal\\'s syndrome",1521,2,"1.0"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896","disease of anatomical entity"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","disease of anatomical entity"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557"]
["C4310692","ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",1518,2,"0.9349076696179686"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563","disease of metabolism"]
["C2749929","Musician\\'s Dystonia",1515,2,"0.6946182617384036"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","disease of anatomical entity"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454","disease of anatomical entity"]
["C0877221","Decreased erythroid precursor production",1511,2,"1.0"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0","disease of anatomical entity"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314","disease of anatomical entity"]
["C0149519","Chronic Persistent Hepatitis",1508,2,"0.8262575274558098","disease of anatomical entity"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856","disease of anatomical entity"]
["C0524611","Cryptogenic Chronic Hepatitis",1507,2,"0.6128263576684341","disease of anatomical entity"]
["C0235812","Vitritis",1506,2,"0.5514805143348978"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152","disease of anatomical entity"]
["C0003864","Arthritis",1503,2,"0.3662407056719722","disease of anatomical entity"]
["C0162323","Polyarthritis",1503,2,"0.2836236717604402","disease of anatomical entity"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757","disease of anatomical entity"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638","disease of anatomical entity"]
["C0235840","Neonatal diarrhea",1500,2,"0.9999999999999984","disease of anatomical entity"]
["C0495452","Noninfective neonatal diarrhea",1500,2,"0.9999999999999984","disease of anatomical entity"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808","disease of anatomical entity"]
["C4275062","Intestinal epithelial dysplasia",1499,2,"0.9992593093388547"]
["C0006266","Bronchial Spasm",1498,2,"1.0"]
["C1837371","Sudden Infant Death with Dysgenesis of the Testes Syndrome",1498,2,"1.0"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","disease of anatomical entity"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584","disease of anatomical entity"]
["C3266102","Steroid resistant nephrotic syndrome of childhood",1495,2,"0.6802326706319196"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666","disease of anatomical entity"]
["C1271398","Pigment dispersion syndrome (disorder)",1492,2,"0.6484561206792332","disease of anatomical entity"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812"]
["C0008350","Cholelithiasis",1491,2,"0.49590903592182917","disease of anatomical entity"]
["C0947622","Cholecystolithiasis",1491,2,"0.405946169327562","disease of anatomical entity"]
["C0268532","Deficiency of prolidase",1486,2,"1.0"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0"]
["C0016977","Gall Bladder Diseases",1483,2,"0.33339552239079984","disease of anatomical entity"]
["C3275124","Biliary System Disorder",1483,2,"0.4843113020635257"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774","disease of anatomical entity"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443","disease of anatomical entity"]
["C0494491","Mononeuropathies",1476,2,"0.8486055939681488","disease of anatomical entity"]
["C4225318","EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",1476,2,"0.8576804381377912","disease of anatomical entity"]
["C0398788","Immunodeficiency syndrome, variable",1474,2,"1.0","genetic disease"]
["C0494266","Other specified immunodeficiencies",1474,2,"1.0","genetic disease"]
["C0241423","Atrophy of tongue",1472,2,"0.06702470554463351"]
["C3472711","Spinocerebellar ataxia 36",1472,2,"0.33752033883368693","disease of anatomical entity"]
["C0221260","Dystrophia unguium",1471,2,"0.3446832338711288"]
["C1834405","Nail dysplasia",1471,2,"0.370343242850545"]
["C1853205","Glycosylphosphatidylinositol deficiency",1470,2,"0.44828598636543987"]
["C4014958","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5",1470,2,"0.38532317021966167"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897","disease of anatomical entity"]
["C0040558","Toxoplasmosis",1469,2,"0.5598850919242668","disease by infectious agent"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279","disease of anatomical entity"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","disease of anatomical entity"]
["C0543669","Neutrophilia, Hereditary",1466,2,"1.0","disease of anatomical entity"]
["C4310764","NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",1466,2,"1.0"]
["C3280155","MECKEL SYNDROME, TYPE 9",1463,2,"1.0","genetic disease"]
["C4310706","JOUBERT SYNDROME 27",1463,2,"1.0","genetic disease"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0"]
["C0268425","Alstrom Syndrome",1462,2,"1.0","genetic disease"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0"]
["C4310694","MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",1461,2,"1.0","disease of anatomical entity"]
["C2986691","Inherited bone marrow failure syndrome",1458,2,"0.9380677966232861"]
["C4310744","BONE MARROW FAILURE SYNDROME 3",1458,2,"0.9364712329965857"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031"]
["C4012727","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",1455,2,"0.6612955252399989"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106"]
["C4014738","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2",1454,2,"0.6672655055693232"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0","genetic disease"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0","disease of anatomical entity"]
["C1863224","Adenosine Triphosphate, Elevated, Of Erythrocytes",1449,2,"1.0"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796","disease of metabolism"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796","disease of anatomical entity"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135","disease of metabolism"]
["C4225347","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4",1444,2,"1.0"]
["C4225356","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",1444,2,"1.0"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0","genetic disease"]
["C3553758","JOUBERT SYNDROME 18",1443,2,"1.0","genetic disease"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0","disease of anatomical entity"]
["C3281235","BARAITSER-WINTER SYNDROME 2",1442,2,"1.0","syndrome"]
["C1846331","Juvenile-onset dystonia",1441,2,"1.0"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0"]
["C0029429","Osteochondrosis",1440,2,"0.8069608419822124","disease of anatomical entity"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","syndrome"]
["C3809454","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",1437,2,"1.0"]
["C4225398","CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY",1437,2,"1.0"]
["C3280526","ARTHROGRYPOSIS, DISTAL, TYPE 1B",1436,2,"0.9249505911485285","disease of anatomical entity"]
["C3554046","LETHAL CONGENITAL CONTRACTURE SYNDROME 4",1436,2,"0.9314737620755409"]
["C0014335","Enteritis",1434,2,"0.9879426557371656","disease of anatomical entity"]
["C2677093","Inflammatory Bowel Disease 16",1434,2,"0.9879025609714773","disease of anatomical entity"]
["C0151718","Hypocholesterolemia",1433,2,"0.33012678812714935"]
["C1863551","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3",1433,2,"0.19665291281432154"]
["C1335029","Non-Neoplastic Peripheral Nervous System Disorder",1430,2,"0.5023225742943741","disease of anatomical entity"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443"]
["C1291312","Deficiency of oxidase",1429,2,"0.3943931652889704"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","disease of anatomical entity"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627","disease of anatomical entity"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285","disease of anatomical entity"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833","disease of anatomical entity"]
["C0268634","Disorder of fatty acid metabolism",1421,2,"0.4142135623730946","disease of metabolism"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736","disease of metabolism"]
["C0235831","Renal Cell Dysplasia",1419,2,"0.9997021305126301"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","genetic disease"]
["C1827377","Slow acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8526657136218124"]
["C1827820","Fast acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8345100102085748"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0","disease of anatomical entity"]
["C0086457","Industrial Dermatosis",1416,2,"1.0","disease of anatomical entity"]
["C0026780","Mumps",1414,2,"1.0","disease by infectious agent"]
["C1562585","Leprosy, Multibacillary",1414,2,"1.0"]
["C2674705","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",1413,2,"1.0"]
["C4310752","DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS",1413,2,"1.0"]
["C0271379","Convergence Insufficiency",1412,2,"1.0","disease of anatomical entity"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019","genetic disease"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019","disease of anatomical entity"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967","genetic disease"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967","disease of anatomical entity"]
["C0429468","Anovulatory (finding)",1406,2,"0.47168332213328373"]
["C1960447","Hypergonadotropic amenorrhea",1406,2,"0.7173063832417884"]
["C0272175","Immune neutropenia",1404,2,"0.6026267298452191"]
["C0272176","Alloimmune neonatal neutropenia",1404,2,"0.15755240005121957"]
["C0033770","Prune Belly Syndrome",1402,2,"1.0","syndrome"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262","disease of anatomical entity"]
["C3553060","EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",1400,2,"0.9200732965020476","disease of anatomical entity"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155","disease of anatomical entity"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006","disease of anatomical entity"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688","genetic disease"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537","genetic disease"]
["C0031115","Peripheral angiopathy in diseases classified elsewhere",1394,2,"0.6809517019828334","disease of anatomical entity"]
["C0750151","Vaso-Occlusive Crisis",1394,2,"0.7025588374726794"]
["C3808899","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4",1393,2,"0.9435324364824292","disease of metabolism"]
["C4015062","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22",1393,2,"0.9438218026003791","disease of metabolism"]
["C2700431","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE",1392,2,"1.0"]
["C3276276","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",1392,2,"1.0","disease of metabolism"]
["C0162835","Hypopigmentation disorder",1390,2,"0.2647585969412623"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146","genetic disease"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0","disease of mental health"]
["C1837893","SCHIZOPHRENIA 12",1384,2,"1.0","disease of mental health"]
["C0011876","Diabetic cataract",1383,2,"0.6845916832455673","disease of anatomical entity"]
["C1514284","Potassium Deficiency Disorder",1383,2,"0.6915367632325774","disease of metabolism"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207","disease of anatomical entity"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654","disease of anatomical entity"]
["C0752100","Autosomal Recessive Parkinsonism",1379,2,"0.27047966988755523"]
["C0752105","Parkinsonism, Juvenile",1379,2,"0.42568383807760807"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0","disease of anatomical entity"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0","disease of anatomical entity"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0","disease of anatomical entity"]
["C3553656","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB",1373,2,"1.0"]
["C0003257","Antibody Deficiency Syndrome",1372,2,"0.590638217785264","disease of anatomical entity"]
["C0021051","Immunologic Deficiency Syndromes",1372,2,"0.6290146726113154","disease of anatomical entity"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838","disease of anatomical entity"]
["C1611706","Myosclerosis",1367,2,"1.0"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0"]
["C2937300","Congenital hereditary muscular dystrophy",1366,2,"1.0","disease of anatomical entity"]
["C4225336","DYSTONIA 27",1366,2,"1.0","disease of anatomical entity"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721","disease of anatomical entity"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493","disease of anatomical entity"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143","genetic disease"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263","disease of mental health"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","disease of metabolism"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","disease of anatomical entity"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","disease of metabolism"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","disease of anatomical entity"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167","disease of anatomical entity"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806"]
["C0006271","Bronchiolitis",1352,2,"0.3312540847342675","disease of anatomical entity"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024","disease of anatomical entity"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398"]
["C0796081","Myhre syndrome",1346,2,"1.0"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599","genetic disease"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516","genetic disease"]
["C0268414","Hyperphosphatasemia with bone disease",1342,2,"0.8634178441561433"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987","disease of anatomical entity"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167","disease of anatomical entity"]
["C0040896","Trichinellosis",1338,2,"0.9676544328470965","disease by infectious agent"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109","disease of anatomical entity"]
["C0042847","Vitamin B 12 Deficiency",1337,2,"0.400561110536149"]
["C3553915","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",1337,2,"0.5571722360340035"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973","disease of anatomical entity"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595","disease of anatomical entity"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289","syndrome"]
["C4303860","Craniofacial ulnar renal syndrome",1333,2,"0.7276725189747749"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573","syndrome"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","syndrome"]
["C0036305","Schamberg Disease",1331,2,"1.0","disease of anatomical entity"]
["C0549567","Pigmentation Disorders",1331,2,"1.0","disease of anatomical entity"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974","disease of anatomical entity"]
["C0743359","Chronic ear infection",1330,2,"0.9999999999999974"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","disease of anatomical entity"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","disease of anatomical entity"]
["C3809872","PERIVENTRICULAR NODULAR HETEROTOPIA 6",1325,2,"1.0","physical disorder"]
["C4304514","6q terminal deletion syndrome",1325,2,"1.0"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545","disease of mental health"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246","disease of mental health"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","disease of anatomical entity"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085","disease of anatomical entity"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","genetic disease"]
["C3280041","RETINITIS PIGMENTOSA 61",1318,2,"0.8064481575566744","disease of anatomical entity"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191","disease of anatomical entity"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369","disease of anatomical entity"]
["C3806917","CRANIOSYNOSTOSIS 4",1314,2,"1.0","disease of anatomical entity"]
["C4310679","CHITAYAT SYNDROME",1314,2,"1.0"]
["C0085577","Normocytic anemia",1313,2,"0.43670068381445454","disease of anatomical entity"]
["C0235983","Normochromic anemia",1313,2,"0.43670068381445454"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657","disease of metabolism"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657","disease of anatomical entity"]
["C4025020","Acute hepatic steatosis",1311,2,"0.6189166498244726"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0"]
["C4014557","MYOPATHY, TUBULAR AGGREGATE, 2",1308,2,"1.0","disease of anatomical entity"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116","genetic disease"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","disease of anatomical entity"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","disease of anatomical entity"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0","disease of anatomical entity"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0","disease of anatomical entity"]
["C0348460","Other hyperaldosteronism",1303,2,"0.18878692946233366","disease of anatomical entity"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157","disease of anatomical entity"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","disease of cellular proliferation"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","disease of anatomical entity"]
["C0740898","Hypokalemic metabolic alkalosis",1302,2,"0.45535063513060364"]
["C1859844","LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)",1300,2,"1.0","disease of anatomical entity"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0","disease of anatomical entity"]
["C0152443","Urethral diverticulum",1297,2,"1.0","disease of anatomical entity"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592"]
["C3281289","TRICHOHEPATOENTERIC SYNDROME 2",1295,2,"0.5484954582860951"]
["C1859312","CAMFAK syndrome",1292,2,"1.0"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0"]
["C0020241","Hydroa Vacciniforme",1291,2,"0.9691996983110974"]
["C1833561","UV-Sensitive Syndrome",1291,2,"0.9663567408071206"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0","disease of anatomical entity"]
["C3810012","RIENHOFF SYNDROME",1286,2,"1.0"]
["C1842124","BRANCHIOOTIC SYNDROME 3 (disorder)",1285,2,"1.0","syndrome"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0","disease of anatomical entity"]
["C1833691","Otofaciocervical Syndrome",1284,2,"0.9999999999999992"]
["C2931416","Fara Chlupackova syndrome",1284,2,"0.9999999999999992"]
["C1260894","Hypertrophic obesity",1282,2,"1.0"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","disease of anatomical entity"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729","physical disorder"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831","physical disorder"]
["C0017155","Gastritis, Hypertrophic",1278,2,"0.6518707927038697","disease of anatomical entity"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","disease of anatomical entity"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947","disease of anatomical entity"]
["C0000809","Abortion, Habitual",1274,2,"0.45258826509498923"]
["C0004509","Azoospermia",1274,2,"0.17912247405891452","disease of anatomical entity"]
["C0025281","Meniere Disease",1272,2,"0.5143358249322583","disease of anatomical entity"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674","disease of anatomical entity"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525","disease of anatomical entity"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086"]
["C0235574","Intravascular hemolysis",1267,2,"0.9827146256296009"]
["C0312854","Extravascular Hemolysis",1267,2,"0.9830977683208306"]
["C0024473","Magnesium Deficiency",1264,2,"0.8519725714103367"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","disease of metabolism"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526","disease of anatomical entity"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061","disease of metabolism"]
["C4225425","ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",1261,2,"0.6681844956895604","disease of anatomical entity"]
["C4274077","Autosomal recessive sideroblastic anemia",1261,2,"0.14426450077914602"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","syndrome"]
["C3150672","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",1255,2,"0.8228974361357007","syndrome"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721"]
["C4020697","Giant cell hepatitis on liver biopsy",1254,2,"0.9674837487832815"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958","disease of metabolism"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498","disease of metabolism"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117","physical disorder"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","physical disorder"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","syndrome"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","genetic disease"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529","syndrome"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529","genetic disease"]
["C4304526","5q35 microduplication syndrome",1250,2,"0.8034306746759059"]
["C0432261","Osteopetrosis - intermediate type",1247,2,"0.7944092834839236"]
["C1969093","Osteopetrosis, Autosomal Recessive 6",1247,2,"0.85206035659522","disease of anatomical entity"]
["C1850126","Osteopetrosis, mild autosomal recessive form",1245,2,"0.8524958902742232","disease of anatomical entity"]
["C4025318","Chronic rhinitis due to narrow nasal airway",1245,2,"0.890626014422713"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038","disease of anatomical entity"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0","disease of anatomical entity"]
["C3714760","Drug-induced tardive dyskinesia",1242,2,"1.0"]
["C0276501","Human immunodeficiency virus II infection",1241,2,"0.11505819125095162"]
["C1832097","EPIDERMAL DIFFERENTIATION COMPLEX",1241,2,"0.12157183903492909"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789","disease of anatomical entity"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493","disease of anatomical entity"]
["C4225378","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY",1239,2,"1.0","genetic disease"]
["C4540355","JOUBERT SYNDROME 31",1239,2,"1.0"]
["C4225252","IMMUNODEFICIENCY 45",1237,2,"0.7883097787584327"]
["C4225260","IMMUNODEFICIENCY 44",1237,2,"0.7751681058336038"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456","disease of anatomical entity"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889","disease of anatomical entity"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0","disease of anatomical entity"]
["C3280845","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",1234,2,"1.0","disease of anatomical entity"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987","genetic disease"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588","genetic disease"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","genetic disease"]
["C0687120","Nephronophthisis",1231,2,"0.3691188545802995","genetic disease"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486","disease of anatomical entity"]
["C3887499","Renal cyst",1229,2,"0.47156372814058795","disease of anatomical entity"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","genetic disease"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","genetic disease"]
["C0265215","Meckel-Gruber syndrome",1225,2,"0.3836049514725714"]
["C1853235","Sclerocornea",1225,2,"0.5256736191656237","disease of anatomical entity"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648","disease of anatomical entity"]
["C3150874","CRANIOECTODERMAL DYSPLASIA 2",1219,2,"0.9603897250236316","genetic disease"]
["C3279792","SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY",1219,2,"0.9599874819609588","genetic disease"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0"]
["C4012268","TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",1216,2,"1.0"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117","disease of metabolism"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901","disease of metabolism"]
["C0265354","CHARGE Syndrome",1214,2,"0.9191471251905701","syndrome"]
["C2936502","Familial CHARGE Syndrome",1214,2,"0.9003052600390744","syndrome"]
["C2675302","KALLMANN SYNDROME 5 (disorder)",1213,2,"1.0"]
["C3552553","HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA",1213,2,"1.0","disease of anatomical entity"]
["C1970440","CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)",1212,2,"1.0","disease of anatomical entity"]
["C4225231","TOOTH AGENESIS, SELECTIVE, 7",1212,2,"1.0"]
["C2910126","Patent or persistent ostium secundum defect (type II)",1209,2,"1.0","disease of anatomical entity"]
["C2910127","Patent or persistent sinus venosus defect",1209,2,"1.0","disease of anatomical entity"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266","disease of metabolism"]
["C3280679","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",1202,2,"1.0"]
["C3541476","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",1202,2,"1.0"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","disease of anatomical entity"]
["C3489704","Vision Disability",1200,2,"0.897731631073227"]
["C1843315","Neuronopathy, Distal Hereditary Motor, Type Viib",1197,2,"0.9960557128089368"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412","syndrome"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865","genetic disease"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146","genetic disease"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0"]
["C1849695","Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency",1191,2,"1.0"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996","disease of anatomical entity"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996","disease of anatomical entity"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658","disease of anatomical entity"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","disease of metabolism"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","disease of metabolism"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","disease of metabolism"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692","disease of metabolism"]
["C0266427","Testicular regression syndrome",1179,2,"1.0"]
["C4510744","46,XY partial gonadal dysgenesis",1179,2,"1.0"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0"]
["C3280797","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",1174,2,"1.0","disease of anatomical entity"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943","disease of metabolism"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943","disease of metabolism"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","disease of metabolism"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","disease of anatomical entity"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098","disease of metabolism"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098","disease of anatomical entity"]
["C0268613","Disorder of sulfur-bearing amino acid metabolism",1164,2,"0.8385223249579978","disease of metabolism"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066","disease of metabolism"]
["C0521857","Increased drug resistance",1162,2,"1.0"]
["C4540293","IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",1162,2,"1.0"]
["C0007196","Restrictive cardiomyopathy",1159,2,"0.4540983319334666","disease of anatomical entity"]
["C0348616","Other restrictive cardiomyopathy",1159,2,"0.7425494796420091","disease of anatomical entity"]
["C0342543","Central Precocious Puberty",1158,2,"0.25321663309340026"]
["C0342544","Idiopathic central precocious puberty",1158,2,"0.5940290300661761"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0","disease of metabolism"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0","disease of metabolism"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739","genetic disease"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","syndrome"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","genetic disease"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","disease of anatomical entity"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278","disease of anatomical entity"]
["C0264413","Late onset asthma",1153,2,"0.8130589681681095","disease of anatomical entity"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728","disease of anatomical entity"]
["C4275024","Spinocerebellar ataxia type 8",1149,2,"0.6578129948411049"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021","disease of anatomical entity"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554","disease of anatomical entity"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","disease of anatomical entity"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265","disease of anatomical entity"]
["C0033817","Pseudomonas Infections",1136,2,"0.9736862246271955"]
["C0854135","Pseudomonas aeruginosa infection",1136,2,"0.970674399737973"]
["C0021847","Intestinal Pseudo-Obstruction",1124,2,"0.40317560541625125","disease of anatomical entity"]
["C0030446","Paralytic Ileus",1124,2,"0.5217970390924583","disease of anatomical entity"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528","genetic disease"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114","genetic disease"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281","disease of anatomical entity"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0","disease of anatomical entity"]
["C3280342","STICKLER SYNDROME, TYPE V",1101,2,"1.0"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","syndrome"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","genetic disease"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","disease of anatomical entity"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684"]
["C3711376","Isodicentric Chromosome 15 Syndrome",1097,2,"0.4164850544134028"]
["C4310712","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43",1097,2,"0.1761085741518913"]
["C3810313","DOWLING-DEGOS DISEASE 4",1096,2,"1.0","disease of anatomical entity"]
["C4310660","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",1096,2,"1.0"]
["C1865295","Auriculo-condylar syndrome",1095,2,"0.22596025311926737"]
["C3553404","AURICULOCONDYLAR SYNDROME 2",1095,2,"0.5800479358559968"]
["C2677338","Cardiomyopathy, Dilated, 1AA",1091,2,"1.0","disease of anatomical entity"]
["C4225403","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",1091,2,"1.0"]
["C0343055","Generalized pustular psoriasis",1089,2,"0.573505897743746","disease of anatomical entity"]
["C0392439","Acrodermatitis continua of Hallopeau",1089,2,"0.6034108222593161","disease of anatomical entity"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0"]
["C0008489","Chorea",1087,2,"0.5817541337085892","disease of mental health"]
["C0008489","Chorea",1087,2,"0.5817541337085892","disease of anatomical entity"]
["C4020858","Choreatic disease",1087,2,"0.797168543895444"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281"]
["C1863062","Episodic quadriplegia",1079,2,"0.5435616645304149"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279","disease of anatomical entity"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523","disease of anatomical entity"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619","disease of metabolism"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745","disease of metabolism"]
["C3809606","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",1072,2,"0.8631453698009163","disease of anatomical entity"]
["C4479569","NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS",1072,2,"0.8886491791176292"]
["C0020617","Hypoglycemic coma",1067,2,"0.2767185585329721","disease of anatomical entity"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002","disease of metabolism"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217"]
["C3150617","Maturity-onset diabetes of the young, type 10",1065,2,"0.9507603149588209","genetic disease"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348","disease of metabolism"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348","genetic disease"]
["C1865290","Hyperinsulinemic hypoglycemia, familial, 3",1063,2,"0.8545320016886053","disease of metabolism"]
["C1960469","Left ventricular noncompaction",1058,2,"0.5811015942894953"]
["C4021133","Left ventricular noncompaction cardiomyopathy",1058,2,"0.5235726950831312"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0","disease of metabolism"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444","disease of metabolism"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602","disease of metabolism"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602","disease of anatomical entity"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","disease of metabolism"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","disease of anatomical entity"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377","disease of metabolism"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159","disease of anatomical entity"]
["C4304505","8p11.2 deletion syndrome",1051,2,"0.8662695367980746"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622","disease of anatomical entity"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565"]
["C1138434","Genetic Diseases, X-Linked",1045,2,"0.9979955756181758"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258"]
["C0343386","Clostridium difficile infection",1044,2,"0.9744737905593374"]
["C1411966","Clostridium"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0"]
["C2955673","Urate nephropathy",1043,2,"1.0","disease of anatomical entity"]
["C0393706","Early infantile epileptic encephalopathy with suppression bursts",1042,2,"0.15288439742569668"]
["C2677326","Epileptic Encephalopathy, Early Infantile, 4",1042,2,"0.18722178804574632","disease of anatomical entity"]
["C0159020","Convulsions in the newborn",1034,2,"0.3782057960325707"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147","disease of anatomical entity"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0","genetic disease"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","disease of anatomical entity"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625","genetic disease"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908","syndrome"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204","syndrome"]
["C1857627","Chorioretinal dystrophy",1018,2,"0.2991993329525742"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102"]
["C4021592","Unilateral primary pulmonary dysgenesis",1017,2,"0.5543990106061871"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984","disease of anatomical entity"]
["C3806554","Dysseborrheic dermatitis",1015,2,"0.9999999999999984"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","syndrome"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","genetic disease"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","syndrome"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","genetic disease"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","disease of metabolism"]
["C4015019","NEU-LAXOVA SYNDROME 2",1009,2,"1.0","disease of metabolism"]
["C1859709","Kuskokwim disease",1007,2,"1.0","syndrome"]
["C3151218","OSTEOGENESIS IMPERFECTA, TYPE XI",1007,2,"1.0","disease of anatomical entity"]
["C0012754","Distemper",1005,2,"1.0"]
["C3150807","ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",1005,2,"1.0"]
["C0263449","Perioral Dermatitis",1004,2,"0.918465657485471","disease of anatomical entity"]
["C3714948","PACHYONYCHIA CONGENITA 3",1004,2,"0.9199167778120383"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0","disease of anatomical entity"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0","disease of anatomical entity"]
["C0311338","Fundus Albipunctatus",1000,2,"0.9505547627879886","disease of anatomical entity"]
["C1405854","Retinitis punctata albescens (disorder)",1000,2,"0.9385325537583171","disease of anatomical entity"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651","disease of anatomical entity"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895","disease of anatomical entity"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0"]
["C3539888","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",997,2,"1.0","disease of anatomical entity"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774","genetic disease"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774","disease of anatomical entity"]
["C4014414","MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",992,2,"0.7739230884715675","disease of mental health"]
["C4310683","DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",992,2,"0.8463529097363073"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0","disease of cellular proliferation"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0","disease of anatomical entity"]
["C4225280","NOONAN SYNDROME 10",991,2,"1.0","syndrome"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0","disease of anatomical entity"]
["C4014795","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",989,2,"1.0"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691","disease of anatomical entity"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292","disease of anatomical entity"]
["C2750074","Rhabdoid Tumor Predisposition Syndrome 2",987,2,"0.7495043829608568"]
["C3553249","COFFIN-SIRIS SYNDROME 4",987,2,"0.47691184087043675","disease of mental health"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","disease of anatomical entity"]
["C0559506","Neonatal unconjugated hyperbilirubinemia",980,2,"0.9629535304817508"]
["C0268199","Familial apolipoprotein C-II deficiency",979,2,"0.8627265902538743"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627","disease of metabolism"]
["C0221252","Eruptive xanthoma",976,2,"0.427639577192762"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656"]
["C3151853","MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE",973,2,"0.9819746152502863"]
["C0017605","Angle Closure Glaucoma",970,2,"0.7049276108717428","disease of anatomical entity"]
["C0017606","Primary angle-closure glaucoma",970,2,"0.6557167140677719","disease of anatomical entity"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0"]
["C1837552","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",966,2,"1.0","disease of anatomical entity"]
["C3554428","OSTEOGENESIS IMPERFECTA, TYPE XIV",964,2,"0.654748724664011","disease of anatomical entity"]
["C3808844","OSTEOGENESIS IMPERFECTA, TYPE XV",964,2,"0.6333018672635082","disease of anatomical entity"]
["C1847640","KUFOR-RAKEB SYNDROME",962,2,"1.0","disease of anatomical entity"]
["C4310662","SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",962,2,"1.0"]
["C0863106","Afebrile seizure",957,2,"0.3731672679933728"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","disease of anatomical entity"]
["C0339652","Vertical gaze palsy",955,2,"0.9999999999999996"]
["C1843369","Vertical supranuclear gaze palsy",955,2,"0.9999999999999996"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","disease of metabolism"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","disease of anatomical entity"]
["C2231324","Brucellosis, Pulmonary",954,2,"1.0","disease by infectious agent"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","disease of metabolism"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","disease of anatomical entity"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","disease of metabolism"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","disease of anatomical entity"]
["C0156344","Endometriosis of ovary",946,2,"0.4491920550752994","disease of anatomical entity"]
["C3809250","ESTROGEN RESISTANCE",946,2,"0.6067590309594577"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078","disease of metabolism"]
["C3888081","L-2-hydroxyglutaric acidemia",943,2,"0.993142425952035","disease of metabolism"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193"]
["C2936859","N syndrome",939,2,"0.9958996947077335"]
["C0796275","Brunner Syndrome",935,2,"1.0","disease of metabolism"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669","disease of anatomical entity"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489","disease of anatomical entity"]
["C2608083","Cholestasis, benign recurrent intrahepatic 2",932,2,"0.9994309680168438","disease of anatomical entity"]
["C3489789","Cholestasis, Progressive Familial Intrahepatic, 2",932,2,"0.9994311095138338","disease of anatomical entity"]
["C3549845","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",931,2,"1.0","disease of anatomical entity"]
["C4025019","Intrahepatic cholestasis with episodic jaundice",931,2,"1.0"]
["C0745744","End Stage Liver Disease",928,2,"0.9250287157626629"]
["C2936476","Chronic Liver Failure",928,2,"0.9279305560035096"]
["C3275685","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2",927,2,"1.0"]
["C3275686","CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY",927,2,"1.0"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823","disease of anatomical entity"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733","disease of anatomical entity"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","syndrome"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715","disease of anatomical entity"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188","disease of anatomical entity"]
["C0014458","Eosinophilia, Tropical",919,2,"0.6779891694267985","disease of anatomical entity"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063","genetic disease"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872","physical disorder"]
["C3888212","SECKEL SYNDROME 4",911,2,"0.4686864890208793","genetic disease"]
["C3553582","SECKEL SYNDROME 6",910,2,"0.8360149084189106","genetic disease"]
["C3891452","SECKEL SYNDROME 8",910,2,"0.8086943833531022","genetic disease"]
["C0007930","Chagas Cardiomyopathy",909,2,"0.7229817457473199"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146","disease of metabolism"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","syndrome"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","genetic disease"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","disease of anatomical entity"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534","genetic disease"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534","disease of anatomical entity"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364","disease of anatomical entity"]
["C3277076","BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",901,2,"0.9772185373047375","disease of anatomical entity"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0","disease of anatomical entity"]
["C4225248","SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",898,2,"1.0"]
["C0796221","MENTAL RETARDATION, X-LINKED 15",890,2,"0.9946567719011925","disease of mental health"]
["C3887959","MENTAL RETARDATION, X-LINKED 49",890,2,"0.9952526709315459","disease of mental health"]
["C1835928","CARDIOMYOPATHY, DILATED, 1P",889,2,"0.9937171881860674","disease of anatomical entity"]
["C3151265","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",889,2,"0.9938162969982599","disease of anatomical entity"]
["C0920646","Ischemia of kidney",888,2,"0.23747759747484204"]
["C0920715","Myocardial hypoxia",888,2,"0.18202164255493047"]
["C0031030","Periapical Periodontitis",887,2,"0.40992645799122546","disease of anatomical entity"]
["C0524686","Periodontitis, Acute Nonsuppurative",887,2,"0.2635987595030968","disease of anatomical entity"]
["C3150344","HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",884,2,"0.5966922944141666","disease of metabolism"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","disease of metabolism"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863","disease of metabolism"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127"]
["C3280976","Thrombophilia due to Thrombomodulin Defect",879,2,"0.6083443841351104","disease of anatomical entity"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0","disease of anatomical entity"]
["C3553944","USHER SYNDROME, TYPE IJ",877,2,"1.0","genetic disease"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0","syndrome"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","genetic disease"]
["C1860157","Elejalde Disease",872,2,"1.0"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568","disease of anatomical entity"]
["C4049342","Foot osteomyelitis",870,2,"0.693176807610238"]
["C0405578","Gigantism and acromegaly",867,2,"1.0","disease of anatomical entity"]
["C4521132","ACROMEGALY DUE TO PITUITARY ADENOMA 1",867,2,"1.0"]
["C2676439","USHER SYNDROME, TYPE IIB, FORMERLY",866,2,"0.9999999999999983","genetic disease"]
["C3148929","USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",866,2,"0.9999999999999983","genetic disease"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0","disease of metabolism"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0","disease of metabolism"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0","disease of anatomical entity"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0","disease of anatomical entity"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","genetic disease"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","genetic disease"]
["C0040127","Thyroid Crisis",856,2,"0.5493164845774884","disease of anatomical entity"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836","disease of anatomical entity"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115","disease of anatomical entity"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921","disease of anatomical entity"]
["C4023211","Adrenocorticotropin deficient adrenal insufficiency",854,2,"0.32252306691722366"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384"]
["C4014425","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",853,2,"1.0","disease of anatomical entity"]
["C4016748","CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC",853,2,"1.0"]
["C3539003","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",849,2,"0.7320508075688765","disease of anatomical entity"]
["C3809470","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",849,2,"0.8472422208337105","disease of anatomical entity"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633","disease of metabolism"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711","disease of metabolism"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0","disease of anatomical entity"]
["C2751309","Achromatopsia 5",847,2,"1.0","disease of anatomical entity"]
["C2680446","SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",846,2,"1.0","disease of anatomical entity"]
["C3280371","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4",846,2,"1.0","disease of anatomical entity"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","disease of anatomical entity"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","disease of anatomical entity"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0","disease of anatomical entity"]
["C3164344","Adult onset autosomal dominant leukodystrophy",840,2,"1.0","disease of anatomical entity"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0"]
["C1867326","RETINAL CONE DYSTROPHY 1",838,2,"1.0","disease of anatomical entity"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0"]
["C4014831","VESICOURETERAL REFLUX 8",837,2,"1.0","disease of anatomical entity"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0","disease of anatomical entity"]
["C3151293","CARDIOMYOPATHY, DILATED, 1HH",834,2,"1.0","disease of anatomical entity"]
["C0023308","Lens Diseases",831,2,"0.3716897644346344","disease of anatomical entity"]
["C1854065","LATE-ONSET RETINAL DEGENERATION (disorder)",831,2,"0.618030620635236","disease of anatomical entity"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","genetic disease"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","genetic disease"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743","disease of anatomical entity"]
["C0677659","Gastro-esophageal reflux disease with esophagitis",819,2,"0.5747628024909952","disease of anatomical entity"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277","disease of anatomical entity"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","genetic disease"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0","disease of anatomical entity"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994","disease of anatomical entity"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994","disease of anatomical entity"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0","disease of metabolism"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0"]
["C0270853","Juvenile Myoclonic Epilepsy",805,2,"0.8183164185537508","disease of anatomical entity"]
["C0393676","Panayiotopoulos Syndrome",805,2,"0.773773876807001","disease of anatomical entity"]
["C3544092","Urgency frequency syndrome",804,2,"0.9983310779247285"]
["C4020898","Overactive bladder syndrome",804,2,"0.99833219605315"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117","disease of anatomical entity"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0"]
["C0206526","Tuberculosis, Multidrug-Resistant",801,2,"0.5857143019959369","disease by infectious agent"]
["C2959467","Tuberculous pleural effusion",801,2,"0.6220428423581812"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0","disease of anatomical entity"]
["C3151440","PITUITARY HORMONE DEFICIENCY, COMBINED, 6",797,2,"1.0","disease of anatomical entity"]
["C3150819","RETINITIS PIGMENTOSA 56",796,2,"0.839130207283061","disease of anatomical entity"]
["C4015343","MACULAR DYSTROPHY, VITELLIFORM, 5",796,2,"0.7058832043421653","disease of anatomical entity"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","genetic disease"]
["C3151138","RETINITIS PIGMENTOSA 39 (disorder)",790,2,"0.9034325027409735","disease of anatomical entity"]
["C0393738","Chronic tension-type headache",787,2,"1.0"]
["C0522254","Analgesic Overuse Headache",787,2,"1.0"]
["C3554047","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",786,2,"1.0","disease of anatomical entity"]
["C4015671","LONG QT SYNDROME 14",786,2,"1.0","disease of anatomical entity"]
["C0030326","Panniculitis",781,2,"0.22850361610122386","disease of anatomical entity"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946","disease of anatomical entity"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679","disease of anatomical entity"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0","disease of anatomical entity"]
["C3810401","ATRIAL STANDSTILL 2",779,2,"1.0"]
["C0340489","Lone atrial fibrillation",775,2,"0.20797013810246612"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","disease of metabolism"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","genetic disease"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","disease of anatomical entity"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696","disease of metabolism"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696","genetic disease"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0","disease of anatomical entity"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0","disease of anatomical entity"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125","disease of anatomical entity"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393","disease of anatomical entity"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836","disease of anatomical entity"]
["C3887654","POLYARTERITIS NODOSA, CHILDHOOD-ONSET",758,2,"0.9992679579442352"]
["C0220754","Biotinidase Deficiency",750,2,"1.0","disease of metabolism"]
["C1854698","Multiple Carboxylase Deficiency, Juvenile-Onset",750,2,"1.0"]
["C0014852","Esophageal Diseases",748,2,"0.6611022496549224","disease of anatomical entity"]
["C0085648","Synovial Cyst",748,2,"0.5884721565011979"]
["C0010398","Cruveilhier-Baumgarten Syndrome",747,2,"0.25302478234126086","disease of anatomical entity"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364","disease of anatomical entity"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471","disease of anatomical entity"]
["C4014700","ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",744,2,"0.9985938757440144"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699","disease of anatomical entity"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956","disease of anatomical entity"]
["C0020473","Hyperlipidemia",741,2,"0.416870097433047","disease of metabolism"]
["C0020476","Hyperlipoproteinemias",741,2,"0.5276146831771171","disease of metabolism"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","disease of anatomical entity"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078","disease of anatomical entity"]
["C0205700","Asymmetric Septal Hypertrophy",732,2,"0.7739861564546344","disease of anatomical entity"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524","disease of anatomical entity"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878","disease of anatomical entity"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715","disease of anatomical entity"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151","disease of anatomical entity"]
["C1858763","Cardiomyopathy, Dilated, 1g",729,2,"0.9999999999997151","disease of anatomical entity"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627","disease of anatomical entity"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932","disease of metabolism"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932","disease of metabolism"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089","disease of metabolism"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727","disease of metabolism"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0"]
["C1839413","Pyruvate Dehydrogenase E1 Alpha Deficiency",721,2,"1.0","disease of metabolism"]
["C0410445","Osteomalacia secondary to drug",712,2,"0.4864035305026815"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533","disease of anatomical entity"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","disease of anatomical entity"]
["C3150652","FANCONI RENOTUBULAR SYNDROME 2",711,2,"1.0","disease of anatomical entity"]
["C4310232","Hypercalcemia, Infantile, 1",710,2,"0.7669843524860251"]
["C4310473","Hypercalcemia, infantile, 2",710,2,"0.20583087736403713"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734","disease of metabolism"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734","disease of anatomical entity"]
["C0026141","Milk-Alkali Syndrome",709,2,"0.8043957909327021","disease of metabolism"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","disease of anatomical entity"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411","disease of anatomical entity"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552","disease of metabolism"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552","disease of anatomical entity"]
["C1863512","HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",704,2,"0.9884476400487494","disease of metabolism"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147"]
["C0006277","Bronchitis",700,2,"0.9938496747180657","disease of anatomical entity"]
["C0149514","Acute bronchitis",700,2,"0.9938503080083153","disease of anatomical entity"]
["C4014722","STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",699,2,"1.0"]
["C4040879","STING-associated vasculopathy with onset in infancy",699,2,"1.0"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292"]
["C3665704","Congenital reticular ichthyosiform erythroderma",698,2,"0.6975931161326213"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379"]
["C1862005","Epidermolytic Hyperkeratosis, Late-Onset",697,2,"0.8995467019257061"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711","disease of anatomical entity"]
["C0596992","myelinopathy",693,2,"0.7218266850127371"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741","disease of anatomical entity"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178","disease of anatomical entity"]
["C3551756","NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT",692,2,"0.9615248209387778"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398","disease of anatomical entity"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285","disease of anatomical entity"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956","disease of anatomical entity"]
["C3553549","POROKERATOSIS 7, MULTIPLE TYPES",686,2,"0.5835054583215198"]
["C0011303","Demyelinating Diseases",685,2,"0.7752290377018304","disease of anatomical entity"]
["C2350037","Clinically Isolated Syndrome, CNS Demyelinating",685,2,"0.7423947339652351","disease of anatomical entity"]
["C0521736","Lower eyelid ectropion",676,2,"0.3445350331475028"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465"]
["C0038826","Superinfection",672,2,"0.4660447112480546"]
["C0375021","Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",672,2,"0.5591932666714367"]
["C0024266","Lymphocytic Choriomeningitis",671,2,"0.7779065358730058","disease by infectious agent"]
["C0153014","Non-arthropod borne lymphocytic choriomeningitis",671,2,"0.8001508084484671","disease by infectious agent"]
["C0038362","Stomatitis",664,2,"0.8475133864211715","disease of anatomical entity"]
["C1568868","Oral Mucositis",664,2,"0.8350957420433578","disease of anatomical entity"]
["C0271826","Iodide transport defect",663,2,"0.6882466465469741"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907","disease of anatomical entity"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754","disease of anatomical entity"]
["C4020805","Athyroidal hypothyroidism",661,2,"0.5241414839373812"]
["C0268193","NADH cytochrome B5 reductase deficiency",659,2,"0.4036750004034327","disease of metabolism"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162","disease of anatomical entity"]
["C0272320","Hereditary factor VII deficiency disease",655,2,"0.9809362143502084"]
["C0034734","Raynaud Disease",654,2,"0.9999999999999978","disease of anatomical entity"]
["C0034735","Raynaud Phenomenon",654,2,"0.9999999999999978","disease of anatomical entity"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457","disease of anatomical entity"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588"]
["C0008533","Hemophilia B",642,2,"0.966245300359561","disease of anatomical entity"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875","genetic disease"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322","genetic disease"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","disease of anatomical entity"]
["C3810365","Central visual impairment",638,2,"0.9776886371551199"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","disease of anatomical entity"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0"]
["C2751288","Neutropenia, Severe Congenital, Autosomal Dominant 2",634,2,"1.0","disease of anatomical entity"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","disease of anatomical entity"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","disease of anatomical entity"]
["C4310751","SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",632,2,"0.8423192739130502"]
["C0154841","Central retinal vein occlusion",630,2,"1.0","disease of anatomical entity"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0","disease of anatomical entity"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433","disease of anatomical entity"]
["C0155119","Recurrent erosion of cornea",629,2,"0.2650551126554656","disease of anatomical entity"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834","disease of anatomical entity"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201","disease of anatomical entity"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271","disease of anatomical entity"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634","disease of anatomical entity"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193"]
["C0155241","Lacrimal mucocele",621,2,"0.7862345793723479","disease of anatomical entity"]
["C1867060","Lacrimal Puncta, Absence of",621,2,"0.6146774849779518"]
["C0015302","External exotoses",618,2,"0.6444798448047331","disease of anatomical entity"]
["C0432282","Dysplasia epiphysealis hemimelica",618,2,"0.7963893485560049"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828","disease of metabolism"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801","disease of anatomical entity"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775","disease of anatomical entity"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291","disease of anatomical entity"]
["C0730290","Cone dystrophy",609,2,"0.8513923630406093"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339","disease of anatomical entity"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754","disease of anatomical entity"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072","genetic disease"]
["C2930971","Acroosteolysis dominant type",607,2,"0.9987308376921606"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782","disease of anatomical entity"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235","disease of anatomical entity"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305","disease of anatomical entity"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539","disease of anatomical entity"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009","disease of anatomical entity"]
["C0043345","Xeroderma",601,2,"0.1663235688718565","disease of anatomical entity"]
["C2930996","Muscular dystrophy, tardive Emery-Dreifuss type, with contractures",595,2,"1.0"]
["C4023180","Type 1 muscle fiber atrophy",595,2,"1.0"]
["C3890205","Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative",591,2,"0.999653788395011","disease of anatomical entity"]
["C3898105","Oligoarticular Juvenile Idiopathic Arthritis",591,2,"0.9996546390765393"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878","disease of anatomical entity"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663","physical disorder"]
["C0265345","Lymphedema distichiasis syndrome",583,2,"1.0"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0"]
["C4225315","RETINITIS PIGMENTOSA 72",581,2,"1.0","disease of anatomical entity"]
["C4225316","EXUDATIVE VITREORETINOPATHY 6",581,2,"1.0"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0","disease of anatomical entity"]
["C3151060","Macular Degeneration, Age-Related, 6",580,2,"1.0","disease of anatomical entity"]
["C0271093","Stargardt\\'s disease",574,2,"0.974571387466299","disease of anatomical entity"]
["C1855465","STARGARDT DISEASE 1 (disorder)",574,2,"0.9748124424696775","disease of anatomical entity"]
["C4021559","Retinitis pigmentosa inversa",573,2,"0.7487472823872741"]
["C4282180","Juvenile macular degeneration",573,2,"0.4479718180457302","disease of anatomical entity"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204","disease of anatomical entity"]
["C4020734","Nystagmus, continuous pendular",570,2,"0.6720572290839278"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085","disease of anatomical entity"]
["C3887980","COLORBLINDNESS, PARTIAL, PROTAN SERIES",568,2,"0.5912784469348508","disease of anatomical entity"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","disease of anatomical entity"]
["C0858618","Dyschromatopsia",567,2,"0.6626440512016597"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996","physical disorder"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996","physical disorder"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0"]
["C1856719","Kininogen Deficiency, Total",560,2,"1.0"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161","disease of anatomical entity"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646"]
["C3151078","Complement Component C1s Deficiency",556,2,"1.0"]
["C4310681","EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",556,2,"1.0"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028"]
["C1960272","Latent autoimmune diabetes mellitus in adult",555,2,"0.5755643200635913"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0","disease of metabolism"]
["C4015214","CTLA4 Haploinsufficiency",554,2,"1.0"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0","disease of anatomical entity"]
["C3887639","Autoimmune gastritis",553,2,"1.0","disease of anatomical entity"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","syndrome"]
["C1843003","MITRAL VALVE PROLAPSE, MYXOMATOUS 2",550,2,"0.7745867661635375","disease of anatomical entity"]
["C3809875","VAN MALDERGEM SYNDROME 2",549,2,"1.0","syndrome"]
["C4014939","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2",549,2,"1.0","disease of anatomical entity"]
["C3150898","CARDIOMYOPATHY, DILATED, 1GG",546,2,"1.0","disease of anatomical entity"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0","disease of cellular proliferation"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0","disease of anatomical entity"]
["C0270786","Binswanger Disease",545,2,"1.0","disease of mental health"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0","disease of mental health"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0","disease of mental health"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0","disease of mental health"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","disease of anatomical entity"]
["C4476521","Renal glomerular fibrosis",539,2,"0.5796800734151006"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552","disease of anatomical entity"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438","disease of anatomical entity"]
["C0020550","Hyperthyroidism",533,2,"0.5310963689084658","disease of anatomical entity"]
["C3714618","Primary Hyperthyroidism",533,2,"0.49638561391152536","disease of anatomical entity"]
["C0022593","Keratosis",532,2,"0.9765912444509646","disease of anatomical entity"]
["C0022594","Keratosis Blennorrhagica",532,2,"0.9810459660205855","disease of anatomical entity"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688","disease of anatomical entity"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777","disease of anatomical entity"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089","disease of anatomical entity"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773","disease by infectious agent"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0"]
["C3553330","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",519,2,"0.9233168059257613","disease of anatomical entity"]
["C4015095","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",519,2,"0.9339192086255407","disease of anatomical entity"]
["C3808964","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",517,2,"0.9577822444510047","disease of anatomical entity"]
["C4015184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",517,2,"0.9623600204742797","disease of anatomical entity"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","disease of anatomical entity"]
["C3150414","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6",516,2,"0.7046555751397945","disease of anatomical entity"]
["C0033626","Protein Deficiency",510,2,"0.6459081826906153"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763","disease of anatomical entity"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158","disease of anatomical entity"]
["C3553720","CFHR5 DEFICIENCY",508,2,"0.6198948742524636"]
["C4055342","C3 Glomerulonephritis",508,2,"0.24228411941257433"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357","disease of anatomical entity"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656","disease of anatomical entity"]
["C3150215","CHROMOSOME 6q24-q25 DELETION SYNDROME",504,2,"1.0","genetic disease"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0","syndrome"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0","genetic disease"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977"]
["C2609260","Caudal dysplasia syndrome",502,2,"0.4903697787021711"]
["C0236124","Gastrointestinal obstruction",501,2,"1.0"]
["C1867775","Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation",501,2,"1.0"]
["C2674127","LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)",497,2,"1.0"]
["C2931764","Furlong syndrome",497,2,"1.0"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0","disease of mental health"]
["C3275356","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",492,2,"1.0"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","syndrome"]
["C3698541","Ohdo syndrome, Maat-Kievit-Brunner type",491,2,"0.9805706382908068","syndrome"]
["C0271642","Fibrocalculous pancreatic diabetes",483,2,"0.8024504376285998"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229"]
["C0036130","Salpingitis",480,2,"1.0","disease of anatomical entity"]
["C0340238","Infectious disorder of bronchus",480,2,"1.0"]
["C3279947","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",478,2,"0.8876140883947304","disease of anatomical entity"]
["C3279974","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",478,2,"0.9213497530746388","disease of anatomical entity"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084","disease of anatomical entity"]
["C1842026","GLAUCOMA 1, OPEN ANGLE, E",472,2,"1.0","disease of anatomical entity"]
["C3150692","AMYOTROPHIC LATERAL SCLEROSIS 12",472,2,"1.0","disease of anatomical entity"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307","disease of anatomical entity"]
["C0423325","Ectropion uveae",468,2,"0.2931796476185303"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739","disease of anatomical entity"]
["C3854315","Pseudoprimary hyperaldosteronism",466,2,"0.6278966923236721"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522","disease of anatomical entity"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266","disease of anatomical entity"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731"]
["C0268360","Osteogenesis imperfecta, recessive perinatal lethal",462,2,"0.6800758704992528"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732","disease of anatomical entity"]
["C2930812","Generalized elastolysis",460,2,"0.6973716491077706"]
["C1394691","Bowel diverticula",456,2,"0.9999999999999993"]
["C1395674","Bowel diverticulosis",456,2,"0.9999999999999993"]
["C0003499","Supravalvular aortic stenosis",455,2,"0.6775986019638545","disease of anatomical entity"]
["C1305147","Congenital supravalvular aortic stenosis",455,2,"0.6875930283334726"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965"]
["C3276539","CUTIS LAXA, AUTOSOMAL DOMINANT 1",454,2,"0.38907494172645524","disease of anatomical entity"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773","genetic disease"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128","genetic disease"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243","genetic disease"]
["C1856441","Late onset congenital glaucoma",446,2,"1.0"]
["C4310623","ANTERIOR SEGMENT DYSGENESIS 6",446,2,"1.0"]
["C1533041","Primary congenital glaucoma",443,2,"0.8045052695033835"]
["C1832977","GLAUCOMA 3, PRIMARY INFANTILE, B",443,2,"0.8418411033992419"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268"]
["C1856184","HEMIHYPERPLASIA, ISOLATED",441,2,"0.08434478187202335"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","disease of anatomical entity"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","disease of anatomical entity"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786","disease of metabolism"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506","disease of metabolism"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208","disease of anatomical entity"]
["C0240066","Iron deficiency",431,2,"0.1532600255712564"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","disease of metabolism"]
["C1276127","Sporadic porphyria cutanea tarda",430,2,"0.5563569852247574"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045","disease of metabolism"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045","disease of anatomical entity"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419","disease of metabolism"]
["C0017086","Gangrene",426,2,"0.5899649644787076"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093","syndrome"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093","disease of anatomical entity"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649","disease of anatomical entity"]
["C3150958","Cardiomyopathy, Dilated, 1V",419,2,"0.8644843533259763","disease of anatomical entity"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219","disease of anatomical entity"]
["C1841659","Atrioventricular nodal disease",418,2,"0.44628644725636907"]
["C1969115","GALLBLADDER DISEASE 4",417,2,"0.5070206533678672","disease of anatomical entity"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653","disease of anatomical entity"]
["C1848486","Premature arteriosclerosis",415,2,"0.9999999999999967"]
["C4280503","Premature hardening of arteries",415,2,"0.9999999999999967"]
["C0342881","Familial hypercholesterolemia - homozygous",414,2,"0.9950686441998615"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369","disease of anatomical entity"]
["C3150972","NEUROPATHY, HEREDITARY SENSORY, TYPE ID",413,2,"0.586520528858976","disease of anatomical entity"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443","genetic disease"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0"]
["C4225412","Spondylo-ocular syndrome",410,2,"1.0"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775"]
["C0854145","Feeding Disorders",408,2,"0.6376287887875876"]
["C0015930","Fetal Distress",407,2,"0.45256406260740734","disease of anatomical entity"]
["C0033575","Prostatic Diseases",407,2,"0.27536877547810695","disease of anatomical entity"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265","disease of anatomical entity"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894","disease of anatomical entity"]
["C0002897","Anemia, Splenic",403,2,"0.5425821165873709","disease of anatomical entity"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868","disease of anatomical entity"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253","disease of anatomical entity"]
["C0221262","Poliosis",402,2,"0.15104698983732226"]
["C0342680","Klein-Waardenberg\\'s syndrome",400,2,"1.0"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0"]
["C0079661","Klein\\'s Syndrome",399,2,"0.4695045680263902","genetic disease"]
["C1847800","Waardenburg Syndrome Type 1",399,2,"0.36030594134845584","genetic disease"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959"]
["C1863198","ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9720885679905467","genetic disease"]
["C0264955","Idiopathic arterial calcification of infancy",392,2,"0.8787091073698305"]
["C1859727","Arterial calcification of infancy",392,2,"0.7463705437855592","disease of anatomical entity"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","disease of anatomical entity"]
["C4024631","Renal hypophosphatemia",390,2,"0.4754203404321968"]
["C0518988","Dental abscess",389,2,"1.0","disease of anatomical entity"]
["C1282952","Enthesitis",389,2,"1.0"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272","disease of metabolism"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924","disease of anatomical entity"]
["C0340543","Familial primary pulmonary hypertension",384,2,"0.2731814749495957","disease of anatomical entity"]
["C1701939","Familial pulmonary arterial hypertension",384,2,"0.6003141436099456"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512","disease of anatomical entity"]
["C3887658","PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",381,2,"0.9080891088792171","disease of anatomical entity"]
["C0432240","Stuve-Wiedemann dysplasia",379,2,"1.0"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555","disease of anatomical entity"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849","disease of anatomical entity"]
["C0699741","Benign congenital myopathy",373,2,"0.9972372709231963","disease of anatomical entity"]
["C3668940","Dmd-Associated Dilated Cardiomyopathy",373,2,"0.9972120608689411","disease of anatomical entity"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836","disease of anatomical entity"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245","genetic disease"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865","disease of metabolism"]
["C2827503","HFE-Associated Hereditary Hemochromatosis",370,2,"0.9134244775840457"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213"]
["C0271991","delta^0^ Thalassemia",369,2,"0.8883038961902984"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0"]
["C1849158","Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein",362,2,"1.0"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114","disease of metabolism"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467","genetic disease"]
["C0342326","Tumor-induced hypoglycemia",359,2,"1.0"]
["C4225307","GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES",359,2,"1.0"]
["C0014742","Erythema Multiforme",358,2,"0.9947243149110956","disease of anatomical entity"]
["C3151085","MASP2 Deficiency",358,2,"0.9948802121872607"]
["C1847835","VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)",357,2,"0.9199535412388848"]
["C4479278","AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS",357,2,"0.9176241837195498"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581"]
["C4317320","Factor V deficiency",356,2,"0.4485430979187163","disease of anatomical entity"]
["C0393929","Familial infantile myasthenia",352,2,"1.0","disease of anatomical entity"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0","disease of anatomical entity"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209"]
["C1833693","Otodental Dysplasia",341,2,"1.0"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0"]
["C1840347","HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)",340,2,"1.0","disease of metabolism"]
["C3809243","HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",340,2,"1.0","disease of metabolism"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","disease of metabolism"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","syndrome"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","disease of anatomical entity"]
["C0271844","Parathyroid hyperplasia",338,2,"0.5993809292643847","disease of anatomical entity"]
["C1840394","Parathyroid Adenomatosis, Familial Cystic",336,2,"1.0"]
["C1840403","Parathyroid Adenoma, Familial",336,2,"1.0","disease of anatomical entity"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0","disease of anatomical entity"]
["C4479229","HYPERPARATHYROIDISM 4",332,2,"1.0"]
["C3715128","HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",329,2,"0.9244236065313127","disease of metabolism"]
["C4048195","Autosomal dominant hypocalcemia",329,2,"0.9376584870455091","disease of metabolism"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896"]
["C0595948","Atypical absence seizure",328,2,"0.7938951754925483"]
["C2677078","Generalized Epilepsy With Febrile Seizures Plus, Type 6",321,2,"0.1388245210853384"]
["C2677079","Inflammatory Bowel Disease 19",321,2,"0.6789069553318091","disease of anatomical entity"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725","disease of anatomical entity"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043","disease of anatomical entity"]
["C0391958","Familial Epilepsies",317,2,"1.0"]
["C1864987","Migraine, Familial Hemiplegic, 3",317,2,"1.0","disease of anatomical entity"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418"]
["C3150274","COMPLEMENT COMPONENT C1r/C1s DEFICIENCY",315,2,"0.8381970974099762"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0","genetic disease"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0","genetic disease"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","genetic disease"]
["C0037769","West Syndrome",307,2,"0.470177921914013","disease of anatomical entity"]
["C3887898","Infantile Spasm",307,2,"0.5792649730881743"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","disease of metabolism"]
["C0342546","Premature adrenarche",304,2,"1.0"]
["C4020713","Penile melanosis",304,2,"1.0"]
["C0003892","Neurogenic arthropathy",302,2,"0.4274246459299818","disease of anatomical entity"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163"]
["C3809882","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",298,2,"0.7749559668602081","disease of anatomical entity"]
["C3809899","EPISODIC PAIN SYNDROME, FAMILIAL, 3",298,2,"0.8911583170629884"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035","disease of anatomical entity"]
["C3151229","FEBRILE SEIZURES, FAMILIAL, 3B",296,2,"0.9715609139633676","disease of anatomical entity"]
["C0014805","Primary Erythermalgia",294,2,"1.0","disease of anatomical entity"]
["C1833661","PAROXYSMAL EXTREME PAIN DISORDER",294,2,"1.0"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335","disease of anatomical entity"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996","disease of anatomical entity"]
["C0008733","Chylothorax",289,2,"0.7325683322546428"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536","genetic disease"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996","genetic disease"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","genetic disease"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","disease of anatomical entity"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624","disease of anatomical entity"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","genetic disease"]
["C2931803","Deletion 11p13",279,2,"0.9115534156796891"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469","disease of anatomical entity"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0"]
["C3150773","CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME",273,2,"1.0"]
["C0751486","Reye-Like Syndrome",266,2,"1.0","syndrome"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0"]
["C0036651","Senile lentigo",263,2,"0.9635667491119488"]
["C1328931","Multiple lentigines",263,2,"0.9568552516542852"]
["C1959635","Parvovirus B19 (disease)",258,2,"0.9999999999999987"]
["C2062441","Influenza A",258,2,"0.9999999999999987"]
["C0034089","Pulmonary Valve Stenosis",257,2,"0.6379953895721809","disease of anatomical entity"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583"]
["C2674723","RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER",254,2,"0.21217349147789383","disease of anatomical entity"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387","syndrome"]
["C2931732","Familial Paget\\'s disease of bone",251,2,"0.9105113961730806"]
["C4085251","PAGET DISEASE OF BONE 2, EARLY-ONSET",251,2,"0.9453216217988855","disease of anatomical entity"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694","disease of metabolism"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549","disease of metabolism"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619","disease of anatomical entity"]
["C1867610","Macrocephaly mesodermal hamartoma spectrum",244,2,"1.0"]
["C3554519","COWDEN SYNDROME 6",244,2,"1.0","genetic disease"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","disease of anatomical entity"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0","physical disorder"]
["C4014479","CULLER-JONES SYNDROME",239,2,"1.0"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","disease of anatomical entity"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","disease of anatomical entity"]
["C1112530","Leukoplakia of oral mucosa, incl tongue",235,2,"0.37552475762219273","disease of anatomical entity"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263","disease of cellular proliferation"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263","disease of anatomical entity"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592","disease of anatomical entity"]
["C0264490","Acute respiratory failure",234,2,"0.26144710725229064","disease of anatomical entity"]
["C0376532","Epilepsy, Rolandic",231,2,"0.9863768331648847","disease of anatomical entity"]
["C2363129","Benign Rolandic Epilepsy",231,2,"0.9835612799265155","disease of anatomical entity"]
["C1264031","Alloimmune thrombocytopenia",229,2,"1.0"]
["C3280114","Glycoprotein IA Deficiency",229,2,"1.0","disease of anatomical entity"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567","disease of anatomical entity"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713","disease of anatomical entity"]
["C3463916","Complement Factor I (C3 inactivator) deficiency",227,2,"0.9993580970880713","disease of anatomical entity"]
["C3809523","MACULAR DEGENERATION, AGE-RELATED, 13",227,2,"0.999362695947115","disease of anatomical entity"]
["C1449646","Primary Peritonitis",225,2,"1.0"]
["C1449647","Secondary Peritonitis",225,2,"1.0"]
["C1404521","Limb-girdle myopathy",224,2,"1.0"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614","disease of mental health"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568","disease of mental health"]
["C0796206","Atkin syndrome",218,2,"1.0","disease of mental health"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0","disease of mental health"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672","disease of anatomical entity"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521","disease of anatomical entity"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975","disease of cellular proliferation"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975","disease of anatomical entity"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741","disease of anatomical entity"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854","genetic disease"]
["C0042875","Vitamin E Deficiency",202,2,"0.7260317392737631"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042","disease of metabolism"]
["C0015544","Failure to Thrive",200,2,"0.8155779028014215"]
["C4539857","CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME",200,2,"0.8677287779857149"]
["C0746882","Chronic neutropenia",199,2,"0.4265838371316968"]
["C2931027","Neutropenia, severe chronic",199,2,"0.5920100690213788"]
["C0272199","Familial Hemophagocytic Lymphocytosis",197,2,"0.8777966363934008","disease of anatomical entity"]
["C0877564","Lymphohistiocytosis",197,2,"0.7536397048762788"]
["C0155686","Acute myocarditis",196,2,"0.999197085045493","disease of anatomical entity"]
["C1863727","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",196,2,"0.999197507327757","disease of anatomical entity"]
["C0393934","Slow channel syndrome",193,2,"1.0"]
["C0751950","Neuromuscular Junction Diseases",193,2,"1.0","disease of anatomical entity"]
["C0236811","Chronobiology Disorders",191,2,"0.9982707714617883"]
["C0813142","Circadian Rhythm Disorders",191,2,"0.9982724805137935"]
["C0036330","Schistosomiasis mansoni",179,2,"0.988763024335123","disease by infectious agent"]
["C0242497","Intestinal schistosomiasis",179,2,"0.9886896464834624","disease by infectious agent"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249","disease of anatomical entity"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325","disease of anatomical entity"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069","disease of anatomical entity"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088","disease of anatomical entity"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","disease of anatomical entity"]
["C4023400","Generalized hypopigmentation of hair",170,2,"0.8741752036602615"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246","disease of anatomical entity"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547","disease of anatomical entity"]
["C0024799","Marginal ulcer",167,2,"0.3288398176990978","disease of anatomical entity"]
["C0030920","Peptic Ulcer",167,2,"0.5447430931358818","disease of anatomical entity"]
["C0023364","Leptospirosis",165,2,"1.0","disease by infectious agent"]
["C0023364","Leptospirosis",165,2,"1.0","disease of anatomical entity"]
["C0043102","Weil Disease",165,2,"1.0","disease by infectious agent"]
["C0043102","Weil Disease",165,2,"1.0","disease of anatomical entity"]
["C0014476","Eperythrozoonosis",162,2,"0.9763688333050579"]
["C0026936","Mycoplasma Infections",162,2,"0.9765910390406776"]
["C0009326","Collagen Diseases",161,2,"0.2197946581904022","disease of anatomical entity"]
["C0029883","Otitis Media with Effusion",161,2,"0.2197946581904022","disease of anatomical entity"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087","disease of cellular proliferation"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087","disease of anatomical entity"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723","disease of cellular proliferation"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723","disease of anatomical entity"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","disease of metabolism"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","disease of anatomical entity"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366"]
["C3854603","FNAITP",153,2,"0.9015382542785494"]
["C0343206","Hypocomplementemic urticarial vasculitis",150,2,"0.7251035333722083"]
["C4023113","Small vessel vasculitis",150,2,"0.4802384476127429"]
["C1384600","Systemic onset juvenile chronic arthritis",148,2,"0.37732833560863793"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605","disease of anatomical entity"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482","disease by infectious agent"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482","disease of anatomical entity"]
["C0877445","Candidemia",147,2,"0.6222172173608798"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804","genetic disease"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452","genetic disease"]
["C0006105","Brain Abscess",144,2,"0.993164548373027","disease of anatomical entity"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656"]
["C0238157","Benign hematuria",139,2,"1.0"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618"]
["C0264657","Renal sclerosis with hypertension",136,2,"0.36556103101872844"]
["C0238305","Sickle cell nephropathy",135,2,"1.0"]
["C2749515","Collapsing glomerulopathy",135,2,"1.0"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","disease of anatomical entity"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117","genetic disease"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573"]
["C0271737","Addison\\'s disease due to autoimmunity",127,2,"0.7301362487287018","disease of anatomical entity"]
["C2103602","Autoimmune Primary Adrenal Insufficiency",127,2,"0.7475607575035587"]
["C0409952","Idiopathic osteoarthritis",125,2,"0.4268252862938259"]
["C1384584","Generalized osteoarthritis",125,2,"0.35786274943789437"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","disease of mental health"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","disease of anatomical entity"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889","disease of mental health"]
["C1456246","Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site",122,2,"0.4649887553430743"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831","disease of anatomical entity"]
["C1970470","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)",117,2,"1.0","disease of anatomical entity"]
["C3711368","Surfactant Dysfunction",117,2,"1.0"]
["C1833487","Varicella, Severe Recurrent",115,2,"1.0"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406","disease of anatomical entity"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458","disease of anatomical entity"]
["C0038160","Staphylococcal Infections",109,2,"0.9748344539664633"]
["C1318973","Staphylococcus aureus infection",109,2,"0.9753952292699479"]
["C0014848","Esophageal Achalasia",107,2,"0.8953453362940573","disease of anatomical entity"]
["C0859976","Idiopathic achalasia of esophagus",107,2,"0.8959759896830298"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794","disease of anatomical entity"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469","disease of anatomical entity"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777","disease of anatomical entity"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0","disease of anatomical entity"]
["C0017677","Glossitis, Benign Migratory",101,2,"1.0","disease of anatomical entity"]
["C0342879","Primary hypercholesterolemia",92,2,"0.5072362079212815"]
["C0342880","Polygenic hypercholesterolemia",92,2,"0.47131209749419495"]
["C0221014","Reactive systemic amyloidosis",88,2,"0.8757721251653822"]
["C3536715","AA amyloidosis",88,2,"0.8195465827971186"]
["C0342611","Familial non-neuropathic amyloidosis",87,2,"0.9999999999999984","disease of anatomical entity"]
["C1719313","Hereditary amyloid nephropathy",87,2,"0.9999999999999984","disease of anatomical entity"]
["C1318520","Necrotizing vasculitis",81,2,"0.3452722686939388"]
["C4050407","Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis",81,2,"0.5754267412787729"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788","disease of anatomical entity"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369","disease by infectious agent"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672","disease by infectious agent"]
["C0276447","Rhinovirus infection",75,2,"0.5989059067265652"]
["C0860564","Retinoic acid syndrome",75,2,"0.10735026511308464"]
["C0006274","Bronchiolitis, Viral",74,2,"1.0"]
["C0343378","Helicobacter-associated gastritis",74,2,"1.0"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431","disease of anatomical entity"]
["C0340076","Asthmatic pulmonary eosinophilia",67,2,"0.9875146502406423","disease of anatomical entity"]
["C0008513","Chorioretinitis",58,2,"1.0","disease of anatomical entity"]
["C0271429","Acute otitis media",58,2,"1.0","disease of anatomical entity"]
["C0740451","Granulomatous disorder",56,2,"0.7227409402498903","disease of anatomical entity"]
["C1334228","Intestinal Graft Versus Host Disease",56,2,"0.582080753975764"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717","disease of cellular proliferation"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717","disease of anatomical entity"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303","disease of cellular proliferation"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303","disease of anatomical entity"]
["C1449626","CADASILM",42,2,"0.9999999999999983","disease of anatomical entity"]
["C4024918","Recurrent subcortical infarcts",42,2,"0.9999999999999983"]
["C0598428","genetic hypertension",39,2,"0.10835372021513352"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722","disease of anatomical entity"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335","disease of anatomical entity"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591","disease of anatomical entity"]
["C0268790","Renal vascular disorder",31,2,"0.9330123872994867","disease of anatomical entity"]
["C3810332","AURICULOCONDYLAR SYNDROME 3",31,2,"0.9296815872533594"]
["C0031039","Pericardial effusion",27,2,"0.6271121230469775","disease of anatomical entity"]
["C0242426","Chylopericardium",27,2,"0.5052535960135892","disease of anatomical entity"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984","disease of anatomical entity"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984","disease of anatomical entity"]
["C0018814","Heart Rupture, Post-Infarction",24,2,"0.9859785298241688"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683","disease of anatomical entity"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0"]
["C0852711","Sickle Cell Dactylitis",21,2,"1.0"]
["C0311370","Lupus anticoagulant disorder",17,2,"0.39169644528297426","disease of anatomical entity"]
["C2584409","Prothrombin G20210A mutation",17,2,"0.2175313471973938"]
["C0039103","Synovitis",13,2,"0.7609897081569665","disease of anatomical entity"]
["C0410574","Synovial Hypertrophy",13,2,"0.7390675909001504","disease of anatomical entity"]
["C2675767","EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",12,2,"1.0","disease of anatomical entity"]
["C3279941","STICKLER SYNDROME, TYPE IV",12,2,"1.0"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193"]
["C4021538","Mild neurosensory hearing impairment",10,2,"0.9210085775509319"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719","genetic disease"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268","disease of anatomical entity"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135","disease of anatomical entity"]
["C0687751","Acanthocytosis",1,2,"0.44297794826270537","disease of metabolism"]

{"sheet":"MeSH","index":2,"n_rows":13730,"n_cols":6,"rows_kept":13730,"cut":false,"hidden":false,"merged":[]}
["disease_id","disease_name","cluster","cluster_items","silhouette_sample","MeSH class name"]
["C0001231","ACTH Syndrome, Ectopic",155,29,"0.8917446133803774","   Neoplasms"]
["C0001614","Adrenal Cortex Diseases",155,29,"0.8930542471690757","   Endocrine System Diseases"]
["C0001622","Adrenal Gland Hyperfunction",155,29,"0.6835686301495986","   Endocrine System Diseases"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","   Musculoskeletal Diseases"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","   Nutritional and Metabolic Diseases"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","   Stomatognathic Diseases"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","   Nervous System Diseases"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","   Pathological Conditions, Signs and Symptoms"]
["C0020488","Hypernatremia",155,29,"0.5913723966697572","   Nutritional and Metabolic Diseases"]
["C0154695","Diplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0154697","Cerebral Palsy, Quadriplegic, Infantile",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0154698","Monoplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0242217","Calcium Pyrophosphate Dihydrate Deposition",155,29,"0.8930542471690757","   Musculoskeletal Diseases"]
["C0270742","Athetoid cerebral palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0270807","Monoplegic Cerebral Palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0271738","Hypocortisolism secondary to another disorder",155,29,"0.8930542471690757"]
["C0338596","Spastic cerebral palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0340375","Subaortic stenosis",155,29,"0.42098968313868534","   Cardiovascular Diseases"]
["C0342442","ACTH-dependent Cushing\\'s syndrome",155,29,"0.8930542471690757"]
["C0342494","Adrenocortical hyperplasia",155,29,"0.49969250988094815"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757","   Neoplasms"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757","   Eye Diseases"]
["C0394003","Cerebral Palsy, Dystonic-Rigid",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0394007","Cerebral Palsy, Atonic",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0553767","Congenital Cerebral Palsy",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0574960","Sacroiliitis",155,29,"0.8776843642592694","   Musculoskeletal Diseases"]
["C0751024","Cerebral Palsy, Mixed",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C0751025","Cerebral Palsy, Rolandic Type",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757","   Neoplasms"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757","   Nervous System Diseases"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757","   Eye Diseases"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644","   Neoplasms"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644","   Nervous System Diseases"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644","   Eye Diseases"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757","   Nutritional and Metabolic Diseases"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757","   Endocrine System Diseases"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757","   Pathological Conditions, Signs and Symptoms"]
["C2936444","Pyogenic Sacroiliitis",155,29,"0.8930542471690757","   Musculoskeletal Diseases"]
["C2936445","Septic Sacroiliitis",155,29,"0.8930542471690757","   Musculoskeletal Diseases"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458","   Nervous System Diseases"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458","   Wounds and Injuries"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942","   Nervous System Diseases"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942","   Nutritional and Metabolic Diseases"]
["C0158328","Trigger Finger Disorder",701,24,"0.923439776663983","   Musculoskeletal Diseases"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181","   Nervous System Diseases"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181","   Nutritional and Metabolic Diseases"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983","   Nervous System Diseases"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C0259749","Autonomic neuropathy",701,24,"0.8613429782763394"]
["C0268380","Systemic amyloidosis",701,24,"0.6363915466641327"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983","   Nervous System Diseases"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457","   Nervous System Diseases"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457","   Nutritional and Metabolic Diseases"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983","   Nervous System Diseases"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983","   Nervous System Diseases"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C0339562","Amyloid of vitreous",701,24,"0.923439776663983"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871","   Nervous System Diseases"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871","   Nutritional and Metabolic Diseases"]
["C0342613","Danish type familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0342623","Senile systemic amyloidosis",701,24,"0.923439776663983"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983","   Nervous System Diseases"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C1719315","Hereditary cardiac amyloidosis",701,24,"0.923439776663983"]
["C2718001","Protein Misfolding Disorders",701,24,"0.923439776663983","   Nutritional and Metabolic Diseases"]
["C2750824","Dystransthyretinemic Euthyroidal Hyperthyroxinemia",701,24,"0.923439776663983","   Endocrine System Diseases"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642","   Nervous System Diseases"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642","   Nutritional and Metabolic Diseases"]
["C3151470","AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3151471","AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3468338","CARPAL TUNNEL SYNDROME, FAMILIAL",701,24,"0.923439776663983"]
["C4275067","Transthyretin related familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695","   Cardiovascular Diseases"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695","   Pathological Conditions, Signs and Symptoms"]
["C0264913","Left posterior fascicular block",761,20,"0.6561976047947479"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731","   Cardiovascular Diseases"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731","   Pathological Conditions, Signs and Symptoms"]
["C0344431","Ventricular tachycardia, monomorphic",761,20,"0.6561976047947479"]
["C0685108","Lenegre\\'s disease",761,20,"0.6561976047947479"]
["C1141890","Congenital long QT syndrome",761,20,"-0.4814313865646901"]
["C1832680","CARDIOMYOPATHY, DILATED, 1E",761,20,"0.6561976047947479","   Cardiovascular Diseases"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479","   Cardiovascular Diseases"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479","   Pathological Conditions, Signs and Symptoms"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268","   Cardiovascular Diseases"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268","   Pathological Conditions, Signs and Symptoms"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479","   Cardiovascular Diseases"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479","   Pathological Conditions, Signs and Symptoms"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479","   Cardiovascular Diseases"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479","   Pathological Conditions, Signs and Symptoms"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858","   Cardiovascular Diseases"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858","   Pathological Conditions, Signs and Symptoms"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611","   Cardiovascular Diseases"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712","   Cardiovascular Diseases"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712","   Pathological Conditions, Signs and Symptoms"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479","   Cardiovascular Diseases"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479","   Pathological Conditions, Signs and Symptoms"]
["C3151464","ATRIAL FIBRILLATION, FAMILIAL, 10",761,20,"0.6561976047947479"]
["C3276240","LONG QT SYNDROME 2/3, DIGENIC",761,20,"0.5148869923873103"]
["C3276241","LONG QT SYNDROME 3/6, DIGENIC Disorder",761,20,"0.42203767574616585"]
["C3698186","Cardiac channelopathy",761,20,"0.6561976047947479"]
["C4476543","Complete heart block with broad QRS complexes",761,20,"0.6561976047947479"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184","   Nervous System Diseases"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184","   Eye Diseases"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306","   Nervous System Diseases"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306","   Eye Diseases"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394","   Nervous System Diseases"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394","   Eye Diseases"]
["C1854260","LEBER CONGENITAL AMAUROSIS 6 (disorder)",571,20,"0.9740371723062394","   Eye Diseases"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394","   Eye Diseases"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255","   Stomatognathic Diseases"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255","   Skin and Connective Tissue Diseases"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167","   Nutritional and Metabolic Diseases"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","   Nervous System Diseases"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","   Hemic and Lymphatic Diseases"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","   Nutritional and Metabolic Diseases"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255","   Nervous System Diseases"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255","   Cardiovascular Diseases"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255","   Nervous System Diseases"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255","   Immune System Diseases"]
["C0595905","cortex bone disorders",62,19,"0.947551417529255"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255","   Nervous System Diseases"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255","   Cardiovascular Diseases"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255","   Nervous System Diseases"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255","   Cardiovascular Diseases"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338","   Nervous System Diseases"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338","   Immune System Diseases"]
["C1862556","Apolipoprotein E, Deficiency or Defect of",62,19,"0.947551417529255"]
["C1862557","Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d",62,19,"0.947551417529255"]
["C1862558","Familial Hyperbeta- and Prebetalipoproteinemia",62,19,"0.947551417529255"]
["C1862560","Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis",62,19,"0.947551417529255"]
["C1862561","Broad-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1862562","Floating-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013","   Nervous System Diseases"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013","   Mental Disorders"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693","   Male Urogenital Diseases"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693","   Female Urogenital Diseases and Pregnancy Complications"]
["C4237227","Obstructive sleep apnea hypopnea",62,19,"0.947551417529255"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385","   Nervous System Diseases"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138","   Nervous System Diseases"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3275443","MENTAL RETARDATION, X-LINKED 90 (disorder)",217,18,"0.6438841517661003"]
["C3275444","MENTAL RETARDATION, X-LINKED 88 (disorder)",217,18,"0.9407568144808138"]
["C3887939","MENTAL RETARDATION, X-LINKED 41",217,18,"0.600161968928229"]
["C0001889","Akinetic Mutism",130,18,"0.880517536873952","   Nervous System Diseases"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852","   Nervous System Diseases"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022802","Kuru",130,18,"0.880517536873952","   Nervous System Diseases"]
["C0162534","Prion Diseases",130,18,"0.5639481907382818","   Nervous System Diseases"]
["C0206042","Fatal Familial Insomnia",130,18,"0.880517536873952","   Nervous System Diseases"]
["C0751645","Human Transmissible Spongiform Encephalopathies, Inherited",130,18,"0.880517536873952","   Nervous System Diseases"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952","   Nervous System Diseases"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952","   Animal Diseases"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952","   Nervous System Diseases"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952","   Mental Disorders"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489","   Nervous System Diseases"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489","   Mental Disorders"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952","   Nervous System Diseases"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952","   Mental Disorders"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952","   Nervous System Diseases"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952","   Eye Diseases"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952","   Pathological Conditions, Signs and Symptoms"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952","   Mental Disorders"]
["C2349757","Iatrogenic Jakob-Creutzfeldt disease",130,18,"0.548250420431056"]
["C2900450","Other Creutzfeldt-Jakob disease",130,18,"0.7910919249868396"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952","   Nervous System Diseases"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952","   Mental Disorders"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402","   Nervous System Diseases"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402","   Animal Diseases"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402","   Mental Disorders"]
["C3805618","CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",130,18,"0.880517536873952"]
["C4275003","Familial Creutzfeldt-Jakob",130,18,"0.880517536873952"]
["C4303482","Familial Alzheimer-like prion disease",130,18,"0.880517536873952"]
["C0027145","Myxedema",562,17,"0.8680601743049992","   Skin and Connective Tissue Diseases"]
["C0027145","Myxedema",562,17,"0.8680601743049992","   Endocrine System Diseases"]
["C0040149","Subacute thyroiditis",562,17,"0.8680601743049992","   Endocrine System Diseases"]
["C0040156","Thyrotoxicosis",562,17,"0.2650637609359388","   Endocrine System Diseases"]
["C0271790","Subclinical hypothyroidism",562,17,"0.8597538955951437"]
["C0271791","Severe hypothyroidism",562,17,"0.6205795358777723"]
["C0271814","Silent thyroiditis",562,17,"0.8680601743049992"]
["C0302840","Toxic thyroid adenoma",562,17,"0.8680601743049992"]
["C0342114","Diffuse goiter",562,17,"0.8680601743049992"]
["C0342122","Toxic diffuse goiter",562,17,"0.8680601743049992"]
["C0700502","Acquired hypothyroidism",562,17,"0.7958214371441152"]
["C0869147","Neonatal hyperthyroidism",562,17,"0.8680601743049992"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876","   Endocrine System Diseases"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876","   Immune System Diseases"]
["C1262098","Congenital hyperthyroidism",562,17,"0.8680601743049992"]
["C1836706","Hyperthyroidism, Nonautoimmune",562,17,"0.8680601743049992","   Endocrine System Diseases"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992","   Female Urogenital Diseases and Pregnancy Complications"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992","   Endocrine System Diseases"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992","   Musculoskeletal Diseases"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992","   Endocrine System Diseases"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329","   Musculoskeletal Diseases"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329","   Endocrine System Diseases"]
["C0014547","Epilepsies, Partial",1039,16,"0.39604734328491253","   Nervous System Diseases"]
["C0086240","Epilepsy, Simple Partial",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0234974","Simple Partial Seizures",1039,16,"0.7989936344921901","   Nervous System Diseases"]
["C0270820","Gelastic Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0270847","Benign Focal Epilepsy, Childhood",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0393675","Childhood Benign Occipital Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0393679","Amygdalo-Hippocampal Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0393681","Rhinencephalic Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0393691","Occipital Lobe Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0751112","Subclinical Seizure",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0751113","Uncinate Seizures",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C0751115","Digestive Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C1851549","Benign Occipital Epilepsy",1039,16,"0.9183429424175625","   Nervous System Diseases"]
["C3494976","Migrating partial seizures in infancy",1039,16,"0.7057371472318906"]
["C3554195","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14",1039,16,"0.7989936344921899"]
["C3554306","EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",1039,16,"0.8997102131297593"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015","   Nervous System Diseases"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015","   Pathological Conditions, Signs and Symptoms"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953","   Nervous System Diseases"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953","   Pathological Conditions, Signs and Symptoms"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856","   Nervous System Diseases"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856","   Pathological Conditions, Signs and Symptoms"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142","   Nervous System Diseases"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142","   Pathological Conditions, Signs and Symptoms"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889","   Nervous System Diseases"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889","   Pathological Conditions, Signs and Symptoms"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818","   Nervous System Diseases"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818","   Pathological Conditions, Signs and Symptoms"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201","   Nervous System Diseases"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201","   Pathological Conditions, Signs and Symptoms"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038","   Nervous System Diseases"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038","   Pathological Conditions, Signs and Symptoms"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658","   Nervous System Diseases"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658","   Pathological Conditions, Signs and Symptoms"]
["C0019021","Hemoglobin C Disease",363,15,"1.0","   Hemic and Lymphatic Diseases"]
["C0019021","Hemoglobin C Disease",363,15,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221019","Sickle cell-beta-thalassemia",363,15,"1.0"]
["C0271986","delta beta^0^ Thalassemia",363,15,"1.0"]
["C0271987","^A^gamma delta beta^0^ thalassemia",363,15,"1.0"]
["C0272080","Hemoglobin D disease",363,15,"1.0"]
["C0272084","Hemoglobin SD disease",363,15,"1.0"]
["C0272085","Sickle cell-hemoglobin E disease",363,15,"1.0"]
["C0472769","Hemoglobin Lepore trait",363,15,"1.0"]
["C0472777","Hemoglobin E/beta thalassemia disease",363,15,"1.0"]
["C0599528","beta thalassemia major anemia",363,15,"1.0"]
["C0857812","Sickle cell-beta^+^-thalassemia",363,15,"1.0"]
["C0869532","Beta thalassemia minor",363,15,"1.0"]
["C1264000","Sickle cell-Hemoglobin O Arab disease",363,15,"1.0"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0","   Hemic and Lymphatic Diseases"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3161373","Dominant thalassemia",363,15,"1.0"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467","   Nervous System Diseases"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467","   Eye Diseases"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191","   Nervous System Diseases"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191","   Eye Diseases"]
["C0154971","Presenile cataract",281,15,"0.6721328702701199"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","   Eye Diseases"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685"]
["C0521573","Coloboma of eyelid",281,15,"0.04564369362472322"]
["C0549307","Morning glory syndrome",281,15,"0.7499787358115191"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191","   Nervous System Diseases"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191","   Eye Diseases"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191","   Nervous System Diseases"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191","   Eye Diseases"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191","   Nervous System Diseases"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191","   Eye Diseases"]
["C1835698","Keratitis, hereditary",281,15,"0.7499787358115191","   Eye Diseases"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191","   Nervous System Diseases"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191","   Eye Diseases"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3554721","Morning glory anomaly",281,15,"0.6160530614576153"]
["C3805604","FOVEAL HYPOPLASIA 1",281,15,"0.7499787358115191"]
["C4310809","ANTERIOR SEGMENT DYSGENESIS 5",281,15,"0.7499787358115191"]
["C0235820","Neonatal encephalopathy",1324,14,"0.9477127756007206"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529","   Nervous System Diseases"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529","   Pathological Conditions, Signs and Symptoms"]
["C0796222","Mental Retardation, X-Linked 16",1324,14,"0.9477127756007206"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206","   Pathological Conditions, Signs and Symptoms"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206","   Behavior and Behavior Mechanisms"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848211","Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism",1324,14,"0.9477127756007206"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968552","Mental Retardation, X-Linked, With Spasticity",1324,14,"0.9477127756007206"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206","   Nervous System Diseases"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393593","Dystonia Disorders",951,14,"0.6982519975028805","   Nervous System Diseases"]
["C0393598","Idiopathic familial dystonia",951,14,"0.7679777162686043","   Nervous System Diseases"]
["C0743332","Focal Dystonia",951,14,"0.9201450282110738","   Nervous System Diseases"]
["C0752197","Adult-Onset Dystonias",951,14,"0.9589805064494471","   Nervous System Diseases"]
["C0752198","Adult-Onset Idiopathic Focal Dystonias",951,14,"0.9592504244316343","   Nervous System Diseases"]
["C0752199","Adult-Onset Idiopathic Torsion Dystonias",951,14,"0.9592504244316343","   Nervous System Diseases"]
["C0752200","Autosomal Dominant Familial Dystonia",951,14,"0.9592504244316343","   Nervous System Diseases"]
["C0752201","Autosomal Recessive Familial Dystonia",951,14,"0.9592504244316343","   Nervous System Diseases"]
["C0752202","Childhood Onset Dystonias",951,14,"0.9583412898482454","   Nervous System Diseases"]
["C0752203","Dystonia, Primary",951,14,"0.9427935104653784","   Nervous System Diseases"]
["C0752205","Dystonia, Secondary",951,14,"0.9594463549465768","   Nervous System Diseases"]
["C0752206","Dystonias, Sporadic",951,14,"0.9591923466269677","   Nervous System Diseases"]
["C0752207","Familial Dystonia",951,14,"0.9117739505549026","   Nervous System Diseases"]
["C4316810","Writer\\'s Cramp",951,14,"0.9592504244316343","   Nervous System Diseases"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437","   Cardiovascular Diseases"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437","   Pathological Conditions, Signs and Symptoms"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959","   Musculoskeletal Diseases"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959","   Skin and Connective Tissue Diseases"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959","   Nutritional and Metabolic Diseases"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437","   Male Urogenital Diseases"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437","   Female Urogenital Diseases and Pregnancy Complications"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437","   Cardiovascular Diseases"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437","   Endocrine System Diseases"]
["C0796083","Najjar syndrome",183,14,"0.9732481556666437","   Cardiovascular Diseases"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336","   Musculoskeletal Diseases"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336","   Nervous System Diseases"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437","   Nervous System Diseases"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437","   Musculoskeletal Diseases"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437","   Cardiovascular Diseases"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437","   Musculoskeletal Diseases"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437","   Nervous System Diseases"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437","   Nutritional and Metabolic Diseases"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437","   Musculoskeletal Diseases"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437","   Nervous System Diseases"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3266164","Dropped head syndrome",183,14,"0.9732481556666437"]
["C4021573","Patchy hypo- and hyperpigmentation",183,14,"0.9732481556666437"]
["C4021684","Sclerosis of hand bone",183,14,"0.9732481556666437"]
["C4275075","Atypical Werner syndrome",183,14,"0.9694821351266303"]
["C0033377","Ptosis",1196,13,"0.9182382953840843","   Pathological Conditions, Signs and Symptoms"]
["C0154208","Disorder of endocrine ovary",1196,13,"0.7066692397622093"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","   Eye Diseases"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","   Male Urogenital Diseases"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","   Female Urogenital Diseases and Pregnancy Complications"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106","   Skin and Connective Tissue Diseases"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106","   Female Urogenital Diseases and Pregnancy Complications"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106","   Endocrine System Diseases"]
["C1862260","BPES, TYPE I",1196,13,"0.9829110049058106"]
["C1862261","BPES, TYPE II",1196,13,"0.9829110049058106"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106","   Nervous System Diseases"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106","   Eye Diseases"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106","   Nervous System Diseases"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106","   Eye Diseases"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106","   Nervous System Diseases"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106","   Eye Diseases"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106","   Nervous System Diseases"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106","   Eye Diseases"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106","   Eye Diseases"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106","   Skin and Connective Tissue Diseases"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106","   Eye Diseases"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106","   Skin and Connective Tissue Diseases"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","   Eye Diseases"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","   Male Urogenital Diseases"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","   Female Urogenital Diseases and Pregnancy Complications"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106","   Skin and Connective Tissue Diseases"]
["C0008526","Choroiditis",507,13,"0.8004782025957944","   Eye Diseases"]
["C0020875","Ileal Diseases",507,13,"0.7697948998824663","   Digestive System Diseases"]
["C0022081","Iritis",507,13,"0.7697948998824663","   Eye Diseases"]
["C0272192","Familial eosinophilia",507,13,"0.8004782025957944","   Hemic and Lymphatic Diseases"]
["C0275551","Primary bacterial peritonitis",507,13,"0.49002046160008855"]
["C0341268","Disorder of small intestine",507,13,"0.8004782025957944"]
["C0376620","Pouchitis",507,13,"0.5543677376628083","   Digestive System Diseases"]
["C1836122","SARCOIDOSIS, EARLY-ONSET",507,13,"0.8004782025957944","   Hemic and Lymphatic Diseases"]
["C1853438","INFLAMMATORY BOWEL DISEASE 5",507,13,"0.44261517234695835","   Digestive System Diseases"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218","   Musculoskeletal Diseases"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218","   Eye Diseases"]
["C2931133","Pediatric Crohn\\'s disease",507,13,"0.4326116375734043","   Digestive System Diseases"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944"]
["C4310620","YAO SYNDROME",507,13,"0.8004782025957944"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895","   Eye Diseases"]
["C0151814","Coronary Occlusion",22,13,"0.7102161850041155","   Cardiovascular Diseases"]
["C0151970","Ulcer of esophagus",22,13,"0.8079605355986446"]
["C0154830","Proliferative diabetic retinopathy",22,13,"0.4046215313223032"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684","   Eye Diseases"]
["C0271084","Exudative age-related macular degeneration",22,13,"0.7292848099415582"]
["C0271178","Irvine-Gass Syndrome",22,13,"0.8079605355986446","   Eye Diseases"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086","   Eye Diseases"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086","   Pathological Conditions, Signs and Symptoms"]
["C0730285","Diabetic macular edema",22,13,"0.5705128017554774"]
["C0741032","Refractory angina",22,13,"0.8079605355986446"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814","   Cardiovascular Diseases"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814","   Skin and Connective Tissue Diseases"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814","   Endocrine System Diseases"]
["C4068858","Avascular retina",22,13,"0.8079605355986446"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716","   Musculoskeletal Diseases"]
["C0521770","Asteroid hyalosis",6,13,"0.9640554617826333"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152","   Musculoskeletal Diseases"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333","   Musculoskeletal Diseases"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333","   Musculoskeletal Diseases"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333","   Eye Diseases"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333","   Eye Diseases"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Musculoskeletal Diseases"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Otorhinolaryngologic Diseases"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Nervous System Diseases"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Eye Diseases"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333","   Pathological Conditions, Signs and Symptoms"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333","   Musculoskeletal Diseases"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333","   Eye Diseases"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858079","Osteoarthritis with Mild Chondrodysplasia",6,13,"0.9640554617826333"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333","   Musculoskeletal Diseases"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225273","SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",6,13,"0.9640554617826333"]
["C4302548","Dysspondyloenchondromatosis",6,13,"0.9640554617826333"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956","   Nervous System Diseases"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956","   Cardiovascular Diseases"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185","   Male Urogenital Diseases"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185","   Pathological Conditions, Signs and Symptoms"]
["C0221276","Relative erythrocytosis",1349,12,"0.9526266257878601"]
["C0272144","Erythrocytosis due to tissue hypoxemia",1349,12,"0.9526266257878601"]
["C0391869","Polycythemia due to excess erythopoetin production",1349,12,"0.9526266257878601"]
["C0541719","Stress polycythemia",1349,12,"0.9526266257878601"]
["C0865275","Polycythemia due to fall in plasma volume",1349,12,"0.9526266257878601"]
["C0865276","Polycythemia due to high altitude",1349,12,"0.9526266257878601"]
["C1837915","ERYTHROCYTOSIS, FAMILIAL, 2",1349,12,"0.9526266257878601","   Hemic and Lymphatic Diseases"]
["C2674004","VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF",1349,12,"0.9526266257878601"]
["C2873823","Polycythemia due to erythropoietin",1349,12,"0.9526266257878601"]
["C2873824","Polycythemia due to stress",1349,12,"0.9526266257878601"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447","   Nutritional and Metabolic Diseases"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447","   Nutritional and Metabolic Diseases"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447","   Nutritional and Metabolic Diseases"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179","   Musculoskeletal Diseases"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179","   Nervous System Diseases"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3149517","LARYNGOSPASM, SEVERE NEONATAL EPISODIC",773,12,"0.9993405043486447"]
["C3280112","MYASTHENIC SYNDROME, CONGENITAL, 16",773,12,"0.9993405043486447"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447","   Musculoskeletal Diseases"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447","   Nervous System Diseases"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447","   Nutritional and Metabolic Diseases"]
["C4023179","Paradoxical myotonia",773,12,"0.9993405043486447"]
["C4275008","Acetazolamide responsive myotonia",773,12,"0.9993405043486447"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465","   Hemic and Lymphatic Diseases"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085411","Angiodysplasia",142,12,"0.8847564051189242","   Cardiovascular Diseases"]
["C0267370","Angiodysplasia of colon",142,12,"0.8847564051189242"]
["C0272355","von Willebrand disease, type IIC",142,12,"0.8847564051189242"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212","   Hemic and Lymphatic Diseases"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242","   Hemic and Lymphatic Diseases"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255","   Hemic and Lymphatic Diseases"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592","   Hemic and Lymphatic Diseases"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697","   Hemic and Lymphatic Diseases"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242","   Hemic and Lymphatic Diseases"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459","   Hemic and Lymphatic Diseases"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3641106","Congenital Bleeding Disorder",142,12,"0.6644661926356533"]
["C0035312","Retinal Drusen",94,12,"0.9997606633874201","   Eye Diseases"]
["C0151565","Hemorrhagic colitis",94,12,"0.9997606633874201"]
["C0235618","Proliferative glomerulonephritis",94,12,"0.9997606633874201"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201","   Male Urogenital Diseases"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201","   Female Urogenital Diseases and Pregnancy Complications"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749","   Eye Diseases"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0730314","Chronic central serous chorioretinopathy",94,12,"0.9997606633874201"]
["C0853888","Hypocomplementaemia",94,12,"0.9997606633874201"]
["C1268937","Diarrhea-negative hemolytic uremic syndrome",94,12,"0.9997606633874201"]
["C1533060","Multifocal choroiditis",94,12,"0.9997606633874201","   Eye Diseases"]
["C1720452","Soft drusen",94,12,"0.9997606633874201"]
["C1853147","MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)",94,12,"0.9997606633874201","   Eye Diseases"]
["C1856143","HEMOLYTIC UREMIC SYNDROME, TYPICAL",94,12,"0.9997606633874201"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634","   Infections"]
["C0032749","Post-kala-azar dermal leishmaniasis",61,12,"0.5850735930557925"]
["C0043407","Yersinia infections",61,12,"0.9361544369942634","   Infections"]
["C0085311","Diffuse cutaneous leishmaniasis",61,12,"0.9361544369942634","   Skin and Connective Tissue Diseases"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667"]
["C0267541","Typhlocolitis",61,12,"0.9361544369942634"]
["C0948780","Rhinosinusitis",61,12,"0.9361544369942634"]
["C1719498","Generalized chronic periodontitis",61,12,"0.9361544369942634"]
["C1720795","Acute Bacterial Prostatitis",61,12,"0.9361544369942634","   Male Urogenital Diseases"]
["C1720796","Asymptomatic Inflammatory Prostatitis",61,12,"0.9361544369942634","   Male Urogenital Diseases"]
["C1720797","Chronic Bacterial Prostatitis",61,12,"0.9361544369942634","   Male Urogenital Diseases"]
["C1723764","Chronic Prostatitis with Chronic Pelvic Pain Syndrome",61,12,"0.9361544369942634","   Male Urogenital Diseases"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463","   Nervous System Diseases"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463","   Cardiovascular Diseases"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109","   Nervous System Diseases"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109","   Cardiovascular Diseases"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809","   Nervous System Diseases"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809","   Cardiovascular Diseases"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109","   Hemic and Lymphatic Diseases"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109","   Immune System Diseases"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978","   Pathological Conditions, Signs and Symptoms"]
["C0270933","Inflammatory neuropathy",690,11,"0.3133082460602747"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082","   Musculoskeletal Diseases"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082","   Nervous System Diseases"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978","   Pathological Conditions, Signs and Symptoms"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978","   Pathological Conditions, Signs and Symptoms"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978","   Otorhinolaryngologic Diseases"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978","   Pathological Conditions, Signs and Symptoms"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978","   Otorhinolaryngologic Diseases"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978","   Pathological Conditions, Signs and Symptoms"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744","   Nervous System Diseases"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744","   Immune System Diseases"]
["C4020904","Myelin tomacula",690,11,"0.9471990763674978"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978","   Nervous System Diseases"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978","   Immune System Diseases"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844","   Nervous System Diseases"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844","   Nutritional and Metabolic Diseases"]
["C0268276","Juvenile GM 2 gangliosidosis",600,11,"0.9980248121615493"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C1848915","Gm2-Gangliosidosis, Adult Chronic Type",600,11,"0.9980248121615493"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C1848917","Tay-Sachs Disease, Pseudo-AB Variant",600,11,"0.9980248121615493"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493","   Nervous System Diseases"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493","   Nutritional and Metabolic Diseases"]
["C2874270","GM2-GANGLIOSIDOSIS, ADULT",600,11,"0.9980248121615493"]
["C0162281","Corneal deposit",528,11,"0.9998287549904908"]
["C0271285","Epithelial basement membrane dystrophy",528,11,"0.9998287549904908"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908","   Eye Diseases"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908","   Nervous System Diseases"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908","   Eye Diseases"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908","   Cardiovascular Diseases"]
["C0544848","Dystrophy, granular",528,11,"0.9998287549904908"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426","   Eye Diseases"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302","   Eye Diseases"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908","   Eye Diseases"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908","   Eye Diseases"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908","   Eye Diseases"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2939149","Amyloid of cornea",528,11,"0.9998287549904908"]
["C0012736","Dissecting aortic aneurysm",450,11,"0.9962367115472965"]
["C0023316","Lens Subluxation",450,11,"0.9962367115472965","   Eye Diseases"]
["C0410787","Hereditary Connective Tissue Disorder",450,11,"0.9962367115472965"]
["C0856747","Aneurysm of ascending aorta",450,11,"0.9962367115472965"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746","   Eye Diseases"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746","   Cardiovascular Diseases"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746","   Skin and Connective Tissue Diseases"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965","   Musculoskeletal Diseases"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965","   Skin and Connective Tissue Diseases"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965","   Musculoskeletal Diseases"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965","   Eye Diseases"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965","   Pathological Conditions, Signs and Symptoms"]
["C3280054","GELEOPHYSIC DYSPLASIA 2",450,11,"0.9962367115472965"]
["C3541518","ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",450,11,"0.9962367115472965"]
["C4021645","Recurrent abdominal hernia",450,11,"0.9962367115472965"]
["C4310796","MARFAN LIPODYSTROPHY SYNDROME",450,11,"0.9962367115472965"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993","   Nervous System Diseases"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0018204","Granulomatous prostatitis",103,11,"0.8735624215362114"]
["C0023351","Tuberculoid leprosy",103,11,"0.8735624215362114","   Infections"]
["C0041466","Typhoid Fever",103,11,"0.8794987616039337","   Infections"]
["C0151450","Secondary SjÃ¶gren\\'s syndrome",103,11,"0.8735624215362114"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114","   Musculoskeletal Diseases"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114","   Cardiovascular Diseases"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114","   Skin and Connective Tissue Diseases"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114","   Immune System Diseases"]
["C0242993","Nephropathia Epidemica",103,11,"0.5736702590571869"]
["C0393847","Multifocal motor neuropathy",103,11,"0.8735624215362114"]
["C0409651","Seropositive rheumatoid arthritis",103,11,"0.22365038115559094"]
["C0577620","Nut Hypersensitivity",103,11,"0.8735624215362114","   Immune System Diseases"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114","   Eye Diseases"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114","   Male Urogenital Diseases"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114","   Female Urogenital Diseases and Pregnancy Complications"]
["C3899281","Early Inflammatory Arthritis",103,11,"0.8735624215362114"]
["C0021295","Infant, Premature, Diseases",37,11,"0.742036900172199","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028841","Ocular Hypotension",37,11,"0.742036900172199","   Eye Diseases"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199","   Male Urogenital Diseases"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199","   Female Urogenital Diseases and Pregnancy Complications"]
["C0152105","Hypertensive heart disease",37,11,"0.742036900172199"]
["C0740447","Diabetic peripheral neuropathy",37,11,"0.742036900172199"]
["C0741949","Cardiovascular Pathology",37,11,"0.6705414037844284"]
["C1096293","Macroangiopathy",37,11,"0.48674500112538505"]
["C1135196","Heart Failure, Diastolic",37,11,"-0.2529024267279328","   Cardiovascular Diseases"]
["C1301700","Cardiovascular morbidity",37,11,"0.24729745995444893"]
["C1533172","Infantile nystagmus syndrome",37,11,"0.742036900172199"]
["C2349195","Acute Anterior Wall Myocardial Infarction",37,11,"0.742036900172199","   Cardiovascular Diseases"]
["C0043124","West Nile Fever",1482,10,"0.8920888999971543","   Nervous System Diseases"]
["C0282312","Bubonic Plague",1482,10,"0.8940559888874083","   Infections"]
["C0404521","Infective vaginitis",1482,10,"0.8940559888874083"]
["C0497169","hiv-infection/aids",1482,10,"0.6285070490394137"]
["C0751583","Encephalitis, West Nile Fever",1482,10,"0.8915316185351188","   Nervous System Diseases"]
["C0751584","West Nile Fever Meningitis",1482,10,"0.8940559888874083","   Nervous System Diseases"]
["C0751585","West Nile Fever Meningoencephalitis",1482,10,"0.8940559888874083","   Nervous System Diseases"]
["C0751586","West Nile Fever Myelitis",1482,10,"0.8940559888874083","   Nervous System Diseases"]
["C0948192","Primary infection NOS",1482,10,"0.31706770862955735"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083","   Nutritional and Metabolic Diseases"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083","   Endocrine System Diseases"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083","   Immune System Diseases"]
["C0037023","Sialadenitis",1391,10,"0.9926755805495429","   Stomatognathic Diseases"]
["C0157843","Infective arthritis of shoulder region",1391,10,"0.9991842395001611"]
["C0157844","Unspecified infective arthritis involving upper arm",1391,10,"0.9991842395001611"]
["C0157845","Unspecified infective arthritis involving forearm",1391,10,"0.9991842395001611"]
["C0157846","Unspecified infective arthritis involving hand",1391,10,"0.9991842395001611"]
["C0157847","Unspecified infective arthritis, pelvic region and thigh",1391,10,"0.9991842395001611"]
["C0157848","Unspecified infective arthritis involving lower leg",1391,10,"0.9991842395001611"]
["C0157849","Unspecified infective arthritis, ankle and foot",1391,10,"0.9991842395001611"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611","   Infections"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611","   Immune System Diseases"]
["C3151379","OKT4 EPITOPE DEFICIENCY",1391,10,"0.9991842395001611"]
["C0042842","Vitamin A Deficiency",1309,10,"-0.06260598941674932","   Nutritional and Metabolic Diseases"]
["C0152455","Keratomalacia",1309,10,"0.7743075307898749","   Nutritional and Metabolic Diseases"]
["C0271271","Xerotic keratitis",1309,10,"0.7743075307898749","   Nutritional and Metabolic Diseases"]
["C0406481","Comedonal acne",1309,10,"0.7743075307898749"]
["C0856901","Retinol Deficiency",1309,10,"0.7743075307898749","   Nutritional and Metabolic Diseases"]
["C3151228","RETINITIS PIGMENTOSA 38 (disorder)",1309,10,"-0.1846262653818366"]
["C3553016","Peripheral retinal atrophy",1309,10,"0.5935669506391431"]
["C3554593","RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",1309,10,"0.7743075307898749"]
["C4225330","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10",1309,10,"0.7743075307898749"]
["C4477027","Comedogenic acne",1309,10,"0.7743075307898749"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981","   Nervous System Diseases"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981","   Immune System Diseases"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","   Nervous System Diseases"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","   Immune System Diseases"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981","   Nervous System Diseases"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981","   Immune System Diseases"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981","   Nervous System Diseases"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981","   Nutritional and Metabolic Diseases"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954","   Nervous System Diseases"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954","   Eye Diseases"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954","   Pathological Conditions, Signs and Symptoms"]
["C3150914","MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)",1143,10,"0.8880149060978981"]
["C3683791","Ataxia Neuropathy Spectrum",1143,10,"0.8880149060978981","   Nutritional and Metabolic Diseases"]
["C4225153","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",1143,10,"0.8880149060978981"]
["C4225409","EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY",1143,10,"0.8880149060978981"]
["C4225440","EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",1143,10,"0.8880149060978981"]
["C0085541","Epilepsy, Frontal Lobe",1038,10,"0.7635039684443805","   Nervous System Diseases"]
["C0393671","Frontal Epilepsy, Benign, Childhood",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C0393683","Epilepsy, Supplementary Motor",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C0393684","Epilepsy, Cingulate",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C0393688","Epilepsy, Opercular",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C0751642","Epilepsy, Anterior Fronto-Polar",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C0751643","Epilepsy, Orbito-Frontal",1038,10,"0.7113562741373897","   Nervous System Diseases"]
["C1838049","Epilepsy, Nocturnal Frontal Lobe, Type 1",1038,10,"0.12028915682573223","   Nervous System Diseases"]
["C1854335","Epilepsy, Nocturnal Frontal Lobe, Type 3",1038,10,"0.11825610529682665","   Nervous System Diseases"]
["C3696898","Autosomal Dominant Nocturnal Frontal Lobe Epilepsy",1038,10,"0.3706891001071476","   Nervous System Diseases"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0","   Skin and Connective Tissue Diseases"]
["C0238115","Boerhaave syndrome",1011,10,"1.0","   Digestive System Diseases"]
["C0238115","Boerhaave syndrome",1011,10,"1.0","   Respiratory Tract Diseases"]
["C0238115","Boerhaave syndrome",1011,10,"1.0","   Wounds and Injuries"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0","   Skin and Connective Tissue Diseases"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0","   Skin and Connective Tissue Diseases"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0","   Skin and Connective Tissue Diseases"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0","   Skin and Connective Tissue Diseases"]
["C2675683","Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage",1011,10,"1.0"]
["C4302547","Dystrophic epidermolysis bullosa nails only",1011,10,"1.0"]
["C4511056","Centripetalis recessive dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C4518087","Acral dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C0016064","Fibrous Dysplasia, Monostotic",612,10,"0.8694170526648481","   Musculoskeletal Diseases"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","   Musculoskeletal Diseases"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","   Nutritional and Metabolic Diseases"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904","   Musculoskeletal Diseases"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904","   Nutritional and Metabolic Diseases"]
["C0242292","McCune-Albright Syndrome",612,10,"0.858137083114479","   Musculoskeletal Diseases"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481","   Musculoskeletal Diseases"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481","   Skin and Connective Tissue Diseases"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481","   Nutritional and Metabolic Diseases"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481","   Pathological Conditions, Signs and Symptoms"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056","   Musculoskeletal Diseases"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056","   Nutritional and Metabolic Diseases"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481","   Musculoskeletal Diseases"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481","   Nutritional and Metabolic Diseases"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484","   Musculoskeletal Diseases"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484","   Nutritional and Metabolic Diseases"]
["C3697137","Fibrous dysplasia of bone with intramuscular myxoma",612,10,"0.8694170526648481"]
["C0026919","Mycobacterium Infections, Nontuberculous",523,10,"1.0","   Infections"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0"]
["C0694566","Atypical Mycobacterial Infection, Disseminated",523,10,"1.0"]
["C1112429","Interferon gamma receptor deficiency",523,10,"1.0"]
["C1608955","Mycobacterium abscessus Infection",523,10,"1.0","   Infections"]
["C2930924","Interferon gamma, receptor 1, deficiency",523,10,"1.0"]
["C3266863","Atypical Mycobacteriosis, Familial",523,10,"1.0","   Infections"]
["C4011949","IMMUNODEFICIENCY 27A",523,10,"1.0"]
["C4014863","IMMUNODEFICIENCY 27B",523,10,"1.0"]
["C4288927","IFN-gamma Receptor 1 Deficiency",523,10,"1.0"]
["C0003907","Arthus Reaction",485,10,"0.6000971160313326","   Immune System Diseases"]
["C0014534","Epididymitis",485,10,"0.4276040266714033","   Male Urogenital Diseases"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655","   Hemic and Lymphatic Diseases"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655","   Immune System Diseases"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927","   Hemic and Lymphatic Diseases"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927","   Immune System Diseases"]
["C0398764","Complement Factor D Deficiency",485,10,"-0.19548728776622476","   Immune System Diseases"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Musculoskeletal Diseases"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Nervous System Diseases"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Hemic and Lymphatic Diseases"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Endocrine System Diseases"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484","   Immune System Diseases"]
["C0522274","Humoral immune defect",485,10,"0.7419300598689362"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362"]
["C3806660","Enteroviral dermatomyositis syndrome",485,10,"0.7419300598689362"]
["C4280547","Infected joint",485,10,"0.7419300598689362"]
["C1300256","Thanatophoric dysplasia, type 1",252,10,"0.9998494245230437"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784","   Musculoskeletal Diseases"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437"]
["C1834928","Cloverleaf skull micromelia thoracic dysplasia",252,10,"0.9998494245230437"]
["C1851152","SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS",252,10,"0.9998494245230437"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437","   Musculoskeletal Diseases"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437","   Musculoskeletal Diseases"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437","   Otorhinolaryngologic Diseases"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437","   Nervous System Diseases"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437","   Pathological Conditions, Signs and Symptoms"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199","   Musculoskeletal Diseases"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437","   Musculoskeletal Diseases"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437","   Skin and Connective Tissue Diseases"]
["C2931282","Skeletal dysplasia, San Diego type",252,10,"0.9998494245230437"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024","   Cardiovascular Diseases"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024","   Pathological Conditions, Signs and Symptoms"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024","   Male Urogenital Diseases"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024","   Female Urogenital Diseases and Pregnancy Complications"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024","   Cardiovascular Diseases"]
["C0021845","Intestinal Perforation",163,10,"0.03238384849988696","   Digestive System Diseases"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907","   Cardiovascular Diseases"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907","   Pathological Conditions, Signs and Symptoms"]
["C0162869","Aneurysm, Ruptured",163,10,"0.7581173950476024","   Cardiovascular Diseases"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883","   Respiratory Tract Diseases"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883","   Hemic and Lymphatic Diseases"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996","   Female Urogenital Diseases and Pregnancy Complications"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996","   Cardiovascular Diseases"]
["C1257763","Overnutrition",163,10,"0.7525548746269481","   Nutritional and Metabolic Diseases"]
["C1442839","Hypervitaminosis D",163,10,"0.73652669314996"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024","   Cardiovascular Diseases"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024","   Pathological Conditions, Signs and Symptoms"]
["C0011389","Dental Plaque",64,10,"1.0","   Stomatognathic Diseases"]
["C0265101","Carotid artery occlusion",64,10,"1.0"]
["C0520574","Cerebrovascular amyloidosis",64,10,"1.0"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0","   Nervous System Diseases"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0","   Cardiovascular Diseases"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0","   Nervous System Diseases"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0","   Cardiovascular Diseases"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0","   Nervous System Diseases"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0","   Cardiovascular Diseases"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0","   Nervous System Diseases"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0","   Cardiovascular Diseases"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0","   Nervous System Diseases"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0","   Cardiovascular Diseases"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0","   Nervous System Diseases"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0","   Cardiovascular Diseases"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0","   Nutritional and Metabolic Diseases"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222","   Nutritional and Metabolic Diseases"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435","   Nervous System Diseases"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435","   Nutritional and Metabolic Diseases"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435","   Nutritional and Metabolic Diseases"]
["C1856302","GSD IV, Nonprogressive Hepatic",1943,9,"0.9999178147408435"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435","   Nervous System Diseases"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435","   Nutritional and Metabolic Diseases"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435","   Nervous System Diseases"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435","   Nutritional and Metabolic Diseases"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435","   Nervous System Diseases"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435","   Nutritional and Metabolic Diseases"]
["C1856306","GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy",1943,9,"0.9999178147408435"]
["C2936914","Cirrhosis, familial, with deposition of abnormal glycogen",1943,9,"0.9999178147408435"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305","   Nervous System Diseases"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305","   Endocrine System Diseases"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133","   Nervous System Diseases"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133","   Endocrine System Diseases"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031","   Skin and Connective Tissue Diseases"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738","   Infections"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738","   Immune System Diseases"]
["C1845117","Immunodeficiency without anhidrotic ectodermal dysplasia",1512,9,"0.9882351159840738","   Immune System Diseases"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738","   Musculoskeletal Diseases"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738","   Hemic and Lymphatic Diseases"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738","   Skin and Connective Tissue Diseases"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738","   Immune System Diseases"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177","   Skin and Connective Tissue Diseases"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177","   Immune System Diseases"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","   Hemic and Lymphatic Diseases"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","   Skin and Connective Tissue Diseases"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738","   Immune System Diseases"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738","   Infections"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930820","Incontinentia pigmenti, familial male-lethal type",1512,9,"0.9882351159840738"]
["C4025314","Atrophic, patchy alopecia",1512,9,"0.9882351159840738"]
["C0007852","Cervical Migraine Syndrome",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0018984","Hemicrania migraine",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0042331","Migraine Variant",1398,9,"0.7160055476090497"]
["C0149931","Migraine Disorders",1398,9,"0.5559143549632166","   Nervous System Diseases"]
["C0270858","Abdominal Migraine",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0338489","Status Migrainosus",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0521664","Acute Confusional Migraine",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0700438","Sick Headaches",1398,9,"0.7501617077033723","   Nervous System Diseases"]
["C0744641","Intermittent migraine headaches",1398,9,"-0.32284017203017445"]
["C0865474","Parkinsonism or Parkinson\\'s disease NOS",1378,9,"1.0"]
["C0865475","Idiopathic Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C0865476","Primary Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C1399358","Hemiparkinsonism",1378,9,"1.0"]
["C1851957","Diffuse Lewy Body Disease with Gaze Palsy",1378,9,"1.0"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0","   Nervous System Diseases"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0","   Mental Disorders"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0","   Nervous System Diseases"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0","   Mental Disorders"]
["C1868595","PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)",1378,9,"1.0"]
["C1868596","Atypical Parkinson Disease",1378,9,"1.0","   Nervous System Diseases"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224","   Musculoskeletal Diseases"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064","   Musculoskeletal Diseases"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064","   Skin and Connective Tissue Diseases"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064","   Pathological Conditions, Signs and Symptoms"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064","   Musculoskeletal Diseases"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064","   Stomatognathic Diseases"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064","   Eye Diseases"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005","   Musculoskeletal Diseases"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064","   Skin and Connective Tissue Diseases"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064","   Pathological Conditions, Signs and Symptoms"]
["C3151468","PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1",1206,9,"0.9863358600890064"]
["C3275750","ATRIOVENTRICULAR SEPTAL DEFECT 3",1206,9,"0.9863358600890064"]
["C4479619","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3",1206,9,"0.9863358600890064"]
["C1306122","Oguchi disease",1122,9,"0.3824593538729675","   Eye Diseases"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747","   Eye Diseases"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372","   Eye Diseases"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896","   Eye Diseases"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686","   Eye Diseases"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303","   Eye Diseases"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3551052","Night blindness, stationary",1122,9,"0.7006168224170927"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092","   Eye Diseases"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716","   Eye Diseases"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019","   Neoplasms"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019","   Nervous System Diseases"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019","   Immune System Diseases"]
["C0154674","Symptomatic torsion dystonia",1078,9,"0.9895425567163028"]
["C0154675","Fragments of torsion dystonia",1078,9,"0.9895425567163028"]
["C0393601","Idiopathic non-familial dystonia",1078,9,"0.9895425567163028"]
["C0477373","Other forms of migraine",1078,9,"0.9895425567163028"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895","   Nervous System Diseases"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895","   Eye Diseases"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895","   Pathological Conditions, Signs and Symptoms"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543","   Nervous System Diseases"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543","   Pathological Conditions, Signs and Symptoms"]
["C1832903","MIGRAINE, SPORADIC HEMIPLEGIC",1078,9,"0.9737107402936381","   Nervous System Diseases"]
["C4310716","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42",1078,9,"0.9895425567163028"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248","   Nutritional and Metabolic Diseases"]
["C0546389","Hepatic periportal necrosis",1068,9,"0.9271356085439709"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971","   Nutritional and Metabolic Diseases"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971","   Nutritional and Metabolic Diseases"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644","   Nutritional and Metabolic Diseases"]
["C3278154","GLUTARIC ACIDEMIA IIA",1068,9,"0.9134846171054567"]
["C3278155","GLUTARIC ACIDEMIA IIB",1068,9,"0.9105785627032866"]
["C3278156","GLUTARIC ACIDEMIA IIC",1068,9,"0.9154013645596661"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","   Male Urogenital Diseases"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","   Nutritional and Metabolic Diseases"]
["C1861453","Pseudohyperkalemia Cardiff",1053,9,"0.6837302474041852","   Nutritional and Metabolic Diseases"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636","   Hemic and Lymphatic Diseases"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862323","Southeast Asian ovalocytosis",1053,9,"0.9297508291212638"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636","   Hemic and Lymphatic Diseases"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636","   Male Urogenital Diseases"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636","   Female Urogenital Diseases and Pregnancy Complications"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636","   Hemic and Lymphatic Diseases"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636","   Nutritional and Metabolic Diseases"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636","   Male Urogenital Diseases"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636","   Female Urogenital Diseases and Pregnancy Complications"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636","   Nutritional and Metabolic Diseases"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636","   Hemic and Lymphatic Diseases"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4022665","Isothenuria",1053,9,"0.9317019562839636"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419","   Skin and Connective Tissue Diseases"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","   Skin and Connective Tissue Diseases"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412","   Skin and Connective Tissue Diseases"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772","   Skin and Connective Tissue Diseases"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194","   Skin and Connective Tissue Diseases"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743","   Skin and Connective Tissue Diseases"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888","   Skin and Connective Tissue Diseases"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885","   Skin and Connective Tissue Diseases"]
["C4511230","Bathing suit ichthyosis",995,9,"0.4289803981348961"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761","   Neoplasms"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761","   Respiratory Tract Diseases"]
["C0742468","Central nervous system lesion",740,9,"0.6383404306425577"]
["C0850741","Smoker\\'s lung",740,9,"0.4987757851787712"]
["C1167791","Skin toxicity",740,9,"0.5207036422508302"]
["C1512127","HER2 gene amplification",740,9,"0.21983729850888975"]
["C1559154","Rash and Dermatitis Adverse Event Associated with Chemoradiation",740,9,"0.055944302781270626"]
["C3266262","Multiple Chronic Conditions",740,9,"0.2803455268777472","   Pathological Conditions, Signs and Symptoms"]
["C3539781","Progressive cGVHD",740,9,"0.2558970703111747"]
["C4015130","INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",740,9,"0.6383404306425577"]
["C0270970","Reducing-body myopathy",734,9,"0.9800977569243934"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934","   Musculoskeletal Diseases"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934","   Nervous System Diseases"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934","   Musculoskeletal Diseases"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934","   Nervous System Diseases"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934","   Musculoskeletal Diseases"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934","   Nervous System Diseases"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669","   Musculoskeletal Diseases"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669","   Nervous System Diseases"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934","   Musculoskeletal Diseases"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934","   Nervous System Diseases"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949","   Musculoskeletal Diseases"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949","   Nervous System Diseases"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225159","REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",734,9,"0.9800977569243934"]
["C4225423","REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",734,9,"0.9800977569243934"]
["C0025239","Melorheostosis",679,9,"0.9590810313320987","   Musculoskeletal Diseases"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804","   Musculoskeletal Diseases"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804","   Skin and Connective Tissue Diseases"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128","   Musculoskeletal Diseases"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128","   Skin and Connective Tissue Diseases"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987","   Musculoskeletal Diseases"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987","   Skin and Connective Tissue Diseases"]
["C2931505","Mixed sclerosing bone dystrophy",679,9,"0.9590810313320987","   Musculoskeletal Diseases"]
["C3149399","DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",679,9,"0.9590810313320987"]
["C3149631","MELORHEOSTOSIS, ISOLATED",679,9,"0.9590810313320987"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987","   Musculoskeletal Diseases"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987","   Skin and Connective Tissue Diseases"]
["C4305140","12q14 microdeletion syndrome",679,9,"0.7153201322878779"]
["C0158447","Idiopathic osteoporosis",572,9,"0.6786925250174957"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957","   Musculoskeletal Diseases"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957","   Skin and Connective Tissue Diseases"]
["C0432273","Worth disease",572,9,"0.6786925250174957","   Musculoskeletal Diseases"]
["C0432273","Worth disease",572,9,"0.6786925250174957","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957","   Musculoskeletal Diseases"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843330","OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",572,9,"0.6786925250174957","   Musculoskeletal Diseases"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612","   Nervous System Diseases"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612","   Eye Diseases"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612","   Pathological Conditions, Signs and Symptoms"]
["C1866176","EXUDATIVE VITREORETINOPATHY 4 (disorder)",572,9,"0.6786925250174957","   Eye Diseases"]
["C1866180","Horizontal pendular nystagmus",572,9,"0.4673117248178364"]
["C4021951","Vertebral body sclerosis",572,9,"0.6786925250174957"]
["C0266491","Neuronal heterotopia",538,9,"0.4903918513767565"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175","   Musculoskeletal Diseases"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1419610","RP23 gene",538,9,"0.5574660662561307"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497","   Musculoskeletal Diseases"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846175","SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)",538,9,"0.5574660662561307","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444","   Neoplasms"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444","   Otorhinolaryngologic Diseases"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444","   Nervous System Diseases"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444","   Pathological Conditions, Signs and Symptoms"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307","   Nervous System Diseases"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307","   Pathological Conditions, Signs and Symptoms"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307","   Musculoskeletal Diseases"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3554657","LISSENCEPHALY 5",538,9,"-0.021094451145836367"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919","   Musculoskeletal Diseases"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425","   Musculoskeletal Diseases"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425","   Skin and Connective Tissue Diseases"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425","   Pathological Conditions, Signs and Symptoms"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665","   Nervous System Diseases"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848214","Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia",489,9,"0.8633932514975425"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002","   Nervous System Diseases"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425","   Digestive System Diseases"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425","   Musculoskeletal Diseases"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748919","Frontootopalatodigital Osteodysplasia",489,9,"0.8633932514975425"]
["C3806579","CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",489,9,"0.8633932514975425"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962","   Eye Diseases"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975","   Nervous System Diseases"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975","   Endocrine System Diseases"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447","   Eye Diseases"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962","   Eye Diseases"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962","   Eye Diseases"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962","   Nervous System Diseases"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962","   Endocrine System Diseases"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962","   Nervous System Diseases"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962","   Endocrine System Diseases"]
["C1835677","Keratoconus 1",469,9,"0.9149467475944513","   Eye Diseases"]
["C3280099","CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME",469,9,"0.9420761249132962"]
["C0272005","Hemoglobin Bart\\'s hydrops syndrome",216,9,"0.9471710886523605"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817","   Otorhinolaryngologic Diseases"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817","   Nervous System Diseases"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817","   Endocrine System Diseases"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817","   Pathological Conditions, Signs and Symptoms"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817","   Nervous System Diseases"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817","   Pathological Conditions, Signs and Symptoms"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817","   Behavior and Behavior Mechanisms"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817","   Mental Disorders"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177","   Nervous System Diseases"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177","   Hemic and Lymphatic Diseases"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845298","MENTAL RETARDATION, X-LINKED 52",216,9,"0.1610886461493762"]
["C2873754","Severe alpha thalassemia",216,9,"0.9615459918125817"]
["C2873755","Triple gene defect alpha thalassemia",216,9,"0.9615459918125817"]
["C3161173","Hemoglobin H Constant Spring",216,9,"0.9615459918125817"]
["C3161175","Hydrops fetalis due to alpha thalassemia",216,9,"0.9615459918125817"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304","   Hemic and Lymphatic Diseases"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015702","Favism",166,9,"0.9068857450061543","   Hemic and Lymphatic Diseases"]
["C0015702","Favism",166,9,"0.9068857450061543","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015702","Favism",166,9,"0.9068857450061543","   Chemically-Induced Disorders"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543","   Hemic and Lymphatic Diseases"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543","   Immune System Diseases"]
["C0272132","Drug-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0472790","Chronic non-spherocytic hemolytic anemia",166,9,"0.9068857450061543"]
["C0520572","Enzymopathy",166,9,"0.9007307631074732"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663","   Hemic and Lymphatic Diseases"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663","   Nutritional and Metabolic Diseases"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824","   Hemic and Lymphatic Diseases"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824","   Nutritional and Metabolic Diseases"]
["C4021648","Fava bean-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0000880","Acanthamoeba Keratitis",93,9,"0.9238516356314508","   Eye Diseases"]
["C0036685","Septicaemia due to gram-negative organism, unspecified",93,9,"0.533549232007681"]
["C0262380","Asymptomatic bacteriuria",93,9,"0.7177161229130913"]
["C0744471","Gram-negative bacteremia",93,9,"0.9238516356314508"]
["C1864267","Endotoxin Hyporesponsiveness",93,9,"0.9238516356314508","   Immune System Diseases"]
["C1969108","Macular Degeneration, Age-Related, 10",93,9,"0.9238516356314508"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508","   Infections"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508","   Respiratory Tract Diseases"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508","   Infections"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508","   Respiratory Tract Diseases"]
["C4049883","Obstructive Ureterocele",93,9,"0.9238516356314508"]
["C0024140","Lupus Erythematosus, Subacute Cutaneous",55,9,"0.7340179452623813","   Skin and Connective Tissue Diseases"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421","   Respiratory Tract Diseases"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421","   Immune System Diseases"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421","   Occupational Diseases"]
["C0206178","Cytomegalovirus Retinitis",55,9,"0.9579441245933421","   Eye Diseases"]
["C0276622","Acute viral hepatitis",55,9,"0.9579441245933421"]
["C0340354","Q fever endocarditis",55,9,"0.9579441245933421"]
["C0678201","Terminal Ileitis",55,9,"0.9579441245933421"]
["C2348101","Destructive Arthritis",55,9,"0.9579441245933421"]
["C3826604","Celiac disease in children",55,9,"0.9579441245933421"]
["C3890941","Acute Motor Axonal Neuropathy",55,9,"0.9579441245933421"]
["C0271355","Abducens Nerve Diseases",2,9,"1.0"]
["C1838492","SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)",2,9,"1.0","   Nervous System Diseases"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0","   Musculoskeletal Diseases"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0","   Nervous System Diseases"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0","   Nervous System Diseases"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0","   Musculoskeletal Diseases"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0","   Musculoskeletal Diseases"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0","   Endocrine System Diseases"]
["C4024611","Nonprogressive muscular atrophy",2,9,"1.0"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976","   Nervous System Diseases"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976","   Nutritional and Metabolic Diseases"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742","   Nervous System Diseases"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742","   Nutritional and Metabolic Diseases"]
["C0154778","Myopia, Degenerative",2035,8,"0.012251863619428949","   Eye Diseases"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797","   Nervous System Diseases"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797","   Nutritional and Metabolic Diseases"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555","   Nervous System Diseases"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555","   Nutritional and Metabolic Diseases"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509","   Nervous System Diseases"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509","   Nutritional and Metabolic Diseases"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509","   Nervous System Diseases"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509","   Nutritional and Metabolic Diseases"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509","   Nervous System Diseases"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509","   Nutritional and Metabolic Diseases"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509","   Nervous System Diseases"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509","   Nutritional and Metabolic Diseases"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509","   Nervous System Diseases"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509","   Nutritional and Metabolic Diseases"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354","   Nutritional and Metabolic Diseases"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894","   Nutritional and Metabolic Diseases"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894","   Nutritional and Metabolic Diseases"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894","   Nutritional and Metabolic Diseases"]
["C1968742","Glycogen Storage Disease IIID",1944,8,"0.9933621163568894"]
["C2936915","Amylo-1,6-glucosidase deficiency",1944,8,"0.9933621163568894"]
["C3695006","GLYCOGEN STORAGE DISEASE, TYPE IIIb",1944,8,"0.9933621163568894"]
["C3695007","GLYCOGEN STORAGE DISEASE, TYPE IIIa",1944,8,"0.9933621163568894"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797","   Nervous System Diseases"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797","   Cardiovascular Diseases"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","   Nervous System Diseases"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687","   Cardiovascular Diseases"]
["C0024591","Malignant hyperpyrexia due to anesthesia",1732,8,"0.8286985703814619","   Pathological Conditions, Signs and Symptoms"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219","   Musculoskeletal Diseases"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219","   Nervous System Diseases"]
["C1840365","King Denborough syndrome",1732,8,"0.9533484815040281","   Pathological Conditions, Signs and Symptoms"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977","   Musculoskeletal Diseases"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977","   Nervous System Diseases"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977","   Eye Diseases"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977","   Pathological Conditions, Signs and Symptoms"]
["C1861751","Minicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861752","Multicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281","   Musculoskeletal Diseases"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281","   Nervous System Diseases"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281","   Musculoskeletal Diseases"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281","   Nervous System Diseases"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","   Nervous System Diseases"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","   Nutritional and Metabolic Diseases"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693","   Nervous System Diseases"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693","   Nutritional and Metabolic Diseases"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693","   Nervous System Diseases"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693","   Nutritional and Metabolic Diseases"]
["C1867717","SAPOSIN D (disease)",1697,8,"0.7169491968775693"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693","   Nervous System Diseases"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693","   Nutritional and Metabolic Diseases"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693","   Nervous System Diseases"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693","   Nutritional and Metabolic Diseases"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614","   Nutritional and Metabolic Diseases"]
["C4023499","Generalized clonic seizures",1697,8,"0.6117026369525251"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Otorhinolaryngologic Diseases"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Nervous System Diseases"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Eye Diseases"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Pathological Conditions, Signs and Symptoms"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Behavior and Behavior Mechanisms"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008","   Mental Disorders"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779","   Nervous System Diseases"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779","   Eye Diseases"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779","   Nutritional and Metabolic Diseases"]
["C0730309","Inherited optic neuropathy",1520,8,"0.8982322948388008"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316","   Neoplasms"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316","   Skin and Connective Tissue Diseases"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008","   Otorhinolaryngologic Diseases"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008","   Nervous System Diseases"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008","   Eye Diseases"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008","   Pathological Conditions, Signs and Symptoms"]
["C3276549","OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",1520,8,"0.8969385499601228"]
["C4225163","MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)",1520,8,"0.8982322948388008"]
["C4275164","Autosomal dominant optic atrophy plus syndrome",1520,8,"0.8982322948388008"]
["C0751776","Atypical Inclusion-Body Disease",1484,8,"0.7621691076824937","   Nervous System Diseases"]
["C0751777","Familial Progressive Myoclonic Epilepsy",1484,8,"0.7621691076824937","   Nervous System Diseases"]
["C0751778","Myoclonic Epilepsies, Progressive",1484,8,"0.7065093991195834","   Nervous System Diseases"]
["C0751779","Action Myoclonus-Renal Failure Syndrome",1484,8,"0.6416655202717283","   Nervous System Diseases"]
["C0751780","Biotin-Responsive Encephalopathy",1484,8,"0.7621691076824937","   Nervous System Diseases"]
["C0751781","Dentatorubral-Pallidoluysian Atrophy",1484,8,"0.7049757231816715","   Nervous System Diseases"]
["C0751782","May-White Syndrome",1484,8,"0.7621691076824937","   Nervous System Diseases"]
["C4021759","Generalized myoclonic seizures",1484,8,"-0.12495320563348299"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355","   Skin and Connective Tissue Diseases"]
["C0265234","Branchio-Oto-Renal Syndrome",1283,8,"0.32868895541348697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0376524","Branchio-Oculo-Facial Syndrome",1283,8,"-0.21518455895815086","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865143","BRANCHIOOTIC SYNDROME 1",1283,8,"0.002523954174933355","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970479","Branchiootorenal Syndrome 2",1283,8,"0.370317925827299","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3551443","ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT",1283,8,"0.12954276709962123"]
["C3714941","OTOFACIOCERVICAL SYNDROME 1",1283,8,"-0.35773093630492153"]
["C4023411","Hemifacial hypoplasia",1283,8,"0.13737215279501558"]
["C1832230","Peroxisome Biogenesis Disorder, Complementation Group 4",1186,8,"0.7408748471446291"]
["C1832231","Peroxisome Biogenesis Disorder, Complementation Group 6",1186,8,"0.7408748471446291"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798","   Nutritional and Metabolic Diseases"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209","   Nervous System Diseases"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553538","BROWN-VIALETTO-VAN LAERE SYNDROME 2",1186,8,"-0.08228834986526815"]
["C3553936","PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)",1186,8,"0.7408748471446291"]
["C3553937","PEROXISOME BIOGENESIS DISORDER 4B",1186,8,"0.7408748471446291"]
["C4225267","HEIMLER SYNDROME 2",1186,8,"0.7408748471446291"]
["C1415817","HETEROTAXY, VISCERAL, 2, AUTOSOMAL",1133,8,"0.35958686099358655"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846","   Cardiovascular Diseases"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846","   Hemic and Lymphatic Diseases"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606","   Cardiovascular Diseases"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606","   Hemic and Lymphatic Diseases"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931228","VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",1133,8,"0.1539267239679174"]
["C3151057","HETEROTAXY, VISCERAL, 4, AUTOSOMAL",1133,8,"0.224354478906329"]
["C3151867","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",1133,8,"0.6195813479742105"]
["C3553676","HETEROTAXY, VISCERAL, 6, AUTOSOMAL",1133,8,"0.47651770898072154"]
["C4274029","Biliary atresia with splenic malformation syndrome",1133,8,"-0.4702507365651105"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685","   Nervous System Diseases"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685","   Nutritional and Metabolic Diseases"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685","   Pathological Conditions, Signs and Symptoms"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","   Nervous System Diseases"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","   Nutritional and Metabolic Diseases"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","   Pathological Conditions, Signs and Symptoms"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685","   Nervous System Diseases"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685","   Nutritional and Metabolic Diseases"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685","   Pathological Conditions, Signs and Symptoms"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685","   Nervous System Diseases"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685","   Nutritional and Metabolic Diseases"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685","   Pathological Conditions, Signs and Symptoms"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679","   Male Urogenital Diseases"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679","   Female Urogenital Diseases and Pregnancy Complications"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679","   Nutritional and Metabolic Diseases"]
["C3151295","HYPOMAGNESEMIA 6, RENAL",1012,8,"0.7250818753428685"]
["C4225333","HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION",1012,8,"0.7250818753428685"]
["C4510731","Familial primary hypomagnesemia with normocalciuria and normocalcemia",1012,8,"0.6372231128137914"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728","   Hemic and Lymphatic Diseases"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014800","Erythroid hyperplasia",880,8,"0.03757468942048783"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513","   Hemic and Lymphatic Diseases"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182","   Hemic and Lymphatic Diseases"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0678199","Anemia of inadequate production",880,8,"-0.1460776513473016"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393","   Hemic and Lymphatic Diseases"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4025183","Macrocytic dyserythropoietic anemia",880,8,"0.34625443344394524"]
["C4225179","COWDEN SYNDROME 7",880,8,"0.05101840833974681"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121","   Nervous System Diseases"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189","   Nervous System Diseases"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643","   Nervous System Diseases"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189","   Nervous System Diseases"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189","   Nervous System Diseases"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156","   Nervous System Diseases"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189","   Nervous System Diseases"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024710","Cerebellar cortical atrophy",871,8,"-0.02246949520390459"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156","   Eye Diseases"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860406","VITREORETINOCHOROIDOPATHY (disorder)",794,8,"0.99720921350546"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546","   Eye Diseases"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546","   Eye Diseases"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546","   Eye Diseases"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546","   Eye Diseases"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888099","Autosomal dominant vitreoretinochoroidopathy",794,8,"0.99720921350546"]
["C3888198","BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",794,8,"0.99720921350546"]
["C1320640","Peripheral degeneration of retina",789,8,"0.7738615683297322"]
["C1837029","Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",789,8,"0.2913636212590398","   Eye Diseases"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891","   Eye Diseases"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868569","Patterned dystrophy of retinal pigment epithelium",789,8,"0.6979186189155734","   Eye Diseases"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322","   Eye Diseases"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751290","CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",789,8,"0.7738615683297322","   Eye Diseases"]
["C4024776","Reticular retinal dystrophy",789,8,"0.7738615683297322"]
["C4509881","Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus",789,8,"0.7738615683297322"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758","   Female Urogenital Diseases and Pregnancy Complications"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758","   Skin and Connective Tissue Diseases"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485","   Female Urogenital Diseases and Pregnancy Complications"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485","   Pathological Conditions, Signs and Symptoms"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","   Nervous System Diseases"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","   Endocrine System Diseases"]
["C0034040","Puerperal Disorders",755,8,"0.6139125893059771","   Female Urogenital Diseases and Pregnancy Complications"]
["C0751230","Hypothalamic Dysfunction Syndromes",755,8,"0.6139125893059771","   Nervous System Diseases"]
["C1449720","Adolescent Gynecomastia",755,8,"0.6139125893059771","   Skin and Connective Tissue Diseases"]
["C1449721","Infant Gynecomastia",755,8,"0.6139125893059771","   Skin and Connective Tissue Diseases"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779","   Female Urogenital Diseases and Pregnancy Complications"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779","   Skin and Connective Tissue Diseases"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","   Nervous System Diseases"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","   Nutritional and Metabolic Diseases"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418","   Skin and Connective Tissue Diseases"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418","   Nutritional and Metabolic Diseases"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677","   Nervous System Diseases"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677","   Nutritional and Metabolic Diseases"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677","   Nervous System Diseases"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677","   Nutritional and Metabolic Diseases"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677","   Nervous System Diseases"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677","   Nutritional and Metabolic Diseases"]
["C1968746","Gangliosidosis, Generalized GM1, Late-Infantile Type",599,8,"0.9824472859306677"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677","   Nervous System Diseases"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677","   Cardiovascular Diseases"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677","   Nutritional and Metabolic Diseases"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677","   Nervous System Diseases"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677","   Nutritional and Metabolic Diseases"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978","   Musculoskeletal Diseases"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978","   Nutritional and Metabolic Diseases"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978","   Endocrine System Diseases"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062","   Musculoskeletal Diseases"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062","   Nutritional and Metabolic Diseases"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062","   Endocrine System Diseases"]
["C0271690","Type 2 diabetes mellitus with acanthosis nigricans",477,8,"0.9994747439888062"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062","   Musculoskeletal Diseases"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062","   Nutritional and Metabolic Diseases"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062","   Endocrine System Diseases"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062","   Skin and Connective Tissue Diseases"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062","   Nutritional and Metabolic Diseases"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062","   Endocrine System Diseases"]
["C0342336","Insulin resistance - type A",477,8,"0.9994747439888062"]
["C1864952","Hyperinsulinemic Hypoglycemia, Familial, 5",477,8,"0.9994747439888062","   Nutritional and Metabolic Diseases"]
["C1960636","Dysglycemia",477,8,"0.9994747439888062"]
["C0017412","Genital Diseases, Male",439,8,"0.9202045795626449","   Male Urogenital Diseases"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","   Male Urogenital Diseases"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","   Endocrine System Diseases"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603","   Musculoskeletal Diseases"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603","   Nervous System Diseases"]
["C0860159","Partial androgen resistance",439,8,"0.9202045795626449"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933","   Nervous System Diseases"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449","   Male Urogenital Diseases"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449","   Female Urogenital Diseases and Pregnancy Complications"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449","   Endocrine System Diseases"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449","   Nervous System Diseases"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449","   Male Urogenital Diseases"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449","   Endocrine System Diseases"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","   Male Urogenital Diseases"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","   Female Urogenital Diseases and Pregnancy Complications"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","   Endocrine System Diseases"]
["C0013390","Dysmenorrhea",409,8,"0.08185048481770882","   Pathological Conditions, Signs and Symptoms"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573","   Nervous System Diseases"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573","   Nutritional and Metabolic Diseases"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573","   Endocrine System Diseases"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124","   Nervous System Diseases"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124","   Cardiovascular Diseases"]
["C0342394","Familial central diabetes insipidus",409,8,"0.7895683213028573"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","   Male Urogenital Diseases"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","   Female Urogenital Diseases and Pregnancy Complications"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","   Endocrine System Diseases"]
["C0857122","Hyponatraemic",409,8,"0.7895683213028573"]
["C1136135","Water Stress",409,8,"0.7895683213028573","   Nutritional and Metabolic Diseases"]
["C1136135","Water Stress",409,8,"0.7895683213028573","   Pathological Conditions, Signs and Symptoms"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227","   Male Urogenital Diseases"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227","   Female Urogenital Diseases and Pregnancy Complications"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227","   Endocrine System Diseases"]
["C0340542","Sporadic primary pulmonary hypertension",378,8,"0.9125811377145642"]
["C0340544","Pulmonary arterial hypertension induced by drug",378,8,"0.9125811377145642"]
["C2939447","Right ventricular failure",378,8,"0.9125811377145642"]
["C3697119","Pulmonary arterial hypertension associated with congenital heart disease",378,8,"0.9125811377145642"]
["C4020753","Intimal fibrosis",378,8,"0.9125811377145642"]
["C4023403","Arterial intimal fibrosis",378,8,"0.9125811377145642"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642"]
["C0016436","Folliculitis",376,8,"0.5053871022777267","   Skin and Connective Tissue Diseases"]
["C1275091","Ichthyosis follicularis with alopecia and photophobia (IFAP)",376,8,"0.8949262044208534"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534","   Nervous System Diseases"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534","   Eye Diseases"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534","   Skin and Connective Tissue Diseases"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534","   Pathological Conditions, Signs and Symptoms"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534","   Nervous System Diseases"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534","   Eye Diseases"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534","   Skin and Connective Tissue Diseases"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534","   Pathological Conditions, Signs and Symptoms"]
["C2936846","Scarring alopecia",376,8,"0.8949262044208534"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Digestive System Diseases"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Nervous System Diseases"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Skin and Connective Tissue Diseases"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Pathological Conditions, Signs and Symptoms"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Behavior and Behavior Mechanisms"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534","   Mental Disorders"]
["C3806745","PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED",376,8,"0.8949262044208534"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934","   Skin and Connective Tissue Diseases"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121","   Skin and Connective Tissue Diseases"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822","   Skin and Connective Tissue Diseases"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255","   Skin and Connective Tissue Diseases"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661","   Skin and Connective Tissue Diseases"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934","   Skin and Connective Tissue Diseases"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019","   Skin and Connective Tissue Diseases"]
["C2673610","JEB-I",354,8,"0.843119422344277"]
["C4021730","Junctional split",354,8,"0.5710134342670009"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521","   Nutritional and Metabolic Diseases"]
["C0342342","Idiopathic Hypoparathyroidism",330,8,"0.8829785322146788","   Endocrine System Diseases"]
["C0342637","Hypocalciuric hypercalcemia, familial, type 1",330,8,"0.8194862211047983","   Nutritional and Metabolic Diseases"]
["C0345406","Neonatal hyperparathyroidism",330,8,"0.875290707550721"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721","   Male Urogenital Diseases"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721","   Female Urogenital Diseases and Pregnancy Complications"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721","   Nutritional and Metabolic Diseases"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721","   Endocrine System Diseases"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261","   Endocrine System Diseases"]
["C1840348","Hypocalciuric Hypercalcemia, Acquired",330,8,"0.875290707550721","   Nutritional and Metabolic Diseases"]
["C0014550","Myoclonic Epilepsy",323,8,"0.929047905660524","   Nervous System Diseases"]
["C0338478","Idiopathic Myoclonic Epilepsy",323,8,"0.948420157376199","   Nervous System Diseases"]
["C0338479","Symptomatic Myoclonic Epilepsy",323,8,"0.948420157376199","   Nervous System Diseases"]
["C0393695","Early Childhood Epilepsy, Myoclonic",323,8,"0.948420157376199","   Nervous System Diseases"]
["C0393702","Myoclonic Astatic Epilepsy",323,8,"0.7046903013229593","   Nervous System Diseases"]
["C0393703","Myoclonic Absence Epilepsy",323,8,"0.948420157376199","   Nervous System Diseases"]
["C0438414","Myoclonic Encephalopathy",323,8,"0.948420157376199","   Nervous System Diseases"]
["C0751120","Benign Infantile Myoclonic Epilepsy",323,8,"0.948420157376199","   Nervous System Diseases"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366","   Nervous System Diseases"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052","   Nervous System Diseases"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846388","CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",290,8,"0.996806704898052"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521","   Nervous System Diseases"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4478700","FOCAL CORTICAL DYSPLASIA, TYPE IIA",290,8,"0.996806704898052"]
["C4478701","FOCAL CORTICAL DYSPLASIA, TYPE IIB",290,8,"0.996806704898052"]
["C4479708","FCD IIA",290,8,"0.996806704898052"]
["C4479709","FCD IIB",290,8,"0.996806704898052"]
["C0032326","Pneumothorax",280,8,"0.8223784713035205","   Respiratory Tract Diseases"]
["C0149781","Spontaneous pneumothorax",280,8,"0.9541762804677217","   Respiratory Tract Diseases"]
["C0264558","Tension Pneumothorax",280,8,"0.9728018405562604","   Respiratory Tract Diseases"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654","   Neoplasms"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0546483","Lung cyst",280,8,"0.9728018405562604"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604","   Neoplasms"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604","   Skin and Connective Tissue Diseases"]
["C1868193","PNEUMOTHORAX, PRIMARY SPONTANEOUS",280,8,"0.9720243119326936","   Respiratory Tract Diseases"]
["C4275252","Familial spontaneous pneumothorax",280,8,"0.9728018405562604"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759","   Male Urogenital Diseases"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759","   Female Urogenital Diseases and Pregnancy Complications"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744","   Neoplasms"]
["C0043037","Common wart",233,8,"0.9921988893938744"]
["C0085694","Chronic cholecystitis",233,8,"0.9921988893938744"]
["C0747742","polyp benign",233,8,"0.9921988893938744"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744","   Neoplasms"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744","   Nutritional and Metabolic Diseases"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613","   Neoplasms"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613","   Nutritional and Metabolic Diseases"]
["C4049993","Aristolochic Acid Nephropathy",233,8,"0.9921988893938744"]
["C0153252","Systemic candidiasis",192,8,"0.505143674358917","   Infections"]
["C0269084","Vulvar Vestibulitis",192,8,"0.8612264497413841","   Female Urogenital Diseases and Pregnancy Complications"]
["C0746883","Febrile Neutropenia",192,8,"0.35346716001502215","   Hemic and Lymphatic Diseases"]
["C1320214","Invasive Streptococcus pneumoniae disease",192,8,"0.6468126028250947"]
["C1609535","Invasive Candidiasis",192,8,"0.8612264497413841","   Infections"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315","   Nutritional and Metabolic Diseases"]
["C3825879","Otitis media in children",192,8,"0.8612264497413841"]
["C3826128","Infection in children",192,8,"0.8612264497413841"]
["C0003081","Anisometropia",173,8,"0.8200369611986975","   Eye Diseases"]
["C0030517","Parathyroid Diseases",173,8,"0.7276449660258347","   Endocrine System Diseases"]
["C0040046","Thrombophlebitis",173,8,"0.0255402408450929","   Cardiovascular Diseases"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176","   Neoplasms"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975","   Neoplasms"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975","   Nervous System Diseases"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975","   Neoplasms"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975","   Nervous System Diseases"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","   Musculoskeletal Diseases"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","   Nervous System Diseases"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","   Pathological Conditions, Signs and Symptoms"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541","   Mental Disorders"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828","   Neoplasms"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828","   Musculoskeletal Diseases"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030343","Panuveitis",69,8,"0.9384923708493668","   Eye Diseases"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668","   Infections"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668","   Animal Diseases"]
["C0729552","Genital infection",69,8,"0.9384923708493668"]
["C1328252","Mucocutaneous leishmaniasis",69,8,"0.9328875046648023","   Skin and Connective Tissue Diseases"]
["C1609538","Latent Tuberculosis",69,8,"0.55470998528803","   Infections"]
["C2350875","Constrictive Bronchiolitis",69,8,"0.8134100440183278","   Respiratory Tract Diseases"]
["C2350876","Bronchiolitis, Exudative",69,8,"0.9384923708493668","   Respiratory Tract Diseases"]
["C2350988","Bronchiolitis, Proliferative",69,8,"0.9384923708493668","   Respiratory Tract Diseases"]
["C0206064","Microvascular Angina",20,8,"0.9317240164920229","   Cardiovascular Diseases"]
["C0242129","Thrombotic stroke",20,8,"0.9591944520707146"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146","   Nutritional and Metabolic Diseases"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519","   Hemic and Lymphatic Diseases"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856058","HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",20,8,"0.9591944520707146"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146","   Nervous System Diseases"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146","   Skin and Connective Tissue Diseases"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146","   Nutritional and Metabolic Diseases"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Musculoskeletal Diseases"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Nervous System Diseases"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Skin and Connective Tissue Diseases"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Nutritional and Metabolic Diseases"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Pathological Conditions, Signs and Symptoms"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","   Mental Disorders"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231","   Nutritional and Metabolic Diseases"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966","   Nervous System Diseases"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966","   Pathological Conditions, Signs and Symptoms"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728","   Nervous System Diseases"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728","   Pathological Conditions, Signs and Symptoms"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286","   Nervous System Diseases"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286","   Nutritional and Metabolic Diseases"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496","   Nervous System Diseases"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496","   Pathological Conditions, Signs and Symptoms"]
["C0742191","Cervical spinal cord atrophy",1906,7,"0.7729275698293496"]
["C1847416","FRIEDREICH ATAXIA WITH RETAINED REFLEXES",1906,7,"0.7729275698293496"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402","   Nervous System Diseases"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402","   Nutritional and Metabolic Diseases"]
["C3273225","Hereditary Neurodegenerative Disorder",1906,7,"0.595812236416077"]
["C4479491","LOPES-MACIEL-RODAN SYNDROME",1906,7,"-0.2961412440383463"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","   Nervous System Diseases"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","   Cardiovascular Diseases"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827","   Nervous System Diseases"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827","   Cardiovascular Diseases"]
["C0348447","Other specified diabetes mellitus",1721,7,"1.0"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","   Musculoskeletal Diseases"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","   Nutritional and Metabolic Diseases"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","   Endocrine System Diseases"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0","   Immune System Diseases"]
["C0473524","Postpancreatectomy hypoinsulinemia",1721,7,"1.0"]
["C2874124","Diabetes mellitus due to genetic defect in insulin action",1721,7,"1.0"]
["C2874125","Diabetes mellitus due to genetic defect in beta cell function",1721,7,"1.0"]
["C4290094","postprocedural diabetes mellitus",1721,7,"1.0"]
["C4290095","secondary diabetes mellitus NEC",1721,7,"1.0"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095","   Nervous System Diseases"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095","   Nutritional and Metabolic Diseases"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814","   Nervous System Diseases"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814","   Nutritional and Metabolic Diseases"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763","   Nervous System Diseases"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763","   Nutritional and Metabolic Diseases"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649","   Nervous System Diseases"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649","   Nutritional and Metabolic Diseases"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729","   Nervous System Diseases"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729","   Nutritional and Metabolic Diseases"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197","   Nervous System Diseases"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197","   Nutritional and Metabolic Diseases"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515","   Nervous System Diseases"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515","   Nutritional and Metabolic Diseases"]
["C1504405","Pyramidal tract dysfunction",1639,7,"0.6368796863267676"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005","   Musculoskeletal Diseases"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005","   Stomatognathic Diseases"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005","   Skin and Connective Tissue Diseases"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461","   Nervous System Diseases"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461","   Nervous System Diseases"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461","   Nervous System Diseases"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461","   Nutritional and Metabolic Diseases"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Nervous System Diseases"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Skin and Connective Tissue Diseases"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Endocrine System Diseases"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Pathological Conditions, Signs and Symptoms"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Behavior and Behavior Mechanisms"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412","   Mental Disorders"]
["C4013648","POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",1639,7,"0.7014987938469461"]
["C0270969","Zebra body myopathy",1568,7,"0.9874271886404451"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114","   Musculoskeletal Diseases"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114","   Nervous System Diseases"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451","   Musculoskeletal Diseases"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451","   Nervous System Diseases"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451","   Musculoskeletal Diseases"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451","   Nervous System Diseases"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451","   Musculoskeletal Diseases"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451","   Nervous System Diseases"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451","   Musculoskeletal Diseases"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451","   Nervous System Diseases"]
["C4225181","MYOPATHY, SCAPULOHUMEROPERONEAL",1568,7,"0.9874271886404451"]
["C0001621","Adrenal Gland Diseases",1517,7,"0.8524907839149616","   Endocrine System Diseases"]
["C0042131","Uterine Diseases",1517,7,"0.9744696903112824","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824","   Nervous System Diseases"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824","   Pathological Conditions, Signs and Symptoms"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","   Nervous System Diseases"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","   Pathological Conditions, Signs and Symptoms"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284","   Nervous System Diseases"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284","   Pathological Conditions, Signs and Symptoms"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824","   Nervous System Diseases"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824","   Pathological Conditions, Signs and Symptoms"]
["C1720816","Endometrial Diseases",1517,7,"0.9744696903112824","   Female Urogenital Diseases and Pregnancy Complications"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875","   Skin and Connective Tissue Diseases"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875","   Nutritional and Metabolic Diseases"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091","   Skin and Connective Tissue Diseases"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091","   Nutritional and Metabolic Diseases"]
["C0086648","MPS III B",1514,7,"0.7005171555200794","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086648","MPS III B",1514,7,"0.7005171555200794","   Skin and Connective Tissue Diseases"]
["C0086648","MPS III B",1514,7,"0.7005171555200794","   Nutritional and Metabolic Diseases"]
["C0086649","MPS III C",1514,7,"0.6829832180569418","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086649","MPS III C",1514,7,"0.6829832180569418","   Skin and Connective Tissue Diseases"]
["C0086649","MPS III C",1514,7,"0.6829832180569418","   Nutritional and Metabolic Diseases"]
["C0086650","MPS III D",1514,7,"0.6024101198885113","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086650","MPS III D",1514,7,"0.6024101198885113","   Skin and Connective Tissue Diseases"]
["C0086650","MPS III D",1514,7,"0.6024101198885113","   Nutritional and Metabolic Diseases"]
["C4225287","RETINITIS PIGMENTOSA 73",1514,7,"0.3445245033785194"]
["C4225306","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",1514,7,"0.2715014461574377"]
["C0220987","Hereditary orotic aciduria",1374,7,"0.7065315829061334"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504","   Nutritional and Metabolic Diseases"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321","   Hemic and Lymphatic Diseases"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3278622","OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA",1374,7,"0.7065315829061334"]
["C4021731","Pyrimidine-responsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4025287","Folate-unresponsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4225320","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",1374,7,"-0.18329244150023455"]
["C1833369","OROFACIAL CLEFT 3",1280,7,"0.9967601029660361"]
["C1835894","Orofacial Cleft 9",1280,7,"0.9967601029660361"]
["C1842143","Orofacial Cleft 4",1280,7,"0.9967601029660361"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126","   Musculoskeletal Diseases"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126","   Stomatognathic Diseases"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864323","OROFACIAL CLEFT 2",1280,7,"0.9967601029660361"]
["C2748505","Orofacial Cleft 12",1280,7,"0.9967601029660361"]
["C3151222","OROFACIAL CLEFT 13",1280,7,"0.9967601029660361"]
["C0454641","Expressive language delay",1249,7,"0.03949497349468351"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055","   Nervous System Diseases"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055","   Mental Disorders"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055","   Nervous System Diseases"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055","   Mental Disorders"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055","   Nervous System Diseases"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055","   Mental Disorders"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302","   Nervous System Diseases"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712","   Pathological Conditions, Signs and Symptoms"]
["C4225255","YUAN-HAREL-LUPSKI SYNDROME",1249,7,"0.8444506671680055"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158","   Nervous System Diseases"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252","   Nervous System Diseases"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383","   Nervous System Diseases"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892","   Nervous System Diseases"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359","   Nervous System Diseases"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886","   Nervous System Diseases"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937","   Nervous System Diseases"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063","   Digestive System Diseases"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385","   Digestive System Diseases"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832","   Digestive System Diseases"]
["C0156147","Crohn\\'s disease of large bowel",1029,7,"0.6170203836221173","   Digestive System Diseases"]
["C0267380","Crohn\\'s disease of the ileum",1029,7,"0.6547814613509333","   Digestive System Diseases"]
["C0678202","Regional enteritis",1029,7,"0.6591136699546444","   Digestive System Diseases"]
["C0949272","IIeocolitis",1029,7,"0.6545885072337488","   Digestive System Diseases"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","   Respiratory Tract Diseases"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","   Otorhinolaryngologic Diseases"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","   Nervous System Diseases"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","   Pathological Conditions, Signs and Symptoms"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721","   Nervous System Diseases"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901","   Nervous System Diseases"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721","   Nervous System Diseases"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843173","Charcot-Marie-Tooth disease, Type 2H",969,7,"0.8612066799351721"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577","   Nervous System Diseases"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721","   Nervous System Diseases"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393556","Complicated hereditary spastic paraplegia",963,7,"0.72249728201469"]
["C0521670","Cranial nerve compression",963,7,"-0.2237250598717857"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469","   Nervous System Diseases"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469","   Nervous System Diseases"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469","   Nutritional and Metabolic Diseases"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469","   Nervous System Diseases"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469","   Pathological Conditions, Signs and Symptoms"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469","   Behavior and Behavior Mechanisms"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469","   Mental Disorders"]
["C4021582","Distal peripheral sensory neuropathy",963,7,"0.6231008219355161"]
["C4225253","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",963,7,"0.72249728201469"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","   Nervous System Diseases"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","   Hemic and Lymphatic Diseases"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","   Nutritional and Metabolic Diseases"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","   Nervous System Diseases"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","   Hemic and Lymphatic Diseases"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","   Nutritional and Metabolic Diseases"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","   Nervous System Diseases"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","   Hemic and Lymphatic Diseases"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","   Nutritional and Metabolic Diseases"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","   Nervous System Diseases"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","   Hemic and Lymphatic Diseases"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008","   Nutritional and Metabolic Diseases"]
["C1843418","Niemann-Pick Disease, Type F",956,7,"0.9848973435834008"]
["C2675644","Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression",956,7,"0.9848973435834008"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","   Nervous System Diseases"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","   Hemic and Lymphatic Diseases"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008","   Nutritional and Metabolic Diseases"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754","   Nervous System Diseases"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754","   Chemically-Induced Disorders"]
["C0221271","Elastosis perforans serpiginosa",947,7,"0.17291487511306886","   Skin and Connective Tissue Diseases"]
["C0238421","Selenium deficiency",947,7,"-0.3067286723565978"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535","   Nervous System Diseases"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535","   Mental Disorders"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535","   Nervous System Diseases"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535","   Mental Disorders"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535","   Nervous System Diseases"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535","   Mental Disorders"]
["C2751067","Parkinsonism-Dystonia, Infantile",947,7,"0.1389614173800297","   Nervous System Diseases"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747","   Skin and Connective Tissue Diseases"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747","   Nutritional and Metabolic Diseases"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603","   Nervous System Diseases"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407","   Nervous System Diseases"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304","   Nervous System Diseases"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931642","Benign symmetrical lipomatosis",869,7,"0.8539929001192434"]
["C4025619","Peripheral axonal atrophy",869,7,"0.03204881303701446"]
["C4310725","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",869,7,"0.865759783759407"]
["C0157738","Chronic skin ulcer",799,7,"0.36881212157454607"]
["C0206141","Idiopathic Hypereosinophilic Syndrome",799,7,"0.8321346232469082","   Hemic and Lymphatic Diseases"]
["C0206143","Loeffler\\'s Endocarditis",799,7,"0.8309972982949037","   Hemic and Lymphatic Diseases"]
["C0263662","Disseminated eosinophilic collagen disease",799,7,"0.8417435364687668"]
["C0745091","Hypereosinophilia",799,7,"0.5766791817757657"]
["C1540912","Hypereosinophilic syndrome",799,7,"0.7655568201131454","   Hemic and Lymphatic Diseases"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814","   Neoplasms"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814","   Hemic and Lymphatic Diseases"]
["C0030590","Paroxysmal supraventricular tachycardia",768,7,"0.9428429931621836"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469","   Cardiovascular Diseases"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","   Cardiovascular Diseases"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0281788","Biventricular hypertrophy",768,7,"0.9428429931621836"]
["C0559106","Ventricular preexcitation",768,7,"0.9219172999954353"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836","   Cardiovascular Diseases"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836","   Cardiovascular Diseases"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836","   Nutritional and Metabolic Diseases"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914","   Nervous System Diseases"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914","   Immune System Diseases"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914","   Disorders of Environmental Origin"]
["C1389102","Atrophy of the spinal cord",751,7,"0.537869109296383"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Musculoskeletal Diseases"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Nervous System Diseases"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Eye Diseases"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Skin and Connective Tissue Diseases"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Endocrine System Diseases"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Pathological Conditions, Signs and Symptoms"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Behavior and Behavior Mechanisms"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914","   Mental Disorders"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677","   Nervous System Diseases"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914","   Nervous System Diseases"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914","   Eye Diseases"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914","   Endocrine System Diseases"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914","   Nervous System Diseases"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019191","Infectious Canine Hepatitis",738,7,"1.0"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0","   Nervous System Diseases"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0","   Eye Diseases"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0","   Musculoskeletal Diseases"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0","   Nervous System Diseases"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0","   Cardiovascular Diseases"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0","   Nervous System Diseases"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0","   Eye Diseases"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0","   Nervous System Diseases"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0","   Cardiovascular Diseases"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4013035","BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES",738,7,"1.0"]
["C4024975","Posterior leukoencephalopathy",738,7,"1.0"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705","   Musculoskeletal Diseases"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705","   Nervous System Diseases"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0264789","Familial cardiomyopathy",731,7,"0.8191388975682928"]
["C1834481","CARDIOMYOPATHY, DILATED, 1S",731,7,"0.7107729389438642","   Cardiovascular Diseases"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928","   Musculoskeletal Diseases"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928","   Nervous System Diseases"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928","   Musculoskeletal Diseases"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928","   Nervous System Diseases"]
["C3150690","LEFT VENTRICULAR NONCOMPACTION 5",731,7,"0.8191388975682928"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928"]
["C0019624","Histiocytosis, Non-Langerhans-Cell",563,7,"0.9997076812797654","   Hemic and Lymphatic Diseases"]
["C0878675","Erdheim-Chester Disease",563,7,"0.9982469751495253","   Hemic and Lymphatic Diseases"]
["C1275336","Hashimoto-Pritzker syndrome",563,7,"0.9997076812797654"]
["C1402291","Pigmented lesions",563,7,"0.9997076812797654"]
["C1562010","Langerhans cell histiocytosis of lung",563,7,"0.9997076812797654"]
["C3150970","NOONAN SYNDROME 7",563,7,"0.9997076812797654"]
["C3150971","LEOPARD SYNDROME 3",563,7,"0.9997076812797654"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","   Stomatognathic Diseases"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","   Nervous System Diseases"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","   Musculoskeletal Diseases"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","   Eye Diseases"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","   Male Urogenital Diseases"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","   Female Urogenital Diseases and Pregnancy Complications"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","   Musculoskeletal Diseases"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0281890","Laryngeal web",537,7,"0.5513991455619012"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361"]
["C4025208","Severe T-cell immunodeficiency",537,7,"0.4673363837780735"]
["C4540036","FRASER SYNDROME 2",537,7,"0.3853593638309096"]
["C0006848","Mucocutaneous candidiasis",524,7,"-0.07592702526490723"]
["C0032064","Plague",524,7,"0.6218490834498867","   Infections"]
["C0040561","Ocular Toxoplasmosis",524,7,"0.11717401218752989","   Eye Diseases"]
["C0343052","Guttate psoriasis",524,7,"-0.0854688567919862"]
["C0406317","Chronic small plaque psoriasis",524,7,"0.5041323683753064"]
["C1262117","Fungal keratitis",524,7,"0.6218490834498867"]
["C1609432","manifestations of immunopathology",524,7,"0.6218490834498867"]
["C0002438","Amebiasis",475,7,"0.7036637071355158"]
["C0013370","Amebic colitis",475,7,"0.7036637071355158","   Digestive System Diseases"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","   Nervous System Diseases"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","   Endocrine System Diseases"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851","   Digestive System Diseases"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851","   Pathological Conditions, Signs and Symptoms"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158","   Nervous System Diseases"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158","   Endocrine System Diseases"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158","   Nervous System Diseases"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158","   Endocrine System Diseases"]
["C3554225","LEPTIN RECEPTOR DEFICIENCY",475,7,"0.7126397460079514"]
["C0001916","Albinism",394,7,"0.08659321546951285","   Eye Diseases"]
["C0001916","Albinism",394,7,"0.08659321546951285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0001916","Albinism",394,7,"0.08659321546951285","   Skin and Connective Tissue Diseases"]
["C0001916","Albinism",394,7,"0.08659321546951285","   Nutritional and Metabolic Diseases"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954","   Eye Diseases"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954","   Skin and Connective Tissue Diseases"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954","   Nutritional and Metabolic Diseases"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","   Eye Diseases"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","   Skin and Connective Tissue Diseases"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","   Nutritional and Metabolic Diseases"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088","   Eye Diseases"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088","   Skin and Connective Tissue Diseases"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088","   Nutritional and Metabolic Diseases"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417","   Eye Diseases"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417","   Skin and Connective Tissue Diseases"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417","   Nutritional and Metabolic Diseases"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933","   Eye Diseases"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933","   Skin and Connective Tissue Diseases"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933","   Nutritional and Metabolic Diseases"]
["C3888401","ALBINISM, OCULOCUTANEOUS, TYPE V",394,7,"0.6377678052519968"]
["C0014548","Epilepsy, Generalized",326,7,"0.6191113348262938","   Nervous System Diseases"]
["C0017332","Generalized Nonconvulsive Seizure Disorder",326,7,"0.9484384670829212","   Nervous System Diseases"]
["C0086236","Epilepsy, Atonic",326,7,"0.9484384670829212","   Nervous System Diseases"]
["C0086241","Epilepsy, Tonic",326,7,"0.9484384670829212","   Nervous System Diseases"]
["C0270854","Symptomatic Generalized Epilepsy",326,7,"0.9479388859098604","   Nervous System Diseases"]
["C0311334","Generalized convulsive epilepsy",326,7,"0.9484384670829212","   Nervous System Diseases"]
["C0347869","Epilepsy, Akinetic",326,7,"0.9484384670829212","   Nervous System Diseases"]
["C0348617","Other cardiomyopathies",240,7,"0.06765223003863212"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182","   Skin and Connective Tissue Diseases"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182","   Cardiovascular Diseases"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182","   Skin and Connective Tissue Diseases"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182","   Cardiovascular Diseases"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182","   Skin and Connective Tissue Diseases"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021","   Skin and Connective Tissue Diseases"]
["C4014393","CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",240,7,"0.8644666438091182"]
["C0085084","Motor Neuron Disease",181,7,"0.3621454154929846","   Nervous System Diseases"]
["C0154681","Anterior Horn Cell Disease",181,7,"0.8434165605709408","   Nervous System Diseases"]
["C0154682","Lateral Sclerosis",181,7,"0.7355465095145428","   Nervous System Diseases"]
["C0270763","Familial Motor Neuron Disease",181,7,"0.8621489647310797","   Nervous System Diseases"]
["C0270764","Motor Neuron Disease, Lower",181,7,"0.8626323328967057","   Nervous System Diseases"]
["C0521659","Motor Neuron Disease, Upper",181,7,"0.8621489647310797","   Nervous System Diseases"]
["C0543858","Motor Neuron Disease, Secondary",181,7,"0.8621489647310797","   Nervous System Diseases"]
["C0033999","Pterygium",178,7,"0.624708766534821","   Eye Diseases"]
["C0042749","Viremia",178,7,"0.7067899325459075","   Pathological Conditions, Signs and Symptoms"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164","   Nervous System Diseases"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164","   Eye Diseases"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164","   Cardiovascular Diseases"]
["C0206608","Flavivirus Infections",178,7,"0.8433191715886285"]
["C0524911","Hepatitis D, Chronic",178,7,"0.8433191715886285","   Digestive System Diseases"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Nervous System Diseases"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Eye Diseases"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Cardiovascular Diseases"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Nervous System Diseases"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Eye Diseases"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285","   Cardiovascular Diseases"]
["C0398641","Epstein syndrome (disorder)",137,7,"0.9995844678655483"]
["C0403445","Fechtner syndrome (disorder)",137,7,"0.9995844678655483"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483","   Otorhinolaryngologic Diseases"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483","   Nervous System Diseases"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483","   Hemic and Lymphatic Diseases"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483","   Pathological Conditions, Signs and Symptoms"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996","   Otorhinolaryngologic Diseases"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996","   Nervous System Diseases"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996","   Hemic and Lymphatic Diseases"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996","   Pathological Conditions, Signs and Symptoms"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483","   Otorhinolaryngologic Diseases"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483","   Nervous System Diseases"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483","   Eye Diseases"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483","   Pathological Conditions, Signs and Symptoms"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483","   Otorhinolaryngologic Diseases"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483","   Nervous System Diseases"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483","   Hemic and Lymphatic Diseases"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483","   Pathological Conditions, Signs and Symptoms"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483","   Otorhinolaryngologic Diseases"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483","   Nervous System Diseases"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483","   Pathological Conditions, Signs and Symptoms"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726","   Musculoskeletal Diseases"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726","   Skin and Connective Tissue Diseases"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726","   Immune System Diseases"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636","   Infections"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636","   Digestive System Diseases"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636","   Nutritional and Metabolic Diseases"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003","   Musculoskeletal Diseases"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003","   Skin and Connective Tissue Diseases"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639","   Hemic and Lymphatic Diseases"]
["C0340164","Lofgrens syndrome",104,7,"0.5970996544082956"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639","   Skin and Connective Tissue Diseases"]
["C1304469","Localized vitiligo",104,7,"0.8822638238711639"]
["C0041105","Trismus",46,7,"0.5031468258950399","   Nervous System Diseases"]
["C0041105","Trismus",46,7,"0.5031468258950399","   Pathological Conditions, Signs and Symptoms"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823","   Respiratory Tract Diseases"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823","   Nutritional and Metabolic Diseases"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823","   Pathological Conditions, Signs and Symptoms"]
["C0520758","Prolonged neuromuscular block",46,7,"0.8807519467495823"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382","   Respiratory Tract Diseases"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382","   Nutritional and Metabolic Diseases"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382","   Pathological Conditions, Signs and Symptoms"]
["C1867467","Acholinesterasemia",46,7,"0.8807519467495823"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823","   Nutritional and Metabolic Diseases"]
["C1867470","Hypocholinesterasemia, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599","   Musculoskeletal Diseases"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175","   Male Urogenital Diseases"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175","   Skin and Connective Tissue Diseases"]
["C0235989","Renal interstitial fibrosis",8,7,"0.8435672662936633"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027","   Digestive System Diseases"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027","   Pathological Conditions, Signs and Symptoms"]
["C0878576","Posterior Leukoencephalopathy Syndrome",8,7,"0.9264770333850133","   Nervous System Diseases"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133","   Digestive System Diseases"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133","   Pathological Conditions, Signs and Symptoms"]
["C3160858","Posterior reversible encephalopathy syndrome",8,7,"0.9264770333850133","   Nervous System Diseases"]
["C0270765","Myelopathic Muscular Atrophy",3,7,"0.89837165731556","   Nervous System Diseases"]
["C0393541","Distal Spinal Muscular Atrophy",3,7,"0.7938015520840968","   Nervous System Diseases"]
["C0393546","Oculopharyngeal Spinal Muscular Atrophy",3,7,"0.89837165731556","   Nervous System Diseases"]
["C0751334","Progressive Proximal Myelopathic Muscular Atrophy",3,7,"0.89837165731556","   Nervous System Diseases"]
["C0751335","Scapuloperoneal Form of Spinal Muscular Atrophy",3,7,"0.23472395381758301","   Nervous System Diseases"]
["C0917981","Progressive Muscular Atrophy",3,7,"0.8391124368502302","   Nervous System Diseases"]
["C3661519","Hereditary Motor Neuronopathy",3,7,"0.89837165731556","   Nervous System Diseases"]
["C0032371","Poliomyelitis",2192,6,"1.0","   Nervous System Diseases"]
["C0555971","Oral infection",2192,6,"1.0"]
["C0751445","Encephalitis, Polio",2192,6,"1.0","   Nervous System Diseases"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0","   Nervous System Diseases"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0","   Nervous System Diseases"]
["C1527258","Infantile paralysis",2192,6,"1.0","   Nervous System Diseases"]
["C0007862","Cervico-Brachial Neuralgia",2138,6,"0.999916502869803","   Nervous System Diseases"]
["C0085920","Brachial Neuralgia",2138,6,"0.999916502869803","   Nervous System Diseases"]
["C0221759","Brachial Plexus Neuritis",2138,6,"0.999916502869803","   Nervous System Diseases"]
["C0700251","Brachial Plexus Neuropathies",2138,6,"0.999916502869803","   Nervous System Diseases"]
["C1510479","Neuralgic Amyotrophy",2138,6,"0.999916502869803","   Nervous System Diseases"]
["C1834304","AMYOTROPHY, HEREDITARY NEURALGIC",2138,6,"0.9995804126684312","   Nervous System Diseases"]
["C0013447","Ear Diseases",2068,6,"0.9975842949713284","   Otorhinolaryngologic Diseases"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693","   Musculoskeletal Diseases"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693","   Musculoskeletal Diseases"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693","   Musculoskeletal Diseases"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693","   Musculoskeletal Diseases"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693","   Endocrine System Diseases"]
["C4023720","Cystic lesions of the pinnae",2068,6,"0.9995167617141693"]
["C1843807","Basal ganglia disease, biotin-responsive",1880,6,"0.09961392733652241","   Nervous System Diseases"]
["C1851915","Abnormal facial muscle tone",1880,6,"0.6973555473280061"]
["C4023011","Craniofacial dystonia",1880,6,"0.6973555473280061"]
["C4072883","Abnormal craniofacial posture",1880,6,"0.6973555473280061"]
["C4310634","DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",1880,6,"0.24201927626570696"]
["C4310743","STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",1880,6,"0.2752157980350304"]
["C0023009","Speech and language disorder",1869,6,"0.3117899244885336"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795","   Nervous System Diseases"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795","   Pathological Conditions, Signs and Symptoms"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795","   Behavior and Behavior Mechanisms"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036","   Nervous System Diseases"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036","   Pathological Conditions, Signs and Symptoms"]
["C3281084","Congenital disorder of glycosylation type 1r",1869,6,"-0.1604413123167158"]
["C4021845","Oromotor apraxia",1869,6,"0.3874830477702107"]
["C4310833","INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN",1869,6,"0.11609787534550929"]
["C0206750","Coronavirus Infections",1846,6,"0.7293398185397326"]
["C0282687","Hemorrhagic Fever, Ebola",1846,6,"0.16044861831789892"]
["C0702135","Primary atypical pneumonia",1846,6,"0.8167081241366331"]
["C1412002","Atypical pneumonia",1846,6,"0.8167081241366331"]
["C3694279","Middle East Respiratory Syndrome",1846,6,"0.5768900183603317"]
["C4540188","NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",1846,6,"0.8167081241366331"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997","   Nervous System Diseases"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997","   Pathological Conditions, Signs and Symptoms"]
["C0151604","Genital edema",1819,6,"0.738826503950998"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064","   Female Urogenital Diseases and Pregnancy Complications"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064","   Hemic and Lymphatic Diseases"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064","   Immune System Diseases"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064","   Pathological Conditions, Signs and Symptoms"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Female Urogenital Diseases and Pregnancy Complications"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Hemic and Lymphatic Diseases"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Nutritional and Metabolic Diseases"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Immune System Diseases"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998","   Pathological Conditions, Signs and Symptoms"]
["C4025182","Exercise-induced hemolysis",1819,6,"0.738826503950998"]
["C4225184","LYMPHEDEMA, HEREDITARY, III",1819,6,"0.738826503950998"]
["C4225242","DEHYDRATED HEREDITARY STOMATOCYTOSIS 2",1819,6,"-0.03416240762849514"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982","   Male Urogenital Diseases"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982","   Female Urogenital Diseases and Pregnancy Complications"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","   Nervous System Diseases"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","   Eye Diseases"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","   Male Urogenital Diseases"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","   Female Urogenital Diseases and Pregnancy Complications"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","   Nervous System Diseases"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","   Eye Diseases"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","   Male Urogenital Diseases"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2939174","Medullary cystic disease",1609,6,"0.45796531755379355"]
["C3150877","SENIOR-LOKEN SYNDROME 7",1609,6,"0.5749325326275226"]
["C3889474","BARDET-BIEDL SYNDROME 16",1609,6,"-0.15177959363882892"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0","   Male Urogenital Diseases"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0","   Nutritional and Metabolic Diseases"]
["C2749685","CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)",1567,6,"1.0"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0","   Nutritional and Metabolic Diseases"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0","   Nutritional and Metabolic Diseases"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0","   Nutritional and Metabolic Diseases"]
["C4316899","Cystinosis",1567,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4316899","Cystinosis",1567,6,"1.0","   Nutritional and Metabolic Diseases"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","   Nervous System Diseases"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","   Nutritional and Metabolic Diseases"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383","   Nervous System Diseases"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383","   Nutritional and Metabolic Diseases"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383","   Nervous System Diseases"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383","   Nutritional and Metabolic Diseases"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383","   Nervous System Diseases"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383","   Nutritional and Metabolic Diseases"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383","   Nervous System Diseases"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383","   Nutritional and Metabolic Diseases"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383","   Nervous System Diseases"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383","   Nutritional and Metabolic Diseases"]
["C0010823","Cytomegalovirus Infections",1534,6,"0.6755742786632634"]
["C0026918","Mycobacterium Infections",1534,6,"0.7287136674355542","   Infections"]
["C0340639","Carotid artery aneurysm",1534,6,"0.8878052037818089"]
["C3151088","IMMUNODEFICIENCY 31B",1534,6,"0.8786081321831024"]
["C3279990","CANDIDIASIS, FAMILIAL, 7",1534,6,"0.8878052037818089"]
["C4013950","IMMUNODEFICIENCY 31A",1534,6,"0.8878052037818089"]
["C0154209","Hyperestrogenism",1516,6,"0.9920146521832814"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814","   Male Urogenital Diseases"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814","   Female Urogenital Diseases and Pregnancy Complications"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814","   Endocrine System Diseases"]
["C0853662","Oestrogen deficiency",1516,6,"0.9706426284991281"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814","   Male Urogenital Diseases"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814","   Female Urogenital Diseases and Pregnancy Complications"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814","   Endocrine System Diseases"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Male Urogenital Diseases"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Female Urogenital Diseases and Pregnancy Complications"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Skin and Connective Tissue Diseases"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Nutritional and Metabolic Diseases"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035","   Endocrine System Diseases"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Male Urogenital Diseases"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Female Urogenital Diseases and Pregnancy Complications"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Skin and Connective Tissue Diseases"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Nutritional and Metabolic Diseases"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814","   Endocrine System Diseases"]
["C1838780","Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease",1487,6,"1.0"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Nervous System Diseases"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Male Urogenital Diseases"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Cardiovascular Diseases"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Nutritional and Metabolic Diseases"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Endocrine System Diseases"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Behavior and Behavior Mechanisms"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0","   Mental Disorders"]
["C3280939","ATRIOVENTRICULAR SEPTAL DEFECT 5",1487,6,"1.0"]
["C3280943","ATRIAL SEPTAL DEFECT 9",1487,6,"1.0"]
["C3888085","PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",1487,6,"1.0"]
["C4012454","HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",1487,6,"1.0"]
["C0154822","Serous retinal detachment",1473,6,"0.28080632735466743"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","   Musculoskeletal Diseases"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","   Nervous System Diseases"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489","   Musculoskeletal Diseases"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489","   Nervous System Diseases"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317","   Musculoskeletal Diseases"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317","   Nervous System Diseases"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605","   Respiratory Tract Diseases"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605","   Otorhinolaryngologic Diseases"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605","   Eye Diseases"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280205","RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",1473,6,"0.13086365991194404"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904","   Stomatognathic Diseases"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527284","Dental Pulp Stone",1447,6,"0.929948550601483","   Stomatognathic Diseases"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904","   Stomatognathic Diseases"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904","   Otorhinolaryngologic Diseases"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904","   Nervous System Diseases"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904","   Pathological Conditions, Signs and Symptoms"]
["C2750327","Hearing loss, sensorineural (high frequency)",1447,6,"0.9853361620923904"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904","   Stomatognathic Diseases"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904","   Stomatognathic Diseases"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268559","Hyperglycinemia",1355,6,"0.2512969663981975"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886","   Nervous System Diseases"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886","   Nutritional and Metabolic Diseases"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285","   Nervous System Diseases"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285","   Nutritional and Metabolic Diseases"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285","   Nervous System Diseases"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285","   Nutritional and Metabolic Diseases"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285","   Nervous System Diseases"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285","   Nutritional and Metabolic Diseases"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","   Nervous System Diseases"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","   Nutritional and Metabolic Diseases"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762","   Nervous System Diseases"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762","   Cardiovascular Diseases"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914","   Nervous System Diseases"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914","   Cardiovascular Diseases"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914","   Nervous System Diseases"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914","   Cardiovascular Diseases"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","   Nervous System Diseases"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","   Cardiovascular Diseases"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914","   Nervous System Diseases"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914","   Cardiovascular Diseases"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","   Nervous System Diseases"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914","   Cardiovascular Diseases"]
["C0001890","Akinetic Petit Mal",1326,6,"0.8258188499216335","   Nervous System Diseases"]
["C0014553","Absence Epilepsy",1326,6,"0.6375263018664784","   Nervous System Diseases"]
["C0751124","Epilepsy, Absence, Atypical",1326,6,"0.8258188499216335","   Nervous System Diseases"]
["C1838604","EPILEPSY, CHILDHOOD ABSENCE, 1",1326,6,"0.2716756322258953"]
["C4281785","Childhood Absence Epilepsy",1326,6,"0.8269372775744822","   Nervous System Diseases"]
["C4317339","Juvenile Absence Epilepsy",1326,6,"0.8258188499216335","   Nervous System Diseases"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313","   Neoplasms"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313","   Skin and Connective Tissue Diseases"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313","   Nutritional and Metabolic Diseases"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Musculoskeletal Diseases"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Nervous System Diseases"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Eye Diseases"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Pathological Conditions, Signs and Symptoms"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Behavior and Behavior Mechanisms"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496","   Mental Disorders"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659","   Skin and Connective Tissue Diseases"]
["C1866505","Ichthyosis, Congenital, with Trichothiodystrophy",1293,6,"0.7387805067133496"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558","   Skin and Connective Tissue Diseases"]
["C4024961","Metachromatic leukodystrophy variant",1293,6,"0.7387805067133496"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501","   Nutritional and Metabolic Diseases"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093","   Nutritional and Metabolic Diseases"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093","   Nutritional and Metabolic Diseases"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093","   Nutritional and Metabolic Diseases"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093","   Stomatognathic Diseases"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093","   Nutritional and Metabolic Diseases"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093","   Nutritional and Metabolic Diseases"]
["C0238304","Chronic interstitial nephritis",1221,6,"0.5079926130781431"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736","   Male Urogenital Diseases"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736","   Female Urogenital Diseases and Pregnancy Complications"]
["C3280598","SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",1221,6,"0.6435137564077629"]
["C3280612","NEPHRONOPHTHISIS 13",1221,6,"0.6435137564077629"]
["C3280616","CRANIOECTODERMAL DYSPLASIA 4",1221,6,"0.4321476416969241"]
["C4225376","SENIOR-LOKEN SYNDROME 8",1221,6,"0.6435137564077629"]
["C0741916","Cardiac defects",1211,6,"0.1695060358123374"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421","   Cardiovascular Diseases"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931638","Chromosome 8, monosomy 8p23 1",1211,6,"0.8020305089104421","   Pathological Conditions, Signs and Symptoms"]
["C3280777","VENTRICULAR SEPTAL DEFECT 1",1211,6,"0.8020305089104421"]
["C3280781","ATRIOVENTRICULAR SEPTAL DEFECT 4",1211,6,"0.8020305089104421"]
["C3809858","TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE",1211,6,"0.8020305089104421"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637","   Cardiovascular Diseases"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497","   Musculoskeletal Diseases"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497","   Endocrine System Diseases"]
["C3276096","ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS",1207,6,"0.7703110005684497"]
["C3280785","VENTRICULAR SEPTAL DEFECT 3",1207,6,"0.7703110005684497"]
["C3280795","HYPOPLASTIC LEFT HEART SYNDROME 2",1207,6,"0.602452932946423"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497","   Cardiovascular Diseases"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497","   Pathological Conditions, Signs and Symptoms"]
["C0156259","Hypertrophy of kidney",1198,6,"0.9755319573696319"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319","   Musculoskeletal Diseases"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319","   Nervous System Diseases"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319","   Pathological Conditions, Signs and Symptoms"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Digestive System Diseases"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Nervous System Diseases"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Eye Diseases"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Nutritional and Metabolic Diseases"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Pathological Conditions, Signs and Symptoms"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Behavior and Behavior Mechanisms"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319","   Mental Disorders"]
["C1842534","DYSTONIA 18 (disorder)",1198,6,"0.8296927339960722","   Nervous System Diseases"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319","   Nutritional and Metabolic Diseases"]
["C3149117","GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",1198,6,"0.9755319573696319"]
["C0342482","X-linked Adrenal Hypoplasia",1180,6,"0.458298165746049","   Endocrine System Diseases"]
["C0795887","Complex Glycerol Kinase Deficiency",1180,6,"0.8097284676200114","   Endocrine System Diseases"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095","   Male Urogenital Diseases"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095","   Female Urogenital Diseases and Pregnancy Complications"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095","   Endocrine System Diseases"]
["C1868690","Hypoadrenocorticism, familial",1180,6,"0.780931783419923","   Endocrine System Diseases"]
["C3887896","Primary Adrenal Insufficiency",1180,6,"0.626300617743963"]
["C4505291","Xp21 Contiguous Gene Deletion Syndrome",1180,6,"0.8097284676200114","   Endocrine System Diseases"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597","   Musculoskeletal Diseases"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597","   Nervous System Diseases"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","   Musculoskeletal Diseases"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","   Male Urogenital Diseases"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","   Female Urogenital Diseases and Pregnancy Complications"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277","   Endocrine System Diseases"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668","   Musculoskeletal Diseases"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277","   Musculoskeletal Diseases"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3549544","ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C4225331","46,XY SEX REVERSAL 10",1175,6,"0.967585231757277"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555","   Musculoskeletal Diseases"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0949690","Spondylarthritis",1173,6,"0.7980260053315987","   Musculoskeletal Diseases"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567","   Musculoskeletal Diseases"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567","   Pathological Conditions, Signs and Symptoms"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567","   Musculoskeletal Diseases"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567","   Stomatognathic Diseases"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567","   Musculoskeletal Diseases"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3549874","METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY",1173,6,"0.9586769150749567"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227","   Male Urogenital Diseases"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227","   Nutritional and Metabolic Diseases"]
["C0268121","APRT deficiency, Japanese type",1166,6,"0.7256790722110227"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535","   Male Urogenital Diseases"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535","   Female Urogenital Diseases and Pregnancy Complications"]
["C1291390","Deficiency of phosphorylase kinase",1166,6,"0.7256790722110227"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299","   Male Urogenital Diseases"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299","   Female Urogenital Diseases and Pregnancy Complications"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227","   Male Urogenital Diseases"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227","   Female Urogenital Diseases and Pregnancy Complications"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227","   Nutritional and Metabolic Diseases"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713","   Digestive System Diseases"]
["C0238062","Chronic intestinal pseudo-obstruction",1125,6,"0.8851738954991655"]
["C0266833","Visceral Myopathy, Familial",1125,6,"0.8851738954991655","   Digestive System Diseases"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772","   Digestive System Diseases"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835084","Megaduodenum and-or Megacystis",1125,6,"0.8823397396478201","   Digestive System Diseases"]
["C1864996","Visceral Neuropathy, Familial, Autosomal Dominant",1125,6,"0.8851738954991655","   Digestive System Diseases"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143","   Nervous System Diseases"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143","   Cardiovascular Diseases"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","   Nervous System Diseases"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","   Cardiovascular Diseases"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","   Nervous System Diseases"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","   Cardiovascular Diseases"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143","   Nervous System Diseases"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143","   Cardiovascular Diseases"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143","   Nervous System Diseases"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143","   Cardiovascular Diseases"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855","   Nervous System Diseases"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855","   Cardiovascular Diseases"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0","   Nervous System Diseases"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0","   Mental Disorders"]
["C0033139","Primary Insomnia",1098,6,"1.0","   Nervous System Diseases"]
["C0033139","Primary Insomnia",1098,6,"1.0","   Mental Disorders"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0","   Nervous System Diseases"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0","   Mental Disorders"]
["C0751249","Chronic Insomnia",1098,6,"1.0","   Nervous System Diseases"]
["C0751249","Chronic Insomnia",1098,6,"1.0","   Mental Disorders"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0","   Nervous System Diseases"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0","   Mental Disorders"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0","   Nervous System Diseases"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0","   Mental Disorders"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577","   Male Urogenital Diseases"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233","   Male Urogenital Diseases"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233","   Female Urogenital Diseases and Pregnancy Complications"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531","   Male Urogenital Diseases"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531","   Female Urogenital Diseases and Pregnancy Complications"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005","   Male Urogenital Diseases"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005","   Female Urogenital Diseases and Pregnancy Complications"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558","   Male Urogenital Diseases"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558","   Female Urogenital Diseases and Pregnancy Complications"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233","   Male Urogenital Diseases"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233","   Female Urogenital Diseases and Pregnancy Complications"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928","   Nervous System Diseases"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936","   Nervous System Diseases"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0877017","Generalized tonic-clonic seizures with focal onset",1040,6,"0.24941196879596317"]
["C1850764","EPILEPSY, PROGRESSIVE MYOCLONIC 2B",1040,6,"0.8496640535115283","   Nervous System Diseases"]
["C1850765","Visual auras",1040,6,"0.8592873956258936"]
["C4317153","Simple partial occipital seizures",1040,6,"0.8592873956258936"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","   Neoplasms"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","   Skin and Connective Tissue Diseases"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","   Immune System Diseases"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887"]
["C1275345","Familial mastocytosis",1027,6,"0.7060233065158887"]
["C1837203","WAARDENBURG SYNDROME, TYPE IID",1027,6,"0.08207467360116744","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024848","Absent pigmentation of the ventral chest",1027,6,"0.6806030340524898"]
["C4509020","Isolated bone marrow mastocytosis",1027,6,"0.7060233065158887"]
["C0544008","Chandler syndrome",958,6,"0.6827524243787404","   Eye Diseases"]
["C1611195","Congenital corneal dystrophy",958,6,"0.6297921518794525"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624","   Eye Diseases"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692","   Otorhinolaryngologic Diseases"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692","   Nervous System Diseases"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692","   Eye Diseases"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692","   Pathological Conditions, Signs and Symptoms"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412","   Eye Diseases"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502","   Eye Diseases"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028850","Ocular Motility Disorders",944,6,"1.0","   Nervous System Diseases"]
["C0028850","Ocular Motility Disorders",944,6,"1.0","   Eye Diseases"]
["C1836217","Tukel syndrome",944,6,"1.0","   Musculoskeletal Diseases"]
["C1836217","Tukel syndrome",944,6,"1.0","   Nervous System Diseases"]
["C1836217","Tukel syndrome",944,6,"1.0","   Eye Diseases"]
["C1836217","Tukel syndrome",944,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836217","Tukel syndrome",944,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0","   Nervous System Diseases"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0","   Eye Diseases"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0","   Nervous System Diseases"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0","   Eye Diseases"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3808397","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",944,6,"1.0"]
["C4024789","Nonprogressive restrictive external ophthalmoplegia",944,6,"1.0"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112","   Infections"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112","   Nervous System Diseases"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251","   Infections"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251","   Nervous System Diseases"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251","   Infections"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251","   Nervous System Diseases"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251","   Infections"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251","   Nervous System Diseases"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251","   Infections"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251","   Nervous System Diseases"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251","   Infections"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251","   Nervous System Diseases"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741","   Musculoskeletal Diseases"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404","   Musculoskeletal Diseases"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413","   Musculoskeletal Diseases"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583","   Musculoskeletal Diseases"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583","   Skin and Connective Tissue Diseases"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269","   Musculoskeletal Diseases"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2910340","Asphyxiating thoracic dysplasia [Jeune]",936,6,"0.09035794376709302"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152","   Musculoskeletal Diseases"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152","   Nervous System Diseases"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152","   Eye Diseases"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152","   Nutritional and Metabolic Diseases"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499","   Nervous System Diseases"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499","   Nutritional and Metabolic Diseases"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499","   Pathological Conditions, Signs and Symptoms"]
["C1839022","Striatonigral Degeneration, Infantile, Mitochondrial",926,6,"0.9495225248828499","   Nervous System Diseases"]
["C3275684","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",926,6,"0.9495225248828499"]
["C4225415","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",926,6,"0.7476245432308887"]
["C4225591","MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)",926,6,"0.9495225248828499"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757","   Nervous System Diseases"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757","   Nutritional and Metabolic Diseases"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115","   Nervous System Diseases"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115","   Nutritional and Metabolic Diseases"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066","   Nervous System Diseases"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066","   Nutritional and Metabolic Diseases"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443","   Nervous System Diseases"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443","   Nutritional and Metabolic Diseases"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115","   Nervous System Diseases"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115","   Nutritional and Metabolic Diseases"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115","   Nervous System Diseases"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115","   Nutritional and Metabolic Diseases"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147","   Musculoskeletal Diseases"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643","   Neoplasms"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643","   Musculoskeletal Diseases"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643","   Nervous System Diseases"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247","   Musculoskeletal Diseases"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247","   Musculoskeletal Diseases"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103","   Musculoskeletal Diseases"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247","   Musculoskeletal Diseases"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944","   Nervous System Diseases"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235","   Nervous System Diseases"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235","   Nervous System Diseases"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235","   Nervous System Diseases"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235","   Nervous System Diseases"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866751","Spinocerebellar tract degeneration",830,6,"0.14732935719479365"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0","   Nervous System Diseases"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0","   Nutritional and Metabolic Diseases"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0","   Nervous System Diseases"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0","   Nutritional and Metabolic Diseases"]
["C1856491","Gaucher Disease, Type IIIa",825,6,"1.0"]
["C1856492","Gaucher Disease, Type IIIb",825,6,"1.0"]
["C1856493","Gaucher Disease, Norrbottnian Type",825,6,"1.0"]
["C2931585","Gaucher-like disease",825,6,"1.0","   Nervous System Diseases"]
["C2931585","Gaucher-like disease",825,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931585","Gaucher-like disease",825,6,"1.0","   Nutritional and Metabolic Diseases"]
["C0398621","Hypoplasminogenemia",806,6,"1.0","   Hemic and Lymphatic Diseases"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0","   Eye Diseases"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0","   Skin and Connective Tissue Diseases"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0","   Eye Diseases"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0","   Skin and Connective Tissue Diseases"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0"]
["C4225445","PLASMINOGEN DEFICIENCY, TYPE II",806,6,"1.0"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644","   Musculoskeletal Diseases"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644","   Nervous System Diseases"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531","   Musculoskeletal Diseases"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531","   Nervous System Diseases"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938","   Musculoskeletal Diseases"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938","   Nervous System Diseases"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1828221","Non dystrophic myotonia",774,6,"0.5916309905416627"]
["C1959600","Obscure African cardiomyopathy",774,6,"0.86557682095558"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425","   Musculoskeletal Diseases"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425","   Nervous System Diseases"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957","   Nutritional and Metabolic Diseases"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957","   Endocrine System Diseases"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","   Skin and Connective Tissue Diseases"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","   Nutritional and Metabolic Diseases"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398","   Skin and Connective Tissue Diseases"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398","   Nutritional and Metabolic Diseases"]
["C0494360","Lipodystrophy, not elsewhere classified",746,6,"0.3287782726532428"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444","   Skin and Connective Tissue Diseases"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444","   Nutritional and Metabolic Diseases"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944","   Nervous System Diseases"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833308","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V",745,6,"-0.5162988033870547","   Nervous System Diseases"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003","   Nervous System Diseases"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608087","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB",745,6,"0.36126552597097733","   Nervous System Diseases"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678"]
["C4021578","Chronic axonal neuropathy",745,6,"0.16708847183798495"]
["C0432418","Trisomy 21- mitotic nondisjunction mosaicism",724,6,"1.0"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0","   Hemic and Lymphatic Diseases"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0","   Hemic and Lymphatic Diseases"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0","   Nervous System Diseases"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0","   Hemic and Lymphatic Diseases"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3550789","THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",724,6,"1.0"]
["C3550856","ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",724,6,"1.0"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492","   Musculoskeletal Diseases"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492","   Nervous System Diseases"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702","   Musculoskeletal Diseases"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702","   Nervous System Diseases"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696","   Musculoskeletal Diseases"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696","   Nervous System Diseases"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116","   Musculoskeletal Diseases"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116","   Nervous System Diseases"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498","   Musculoskeletal Diseases"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498","   Nervous System Diseases"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108","   Musculoskeletal Diseases"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108","   Nervous System Diseases"]
["C0025637","Methemoglobinemia",658,6,"0.35530870263789033","   Hemic and Lymphatic Diseases"]
["C0272087","Congenital Methemoglobinemia",658,6,"0.7408610909015111","   Hemic and Lymphatic Diseases"]
["C2749559","Methemoglobinemia, Type I",658,6,"0.8600842424357462","   Hemic and Lymphatic Diseases"]
["C2749560","Methemoglobinemia, Type Ii",658,6,"0.8600842424357462","   Hemic and Lymphatic Diseases"]
["C2749561","Nadh-Cytochrome B5 Reductase Deficiency, Type I",658,6,"0.8600842424357462","   Hemic and Lymphatic Diseases"]
["C2749562","Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",658,6,"0.8600842424357462","   Hemic and Lymphatic Diseases"]
["C0409896","Familial chondrocalcinosis",605,6,"0.8107807238763005"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","   Musculoskeletal Diseases"]
["C0856830","Calcium pyrophosphate arthropathy",605,6,"0.8107807238763005","   Musculoskeletal Diseases"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214","   Musculoskeletal Diseases"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214","   Stomatognathic Diseases"]
["C3279807","CRANIOECTODERMAL DYSPLASIA 3",605,6,"0.7028732630561377"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Nervous System Diseases"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Male Urogenital Diseases"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Female Urogenital Diseases and Pregnancy Complications"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Pathological Conditions, Signs and Symptoms"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Behavior and Behavior Mechanisms"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305","   Mental Disorders"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305","   Nervous System Diseases"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148","   Nervous System Diseases"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148","   Pathological Conditions, Signs and Symptoms"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305","   Nervous System Diseases"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305","   Male Urogenital Diseases"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305","   Nervous System Diseases"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305","   Male Urogenital Diseases"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3463992","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",592,6,"0.8317749686210503","   Nervous System Diseases"]
["C0024214","Lymphangiectasis",530,6,"0.6760153254740777","   Hemic and Lymphatic Diseases"]
["C0024236","Lymphedema",530,6,"-0.03265059806078997","   Hemic and Lymphatic Diseases"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861","   Hemic and Lymphatic Diseases"]
["C1313885","Hereditary edema of legs",530,6,"0.6760153254740776"]
["C1704423","Milroy Disease",530,6,"0.535007958582348","   Hemic and Lymphatic Diseases"]
["C4014628","LYMPHEDEMA, HEREDITARY, ID",530,6,"0.36209830077269245"]
["C0543968","Cone dysfunction syndrome",476,6,"0.9195113948520234"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","   Eye Diseases"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","   Eye Diseases"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403","   Eye Diseases"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Infections"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Respiratory Tract Diseases"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Otorhinolaryngologic Diseases"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Nervous System Diseases"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Eye Diseases"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127","   Pathological Conditions, Signs and Symptoms"]
["C3151784","MACULAR DEGENERATION, X-LINKED ATROPHIC",476,6,"0.982799499958127"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","   Male Urogenital Diseases"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","   Female Urogenital Diseases and Pregnancy Complications"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","   Nutritional and Metabolic Diseases"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327","   Male Urogenital Diseases"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327","   Nutritional and Metabolic Diseases"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609","   Male Urogenital Diseases"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609","   Female Urogenital Diseases and Pregnancy Complications"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609","   Nutritional and Metabolic Diseases"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006","   Male Urogenital Diseases"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006","   Female Urogenital Diseases and Pregnancy Complications"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006","   Nutritional and Metabolic Diseases"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572","   Male Urogenital Diseases"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572","   Female Urogenital Diseases and Pregnancy Complications"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572","   Nutritional and Metabolic Diseases"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216","   Male Urogenital Diseases"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216","   Female Urogenital Diseases and Pregnancy Complications"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216","   Nutritional and Metabolic Diseases"]
["C2677565","AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)",438,6,"0.9826350552897193"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996","   Nervous System Diseases"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996","   Nutritional and Metabolic Diseases"]
["C3148872","FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150169","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150171","FTLD-TDP, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193","   Nervous System Diseases"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193","   Nutritional and Metabolic Diseases"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819","   Infections"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819","   Skin and Connective Tissue Diseases"]
["C0149778","Soft Tissue Infections",420,6,"0.9162993573373813","   Infections"]
["C0264515","Pneumonia, Necrotizing",420,6,"0.9415573225512234","   Respiratory Tract Diseases"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234","   Nervous System Diseases"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846131","Photosensitive tonic-clonic seizures",420,6,"0.9415573225512234"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Musculoskeletal Diseases"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Nervous System Diseases"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Eye Diseases"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Pathological Conditions, Signs and Symptoms"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Behavior and Behavior Mechanisms"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234","   Mental Disorders"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","   Cardiovascular Diseases"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","   Hemic and Lymphatic Diseases"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933","   Skin and Connective Tissue Diseases"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697","   Cardiovascular Diseases"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697","   Hemic and Lymphatic Diseases"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697","   Skin and Connective Tissue Diseases"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175","   Cardiovascular Diseases"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175","   Hemic and Lymphatic Diseases"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175","   Skin and Connective Tissue Diseases"]
["C3279392","PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C3279393","PXE, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C4531299","Premature occlusive vascular stenosis",393,6,"0.09607115322396818"]
["C0472761","Homozygous alpha thalassemia",366,6,"0.970112026302299"]
["C0475813","Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder",366,6,"0.9663750839256856"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Nervous System Diseases"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Hemic and Lymphatic Diseases"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Pathological Conditions, Signs and Symptoms"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Behavior and Behavior Mechanisms"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999","   Mental Disorders"]
["C0878520","beta Thalassemia, heterozygous",366,6,"0.8692861543865809"]
["C1260396","Alpha thalassemia intermedia",366,6,"0.970112026302299"]
["C3161174","Hemoglobin H Disease",366,6,"0.9066147473341469"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819","   Skin and Connective Tissue Diseases"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241","   Skin and Connective Tissue Diseases"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819","   Musculoskeletal Diseases"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819","   Nervous System Diseases"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819","   Skin and Connective Tissue Diseases"]
["C3150989","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",351,6,"0.9524686161520819"]
["C4024942","Late-onset muscular dystrophy",351,6,"0.7987897505255578"]
["C4225309","EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY",351,6,"0.9524686161520819"]
["C0221259","Trichiasis",348,6,"1.0","   Eye Diseases"]
["C0395973","Recessive sensorineural hearing loss",348,6,"1.0"]
["C0452136","Conductive hearing loss, bilateral",348,6,"1.0"]
["C0478084","Other congenital ichthyosis",348,6,"1.0"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0","   Otorhinolaryngologic Diseases"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0","   Nervous System Diseases"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0","   Skin and Connective Tissue Diseases"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0","   Otorhinolaryngologic Diseases"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0","   Nervous System Diseases"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0029442","Osteomalacia",339,6,"0.005119648623869788"]
["C0235394","Wasting",339,6,"0.5685219587206719"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236","   Male Urogenital Diseases"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236","   Female Urogenital Diseases and Pregnancy Complications"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236","   Nutritional and Metabolic Diseases"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","   Musculoskeletal Diseases"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","   Male Urogenital Diseases"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","   Female Urogenital Diseases and Pregnancy Complications"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659","   Nutritional and Metabolic Diseases"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712","   Neoplasms"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712","   Skin and Connective Tissue Diseases"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716","   Musculoskeletal Diseases"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716","   Nutritional and Metabolic Diseases"]
["C0393698","Cryptogenic Infantile Spasms",306,6,"0.9757643589272029","   Nervous System Diseases"]
["C0393699","Symptomatic Infantile Spasms",306,6,"0.9757643589272029","   Nervous System Diseases"]
["C0546878","Nodding spasm",306,6,"0.9757643589272029","   Nervous System Diseases"]
["C0553558","Jackknife Seizures",306,6,"0.9757643589272029","   Nervous System Diseases"]
["C1527306","spasmus nutans",306,6,"0.9757643589272029","   Nervous System Diseases"]
["C1527366","Salaam Seizures",306,6,"0.8865591049575577","   Nervous System Diseases"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","   Musculoskeletal Diseases"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984","   Musculoskeletal Diseases"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984","   Skin and Connective Tissue Diseases"]
["C1863391","Vogt Cephalodactyly",268,6,"0.9112906808164984"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Musculoskeletal Diseases"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Stomatognathic Diseases"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Nervous System Diseases"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Pathological Conditions, Signs and Symptoms"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Behavior and Behavior Mechanisms"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984","   Mental Disorders"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239","   Musculoskeletal Diseases"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3281247","BENT BONE DYSPLASIA SYNDROME",268,6,"0.9112906808164984"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723","   Nutritional and Metabolic Diseases"]
["C0282193","Iron Overload",241,6,"-0.07758041863174105","   Nutritional and Metabolic Diseases"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784","   Nervous System Diseases"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784","   Nutritional and Metabolic Diseases"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062","   Nutritional and Metabolic Diseases"]
["C1858583","HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",241,6,"0.26468488753674224","   Nutritional and Metabolic Diseases"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664","   Nervous System Diseases"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664","   Nutritional and Metabolic Diseases"]
["C0000833","Abscess",222,6,"0.581505321423442","   Infections"]
["C0000833","Abscess",222,6,"0.581505321423442","   Pathological Conditions, Signs and Symptoms"]
["C0268419","Acatalasia",222,6,"0.8911954096941628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268419","Acatalasia",222,6,"0.8911954096941628","   Nutritional and Metabolic Diseases"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628","   Nutritional and Metabolic Diseases"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628","   Nutritional and Metabolic Diseases"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628","   Nutritional and Metabolic Diseases"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628","   Nutritional and Metabolic Diseases"]
["C0033300","Progeria",184,6,"0.6345171388494887","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033300","Progeria",184,6,"0.6345171388494887","   Nutritional and Metabolic Diseases"]
["C0270254","Hydrops of placenta",184,6,"0.8972865878833377"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349","   Musculoskeletal Diseases"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349","   Skin and Connective Tissue Diseases"]
["C0685924","Adhesions of temporomandibular joint",184,6,"0.8972865878833377"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557","   Skin and Connective Tissue Diseases"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557","   Nutritional and Metabolic Diseases"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557","   Immune System Diseases"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377","   Musculoskeletal Diseases"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377","   Stomatognathic Diseases"]
["C0011156","Deficiency Diseases",180,6,"0.36174723865131375"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244","   Male Urogenital Diseases"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244","   Female Urogenital Diseases and Pregnancy Complications"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244","   Cardiovascular Diseases"]
["C0232197","Fibrillation",180,6,"0.21342216278468734"]
["C0270780","Degenerative myelopathy",180,6,"0.5159609591113244"]
["C3542025","AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",180,6,"0.1648685959396861"]
["C3825201","Mitochondrial pathology",180,6,"0.4423756692204582"]
["C0020595","Hypoaldosteronism",157,6,"0.1961937930001835","   Endocrine System Diseases"]
["C0268293","Corticosterone Methyl Oxidase Type I Deficiency",157,6,"0.5550612094891115","   Endocrine System Diseases"]
["C0376185","Hypoaldosteronism, Hyporeninemic",157,6,"0.5550612094891115","   Endocrine System Diseases"]
["C0701163","Adrenogenital disorder",157,6,"0.32536153033283927"]
["C3463917","Corticosterone Methyl Oxidase Type II Deficiency",157,6,"0.5550612094891115"]
["C3713420","Familial Hyperaldosteronism",157,6,"0.11995130846431504","   Endocrine System Diseases"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814","   Cardiovascular Diseases"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814","   Skin and Connective Tissue Diseases"]
["C0041228","African Trypanosomiasis",156,6,"-0.05304669301863994"]
["C0085740","Mendelson Syndrome",156,6,"-0.14479271600563814","   Respiratory Tract Diseases"]
["C0340520","Athlete\\'s heart",156,6,"0.39154354883114173"]
["C1321756","Achalasia",156,6,"-0.20450268771115046"]
["C1867403","Pyloric Stenosis, Infantile Hypertrophic 1",156,6,"-0.3744174322734409","   Digestive System Diseases"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873","   Hemic and Lymphatic Diseases"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873","   Pathological Conditions, Signs and Symptoms"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827","   Hemic and Lymphatic Diseases"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827","   Immune System Diseases"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827","   Pathological Conditions, Signs and Symptoms"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153","   Hemic and Lymphatic Diseases"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153","   Pathological Conditions, Signs and Symptoms"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181","   Hemic and Lymphatic Diseases"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181","   Pathological Conditions, Signs and Symptoms"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396","   Hemic and Lymphatic Diseases"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396","   Pathological Conditions, Signs and Symptoms"]
["C2717961","Thrombotic Microangiopathies",134,6,"0.15056548950475487","   Hemic and Lymphatic Diseases"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496","   Digestive System Diseases"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792","   Skin and Connective Tissue Diseases"]
["C1096155","Macrophage Activation Syndrome",112,6,"0.4606583798699249","   Immune System Diseases"]
["C4015067","AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS",112,6,"0.46628036569364917"]
["C4015276","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4",112,6,"0.46628036569364917"]
["C4225218","AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",112,6,"-0.1117809686920282"]
["C0031069","Familial Mediterranean Fever",86,6,"0.9229180407194504","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013","   Musculoskeletal Diseases"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013","   Skin and Connective Tissue Diseases"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013","   Immune System Diseases"]
["C0151859","Polyserositis",86,6,"0.9279116111185013"]
["C0585274","Periodic syndrome",86,6,"0.7999244510282996"]
["C1851347","Familial Mediterranean Fever, Autosomal Dominant",86,6,"0.9279116111185013","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3267073","Autoinflammatory disease",86,6,"0.696311485670011"]
["C0019247","Hereditary Diseases",73,6,"0.8360101580381964"]
["C0037176","Single-Gene Defects",73,6,"0.8425313121540062"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","   Musculoskeletal Diseases"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","   Male Urogenital Diseases"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","   Female Urogenital Diseases and Pregnancy Complications"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593","   Nutritional and Metabolic Diseases"]
["C1956089","Osteophyte",73,6,"0.5536156371508102","   Musculoskeletal Diseases"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062","   Musculoskeletal Diseases"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062","   Nutritional and Metabolic Diseases"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","   Musculoskeletal Diseases"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","   Male Urogenital Diseases"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","   Female Urogenital Diseases and Pregnancy Complications"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926","   Nutritional and Metabolic Diseases"]
["C0030499","Parasitic Diseases",66,6,"0.70907731445352"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742","   Hemic and Lymphatic Diseases"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742","   Skin and Connective Tissue Diseases"]
["C0155880","Intrinsic asthma",66,6,"0.9266062655996742"]
["C0311368","Idiopathic eosinophilia",66,6,"0.9266062655996742"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742","   Digestive System Diseases"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742","   Hemic and Lymphatic Diseases"]
["C1322281","Seasonal rhinitis",66,6,"0.9266062655996742"]
["C0235419","Hyperuricemic nephropathy",50,6,"0.997573961104989"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Musculoskeletal Diseases"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Male Urogenital Diseases"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Nutritional and Metabolic Diseases"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452","   Pathological Conditions, Signs and Symptoms"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989","   Male Urogenital Diseases"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989","   Female Urogenital Diseases and Pregnancy Complications"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989","   Pathological Conditions, Signs and Symptoms"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989","   Male Urogenital Diseases"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989","   Female Urogenital Diseases and Pregnancy Complications"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280216","HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",50,6,"0.997573961104989"]
["C4020705","Glomerulocystic kidney disease",50,6,"0.99059824428434"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334","   Hemic and Lymphatic Diseases"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334","   Pathological Conditions, Signs and Symptoms"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801","   Hemic and Lymphatic Diseases"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485","   Hemic and Lymphatic Diseases"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485","   Hemic and Lymphatic Diseases"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485","   Hemic and Lymphatic Diseases"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485","   Hemic and Lymphatic Diseases"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423","   Hemic and Lymphatic Diseases"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0235522","Disorder of vein",15,6,"0.9904669110156423"]
["C0749087","Thrombosis of subclavian vein",15,6,"0.9904669110156423"]
["C1853831","Bleeding Disorder, East Texas Type",15,6,"0.9904669110156423","   Hemic and Lymphatic Diseases"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423","   Hemic and Lymphatic Diseases"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2584620","Thrombophilia, hereditary",15,6,"0.9353652690662111","   Hemic and Lymphatic Diseases"]
["C0007177","Cardiac Tamponade",14,6,"0.729147014733889","   Cardiovascular Diseases"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461","   Nervous System Diseases"]
["C0085307","Embolism and Thrombosis",14,6,"0.443470289383963","   Cardiovascular Diseases"]
["C0750949","Vertebrogenic Pain Syndrome",14,6,"0.7301506248948058","   Pathological Conditions, Signs and Symptoms"]
["C2676721","Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058","   Hemic and Lymphatic Diseases"]
["C2676722","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349","   Nervous System Diseases"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826","   Nervous System Diseases"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658","   Nervous System Diseases"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337","   Nervous System Diseases"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838230","SPINAL MUSCULAR ATROPHY, TYPE IV",4,6,"0.6303982245856342","   Nervous System Diseases"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495","   Nervous System Diseases"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268241","Pancreatic colipase deficiency",2083,5,"1.0"]
["C3280527","PANCREATIC LIPASE DEFICIENCY",2083,5,"1.0"]
["C3280528","COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C3280529","LIPASE AND COLIPASE, DEFICIENCY OF",2083,5,"1.0"]
["C3280530","LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922","   Digestive System Diseases"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922","   Chemically-Induced Disorders"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896","   Digestive System Diseases"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896","   Chemically-Induced Disorders"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221","   Digestive System Diseases"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221","   Chemically-Induced Disorders"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221","   Digestive System Diseases"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221","   Chemically-Induced Disorders"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221","   Digestive System Diseases"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221","   Chemically-Induced Disorders"]
["C1840364","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",2019,5,"0.673654338282343","   Endocrine System Diseases"]
["C2937288","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",2019,5,"0.6748968612989924","   Endocrine System Diseases"]
["C2940786","Thyroid Hormone Resistance Syndrome",2019,5,"0.5561212833631795","   Endocrine System Diseases"]
["C3280817","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",2019,5,"0.0563628462130201"]
["C3489796","Thyroid Hormone Resistance, Generalized, Autosomal Recessive",2019,5,"0.6748968612989924","   Endocrine System Diseases"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496","   Stomatognathic Diseases"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496","   Nervous System Diseases"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496","   Mental Disorders"]
["C1291560","Deficiency of glutamate decarboxylase",1995,5,"0.5501185709836273"]
["C1849508","EPILEPSY, PYRIDOXINE-DEPENDENT",1995,5,"0.4039462108640794","   Nervous System Diseases"]
["C4014621","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25",1995,5,"0.2836531644246132"]
["C4310632","EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",1995,5,"0.2487001495425813"]
["C1850343","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME",1974,5,"0.5511721923257112","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864389","PREMATURE CHROMATID SEPARATION TRAIT",1974,5,"0.1419757855409024"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Musculoskeletal Diseases"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Nervous System Diseases"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Pathological Conditions, Signs and Symptoms"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Behavior and Behavior Mechanisms"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288","   Mental Disorders"]
["C3279843","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",1974,5,"0.20760954377828894"]
["C4539839","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3",1974,5,"0.15638233159140782"]
["C0014378","Enterovirus Infections",1854,5,"0.010236797056306087"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438","   Musculoskeletal Diseases"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438","   Nutritional and Metabolic Diseases"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229","   Nutritional and Metabolic Diseases"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567","   Nutritional and Metabolic Diseases"]
["C3150876","COG5 congenital disorder of glycosylation",1854,5,"0.16907535155741946"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978","   Musculoskeletal Diseases"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978","   Nervous System Diseases"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639","   Musculoskeletal Diseases"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639","   Nervous System Diseases"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639","   Pathological Conditions, Signs and Symptoms"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978","   Musculoskeletal Diseases"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978","   Nervous System Diseases"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195","   Musculoskeletal Diseases"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195","   Nervous System Diseases"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4511057","Congenital muscular dystrophy Paradas type",1851,5,"0.9965337209002978"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934","   Infections"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934","   Stomatognathic Diseases"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821","   Infections"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821","   Female Urogenital Diseases and Pregnancy Complications"]
["C0022408","Arthropathy",1850,5,"0.3414743229593591","   Musculoskeletal Diseases"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026","   Infections"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026","   Female Urogenital Diseases and Pregnancy Complications"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104","   Infections"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104","   Female Urogenital Diseases and Pregnancy Complications"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103","   Neoplasms"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103","   Skin and Connective Tissue Diseases"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914","   Respiratory Tract Diseases"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914","   Otorhinolaryngologic Diseases"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914","   Pathological Conditions, Signs and Symptoms"]
["C1835039","Melanosis, Universal",1847,5,"0.8519229792530103","   Skin and Connective Tissue Diseases"]
["C1840392","HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",1847,5,"0.8519229792530103","   Skin and Connective Tissue Diseases"]
["C4225241","DEAFNESS, AUTOSOMAL DOMINANT 69",1847,5,"0.8519229792530103"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0","   Musculoskeletal Diseases"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0","   Musculoskeletal Diseases"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0","   Musculoskeletal Diseases"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","   Musculoskeletal Diseases"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","   Otorhinolaryngologic Diseases"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","   Nervous System Diseases"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4015286","MACULAR DEGENERATION, EARLY-ONSET",1833,5,"1.0"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456","   Digestive System Diseases"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456","   Pathological Conditions, Signs and Symptoms"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","   Male Urogenital Diseases"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","   Female Urogenital Diseases and Pregnancy Complications"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","   Pathological Conditions, Signs and Symptoms"]
["C0264885","Myxoid transformation of mitral valve",1829,5,"0.8035512099629083"]
["C3554279","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",1829,5,"0.7956855749996385"]
["C4509918","Polyvalvular heart disease syndrome",1829,5,"0.8035512099629083"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336","   Skin and Connective Tissue Diseases"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336","   Pathological Conditions, Signs and Symptoms"]
["C0477506","Other specified nonscarring hair loss",1795,5,"0.6383419119718972"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464","   Skin and Connective Tissue Diseases"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464","   Pathological Conditions, Signs and Symptoms"]
["C2750815","Marie Unna Hereditary Hypotrichosis 1",1795,5,"0.8169625301232976","   Skin and Connective Tissue Diseases"]
["C2931059","Marie Unna congenital hypotrichosis",1795,5,"0.7014044744662146","   Skin and Connective Tissue Diseases"]
["C1859228","Cerebrohepatorenal Syndrome, Variant Types",1771,5,"1.0"]
["C3550234","PEROXISOME BIOGENESIS DISORDER 2B",1771,5,"1.0"]
["C3550273","PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)",1771,5,"1.0"]
["C3550274","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",1771,5,"1.0"]
["C4225237","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",1771,5,"1.0"]
["C0393912","Segmental Autonomic Dysfunction",1765,5,"1.0","   Nervous System Diseases"]
["C0750944","Peripheral Autonomic Nervous System Diseases",1765,5,"1.0","   Nervous System Diseases"]
["C0750945","Nervous System Diseases, Parasympathetic",1765,5,"1.0","   Nervous System Diseases"]
["C0750946","Nervous System Diseases, Sympathetic",1765,5,"1.0","   Nervous System Diseases"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0","   Digestive System Diseases"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0","   Nervous System Diseases"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0","   Cardiovascular Diseases"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","   Stomatognathic Diseases"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","   Skin and Connective Tissue Diseases"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","   Immune System Diseases"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","   Chemically-Induced Disorders"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","   Stomatognathic Diseases"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","   Skin and Connective Tissue Diseases"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","   Immune System Diseases"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","   Chemically-Induced Disorders"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698","   Stomatognathic Diseases"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698","   Skin and Connective Tissue Diseases"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698","   Immune System Diseases"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698","   Chemically-Induced Disorders"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083","   Stomatognathic Diseases"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083","   Skin and Connective Tissue Diseases"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083","   Immune System Diseases"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083","   Chemically-Induced Disorders"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674","   Stomatognathic Diseases"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674","   Skin and Connective Tissue Diseases"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674","   Immune System Diseases"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674","   Chemically-Induced Disorders"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674","   Nervous System Diseases"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393577","Pallidal degeneration",1760,5,"0.5824712588268566"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566","   Nervous System Diseases"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387","   Nervous System Diseases"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387","   Nutritional and Metabolic Diseases"]
["C3550973","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5",1760,5,"0.0008224967299390304"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076","   Male Urogenital Diseases"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076","   Pathological Conditions, Signs and Symptoms"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Nervous System Diseases"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Eye Diseases"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Male Urogenital Diseases"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Female Urogenital Diseases and Pregnancy Complications"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364","   Pathological Conditions, Signs and Symptoms"]
["C3280113","NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",1753,5,"0.9455386127908967"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967","   Male Urogenital Diseases"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967","   Female Urogenital Diseases and Pregnancy Complications"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967","   Pathological Conditions, Signs and Symptoms"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Nervous System Diseases"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Eye Diseases"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Male Urogenital Diseases"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Female Urogenital Diseases and Pregnancy Complications"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967","   Pathological Conditions, Signs and Symptoms"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373","   Musculoskeletal Diseases"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373","   Nutritional and Metabolic Diseases"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692","   Musculoskeletal Diseases"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692","   Nutritional and Metabolic Diseases"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692","   Nutritional and Metabolic Diseases"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692","   Nutritional and Metabolic Diseases"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692","   Nervous System Diseases"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692","   Nutritional and Metabolic Diseases"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0","   Musculoskeletal Diseases"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0","   Nervous System Diseases"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0","   Eye Diseases"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0","   Cardiovascular Diseases"]
["C3151065","Cataract, Posterior Polar, 2",1747,5,"1.0","   Eye Diseases"]
["C3151236","MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",1747,5,"1.0"]
["C3554649","CARDIOMYOPATHY, DILATED, 1II",1747,5,"1.0"]
["C3808377","CATARACT 16, MULTIPLE TYPES",1747,5,"1.0"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","   Musculoskeletal Diseases"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","   Male Urogenital Diseases"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","   Female Urogenital Diseases and Pregnancy Complications"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","   Endocrine System Diseases"]
["C0265856","Hypoplasia of right heart",1735,5,"0.5925835487683471"]
["C0344963","Right hypoplastic heart syndrome",1735,5,"0.5925835487683471"]
["C4225164","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",1735,5,"0.5925835487683471"]
["C4225363","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",1735,5,"0.055851280077416444"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944","   Nervous System Diseases"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944","   Nutritional and Metabolic Diseases"]
["C0221168","Podagra",1710,5,"0.8225380418005229"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959","   Musculoskeletal Diseases"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959","   Nutritional and Metabolic Diseases"]
["C0740394","Hyperuricemia",1710,5,"0.03535227515319863","   Pathological Conditions, Signs and Symptoms"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229","   Nervous System Diseases"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229","   Nutritional and Metabolic Diseases"]
["C0403719","Uric acid urolithiasis",1709,5,"0.6422766674534127"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","   Otorhinolaryngologic Diseases"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","   Nervous System Diseases"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","   Eye Diseases"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305","   Pathological Conditions, Signs and Symptoms"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Musculoskeletal Diseases"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Otorhinolaryngologic Diseases"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Nervous System Diseases"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Eye Diseases"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305","   Pathological Conditions, Signs and Symptoms"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305","   Otorhinolaryngologic Diseases"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305","   Nervous System Diseases"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305","   Pathological Conditions, Signs and Symptoms"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305","   Nutritional and Metabolic Diseases"]
["C0221333","Hypouricemia",1708,5,"0.12946930590856384"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576","   Male Urogenital Diseases"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576","   Female Urogenital Diseases and Pregnancy Complications"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576","   Nutritional and Metabolic Diseases"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576","   Pathological Conditions, Signs and Symptoms"]
["C0744466","gout tophaceous",1708,5,"0.730238388189677"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677","   Male Urogenital Diseases"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677","   Female Urogenital Diseases and Pregnancy Complications"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677","   Nutritional and Metabolic Diseases"]
["C2677551","GOUT SUSCEPTIBILITY 2",1708,5,"0.730238388189677"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","   Nervous System Diseases"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271007","Phthisis bulbi",1694,5,"0.1501664216321542"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483","   Nervous System Diseases"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055","   Nervous System Diseases"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465","   Pathological Conditions, Signs and Symptoms"]
["C0154748","Lesion of Sciatic Nerve",1685,5,"0.8539797045288393","   Nervous System Diseases"]
["C0242013","Sciatic Neuritis",1685,5,"0.8539797045288393","   Nervous System Diseases"]
["C0751924","Neuralgia-Neuritis, Sciatic Nerve",1685,5,"0.8539797045288393","   Nervous System Diseases"]
["C0751925","Sciatic Nerve Palsy",1685,5,"0.8539797045288393","   Nervous System Diseases"]
["C3809803","MICROPHTHALMIA, SYNDROMIC 12",1685,5,"0.38920436977425665"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","   Male Urogenital Diseases"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","   Female Urogenital Diseases and Pregnancy Complications"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","   Nutritional and Metabolic Diseases"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279","   Male Urogenital Diseases"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279","   Nutritional and Metabolic Diseases"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811","   Male Urogenital Diseases"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811","   Nutritional and Metabolic Diseases"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526","   Male Urogenital Diseases"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526","   Nutritional and Metabolic Diseases"]
["C1857390","Cystinuria, Type A-B",1676,5,"0.9745055476398384"]
["C1288283","Atrophoderma maculatum",1657,5,"0.08431152027243953","   Skin and Connective Tissue Diseases"]
["C3281045","CONE-ROD DYSTROPHY 16",1657,5,"0.7784678986723551"]
["C3281046","RETINITIS PIGMENTOSA 64",1657,5,"0.7833253612152383"]
["C4049066","Retinal dystrophy with early macular involvement",1657,5,"0.7663194196614513"]
["C4319932","BARDET-BIEDL SYNDROME 21",1657,5,"0.7833253612152383"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374","   Nervous System Diseases"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374","   Nutritional and Metabolic Diseases"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Nervous System Diseases"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Nutritional and Metabolic Diseases"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Nervous System Diseases"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711","   Nutritional and Metabolic Diseases"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592","   Nervous System Diseases"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592","   Nutritional and Metabolic Diseases"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628","   Nervous System Diseases"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628","   Nutritional and Metabolic Diseases"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169","   Nutritional and Metabolic Diseases"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295","   Nutritional and Metabolic Diseases"]
["C1844412","Liver Glycogenosis, X-Linked, Type II",1644,5,"0.7599745654210066"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066","   Nutritional and Metabolic Diseases"]
["C3694531","GLYCOGEN STORAGE DISEASE IXa1",1644,5,"0.7599745654210066"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","   Nervous System Diseases"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","   Eye Diseases"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","   Nervous System Diseases"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","   Eye Diseases"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106","   Nervous System Diseases"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106","   Eye Diseases"]
["C3280266","NARCOLEPSY 7",1629,5,"-0.2147329552818631"]
["C4310800","SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",1629,5,"0.6853346079299106"]
["C3539010","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",1594,5,"1.0"]
["C3542026","PEROXISOME BIOGENESIS DISORDER 5B",1594,5,"1.0"]
["C3553940","PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)",1594,5,"1.0"]
["C3553941","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",1594,5,"1.0"]
["C3553942","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",1594,5,"1.0"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444","   Nervous System Diseases"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444","   Nutritional and Metabolic Diseases"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","   Nervous System Diseases"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","   Nutritional and Metabolic Diseases"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365","   Nervous System Diseases"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365","   Nutritional and Metabolic Diseases"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616","   Nervous System Diseases"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616","   Nutritional and Metabolic Diseases"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283","   Nervous System Diseases"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283","   Nutritional and Metabolic Diseases"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","   Skin and Connective Tissue Diseases"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","   Pathological Conditions, Signs and Symptoms"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186","   Skin and Connective Tissue Diseases"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186","   Pathological Conditions, Signs and Symptoms"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353","   Skin and Connective Tissue Diseases"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353","   Pathological Conditions, Signs and Symptoms"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733","   Skin and Connective Tissue Diseases"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733","   Pathological Conditions, Signs and Symptoms"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126","   Skin and Connective Tissue Diseases"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126","   Pathological Conditions, Signs and Symptoms"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Otorhinolaryngologic Diseases"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Nervous System Diseases"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Male Urogenital Diseases"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Female Urogenital Diseases and Pregnancy Complications"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Endocrine System Diseases"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734","   Pathological Conditions, Signs and Symptoms"]
["C3554105","PERRAULT SYNDROME 2",1551,5,"0.24707933299286597"]
["C3808414","PERRAULT SYNDROME 3",1551,5,"0.31581968578772746"]
["C3809105","PERRAULT SYNDROME 4",1551,5,"0.5180309817283943"]
["C4310761","HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",1551,5,"0.31372328962368096"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568","   Nervous System Diseases"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568","   Eye Diseases"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568","   Pathological Conditions, Signs and Symptoms"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188","   Nervous System Diseases"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355","   Musculoskeletal Diseases"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355","   Nervous System Diseases"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355","   Eye Diseases"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3810230","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6",1501,5,"-0.04945486343765596"]
["C4020811","Length dependent motor neuropathy",1501,5,"0.4003814008500861"]
["C0023501","Leukemoid Reaction",1493,5,"0.5419678429417788","   Hemic and Lymphatic Diseases"]
["C0259743","Autosomal recessive SCID",1493,5,"0.5419678429417788"]
["C0451694","Severe combined immunodeficiency with low or normal B-cell numbers",1493,5,"0.6248151313098189"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788","   Nutritional and Metabolic Diseases"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788","   Immune System Diseases"]
["C3809383","IMMUNODEFICIENCY 8",1493,5,"0.08153646319258152"]
["C1306557","Chronic venous insufficiency",1490,5,"0.4197229613425671"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412","   Nervous System Diseases"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412","   Eye Diseases"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501","   Nervous System Diseases"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501","   Eye Diseases"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787","   Eye Diseases"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024769","Reticular pigmentary degeneration",1490,5,"0.8097167702994019"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Nervous System Diseases"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Eye Diseases"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Endocrine System Diseases"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Pathological Conditions, Signs and Symptoms"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Behavior and Behavior Mechanisms"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525","   Mental Disorders"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Musculoskeletal Diseases"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Nervous System Diseases"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Eye Diseases"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Endocrine System Diseases"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Pathological Conditions, Signs and Symptoms"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Behavior and Behavior Mechanisms"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932","   Mental Disorders"]
["C3280203","WARBURG MICRO SYNDROME 3",1435,5,"-0.06258504762671371"]
["C3280214","WARBURG MICRO SYNDROME 2",1435,5,"0.23112283544863307"]
["C3810265","WARBURG MICRO SYNDROME 4",1435,5,"-0.06942722286925986"]
["C0267809","Cirrhosis, Cryptogenic",1431,5,"0.999597534729279","   Digestive System Diseases"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154","   Digestive System Diseases"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154","   Respiratory Tract Diseases"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232","   Digestive System Diseases"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232","   Nutritional and Metabolic Diseases"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232","   Digestive System Diseases"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876166","Endemic Tyrolean Infantile Cirrhosis",1431,5,"0.9996601104552232","   Pathological Conditions, Signs and Symptoms"]
["C0009451","Communicating Hydrocephalus",1423,5,"0.8396907037589559","   Nervous System Diseases"]
["C0270720","Hydrocephalus Ex-Vacuo",1423,5,"0.9282510595005322","   Nervous System Diseases"]
["C0477432","Post-Traumatic Hydrocephalus",1423,5,"0.9282510595005322","   Nervous System Diseases"]
["C0549423","Obstructive Hydrocephalus",1423,5,"0.8902721931853674","   Nervous System Diseases"]
["C2936786","Aqueductal Stenosis",1423,5,"0.875456687988016","   Nervous System Diseases"]
["C0155760","Rupture of artery",1420,5,"0.6702383025982454"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151","   Cardiovascular Diseases"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151","   Hemic and Lymphatic Diseases"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151","   Skin and Connective Tissue Diseases"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911","   Musculoskeletal Diseases"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911","   Skin and Connective Tissue Diseases"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911","   Pathological Conditions, Signs and Symptoms"]
["C2936777","Nevo syndrome (disorder)",1420,5,"0.6160724138576151","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4023719","Spontaneous rupture of the globe",1420,5,"0.6160724138576151"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264","   Nervous System Diseases"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264","   Pathological Conditions, Signs and Symptoms"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842","   Nervous System Diseases"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842","   Pathological Conditions, Signs and Symptoms"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952","   Nervous System Diseases"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952","   Pathological Conditions, Signs and Symptoms"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952","   Nervous System Diseases"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952","   Pathological Conditions, Signs and Symptoms"]
["C0752196","Ballismus",1418,5,"0.8988442563550952","   Nervous System Diseases"]
["C0752196","Ballismus",1418,5,"0.8988442563550952","   Pathological Conditions, Signs and Symptoms"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038","   Nervous System Diseases"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038","   Cardiovascular Diseases"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547","   Nervous System Diseases"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547","   Cardiovascular Diseases"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102","   Nervous System Diseases"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102","   Cardiovascular Diseases"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102","   Nervous System Diseases"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102","   Cardiovascular Diseases"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102","   Nervous System Diseases"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102","   Cardiovascular Diseases"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552","   Neoplasms"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552","   Digestive System Diseases"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075","   Neoplasms"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075","   Digestive System Diseases"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075","   Neoplasms"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075","   Digestive System Diseases"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916","   Neoplasms"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916","   Digestive System Diseases"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075","   Neoplasms"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075","   Digestive System Diseases"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1306229","Dyschromatosis universalis",1386,5,"0.9205461551351056"]
["C1836705","Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",1386,5,"0.9205461551351056","   Nutritional and Metabolic Diseases"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992","   Skin and Connective Tissue Diseases"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992","   Pathological Conditions, Signs and Symptoms"]
["C3281027","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7",1386,5,"0.9205461551351056"]
["C3809394","DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3",1386,5,"0.9205461551351056"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862","   Nutritional and Metabolic Diseases"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862","   Immune System Diseases"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407","   Nutritional and Metabolic Diseases"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407","   Immune System Diseases"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671","   Nutritional and Metabolic Diseases"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671","   Immune System Diseases"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206","   Nutritional and Metabolic Diseases"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206","   Immune System Diseases"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988","   Nutritional and Metabolic Diseases"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988","   Immune System Diseases"]
["C0085293","Hepatitis E",1360,5,"0.32903898421665645","   Digestive System Diseases"]
["C0276609","Acute type B viral hepatitis",1360,5,"0.6354784963878342"]
["C0520788","Posttransfusion viral hepatitis",1360,5,"0.49133120035388833"]
["C0814152","Viral hepatitis, type G",1360,5,"0.266753976030262"]
["C3839044","Compensated liver disease",1360,5,"0.4712488114866798"]
["C0152457","Kayser-Fleischer ring",1358,5,"0.33703077800327974"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","   Nervous System Diseases"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","   Nutritional and Metabolic Diseases"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","   Pathological Conditions, Signs and Symptoms"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783"]
["C4024907","Mixed demyelinating and axonal polyneuropathy",1358,5,"0.4261864154025783"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105","   Infections"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105","   Skin and Connective Tissue Diseases"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659","   Skin and Connective Tissue Diseases"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659","   Immune System Diseases"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105","   Skin and Connective Tissue Diseases"]
["C3809719","ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",1340,5,"0.704759334739796"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024","   Nervous System Diseases"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024","   Pathological Conditions, Signs and Symptoms"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024","   Mental Disorders"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436","   Nervous System Diseases"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436","   Pathological Conditions, Signs and Symptoms"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436","   Mental Disorders"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024","   Nervous System Diseases"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024","   Pathological Conditions, Signs and Symptoms"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024","   Mental Disorders"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024","   Nervous System Diseases"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024","   Pathological Conditions, Signs and Symptoms"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024","   Mental Disorders"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737","   Nervous System Diseases"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737","   Pathological Conditions, Signs and Symptoms"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737","   Mental Disorders"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644","   Skin and Connective Tissue Diseases"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843","   Skin and Connective Tissue Diseases"]
["C2910342","Inherited keratosis palmaris et plantaris",1205,5,"0.9758777861766843"]
["C2910343","Keratosis follicularis [Darier-White]",1205,5,"0.9758777861766843"]
["C4024891","Hyperkeratosis with erythema",1205,5,"0.9758777861766843"]
["C0342549","Familial Testotoxicosis",1189,5,"0.7986635229057605","   Endocrine System Diseases"]
["C1504412","Testotoxicosis",1189,5,"0.9446853246923097","   Endocrine System Diseases"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097","   Male Urogenital Diseases"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097","   Female Urogenital Diseases and Pregnancy Complications"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097","   Endocrine System Diseases"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097","   Male Urogenital Diseases"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097","   Female Urogenital Diseases and Pregnancy Complications"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097","   Endocrine System Diseases"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097","   Male Urogenital Diseases"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097","   Female Urogenital Diseases and Pregnancy Complications"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097","   Endocrine System Diseases"]
["C0001623","Adrenal gland hypofunction",1181,5,"-0.13489356862675858","   Endocrine System Diseases"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706","   Male Urogenital Diseases"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706","   Endocrine System Diseases"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558","   Endocrine System Diseases"]
["C3151406","SPERMATOGENIC FAILURE 8",1181,5,"0.6890546489703558"]
["C4479664","ADRENAL INSUFFICIENCY, NR5A1-RELATED",1181,5,"0.6890546489703558"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624","   Nervous System Diseases"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624","   Cardiovascular Diseases"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624","   Nervous System Diseases"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624","   Cardiovascular Diseases"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624","   Nervous System Diseases"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624","   Cardiovascular Diseases"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624","   Nervous System Diseases"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624","   Cardiovascular Diseases"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383","   Nervous System Diseases"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383","   Cardiovascular Diseases"]
["C0027121","Myositis",1129,5,"0.7716076278102184","   Musculoskeletal Diseases"]
["C0027121","Myositis",1129,5,"0.7716076278102184","   Nervous System Diseases"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149","   Musculoskeletal Diseases"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149","   Nervous System Diseases"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149","   Musculoskeletal Diseases"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149","   Nervous System Diseases"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035","   Musculoskeletal Diseases"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035","   Nervous System Diseases"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149","   Musculoskeletal Diseases"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149","   Nervous System Diseases"]
["C1839928","IRIS HYPOPLASIA WITH GLAUCOMA",1128,5,"0.961006916034191","   Eye Diseases"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191","   Eye Diseases"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866561","Glaucoma Iridogoniodysplasia, Familial",1128,5,"0.961006916034191"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305","   Eye Diseases"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191","   Nervous System Diseases"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0264694","Chronic myocardial ischemia",1118,5,"0.0008821836519978632"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","   Musculoskeletal Diseases"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","   Cardiovascular Diseases"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","   Skin and Connective Tissue Diseases"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484","   Pathological Conditions, Signs and Symptoms"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466","   Musculoskeletal Diseases"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466","   Nervous System Diseases"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466","   Skin and Connective Tissue Diseases"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466","   Endocrine System Diseases"]
["C1837839","CARDIOMYOPATHY, DILATED, 1O",1118,5,"0.7584832467371466","   Cardiovascular Diseases"]
["C3279695","ATRIAL FIBRILLATION, FAMILIAL, 12",1118,5,"0.7584832467371466"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696","   Musculoskeletal Diseases"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861306","Synostosis of Talus and Calcaneus with Short Stature",1108,5,"0.9539326140162592"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592","   Musculoskeletal Diseases"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592","   Musculoskeletal Diseases"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714899","SYMPHALANGISM, PROXIMAL, 1A",1108,5,"0.933751820815308"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571","   Nervous System Diseases"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749","   Nervous System Diseases"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150987","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",1036,5,"0.7853360683812317"]
["C4023515","Dialeptic seizures",1036,5,"0.8967851343553571"]
["C4049830","Focal seizures, afebril",1036,5,"0.8967851343553571"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0","   Nervous System Diseases"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852587","EPILEPSY, BENIGN NEONATAL, 1",1035,5,"1.0"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0","   Nervous System Diseases"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3149074","SEIZURES, BENIGN FAMILIAL NEONATAL, 1",1035,5,"1.0"]
["C3149075","SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",1035,5,"1.0"]
["C0152216","Esophoria",1016,5,"1.0","   Nervous System Diseases"]
["C0152216","Esophoria",1016,5,"1.0","   Eye Diseases"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Musculoskeletal Diseases"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Stomatognathic Diseases"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Nervous System Diseases"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Cardiovascular Diseases"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Behavior and Behavior Mechanisms"]
["C1836929","Emanuel syndrome",1016,5,"1.0","   Mental Disorders"]
["C1861129","Takao VCF Syndrome",1016,5,"1.0"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Musculoskeletal Diseases"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Cardiovascular Diseases"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Hemic and Lymphatic Diseases"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Endocrine System Diseases"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3150966","Supernumerary der(22)t(8"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144","   Skin and Connective Tissue Diseases"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486","   Skin and Connective Tissue Diseases"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204","   Skin and Connective Tissue Diseases"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615","   Skin and Connective Tissue Diseases"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615","   Skin and Connective Tissue Diseases"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","   Stomatognathic Diseases"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","   Eye Diseases"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","   Cardiovascular Diseases"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","   Skin and Connective Tissue Diseases"]
["C0029191","Orchitis",1002,5,"0.22429933198955482","   Male Urogenital Diseases"]
["C0029191","Orchitis",1002,5,"0.22429933198955482","   Endocrine System Diseases"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258","   Stomatognathic Diseases"]
["C0149745","Oral Ulcer",1002,5,"-0.02283327277077203","   Stomatognathic Diseases"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656","   Musculoskeletal Diseases"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656","   Eye Diseases"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656","   Skin and Connective Tissue Diseases"]
["C1096274","Corneal thinning",974,5,"0.6577658267875326"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391","   Eye Diseases"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391","   Eye Diseases"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391","   Eye Diseases"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528","   Hemic and Lymphatic Diseases"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528","   Immune System Diseases"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294","   Hemic and Lymphatic Diseases"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187","   Hemic and Lymphatic Diseases"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861","   Hemic and Lymphatic Diseases"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015456","Facial Dermatoses",941,5,"1.0","   Skin and Connective Tissue Diseases"]
["C0015704","Favre-Racouchot Syndrome",941,5,"1.0","   Skin and Connective Tissue Diseases"]
["C0343097","Nodular Elastoidosis",941,5,"1.0","   Skin and Connective Tissue Diseases"]
["C3151189","C9 Deficiency",941,5,"1.0","   Immune System Diseases"]
["C3810042","MACULAR DEGENERATION, AGE-RELATED, 15",941,5,"1.0"]
["C0149841","Benign recurrent intrahepatic cholestasis",930,5,"-0.21421721799221513"]
["C0268312","Progressive intrahepatic cholestasis (disorder)",930,5,"0.19100678841023794","   Digestive System Diseases"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125","   Digestive System Diseases"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125","   Female Urogenital Diseases and Pregnancy Complications"]
["C0742395","Cholestasis, chronic",930,5,"0.046384677680306186"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656","   Digestive System Diseases"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656","   Female Urogenital Diseases and Pregnancy Complications"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329","   Eye Diseases"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864567","CATARACT, POSTERIOR POLAR, 4 (disorder)",917,5,"0.9202954405633545","   Eye Diseases"]
["C1970386","Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",917,5,"0.9202954405633545","   Eye Diseases"]
["C3808029","CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES",917,5,"0.9202954405633545"]
["C4305131","Cataract glaucoma syndrome",917,5,"0.9202954405633545"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624","   Hemic and Lymphatic Diseases"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688","   Hemic and Lymphatic Diseases"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209","   Hemic and Lymphatic Diseases"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658","   Hemic and Lymphatic Diseases"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3278148","BERNARD-SOULIER SYNDROME, TYPE A1",900,5,"0.935479939014467"]
["C0270733","Striatonigral Degeneration",886,5,"0.63782679517134","   Nervous System Diseases"]
["C0393911","Pure Autonomic Failure",886,5,"0.6358882719830289","   Nervous System Diseases"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859","   Musculoskeletal Diseases"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859","   Nervous System Diseases"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859","   Nutritional and Metabolic Diseases"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859","   Pathological Conditions, Signs and Symptoms"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372","   Nervous System Diseases"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3551954","COENZYME Q10 DEFICIENCY, PRIMARY, 1",886,5,"0.596994348389225"]
["C0238590","Acrogeria",836,5,"0.917843561336474"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918","   Cardiovascular Diseases"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918","   Hemic and Lymphatic Diseases"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918","   Skin and Connective Tissue Diseases"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521","   Cardiovascular Diseases"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521","   Hemic and Lymphatic Diseases"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521","   Skin and Connective Tissue Diseases"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474","   Nutritional and Metabolic Diseases"]
["C1853365","AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1",836,5,"0.917843561336474","   Cardiovascular Diseases"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765","   Musculoskeletal Diseases"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765","   Nervous System Diseases"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765","   Cardiovascular Diseases"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858154","CARDIOMYOPATHY, DILATED, 1I",832,5,"0.8344094586458832","   Cardiovascular Diseases"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832","   Nervous System Diseases"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757","   Musculoskeletal Diseases"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757","   Nervous System Diseases"]
["C3809137","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R",832,5,"0.8344094586458832"]
["C0085623","Akinesia",821,5,"0.12382033685444625"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081","   Musculoskeletal Diseases"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023","   Musculoskeletal Diseases"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023","   Nervous System Diseases"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225367","MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"0.18646269144342278"]
["C4225368","MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"-0.13461018234663405"]
["C1836694","Striatal Degeneration, Autosomal Dominant",820,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3280094","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",820,5,"1.0"]
["C4022417","Degeneration of the striatum",820,5,"1.0"]
["C4024947","Symmetric lesions of the basal ganglia",820,5,"1.0"]
["C4310808","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",820,5,"1.0"]
["C1449718","Endocrine Breast Diseases",816,5,"1.0","   Skin and Connective Tissue Diseases"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","   Musculoskeletal Diseases"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","   Stomatognathic Diseases"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0","   Skin and Connective Tissue Diseases"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0","   Musculoskeletal Diseases"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0","   Stomatognathic Diseases"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851879","Cleft Lip with or without Cleft Palate, Nonsyndromic, 8",816,5,"1.0"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0","   Musculoskeletal Diseases"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0","   Stomatognathic Diseases"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0","   Skin and Connective Tissue Diseases"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612","   Cardiovascular Diseases"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612","   Pathological Conditions, Signs and Symptoms"]
["C0264906","Second degree atrioventricular block",788,5,"0.955702896673057"]
["C3554018","SINOATRIAL NODE DYSFUNCTION AND DEAFNESS",788,5,"0.955702896673057"]
["C3809609","PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",788,5,"0.955702896673057"]
["C4023501","Focal myoclonic seizures",788,5,"0.955702896673057"]
["C0008525","Choroideremia",784,5,"0.005265973717552532","   Eye Diseases"]
["C0008525","Choroideremia",784,5,"0.005265973717552532","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0344297","Choroidal sclerosis",784,5,"0.5706909950367378","   Eye Diseases"]
["C1536451","Central areolar choroidal sclerosis",784,5,"0.08872272413980947","   Eye Diseases"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146","   Eye Diseases"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931258","Amaurosis congenita of Leber, type 1",784,5,"0.32651852497600636","   Eye Diseases"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","   Musculoskeletal Diseases"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","   Cardiovascular Diseases"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","   Pathological Conditions, Signs and Symptoms"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668","   Mental Disorders"]
["C1955768","Potassium sensitive periodic paralysis",771,5,"0.999680409462536"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536","   Cardiovascular Diseases"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2875318","Myotonic periodic paralysis (familial)",771,5,"0.999680409462536"]
["C2875319","Normokalemic paralysis (familial)",771,5,"0.999680409462536"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966","   Nervous System Diseases"]
["C0271683","Polyneuropathy, Motor",752,5,"0.6097223738829489","   Nervous System Diseases"]
["C0393851","Polyneuropathy, Critical Illness",752,5,"0.6954672334595603","   Nervous System Diseases"]
["C0751448","Polyneuropathy, Familial",752,5,"0.7015166355769995","   Nervous System Diseases"]
["C0751449","Acquired Polyneuropathy",752,5,"0.6954672334595603","   Nervous System Diseases"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999","   Nervous System Diseases"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999","   Nutritional and Metabolic Diseases"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999","   Nervous System Diseases"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999","   Nutritional and Metabolic Diseases"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999","   Nervous System Diseases"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999","   Nutritional and Metabolic Diseases"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999","   Nervous System Diseases"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999","   Nutritional and Metabolic Diseases"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999","   Nervous System Diseases"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999","   Nutritional and Metabolic Diseases"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0","   Musculoskeletal Diseases"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0","   Nervous System Diseases"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0","   Digestive System Diseases"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0"]
["C0018022","Endemic goiter",678,5,"0.622590013900868","   Endocrine System Diseases"]
["C0302859","Euthyroid Goiter",678,5,"0.8190903156047202","   Endocrine System Diseases"]
["C0342208","Multinodular goiter",678,5,"0.6026990144130777"]
["C1846034","Euthyroid multinodular goiter",678,5,"0.8674578999222015"]
["C4053514","Nasal Chondromesenchymal Hamartoma",678,5,"0.8674578999222015"]
["C0151861","Porphyruria",677,5,"0.9634850647942104"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103","   Digestive System Diseases"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103","   Skin and Connective Tissue Diseases"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103","   Nutritional and Metabolic Diseases"]
["C0342860","Homozygous variegate porphyria",677,5,"0.9634850647942104"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885","   Digestive System Diseases"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885","   Skin and Connective Tissue Diseases"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885","   Nutritional and Metabolic Diseases"]
["C3149848","VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT",677,5,"0.9634850647942104"]
["C0272315","Coagulation factor deficiency syndrome",639,5,"0.4016372355927287"]
["C0272323","Moderate hereditary factor VIII deficiency disease",639,5,"0.6706288898742829"]
["C0472801","Hemophilia A carrier",639,5,"0.7816274237700827"]
["C1096116","Acquired haemophilia",639,5,"0.8585073024109673"]
["C2873785","Deficiency of factor V [labile]",639,5,"0.8585073024109673"]
["C0151281","Genital ulcers",626,5,"1.0"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0","   Immune System Diseases"]
["C1865371","SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",626,5,"1.0"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0","   Nutritional and Metabolic Diseases"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0","   Immune System Diseases"]
["C1865373","SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",626,5,"1.0"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","   Infections"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","   Musculoskeletal Diseases"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","   Otorhinolaryngologic Diseases"]
["C0477324","Other combined immunodeficiencies",625,5,"0.5070714535312029"]
["C1832322","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",625,5,"0.7021714179644835","   Immune System Diseases"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737","   Hemic and Lymphatic Diseases"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737","   Nutritional and Metabolic Diseases"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737","   Immune System Diseases"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772","   Hemic and Lymphatic Diseases"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772","   Nutritional and Metabolic Diseases"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772","   Immune System Diseases"]
["C0023003","Langer-Giedion Syndrome",619,5,"0.6029616457186685","   Musculoskeletal Diseases"]
["C0265255","Trichorhinophalangeal syndrome",619,5,"0.8493397346442323"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162","   Musculoskeletal Diseases"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162","   Skin and Connective Tissue Diseases"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162","   Musculoskeletal Diseases"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162","   Skin and Connective Tissue Diseases"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162","   Pathological Conditions, Signs and Symptoms"]
["C1860826","Coxa Magna",619,5,"0.9269340348085162","   Musculoskeletal Diseases"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002","   Musculoskeletal Diseases"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002","   Nutritional and Metabolic Diseases"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002","   Endocrine System Diseases"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692","   Musculoskeletal Diseases"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4022179","Stenosis of the medullary cavity of the long bones",615,5,"0.47691330616982575"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747","   Musculoskeletal Diseases"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747","   Nutritional and Metabolic Diseases"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747","   Endocrine System Diseases"]
["C0021099","Impetigo",596,5,"0.7394560861547314","   Infections"]
["C0021099","Impetigo",596,5,"0.7394560861547314","   Skin and Connective Tissue Diseases"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775","   Stomatognathic Diseases"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775","   Respiratory Tract Diseases"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775","   Otorhinolaryngologic Diseases"]
["C0036285","Scarlet Fever",596,5,"0.7394560861547314","   Infections"]
["C0036689","Streptococcal sore throat",596,5,"0.4528640899527099"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979","   Infections"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979","   Musculoskeletal Diseases"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","   Male Urogenital Diseases"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","   Nutritional and Metabolic Diseases"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842","   Endocrine System Diseases"]
["C1291314","Deficiency of monooxygenase",594,5,"0.638464011983188"]
["C1291557","Deficiency of lyase",594,5,"0.8755887536869028"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","   Male Urogenital Diseases"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","   Female Urogenital Diseases and Pregnancy Complications"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","   Nutritional and Metabolic Diseases"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017","   Endocrine System Diseases"]
["C4329212","17-Alpha-Hydroxylase/17,20 Lyase Deficiency",594,5,"0.8972134193349166"]
["C0043325","Xanthomatosis",584,5,"-0.28826065805726636","   Nutritional and Metabolic Diseases"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334"]
["C0302314","Xanthoma",584,5,"0.23136353835168352","   Nutritional and Metabolic Diseases"]
["C4280602","Xanthelasma of periocular region",584,5,"0.38020978048416476"]
["C0004608","Retinopathy background",579,5,"0.5498824121417797"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859","   Eye Diseases"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0423361","Posterior Vitreous Detachment",579,5,"0.2491610862225742","   Eye Diseases"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708","   Musculoskeletal Diseases"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708","   Eye Diseases"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708","   Nutritional and Metabolic Diseases"]
["C4072980","Exudative vitreoretinopathy",579,5,"0.6501299474582313"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835","   Nervous System Diseases"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835","   Eye Diseases"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835","   Pathological Conditions, Signs and Symptoms"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065","   Nervous System Diseases"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065","   Eye Diseases"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065","   Pathological Conditions, Signs and Symptoms"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054","   Nervous System Diseases"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054","   Eye Diseases"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054","   Pathological Conditions, Signs and Symptoms"]
["C3887937","CONE DYSTROPHY 5, X-LINKED",569,5,"0.6526334772650098"]
["C3887938","COLORBLINDNESS, PARTIAL, DEUTAN SERIES",569,5,"0.6411923191078364"]
["C0024586","Malignant Carcinoid Syndrome",542,5,"1.0","   Neoplasms"]
["C0342777","Succinate-coenzyme Q reductase deficiency",542,5,"1.0"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","   Neoplasms"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","   Otorhinolaryngologic Diseases"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","   Nervous System Diseases"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3532243","Fatal infantile mitochondrial cardiomyopathy",542,5,"1.0"]
["C3554516","COWDEN SYNDROME 3",542,5,"1.0"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587","   Skin and Connective Tissue Diseases"]
["C0239816","Hand eczema",529,5,"0.8374027201381419"]
["C1304345","Occupational irritant contact dermatitis",529,5,"0.8520279601616959"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959","   Skin and Connective Tissue Diseases"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959","   Immune System Diseases"]
["C3662483","Allergic sensitization",529,5,"0.36999745758899866"]
["C0857069","Chronic candidiasis",526,5,"1.0"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0","   Endocrine System Diseases"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0","   Immune System Diseases"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0","   Endocrine System Diseases"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0","   Immune System Diseases"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0","   Endocrine System Diseases"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0","   Immune System Diseases"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0","   Endocrine System Diseases"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0","   Immune System Diseases"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258","   Musculoskeletal Diseases"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","   Musculoskeletal Diseases"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732","   Musculoskeletal Diseases"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299","   Musculoskeletal Diseases"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423","   Musculoskeletal Diseases"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776","   Nervous System Diseases"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776","   Eye Diseases"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252","   Nervous System Diseases"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252","   Eye Diseases"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264","   Nervous System Diseases"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264","   Eye Diseases"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083","   Nervous System Diseases"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083","   Eye Diseases"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574","   Nervous System Diseases"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574","   Eye Diseases"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924","   Skin and Connective Tissue Diseases"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978","   Skin and Connective Tissue Diseases"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644","   Skin and Connective Tissue Diseases"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572","   Neoplasms"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572","   Skin and Connective Tissue Diseases"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866","   Skin and Connective Tissue Diseases"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","   Neoplasms"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","   Nervous System Diseases"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568","   Neoplasms"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568","   Nervous System Diseases"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458","   Neoplasms"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458","   Nervous System Diseases"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Neoplasms"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Musculoskeletal Diseases"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Nervous System Diseases"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Cardiovascular Diseases"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819","   Skin and Connective Tissue Diseases"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Neoplasms"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Musculoskeletal Diseases"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Nervous System Diseases"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Pathological Conditions, Signs and Symptoms"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Behavior and Behavior Mechanisms"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458","   Mental Disorders"]
["C0019295","Inguinal Hernia, Direct",496,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0019296","Inguinal Hernia, Indirect",496,5,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0","   Musculoskeletal Diseases"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0","   Cardiovascular Diseases"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674876","LOEYS-DIETZ SYNDROME, TYPE 1B",496,5,"1.0"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0","   Musculoskeletal Diseases"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0","   Cardiovascular Diseases"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0","   Skin and Connective Tissue Diseases"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845","   Skin and Connective Tissue Diseases"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845","   Nutritional and Metabolic Diseases"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379","   Skin and Connective Tissue Diseases"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379","   Nutritional and Metabolic Diseases"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896","   Skin and Connective Tissue Diseases"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896","   Nutritional and Metabolic Diseases"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","   Skin and Connective Tissue Diseases"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","   Nutritional and Metabolic Diseases"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277","   Skin and Connective Tissue Diseases"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277","   Nutritional and Metabolic Diseases"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899","   Hemic and Lymphatic Diseases"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899","   Immune System Diseases"]
["C0333997","Lymphoid hyperplasia",486,5,"0.4251036218063374"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216","   Hemic and Lymphatic Diseases"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216","   Immune System Diseases"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758","   Hemic and Lymphatic Diseases"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758","   Immune System Diseases"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244","   Hemic and Lymphatic Diseases"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244","   Immune System Diseases"]
["C0281967","Retinal infarction",471,5,"0.9949322243477006"]
["C1846837","Aortic Aneurysm, Familial Thoracic 2",471,5,"0.9949322243477006","   Cardiovascular Diseases"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447","   Cardiovascular Diseases"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447","   Skin and Connective Tissue Diseases"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447","   Pathological Conditions, Signs and Symptoms"]
["C3151201","MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME",471,5,"0.9949322243477006"]
["C3279690","MOYAMOYA DISEASE 5",471,5,"0.9949322243477006"]
["C0012819","Diverticular disease of colon",459,5,"0.3302093137892965","   Digestive System Diseases"]
["C0149754","Cellulitis of periorbital region",459,5,"0.3207606961331051"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417","   Nervous System Diseases"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417","   Cardiovascular Diseases"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293"]
["C4025788","Nystagmus-induced head nodding",459,5,"0.4324756212869811"]
["C0021933","Intussusception",442,5,"0.1303982126527871","   Digestive System Diseases"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","   Neoplasms"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","   Digestive System Diseases"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","   Skin and Connective Tissue Diseases"]
["C0282207","Cronkhite-Canada Syndrome",442,5,"0.7870149386653003","   Digestive System Diseases"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682","   Digestive System Diseases"]
["C1333088","Colonic hamartomatous polyps",442,5,"0.7870149386653003"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383","   Infections"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383","   Musculoskeletal Diseases"]
["C0175708","Chronic rheumatic heart disease",421,5,"0.7649934920516644"]
["C0543698","Hypersensitive syndrome",421,5,"0.6531657451922412"]
["C2363973","Chronic thromboembolic pulmonary hypertension",421,5,"0.7649934920516644"]
["C3697982","Pulmonary arterial hypertension associated with connective tissue disease",421,5,"0.7649934920516644"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188","   Hemic and Lymphatic Diseases"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188","   Immune System Diseases"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991","   Hemic and Lymphatic Diseases"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991","   Immune System Diseases"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077","   Hemic and Lymphatic Diseases"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077","   Immune System Diseases"]
["C1866121","Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive",404,5,"0.9118170574071562"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723","   Digestive System Diseases"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723","   Nervous System Diseases"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Otorhinolaryngologic Diseases"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Nervous System Diseases"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Eye Diseases"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Skin and Connective Tissue Diseases"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333","   Pathological Conditions, Signs and Symptoms"]
["C2700265","Waardenburg Syndrome Type 2",397,5,"0.038494415989644315","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2700405","WAARDENBURG SYNDROME, TYPE IIE",397,5,"0.7457627395862221","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832","   Digestive System Diseases"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1504404","Hippocampal sclerosis",377,5,"0.08852767818615044"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466"]
["C3539123","CEROID LIPOFUSCINOSIS, NEURONAL, 11",377,5,"0.8127624006985731"]
["C4022574","Limb apraxia",377,5,"0.8127624006985731"]
["C4275079","Posterior cortical atrophy syndrome",377,5,"0.8127624006985731"]
["C0270951","Ocular muscular dystrophy",375,5,"0.9975255625889035"]
["C2875311","Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy",375,5,"0.9975255625889035"]
["C2875312","Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]",375,5,"0.9975255625889035"]
["C2875313","Severe [Duchenne] muscular dystrophy",375,5,"0.9897582487876501"]
["C3264046","Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber",375,5,"0.9975255625889035"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085","   Hemic and Lymphatic Diseases"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204","   Hemic and Lymphatic Diseases"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667","   Hemic and Lymphatic Diseases"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987","   Hemic and Lymphatic Diseases"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249","   Hemic and Lymphatic Diseases"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083","   Skin and Connective Tissue Diseases"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716","   Skin and Connective Tissue Diseases"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365","   Otorhinolaryngologic Diseases"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365","   Nervous System Diseases"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365","   Pathological Conditions, Signs and Symptoms"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365","   Otorhinolaryngologic Diseases"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365","   Nervous System Diseases"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365","   Pathological Conditions, Signs and Symptoms"]
["C4021534","Adult onset sensorineural hearing impairment",350,5,"0.6684020847974365"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706","   Nervous System Diseases"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706","   Mental Disorders"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815","   Nervous System Diseases"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815","   Pathological Conditions, Signs and Symptoms"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815","   Mental Disorders"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815","   Nervous System Diseases"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815","   Pathological Conditions, Signs and Symptoms"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815","   Behavior and Behavior Mechanisms"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815","   Mental Disorders"]
["C3151038","ACNE INVERSA, FAMILIAL, 3",344,5,"0.9996247206634815"]
["C3160720","Cardiomyopathy, Dilated, 1u",344,5,"0.9996247206634815","   Cardiovascular Diseases"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Musculoskeletal Diseases"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Otorhinolaryngologic Diseases"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Nervous System Diseases"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Pathological Conditions, Signs and Symptoms"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Behavior and Behavior Mechanisms"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208","   Mental Disorders"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Musculoskeletal Diseases"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Otorhinolaryngologic Diseases"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Nervous System Diseases"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Pathological Conditions, Signs and Symptoms"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Behavior and Behavior Mechanisms"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208","   Mental Disorders"]
["C2829265","DEAFNESS, AUTOSOMAL RECESSIVE 86",327,5,"0.9411293476366208"]
["C3809173","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16",327,5,"0.6826169017122271"]
["C3892048","DEAFNESS, AUTOSOMAL DOMINANT 65",327,5,"0.9411293476366208"]
["C0023600","Leydig cell hyperplasia",308,5,"0.9936041361873322"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322","   Nervous System Diseases"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322","   Cardiovascular Diseases"]
["C0342386","Follicle stimulating hormone deficiency",308,5,"0.9936041361873322"]
["C0403824","Teratozoospermia",308,5,"0.9753882553379186","   Male Urogenital Diseases"]
["C1856716","Follicle-stimulating hormone deficiency, isolated",308,5,"0.9927611091750643","   Male Urogenital Diseases"]
["C0394004","Congenital non-progressive ataxia",285,5,"0.9487477937836131"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Nervous System Diseases"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Eye Diseases"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Pathological Conditions, Signs and Symptoms"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Behavior and Behavior Mechanisms"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963","   Mental Disorders"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131","   Nervous System Diseases"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585","   Nervous System Diseases"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4274987","Spinocerebellar ataxia type 29",285,5,"0.9487477937836131"]
["C0221405","Pituitary cachexia",283,5,"0.9999999999999991"]
["C0271577","Isolated gonadotropin deficiency",283,5,"0.9999999999999991"]
["C0342381","Idiopathic growth hormone deficiency",283,5,"0.9999999999999991"]
["C2874188","Isolated deficiency of pituitary hormone",283,5,"0.9999999999999991"]
["C2874190","Pituitary short stature",283,5,"0.9999999999999991"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152","   Nervous System Diseases"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152","   Cardiovascular Diseases"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785","   Nervous System Diseases"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785","   Cardiovascular Diseases"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785","   Nervous System Diseases"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785","   Cardiovascular Diseases"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785","   Nervous System Diseases"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785","   Cardiovascular Diseases"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785","   Nervous System Diseases"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785","   Cardiovascular Diseases"]
["C0008058","Chilblains",206,5,"1.0","   Wounds and Injuries"]
["C0275544","Congenital infectious disease",206,5,"1.0"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0","   Nervous System Diseases"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0","   Eye Diseases"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0","   Cardiovascular Diseases"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0","   Nutritional and Metabolic Diseases"]
["C3150315","AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",206,5,"1.0"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","   Nervous System Diseases"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","   Hemic and Lymphatic Diseases"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","   Nutritional and Metabolic Diseases"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","   Immune System Diseases"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","   Nervous System Diseases"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","   Hemic and Lymphatic Diseases"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","   Nutritional and Metabolic Diseases"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953","   Immune System Diseases"]
["C1835875","Normocytic hypoplastic anemia",203,5,"0.997303787706911"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911","   Skin and Connective Tissue Diseases"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","   Nervous System Diseases"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","   Hemic and Lymphatic Diseases"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","   Nutritional and Metabolic Diseases"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911","   Immune System Diseases"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405","   Skin and Connective Tissue Diseases"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103","   Skin and Connective Tissue Diseases"]
["C0341047","Hypertrophy of parotid gland",174,5,"0.9983831783696103"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103","   Skin and Connective Tissue Diseases"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103","   Skin and Connective Tissue Diseases"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306","   Immune System Diseases"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306","   Animal Diseases"]
["C0221028","Neonatal thrombocytopenia (disorder)",133,5,"0.8635815007906218"]
["C0598221","Hereditary protein C deficiency",133,5,"0.8635815007906218"]
["C2585959","Homozygous protein C deficiency",133,5,"0.8635815007906218"]
["C2585960","Heterozygous protein C deficiency",133,5,"0.8635815007906218"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","   Infections"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","   Skin and Connective Tissue Diseases"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498","   Hemic and Lymphatic Diseases"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765","   Musculoskeletal Diseases"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765","   Hemic and Lymphatic Diseases"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","   Female Urogenital Diseases and Pregnancy Complications"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","   Hemic and Lymphatic Diseases"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","   Immune System Diseases"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","   Pathological Conditions, Signs and Symptoms"]
["C4012050","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1",120,5,"0.7817917811240498"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695","   Male Urogenital Diseases"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695","   Female Urogenital Diseases and Pregnancy Complications"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695","   Nutritional and Metabolic Diseases"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695","   Male Urogenital Diseases"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695","   Female Urogenital Diseases and Pregnancy Complications"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893","   Male Urogenital Diseases"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893","   Female Urogenital Diseases and Pregnancy Complications"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893","   Nutritional and Metabolic Diseases"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695","   Male Urogenital Diseases"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695","   Female Urogenital Diseases and Pregnancy Complications"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695","   Nutritional and Metabolic Diseases"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251","   Male Urogenital Diseases"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251","   Female Urogenital Diseases and Pregnancy Complications"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537","   Skin and Connective Tissue Diseases"]
["C0031106","Periodontitis, Juvenile",96,5,"0.9124733506672643","   Stomatognathic Diseases"]
["C0600298","Periodontosis",96,5,"0.9774677082030622","   Stomatognathic Diseases"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622","   Musculoskeletal Diseases"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622","   Skin and Connective Tissue Diseases"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622","   Skin and Connective Tissue Diseases"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719","   Infections"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719","   Musculoskeletal Diseases"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296","   Infections"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296","   Musculoskeletal Diseases"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353","   Infections"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353","   Male Urogenital Diseases"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353","   Female Urogenital Diseases and Pregnancy Complications"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074","   Infections"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074","   Musculoskeletal Diseases"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074","   Infections"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074","   Musculoskeletal Diseases"]
["C0155616","Secondary hypertension",49,5,"0.8223626374010304"]
["C0264638","Low-renin essential hypertension",49,5,"0.8223626374010304"]
["C0264641","Endocrine hypertension",49,5,"0.8223626374010304"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368","   Male Urogenital Diseases"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368","   Hemic and Lymphatic Diseases"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368","   Pathological Conditions, Signs and Symptoms"]
["C4511620","Autosomal dominant tubulointerstitial kidney disease",49,5,"0.1442801985459706"]
["C0730278","Severe nonproliferative diabetic retinopathy",43,5,"0.9843506110917806"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156","   Hemic and Lymphatic Diseases"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806","   Musculoskeletal Diseases"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806","   Nutritional and Metabolic Diseases"]
["C3554321","BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",43,5,"0.9843506110917806"]
["C4225270","KOSAKI OVERGROWTH SYNDROME",43,5,"0.9843506110917806"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122","   Nervous System Diseases"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122","   Cardiovascular Diseases"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414","   Nervous System Diseases"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414","   Pathological Conditions, Signs and Symptoms"]
["C1852242","Nonarteritic anterior ischemic optic neuropathy (NAION)",41,5,"0.8646401604930963"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694"]
["C4024935","Subcortical dementia",41,5,"0.8646401604930963"]
["C2584611","Hereditary protein S deficiency",35,5,"1.0"]
["C3278211","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",35,5,"1.0"]
["C3281092","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",35,5,"1.0"]
["C3502051","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",35,5,"1.0","   Hemic and Lymphatic Diseases"]
["C3502052","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",35,5,"1.0","   Hemic and Lymphatic Diseases"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282","   Infections"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282","   Cardiovascular Diseases"]
["C0027013","Myeloid Metaplasia",33,5,"0.6234898378908553"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282"]
["C4022560","Splanchnic vein thrombosis",33,5,"0.6234898378908553"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","   Cardiovascular Diseases"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","   Hemic and Lymphatic Diseases"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","   Immune System Diseases"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","   Pathological Conditions, Signs and Symptoms"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872","   Cardiovascular Diseases"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872","   Hemic and Lymphatic Diseases"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872","   Immune System Diseases"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872","   Pathological Conditions, Signs and Symptoms"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872","   Cardiovascular Diseases"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872","   Hemic and Lymphatic Diseases"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872","   Immune System Diseases"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872","   Pathological Conditions, Signs and Symptoms"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872","   Cardiovascular Diseases"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872","   Hemic and Lymphatic Diseases"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872","   Immune System Diseases"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872","   Pathological Conditions, Signs and Symptoms"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872","   Cardiovascular Diseases"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872","   Hemic and Lymphatic Diseases"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872","   Immune System Diseases"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872","   Pathological Conditions, Signs and Symptoms"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389","   Hemic and Lymphatic Diseases"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118","   Skin and Connective Tissue Diseases"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398","   Hemic and Lymphatic Diseases"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0338573","Cerebral venous sinus thrombosis",18,5,"0.8268104579573398"]
["C3203356","Factor II deficiency",18,5,"0.8268104579573398"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301","   Digestive System Diseases"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301","   Cardiovascular Diseases"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582","   Digestive System Diseases"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582","   Cardiovascular Diseases"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582","   Digestive System Diseases"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582","   Cardiovascular Diseases"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582","   Digestive System Diseases"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582","   Cardiovascular Diseases"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582","   Digestive System Diseases"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582","   Cardiovascular Diseases"]
["C0268123","Muscle AMP deaminase deficiency",2139,4,"0.7930888377878672"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026","   Musculoskeletal Diseases"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026","   Nervous System Diseases"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834","   Nutritional and Metabolic Diseases"]
["C3714933","MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY",2139,4,"0.549760968191284"]
["C0162677","Caliciviridae Infections",2117,4,"1.0"]
["C0206044","Infections, Calicivirus",2117,4,"1.0"]
["C2712971","Enteritis due to Norovirus",2117,4,"1.0"]
["C3534585","Infection caused by Norovirus",2117,4,"1.0"]
["C0477729","Other chronic tubulo-interstitial nephritis",2104,4,"1.0"]
["C1392616","Nonobstructive chronic pyelonephritis NOS",2104,4,"1.0"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0","   Male Urogenital Diseases"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C3553774","INTERSTITIAL NEPHRITIS, KARYOMEGALIC",2104,4,"1.0"]
["C0154207","Other specified disorders of adrenal gland",2093,4,"1.0"]
["C0271749","Abnormality of cortisol-binding globulin",2093,4,"1.0"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1969107","Corticosteroid-Binding Globulin, Elevated",2093,4,"1.0","   Hemic and Lymphatic Diseases"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0","   Nervous System Diseases"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0","   Wounds and Injuries"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0","   Nervous System Diseases"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0","   Wounds and Injuries"]
["C3887992","THYROTROPIN-RELEASING HORMONE DEFICIENCY",2066,4,"1.0"]
["C0014556","Epilepsy, Temporal Lobe",2052,4,"0.6995476836933364","   Nervous System Diseases"]
["C0014558","Uncinate Epilepsy",2052,4,"0.90625446164869","   Nervous System Diseases"]
["C0393672","Epilepsy, Benign Psychomotor, Childhood",2052,4,"0.90625446164869","   Nervous System Diseases"]
["C0393682","Epilepsy, Lateral Temporal",2052,4,"0.9057152939271543","   Nervous System Diseases"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549","   Nervous System Diseases"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549","   Pathological Conditions, Signs and Symptoms"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091","   Nervous System Diseases"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549","   Nervous System Diseases"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044","   Nervous System Diseases"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433","   Nervous System Diseases"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433","   Chemically-Induced Disorders"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433","   Mental Disorders"]
["C0009088","Cluster Headache",2026,4,"0.10847072985948918","   Nervous System Diseases"]
["C0854739","Advanced sleep phase",2026,4,"0.7471456632218765"]
["C0854740","Delayed sleep phase",2026,4,"0.7471456632218765"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","   Musculoskeletal Diseases"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","   Nervous System Diseases"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","   Endocrine System Diseases"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422","   Pathological Conditions, Signs and Symptoms"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981","   Musculoskeletal Diseases"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981","   Endocrine System Diseases"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","   Musculoskeletal Diseases"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","   Nervous System Diseases"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","   Endocrine System Diseases"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735","   Pathological Conditions, Signs and Symptoms"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","   Musculoskeletal Diseases"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","   Nervous System Diseases"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","   Endocrine System Diseases"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259","   Pathological Conditions, Signs and Symptoms"]
["C0265241","Franceschetti-Klein syndrome",2006,4,"0.5350980980337097"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804","   Musculoskeletal Diseases"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150983","TREACHER COLLINS SYNDROME 2",2006,4,"0.18259377074664826"]
["C4225305","LEUKODYSTROPHY, HYPOMYELINATING, 11",2006,4,"0.43718790385001804"]
["C1834659","Muscular dystrophy, limb-girdle, type 1A",2002,4,"1.0"]
["C1836607","MYOTILINOPATHY",2002,4,"1.0"]
["C1866785","Spheroid body myopathy",2002,4,"1.0","   Musculoskeletal Diseases"]
["C1866785","Spheroid body myopathy",2002,4,"1.0","   Nervous System Diseases"]
["C3714934","MYOPATHY, MYOFIBRILLAR, 3",2002,4,"1.0"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027","   Musculoskeletal Diseases"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027","   Digestive System Diseases"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027","   Immune System Diseases"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386","   Musculoskeletal Diseases"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195","   Musculoskeletal Diseases"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195","   Endocrine System Diseases"]
["C4479357","ANAUXETIC DYSPLASIA 2",1965,4,"0.20955860028436096"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0","   Cardiovascular Diseases"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0","   Cardiovascular Diseases"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150681","CARDIOMYOPATHY, DILATED, 1R",1955,4,"1.0"]
["C3150682","LEFT VENTRICULAR NONCOMPACTION 4",1955,4,"1.0"]
["C1864171","Peroxisome Biogenesis Disorder, Complementation Group 12",1937,4,"1.0"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0","   Nutritional and Metabolic Diseases"]
["C3553999","PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)",1937,4,"1.0"]
["C4479254","PEROXISOME BIOGENESIS DISORDER 10B",1937,4,"1.0"]
["C0040820","Trematode Infections",1925,4,"0.18360826675399552"]
["C0151740","Intracranial Hypertension",1925,4,"-0.006788146055624757","   Nervous System Diseases"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014","   Neoplasms"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014","   Digestive System Diseases"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014","   Nervous System Diseases"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026","   Neoplasms"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026","   Digestive System Diseases"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026","   Nutritional and Metabolic Diseases"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453","   Nervous System Diseases"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453","   Mental Disorders"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804","   Nervous System Diseases"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804","   Mental Disorders"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804","   Nervous System Diseases"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804","   Mental Disorders"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284","   Nervous System Diseases"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284","   Mental Disorders"]
["C3810212","JOUBERT SYNDROME 21",1902,4,"-0.0016848070386000556"]
["C4084822","JOUBERT SYNDROME 23",1902,4,"0.5096217763521104"]
["C4225286","SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",1902,4,"0.5096217763521104"]
["C4518774","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",1902,4,"0.5516313445750163"]
["C0014544","Epilepsy",1901,4,"0.5069372905650225","   Nervous System Diseases"]
["C0086237","Epilepsy, Cryptogenic",1901,4,"0.5300347625933439","   Nervous System Diseases"]
["C0543888","Epileptic encephalopathy",1901,4,"-0.028323523327071172"]
["C0751111","Awakening Epilepsy",1901,4,"0.5298326275394245","   Nervous System Diseases"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878","   Musculoskeletal Diseases"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878","   Nervous System Diseases"]
["C1864902","Hyperinsulinemic hypoglycemia, familial, 7",1872,4,"0.8835242099319878","   Nutritional and Metabolic Diseases"]
["C1864904","Exercise-induced hyperinsulinism",1872,4,"0.6838780716446347"]
["C4015186","MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY",1872,4,"0.8835242099319878"]
["C0029410","Osteoarthritis of hip",1871,4,"0.6120331263438924","   Musculoskeletal Diseases"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982","   Musculoskeletal Diseases"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851537","Fairbank disease",1871,4,"0.8840146461282982"]
["C1851538","Epiphyseal Dysplasia, Ribbing Type",1871,4,"0.8840146461282982"]
["C0015652","Fascioliasis",1867,4,"0.6277408674588577","   Digestive System Diseases"]
["C0268576","Hyperleucinemia",1867,4,"0.3830044297417646"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182","   Skin and Connective Tissue Diseases"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182","   Pathological Conditions, Signs and Symptoms"]
["C1847555","Hyperinsulinemic hypoglycemia, familial, 6",1867,4,"0.3830044297417646","   Nutritional and Metabolic Diseases"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787","   Eye Diseases"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834330","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",1858,4,"0.4806017775377787","   Eye Diseases"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749","   Eye Diseases"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024765","Peripapillary chorioretinal atrophy",1858,4,"0.6666053456996756"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Otorhinolaryngologic Diseases"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Nervous System Diseases"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Eye Diseases"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Pathological Conditions, Signs and Symptoms"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Behavior and Behavior Mechanisms"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324","   Mental Disorders"]
["C3809004","CATARACT 19, MULTIPLE TYPES",1841,4,"0.2355600140911948"]
["C3888097","CATARACT 21, MULTIPLE TYPES",1841,4,"0.4010445085297324"]
["C4021568","Cortical pulverulent cataract",1841,4,"0.6346485928827926"]
["C0152439","Retinoschisis",1820,4,"0.9186218991170633","   Eye Diseases"]
["C0271091","Retinoschisis, Juvenile, X-Linked",1820,4,"0.967418984468633","   Eye Diseases"]
["C1137478","Retinoschisis, Degenerative",1820,4,"0.9750308190586006","   Eye Diseases"]
["C3714753","RETINOSCHISIS 1, X-LINKED, JUVENILE",1820,4,"0.9726649304899302"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0","   Otorhinolaryngologic Diseases"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0","   Nervous System Diseases"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1861826","Cataract, Nuclear Total",1817,4,"1.0"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Otorhinolaryngologic Diseases"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Nervous System Diseases"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Eye Diseases"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Male Urogenital Diseases"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Nutritional and Metabolic Diseases"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0","   Endocrine System Diseases"]
["C3805412","CATARACT 41",1817,4,"1.0"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","   Otorhinolaryngologic Diseases"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","   Nervous System Diseases"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","   Skin and Connective Tissue Diseases"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","   Nutritional and Metabolic Diseases"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519","   Pathological Conditions, Signs and Symptoms"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259","   Musculoskeletal Diseases"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259","   Nervous System Diseases"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259","   Nutritional and Metabolic Diseases"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Digestive System Diseases"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Male Urogenital Diseases"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Female Urogenital Diseases and Pregnancy Complications"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Nutritional and Metabolic Diseases"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959","   Pathological Conditions, Signs and Symptoms"]
["C3541471","MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",1809,4,"0.9878541601856959"]
["C0280962","Bone Marrow Suppression",1796,4,"1.0"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0","   Nutritional and Metabolic Diseases"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0","   Immune System Diseases"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0","   Chemically-Induced Disorders"]
["C0948168","Bone marrow toxicity",1796,4,"1.0"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0","   Nutritional and Metabolic Diseases"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0","   Immune System Diseases"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0","   Chemically-Induced Disorders"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968","   Otorhinolaryngologic Diseases"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968","   Nervous System Diseases"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968","   Pathological Conditions, Signs and Symptoms"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968","   Otorhinolaryngologic Diseases"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968","   Nervous System Diseases"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968","   Pathological Conditions, Signs and Symptoms"]
["C1846148","Sketetal dysplasia coarse facies mental retardation",1788,4,"0.9741494579900968"]
["C3151753","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6",1788,4,"0.9244309229690109"]
["C0017574","Gingivitis",1748,4,"0.04739206181505732","   Stomatognathic Diseases"]
["C0037856","Spermatic Cord Torsion",1748,4,"0.6181679809665507","   Male Urogenital Diseases"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469","   Cardiovascular Diseases"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469","   Hemic and Lymphatic Diseases"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469","   Skin and Connective Tissue Diseases"]
["C3809210","EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",1748,4,"0.43588492187803807"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0","   Otorhinolaryngologic Diseases"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0","   Nervous System Diseases"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0","   Otorhinolaryngologic Diseases"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0","   Nervous System Diseases"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3149009","DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",1746,4,"1.0"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0","   Otorhinolaryngologic Diseases"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0","   Nervous System Diseases"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0","   Cardiovascular Diseases"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0271514","Low frequency deafness",1745,4,"0.347282503437948"]
["C0452138","Sensorineural hearing loss, bilateral",1745,4,"-0.20938443561920492"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353","   Otorhinolaryngologic Diseases"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353","   Nervous System Diseases"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353","   Pathological Conditions, Signs and Symptoms"]
["C4225261","SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",1745,4,"0.44422495207280704"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Male Urogenital Diseases"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Female Urogenital Diseases and Pregnancy Complications"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Skin and Connective Tissue Diseases"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Nutritional and Metabolic Diseases"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Endocrine System Diseases"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728","   Pathological Conditions, Signs and Symptoms"]
["C3551716","CORTISONE REDUCTASE DEFICIENCY 1",1729,4,"0.16236178820229905"]
["C3553382","CORTISONE REDUCTASE DEFICIENCY 2",1729,4,"0.5058751906815325"]
["C4329210","11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency",1729,4,"0.5058751906815325"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695","   Nervous System Diseases"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0262404","Cerebellar degeneration",1722,4,"0.7031135972786946"]
["C0740279","Cerebellar atrophy",1722,4,"0.7005062606470862"]
["C4020873","Infratentorial atrophy",1722,4,"0.6978889253026573"]
["C1840061","SMALL PATELLA SYNDROME",1717,4,"1.0","   Musculoskeletal Diseases"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0","   Musculoskeletal Diseases"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3150607","CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME",1717,4,"1.0"]
["C3150880","CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME",1717,4,"1.0"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989","   Nervous System Diseases"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488","   Nervous System Diseases"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488","   Nervous System Diseases"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488","   Nervous System Diseases"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409","   Nervous System Diseases"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409","   Nutritional and Metabolic Diseases"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856","   Nervous System Diseases"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856","   Nutritional and Metabolic Diseases"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038","   Nervous System Diseases"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038","   Nutritional and Metabolic Diseases"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856","   Nervous System Diseases"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856","   Nutritional and Metabolic Diseases"]
["C1863998","Peroxisome Biogenesis Disorder, Complementation Group 9",1681,4,"0.9927955443639027"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419","   Nutritional and Metabolic Diseases"]
["C3553959","PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)",1681,4,"0.9927955443639027"]
["C3553960","PEROXISOME BIOGENESIS DISORDER 8B",1681,4,"0.9927955443639027"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Musculoskeletal Diseases"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Nervous System Diseases"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Male Urogenital Diseases"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Female Urogenital Diseases and Pregnancy Complications"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Nutritional and Metabolic Diseases"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Pathological Conditions, Signs and Symptoms"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Behavior and Behavior Mechanisms"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615","   Mental Disorders"]
["C4304537","2p21 microdeletion syndrome",1675,4,"0.45075156801676186"]
["C4479088","MYASTHENIC SYNDROME, CONGENITAL, 22",1675,4,"0.19642155432468647"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124","   Digestive System Diseases"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124","   Skin and Connective Tissue Diseases"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124","   Nutritional and Metabolic Diseases"]
["C0268322","Chester-type porphyria",1673,4,"0.998639274498678"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678","   Digestive System Diseases"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678","   Skin and Connective Tissue Diseases"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678","   Nutritional and Metabolic Diseases"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678","   Digestive System Diseases"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678","   Skin and Connective Tissue Diseases"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678","   Nutritional and Metabolic Diseases"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031","   Musculoskeletal Diseases"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031","   Nutritional and Metabolic Diseases"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949","   Musculoskeletal Diseases"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949","   Nutritional and Metabolic Diseases"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931","   Musculoskeletal Diseases"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931","   Nutritional and Metabolic Diseases"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838","   Musculoskeletal Diseases"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838","   Nutritional and Metabolic Diseases"]
["C1853576","Diamond-Blackfan Anemia With Microtia And Cleft Palate",1662,4,"0.3801539584392106"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562","   Hemic and Lymphatic Diseases"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225411","DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C4225422","DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957","   Nervous System Diseases"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957","   Pathological Conditions, Signs and Symptoms"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957","   Behavior and Behavior Mechanisms"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957","   Mental Disorders"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746","   Nervous System Diseases"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746","   Pathological Conditions, Signs and Symptoms"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746","   Behavior and Behavior Mechanisms"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746","   Mental Disorders"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174","   Nervous System Diseases"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174","   Pathological Conditions, Signs and Symptoms"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174","   Behavior and Behavior Mechanisms"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174","   Mental Disorders"]
["C3808977","CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4",1652,4,"0.513711257906384"]
["C3539168","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",1638,4,"0.9950495777552114"]
["C3553950","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",1638,4,"0.9983473780603996"]
["C3553951","PEROXISOME BIOGENESIS DISORDER 7B",1638,4,"0.9983473780603996"]
["C3888385","PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)",1638,4,"0.9983473780603996"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982","   Skin and Connective Tissue Diseases"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253","   Skin and Connective Tissue Diseases"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673","   Skin and Connective Tissue Diseases"]
["C4310710","PEELING SKIN SYNDROME 5",1634,4,"0.19567187405639985"]
["C0085661","Onycholysis",1633,4,"0.024481775884359718","   Skin and Connective Tissue Diseases"]
["C1840299","Hypotrichosis Simplex of Scalp",1633,4,"0.3757649689346729","   Skin and Connective Tissue Diseases"]
["C3151432","HYPOTRICHOSIS 3",1633,4,"0.5011821529645496"]
["C3554117","ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",1633,4,"0.5011821529645496"]
["C0038395","Streptococcal Infections",1632,4,"0.869913117644807","   Infections"]
["C0477316","Other specified coagulation defects",1632,4,"0.9667125729033856"]
["C2752081","ALPHA-2-PLASMIN INHIBITOR DEFICIENCY",1632,4,"0.9667125729033856","   Hemic and Lymphatic Diseases"]
["C3489734","Anti-plasmin deficiency, congenital",1632,4,"0.9667125729033856","   Hemic and Lymphatic Diseases"]
["C0235927","Vestibulocerebellar ataxia",1631,4,"0.6508862232903943"]
["C1837007","DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C3149566","DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C4015050","DEAFNESS, AUTOSOMAL RECESSIVE 103",1631,4,"0.2208888695984414"]
["C0454455","Mirror movements disorder",1630,4,"0.19435850177653452"]
["C3281089","MIRROR MOVEMENTS 2",1630,4,"0.40235211863948145"]
["C4284093","FANCONI ANEMIA, COMPLEMENTATION GROUP R",1630,4,"0.40235211863948145"]
["C4479640","GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2",1630,4,"0.02990250378864007"]
["C0342776","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency",1618,4,"0.25523039551124216"]
["C1838979","MITOCHONDRIAL COMPLEX I DEFICIENCY",1618,4,"0.6897253478517794","   Nutritional and Metabolic Diseases"]
["C1855020","Acute necrotizing encephalopathy",1618,4,"0.583536851355696"]
["C2936907","NADH:Q(1) Oxidoreductase deficiency",1618,4,"0.6809300075488732"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577","   Musculoskeletal Diseases"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577","   Skin and Connective Tissue Diseases"]
["C3280182","ADAMS-OLIVER SYNDROME 2",1612,4,"0.11945273048497816"]
["C3809092","ADAMS-OLIVER SYNDROME 4",1612,4,"0.14968814822119603"]
["C4225271","ADAMS-OLIVER SYNDROME 6",1612,4,"0.1448909977210813"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583","   Nervous System Diseases"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583","   Occupational Diseases"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583","   Mental Disorders"]
["C3807327","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",1607,4,"0.20439008138949824"]
["C3808874","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",1607,4,"0.18234632393097386"]
["C4225169","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",1607,4,"0.1608018100036085"]
["C0270612","Leukoencephalopathies",1606,4,"0.1354334035343468","   Nervous System Diseases"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693","   Nervous System Diseases"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693","   Female Urogenital Diseases and Pregnancy Complications"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693","   Endocrine System Diseases"]
["C1858991","Childhood Ataxia with Central Nervous System Hypomyelinization",1606,4,"0.6702942031271522","   Nervous System Diseases"]
["C2960129","Vanishing white matter disease",1606,4,"0.5511014316085664"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985","   Male Urogenital Diseases"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985","   Female Urogenital Diseases and Pregnancy Complications"]
["C2673883","RENAL-HEPATIC-PANCREATIC DYSPLASIA",1582,4,"0.5605354023863534"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294","   Neoplasms"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294","   Digestive System Diseases"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294","   Nervous System Diseases"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3715199","RENAL-HEPATIC-PANCREATIC DYSPLASIA 1",1582,4,"0.8928033303679691"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833","   Nutritional and Metabolic Diseases"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736","   Nutritional and Metabolic Diseases"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736","   Nutritional and Metabolic Diseases"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736","   Nutritional and Metabolic Diseases"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","   Nutritional and Metabolic Diseases"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","   Endocrine System Diseases"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","   Immune System Diseases"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378","   Nutritional and Metabolic Diseases"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378","   Endocrine System Diseases"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378","   Immune System Diseases"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564","   Nutritional and Metabolic Diseases"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564","   Endocrine System Diseases"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564","   Immune System Diseases"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601","   Nutritional and Metabolic Diseases"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601","   Endocrine System Diseases"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601","   Immune System Diseases"]
["C0276096","Mastitis-metritis-agalactia syndrome",1556,4,"0.9271554973832203"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067","   Nutritional and Metabolic Diseases"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636","   Nutritional and Metabolic Diseases"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636","   Nutritional and Metabolic Diseases"]
["C0271165","Punctate cataract",1542,4,"0.47328110646957205"]
["C1832175","Cataract, Congenital, Cerulean Type, 2",1542,4,"-0.10506018421842693","   Eye Diseases"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205","   Musculoskeletal Diseases"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4023734","Sutural cataract",1542,4,"0.0"]
["C0034067","Pulmonary Emphysema",1528,4,"0.8699255454217851","   Respiratory Tract Diseases"]
["C0221227","Centriacinar Emphysema",1528,4,"0.9580362960754452","   Respiratory Tract Diseases"]
["C0264393","Panacinar Emphysema",1528,4,"0.9590502617079391","   Respiratory Tract Diseases"]
["C2350878","Focal Emphysema",1528,4,"0.9580362960754452","   Respiratory Tract Diseases"]
["C0014799","Erythroderma, Maculopapular",1505,4,"0.9999999999999991","   Skin and Connective Tissue Diseases"]
["C0030437","Parakeratosis Variegata",1505,4,"0.9999999999999991","   Skin and Connective Tissue Diseases"]
["C0030491","Parapsoriasis",1505,4,"0.9999999999999991","   Skin and Connective Tissue Diseases"]
["C0162442","Parapsoriasis en Plaques",1505,4,"0.9999999999999991","   Skin and Connective Tissue Diseases"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257","   Male Urogenital Diseases"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201","   Male Urogenital Diseases"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853","   Male Urogenital Diseases"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853","   Female Urogenital Diseases and Pregnancy Complications"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772","   Male Urogenital Diseases"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772","   Female Urogenital Diseases and Pregnancy Complications"]
["C1261175","Pontoneocerebellar hypoplasia",1477,4,"0.3620903754809383"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126","   Nervous System Diseases"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736","   Nervous System Diseases"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553449","PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",1477,4,"0.1990711850354729"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114","   Nervous System Diseases"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051","   Nervous System Diseases"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150596","MONONEUROPATHY OF THE MEDIAN NERVE, MILD",1475,4,"0.4310433328408051"]
["C4082197","Charcot-Marie-Tooth disease type 4",1475,4,"0.554045516085599"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848","   Nervous System Diseases"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848","   Nutritional and Metabolic Diseases"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872","   Nervous System Diseases"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872","   Nutritional and Metabolic Diseases"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517","   Nervous System Diseases"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517","   Nutritional and Metabolic Diseases"]
["C4020854","Neuro-degenerative disease",1464,4,"0.23052351604307295"]
["C0003851","Arteriosclerosis Obliterans",1452,4,"0.7908589129385872","   Cardiovascular Diseases"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","   Nutritional and Metabolic Diseases"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","   Endocrine System Diseases"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872","   Nutritional and Metabolic Diseases"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488","   Nutritional and Metabolic Diseases"]
["C0157743","Vibratory urticaria",1448,4,"1.0"]
["C0473546","Vibratory angioedema",1448,4,"1.0","   Cardiovascular Diseases"]
["C0473546","Vibratory angioedema",1448,4,"1.0","   Skin and Connective Tissue Diseases"]
["C0473546","Vibratory angioedema",1448,4,"1.0","   Immune System Diseases"]
["C1852145","Familial dermographism",1448,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1852145","Familial dermographism",1448,4,"1.0","   Immune System Diseases"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0","   Immune System Diseases"]
["C3278481","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",1439,4,"0.12812216106623717"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314","   Musculoskeletal Diseases"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314","   Nervous System Diseases"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314","   Eye Diseases"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4015388","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",1439,4,"0.01222619684657216"]
["C4225362","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",1439,4,"0.17655159511533985"]
["C3150275","COMPLEMENT COMPONENT 2 DEFICIENCY",1438,4,"0.20347883136266592"]
["C3809653","MACULAR DEGENERATION, AGE-RELATED, 14",1438,4,"0.7300673201333486"]
["C3809654","MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF",1438,4,"0.7300673201333486"]
["C3809950","COMPLEMENT FACTOR B DEFICIENCY",1438,4,"0.13172921248628428"]
["C0795830","CHROMOSOME 9p DELETION SYNDROME",1428,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0","   Musculoskeletal Diseases"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0","   Eye Diseases"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0","   Digestive System Diseases"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0","   Male Urogenital Diseases"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0","   Respiratory Tract Diseases"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0","   Otorhinolaryngologic Diseases"]
["C0472792","Hemolytic anemia due to hexokinase deficiency",1426,4,"1.0"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0","   Nervous System Diseases"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150343","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",1426,4,"1.0"]
["C4479526","RETINITIS PIGMENTOSA 79",1426,4,"1.0"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996","   Nutritional and Metabolic Diseases"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996","   Nutritional and Metabolic Diseases"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996","   Nutritional and Metabolic Diseases"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996","   Nutritional and Metabolic Diseases"]
["C0002886","Anemia, Macrocytic",1397,4,"0.3596136155223349","   Hemic and Lymphatic Diseases"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268","   Hemic and Lymphatic Diseases"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096","   Hemic and Lymphatic Diseases"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4021821","Abnormality of the urinary system",1397,4,"0.6598239688072091"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605","   Cardiovascular Diseases"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605","   Nutritional and Metabolic Diseases"]
["C1260873","Aortic valve disorder",1387,4,"0.5755500314962895"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152","   Cardiovascular Diseases"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4014970","ADAMS-OLIVER SYNDROME 5",1387,4,"0.5428075822644881"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629","   Nervous System Diseases"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629","   Immune System Diseases"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629","   Mental Disorders"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011","   Nervous System Diseases"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011","   Immune System Diseases"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011","   Mental Disorders"]
["C0243010","Viral Encephalitis",1385,4,"0.8925961896938558","   Nervous System Diseases"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558","   Nervous System Diseases"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558","   Immune System Diseases"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558","   Mental Disorders"]
["C0242423","Ramsay Hunt Paralysis Syndrome",1380,4,"0.847252628185406","   Nervous System Diseases"]
["C0752097","Autosomal Dominant Juvenile Parkinson Disease",1380,4,"0.847252628185406","   Nervous System Diseases"]
["C0752098","Autosomal Dominant Parkinsonism",1380,4,"0.6879675453470102","   Nervous System Diseases"]
["C0752104","Familial Juvenile Parkinsonism",1380,4,"0.847252628185406","   Nervous System Diseases"]
["C1846862","PARKINSON DISEASE 8 (disorder)",1377,4,"0.5166910906744966"]
["C3489791","Parkinson Disease, Familial, Type 1",1377,4,"0.2767184953457182","   Nervous System Diseases"]
["C4274355","Autosomal dominant late onset Parkinson disease",1377,4,"0.2586934111035029"]
["C4511452","Sporadic Parkinson disease",1377,4,"0.4095633351858349"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063","   Hemic and Lymphatic Diseases"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063","   Immune System Diseases"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656","   Hemic and Lymphatic Diseases"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656","   Immune System Diseases"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656","   Hemic and Lymphatic Diseases"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656","   Immune System Diseases"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656","   Hemic and Lymphatic Diseases"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656","   Immune System Diseases"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235","   Nutritional and Metabolic Diseases"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235","   Immune System Diseases"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891","   Nutritional and Metabolic Diseases"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891","   Immune System Diseases"]
["C2931320","T cell immunodeficiency primary",1371,4,"0.9912778369672891","   Immune System Diseases"]
["C4310768","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",1371,4,"0.9912778369672891"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","   Nervous System Diseases"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","   Male Urogenital Diseases"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","   Female Urogenital Diseases and Pregnancy Complications"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","   Pathological Conditions, Signs and Symptoms"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538","   Nervous System Diseases"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538","   Male Urogenital Diseases"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538","   Female Urogenital Diseases and Pregnancy Complications"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538","   Pathological Conditions, Signs and Symptoms"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538","   Nervous System Diseases"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538","   Male Urogenital Diseases"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538","   Female Urogenital Diseases and Pregnancy Complications"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538","   Pathological Conditions, Signs and Symptoms"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538","   Nervous System Diseases"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538","   Male Urogenital Diseases"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538","   Female Urogenital Diseases and Pregnancy Complications"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538","   Pathological Conditions, Signs and Symptoms"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375","   Male Urogenital Diseases"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375","   Nutritional and Metabolic Diseases"]
["C0341706","Glycinuria",1356,4,"0.24134093454127567"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","   Male Urogenital Diseases"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","   Female Urogenital Diseases and Pregnancy Complications"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","   Nutritional and Metabolic Diseases"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186","   Nutritional and Metabolic Diseases"]
["C0311298","Propionic acidemia, type II",1354,4,"0.8538448295626059"]
["C1306587","Acute encephalopathy",1354,4,"0.5554581171325069"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059","   Nutritional and Metabolic Diseases"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","   Nervous System Diseases"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","   Male Urogenital Diseases"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","   Female Urogenital Diseases and Pregnancy Complications"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","   Nutritional and Metabolic Diseases"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881","   Endocrine System Diseases"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859","   Male Urogenital Diseases"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859","   Female Urogenital Diseases and Pregnancy Complications"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859","   Male Urogenital Diseases"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859","   Female Urogenital Diseases and Pregnancy Complications"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3281138","CHROMOSOME 17q12 DELETION SYNDROME",1350,4,"0.6331844510250144"]
["C1832244","CARDIOMYOPATHY, DILATED, 1C (disorder)",1348,4,"1.0","   Cardiovascular Diseases"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0","   Musculoskeletal Diseases"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0","   Nervous System Diseases"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3152137","LEFT VENTRICULAR NONCOMPACTION 3",1348,4,"1.0"]
["C4225414","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",1348,4,"1.0"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0","   Neoplasms"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0","   Digestive System Diseases"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0","   Neoplasms"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622","   Digestive System Diseases"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622","   Nervous System Diseases"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622","   Nutritional and Metabolic Diseases"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","   Digestive System Diseases"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","   Nervous System Diseases"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","   Nutritional and Metabolic Diseases"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622","   Digestive System Diseases"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622","   Nervous System Diseases"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622","   Nutritional and Metabolic Diseases"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622","   Digestive System Diseases"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622","   Nervous System Diseases"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622","   Nutritional and Metabolic Diseases"]
["C0002878","Anemia, Hemolytic",1319,4,"0.7722862154642667","   Hemic and Lymphatic Diseases"]
["C0002879","Anemia, Hemolytic, Acquired",1319,4,"0.9263136988199357","   Hemic and Lymphatic Diseases"]
["C0002889","Anemia, Microangiopathic",1319,4,"0.9247417218838393","   Hemic and Lymphatic Diseases"]
["C0221021","Microangiopathic hemolytic anemia",1319,4,"0.9206458597140103","   Hemic and Lymphatic Diseases"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337","   Nervous System Diseases"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748","   Nervous System Diseases"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","   Male Urogenital Diseases"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","   Female Urogenital Diseases and Pregnancy Complications"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0740896","Hypokalemic hypochloremic metabolic alkalosis",1304,4,"0.2844724550683174"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Otorhinolaryngologic Diseases"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Nervous System Diseases"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Male Urogenital Diseases"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Endocrine System Diseases"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026","   Pathological Conditions, Signs and Symptoms"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696"]
["C4310805","BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",1304,4,"0.5707009785019546"]
["C0014549","Tonic-Clonic Epilepsy",1299,4,"0.9694464538022375","   Nervous System Diseases"]
["C0751117","Cryptogenic Tonic-Clonic Epilepsy",1299,4,"0.9897204555042906","   Nervous System Diseases"]
["C0751118","Epilepsy, Tonic-Clonic, Familial",1299,4,"0.9897204555042906","   Nervous System Diseases"]
["C0751119","Epilepsy, Tonic-Clonic, Symptomatic",1299,4,"0.9897204555042906","   Nervous System Diseases"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0","   Skin and Connective Tissue Diseases"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0","   Skin and Connective Tissue Diseases"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0","   Skin and Connective Tissue Diseases"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","   Musculoskeletal Diseases"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","   Nervous System Diseases"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","   Nutritional and Metabolic Diseases"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346","   Musculoskeletal Diseases"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346","   Nervous System Diseases"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346","   Nutritional and Metabolic Diseases"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334","   Musculoskeletal Diseases"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334","   Nervous System Diseases"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334","   Nutritional and Metabolic Diseases"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407","   Musculoskeletal Diseases"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407","   Nervous System Diseases"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407","   Nutritional and Metabolic Diseases"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098","   Stomatognathic Diseases"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098","   Pathological Conditions, Signs and Symptoms"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161","   Musculoskeletal Diseases"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161","   Stomatognathic Diseases"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098","   Musculoskeletal Diseases"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098","   Stomatognathic Diseases"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098","   Musculoskeletal Diseases"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098","   Stomatognathic Diseases"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601","   Hemic and Lymphatic Diseases"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861178","Thrombocytopenia Paris-Trousseau type",1276,4,"0.9959254730538218"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218","   Hemic and Lymphatic Diseases"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4479515","BLEEDING DISORDER, PLATELET-TYPE, 21",1276,4,"0.9959254730538218"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296","   Nervous System Diseases"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296","   Pathological Conditions, Signs and Symptoms"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272","   Nervous System Diseases"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968845","Primary Lateral Sclerosis, Adult, 1",1273,4,"0.7604457615061272","   Nervous System Diseases"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272","   Nervous System Diseases"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272","   Pathological Conditions, Signs and Symptoms"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","   Nutritional and Metabolic Diseases"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838","   Nutritional and Metabolic Diseases"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838","   Nutritional and Metabolic Diseases"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132","   Nutritional and Metabolic Diseases"]
["C0406369","Lichen planus pemphigoides",1265,4,"0.9523254888813999"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708","   Skin and Connective Tissue Diseases"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708","   Immune System Diseases"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999","   Eye Diseases"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4304724","Late-onset junctional epidermolysis bullosa",1265,4,"0.9523254888813999"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525","   Nervous System Diseases"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525","   Endocrine System Diseases"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525","   Musculoskeletal Diseases"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525","   Nervous System Diseases"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525","   Endocrine System Diseases"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859","   Skin and Connective Tissue Diseases"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Nervous System Diseases"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Endocrine System Diseases"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Pathological Conditions, Signs and Symptoms"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Behavior and Behavior Mechanisms"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525","   Mental Disorders"]
["C1847582","Lipodystrophy with Congenital Cataracts and Neurodegeneration",1258,4,"1.0"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0","   Skin and Connective Tissue Diseases"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0","   Nutritional and Metabolic Diseases"]
["C3807567","PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME",1258,4,"1.0"]
["C3809192","PULMONARY HYPERTENSION, PRIMARY, 3",1258,4,"1.0"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613","   Nervous System Diseases"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442","   Musculoskeletal Diseases"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553264","JOUBERT SYNDROME 17",1233,4,"0.545036801201581"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255","   Digestive System Diseases"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","   Male Urogenital Diseases"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385","   Digestive System Diseases"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898","   Digestive System Diseases"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","   Nervous System Diseases"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","   Eye Diseases"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","   Male Urogenital Diseases"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","   Nervous System Diseases"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","   Eye Diseases"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","   Male Urogenital Diseases"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189","   Pathological Conditions, Signs and Symptoms"]
["C1857821","LEBER CONGENITAL AMAUROSIS 10 (disorder)",1224,4,"0.9772479626927189","   Eye Diseases"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Musculoskeletal Diseases"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Nervous System Diseases"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Male Urogenital Diseases"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Female Urogenital Diseases and Pregnancy Complications"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189","   Pathological Conditions, Signs and Symptoms"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383","   Digestive System Diseases"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383","   Nervous System Diseases"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383","   Eye Diseases"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383","   Pathological Conditions, Signs and Symptoms"]
["C4020790","Medullary sponge kidney disease",1222,4,"0.5796980971608529"]
["C4024644","Multiple small medullary renal cysts",1222,4,"0.5796980971608529"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631","   Musculoskeletal Diseases"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631","   Nervous System Diseases"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3279722","MYOPATHY, DISTAL, 4",1218,4,"0.9968577079381988"]
["C4310748","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",1218,4,"0.9968577079381988"]
["C4310749","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",1218,4,"0.9968577079381988"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897","   Cardiovascular Diseases"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862391","ASD I",1210,4,"0.9349126180414541"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541","   Cardiovascular Diseases"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862393","ASD II",1210,4,"0.9349126180414541"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739","   Musculoskeletal Diseases"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739","   Nervous System Diseases"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523","   Musculoskeletal Diseases"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523","   Nervous System Diseases"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683","   Musculoskeletal Diseases"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683","   Nervous System Diseases"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3250443","MYOTONIC DYSTROPHY 1",1208,4,"0.49368672418271026"]
["C0596131","audiogenic seizure",1193,4,"0.7869541890541861"]
["C1401084","Ovarian Insufficiency",1193,4,"0.5846286681209663"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563","   Nervous System Diseases"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563","   Pathological Conditions, Signs and Symptoms"]
["C3275521","CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME",1193,4,"0.7869541890541861"]
["C0040963","Tricuspid Valve Stenosis",1192,4,"0.6368290335248984","   Cardiovascular Diseases"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853","   Musculoskeletal Diseases"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853","   Musculoskeletal Diseases"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853","   Wounds and Injuries"]
["C3278147","GELEOPHYSIC DYSPLASIA 1",1192,4,"0.03254268110472885"]
["C0015708","Fazio-Londe Syndrome",1187,4,"0.8789814120223987","   Nervous System Diseases"]
["C0030442","Progressive bulbar palsy",1187,4,"0.8789814120223987","   Nervous System Diseases"]
["C0393540","Childhood Progressive Bulbar Palsy",1187,4,"0.8789814120223987","   Nervous System Diseases"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077","   Otorhinolaryngologic Diseases"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077","   Nervous System Diseases"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077","   Pathological Conditions, Signs and Symptoms"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","   Male Urogenital Diseases"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","   Female Urogenital Diseases and Pregnancy Complications"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","   Endocrine System Diseases"]
["C0432470","46, XY female",1178,4,"0.6651249785936851","   Male Urogenital Diseases"]
["C0432470","46, XY female",1178,4,"0.6651249785936851","   Female Urogenital Diseases and Pregnancy Complications"]
["C0432470","46, XY female",1178,4,"0.6651249785936851","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432470","46, XY female",1178,4,"0.6651249785936851","   Endocrine System Diseases"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071","   Male Urogenital Diseases"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071","   Female Urogenital Diseases and Pregnancy Complications"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071","   Endocrine System Diseases"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071","   Male Urogenital Diseases"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071","   Female Urogenital Diseases and Pregnancy Complications"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071","   Endocrine System Diseases"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","   Nervous System Diseases"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","   Skin and Connective Tissue Diseases"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","   Nutritional and Metabolic Diseases"]
["C0342841","Hunter\\'s syndrome, severe form",1176,4,"0.9998335879055861"]
["C0342842","Hunter\\'s syndrome, mild form",1176,4,"0.9998335879055861"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861","   Nervous System Diseases"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861","   Skin and Connective Tissue Diseases"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861","   Nutritional and Metabolic Diseases"]
["C1860752","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",1160,4,"0.9892816288917842"]
["C1861861","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)",1160,4,"0.9683061203126658","   Cardiovascular Diseases"]
["C2678474","CARDIOMYOPATHY, DILATED, 2A (disorder)",1160,4,"0.9892816288917842","   Cardiovascular Diseases"]
["C2750091","Cardiomyopathy, Dilated, 1FF",1160,4,"0.9892816288917842","   Cardiovascular Diseases"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209","   Musculoskeletal Diseases"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209","   Musculoskeletal Diseases"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209","   Endocrine System Diseases"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209","   Pathological Conditions, Signs and Symptoms"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431","   Musculoskeletal Diseases"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209","   Musculoskeletal Diseases"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209","   Stomatognathic Diseases"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209","   Wounds and Injuries"]
["C0034362","Q Fever",1152,4,"0.9999999999999998","   Infections"]
["C0519066","Acute Q fever",1152,4,"0.9999999999999998","   Infections"]
["C1443892","Chronic Q Fever",1152,4,"0.9999999999999998","   Infections"]
["C2973787","Coxiella burnetii Infection",1152,4,"0.9999999999999998","   Infections"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468","   Musculoskeletal Diseases"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468","   Nervous System Diseases"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468","   Musculoskeletal Diseases"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468","   Nervous System Diseases"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2827469","Coronary Microvascular Disease",1150,4,"0.71346407156482"]
["C0342782","Depletion of mitochondrial DNA",1142,4,"0.5537493321779642"]
["C3149750","MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)",1142,4,"0.897339513924786"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786","   Musculoskeletal Diseases"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786","   Nervous System Diseases"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786","   Nutritional and Metabolic Diseases"]
["C4310734","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",1142,4,"0.897339513924786"]
["C0003756","Arenaviridae Infections",1141,4,"1.0"]
["C0205671","Infections, Arenavirus",1141,4,"1.0"]
["C3714509","Nutrition Disorders",1141,4,"1.0","   Nutritional and Metabolic Diseases"]
["C4225219","IMMUNODEFICIENCY 46",1141,4,"1.0"]
["C0007193","Cardiomyopathy, Dilated",1138,4,"0.5573060417302593","   Cardiovascular Diseases"]
["C0264886","Conduction disorder of the heart",1138,4,"0.3898556667639416","   Cardiovascular Diseases"]
["C0340427","Familial dilated cardiomyopathy",1138,4,"0.36060005547372864","   Cardiovascular Diseases"]
["C1449563","Cardiomyopathy, Familial Idiopathic",1138,4,"0.0031474371698796706","   Cardiovascular Diseases"]
["C0030328","Panniculitis, Nodular Nonsuppurative",1137,4,"0.9099145068384988","   Skin and Connective Tissue Diseases"]
["C0039841","Thiamine Deficiency",1137,4,"0.7563350547642427","   Nutritional and Metabolic Diseases"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","   Digestive System Diseases"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","   Respiratory Tract Diseases"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","   Pathological Conditions, Signs and Symptoms"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637","   Digestive System Diseases"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637","   Respiratory Tract Diseases"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637","   Pathological Conditions, Signs and Symptoms"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525","   Hemic and Lymphatic Diseases"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525","   Nutritional and Metabolic Diseases"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","   Musculoskeletal Diseases"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","   Digestive System Diseases"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","   Nervous System Diseases"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","   Cardiovascular Diseases"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Musculoskeletal Diseases"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Digestive System Diseases"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Respiratory Tract Diseases"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Nervous System Diseases"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Cardiovascular Diseases"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525","   Pathological Conditions, Signs and Symptoms"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Musculoskeletal Diseases"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Digestive System Diseases"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Respiratory Tract Diseases"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Nervous System Diseases"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Cardiovascular Diseases"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645","   Pathological Conditions, Signs and Symptoms"]
["C0022578","Keratoconus",1121,4,"0.1752792905172218","   Eye Diseases"]
["C0028077","Night Blindness",1121,4,"0.06556981725310781","   Eye Diseases"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577","   Eye Diseases"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101","   Nervous System Diseases"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101","   Eye Diseases"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101","   Pathological Conditions, Signs and Symptoms"]
["C0339527","Leber Congenital Amaurosis",1120,4,"0.614613666104317","   Eye Diseases"]
["C0375206","Hemiplegia/hemiparesis",1120,4,"0.28613392330803156"]
["C1301509","Severe visual impairment",1120,4,"0.5081365186465451"]
["C3540662","Congenital Amaurosis of Retinal Origin",1120,4,"0.35544780678837085","   Eye Diseases"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757","   Male Urogenital Diseases"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757","   Female Urogenital Diseases and Pregnancy Complications"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757","   Nutritional and Metabolic Diseases"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757","   Endocrine System Diseases"]
["C0852654","21-hydroxylase deficiency",1119,4,"0.6383699403167985"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757","   Male Urogenital Diseases"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757","   Female Urogenital Diseases and Pregnancy Complications"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757","   Endocrine System Diseases"]
["C4273964","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1119,4,"0.8788701999033757"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795","   Neoplasms"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795","   Musculoskeletal Diseases"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795","   Stomatognathic Diseases"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606","   Neoplasms"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606","   Musculoskeletal Diseases"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606","   Stomatognathic Diseases"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795","   Musculoskeletal Diseases"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795","   Nervous System Diseases"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711390","9q22.3 Microdeletion",1114,4,"0.9795969719383795","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0155285","Orbital cyst",1113,4,"0.318931892986822"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822"]
["C4540342","JOUBERT SYNDROME 32",1113,4,"0.20405210589652178"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0","   Eye Diseases"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0","   Eye Diseases"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151202","LEBER CONGENITAL AMAUROSIS 8",1093,4,"1.0"]
["C4072868","Paravenous chorioretinal atrophy",1093,4,"1.0"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991","   Nervous System Diseases"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991","   Pathological Conditions, Signs and Symptoms"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991","   Nervous System Diseases"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991","   Pathological Conditions, Signs and Symptoms"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991","   Nervous System Diseases"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991","   Pathological Conditions, Signs and Symptoms"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991","   Nervous System Diseases"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991","   Pathological Conditions, Signs and Symptoms"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617","   Nervous System Diseases"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617","   Pathological Conditions, Signs and Symptoms"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096","   Nervous System Diseases"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096","   Pathological Conditions, Signs and Symptoms"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Musculoskeletal Diseases"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Respiratory Tract Diseases"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Nervous System Diseases"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Endocrine System Diseases"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515","   Pathological Conditions, Signs and Symptoms"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Musculoskeletal Diseases"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Respiratory Tract Diseases"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Nervous System Diseases"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Endocrine System Diseases"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515","   Pathological Conditions, Signs and Symptoms"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208","   Nervous System Diseases"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208","   Pathological Conditions, Signs and Symptoms"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975","   Nervous System Diseases"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975","   Pathological Conditions, Signs and Symptoms"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975","   Nervous System Diseases"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975","   Pathological Conditions, Signs and Symptoms"]
["C4305155","Isolated autosomal dominant hypomagnesemia Glaudemans type",1083,4,"0.99792108950975"]
["C3149378","IMMUNODEFICIENCY, COMMON VARIABLE, 1",1071,4,"0.3055805201478008"]
["C3277428","Severe viral infections",1071,4,"0.4669578382140786"]
["C3809991","IMMUNODEFICIENCY, COMMON VARIABLE, 10",1071,4,"0.3055805201478008"]
["C4014617","IMMUNODEFICIENCY 24",1071,4,"0.17048051471309186"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858","   Nervous System Diseases"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413","   Nervous System Diseases"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988","   Nervous System Diseases"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178","   Nervous System Diseases"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879","   Nutritional and Metabolic Diseases"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879","   Endocrine System Diseases"]
["C4225365","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",1061,4,"0.9551660346730506"]
["C4274081","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1061,4,"0.9551660346730506"]
["C4303593","DEND syndrome",1061,4,"0.9551660346730506"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","   Digestive System Diseases"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","   Nutritional and Metabolic Diseases"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133","   Digestive System Diseases"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133","   Nutritional and Metabolic Diseases"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223","   Digestive System Diseases"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223","   Nutritional and Metabolic Diseases"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654","   Digestive System Diseases"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654","   Nutritional and Metabolic Diseases"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472","   Hemic and Lymphatic Diseases"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561","   Hemic and Lymphatic Diseases"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561","   Hemic and Lymphatic Diseases"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4025285","Microspherocytosis",1049,4,"0.9101178765476561"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512","   Neoplasms"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512","   Nervous System Diseases"]
["C0391957","idiopathic epilepsy",1037,4,"0.11579113947359684"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972","   Nervous System Diseases"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972","   Pathological Conditions, Signs and Symptoms"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972","   Mental Disorders"]
["C1842564","Temporal epilepsy, familial",1037,4,"0.7776603817177512","   Nervous System Diseases"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969","   Musculoskeletal Diseases"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969","   Nervous System Diseases"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969","   Pathological Conditions, Signs and Symptoms"]
["C3277723","JOUBERT SYNDROME 12",1022,4,"0.946143372501969"]
["C3279899","Hydrolethalus Syndrome 2",1022,4,"0.946143372501969"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233","   Musculoskeletal Diseases"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866339","Preaxial Hallucal Polydactyly",1020,4,"-0.08921202085428967"]
["C3554247","CARPENTER SYNDROME 2",1020,4,"0.4232457986339482"]
["C4020889","Cornela disease",1020,4,"0.07721152036680853"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319","   Stomatognathic Diseases"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319","   Nervous System Diseases"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319","   Pathological Conditions, Signs and Symptoms"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384","   Musculoskeletal Diseases"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384","   Cardiovascular Diseases"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384","   Hemic and Lymphatic Diseases"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384","   Endocrine System Diseases"]
["C3266101","22q11 partial monosomy syndrome",1013,4,"0.8701801956520172"]
["C4024912","Occipital myelomeningocele",1013,4,"0.8693693476693937"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774","   Nervous System Diseases"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774","   Cardiovascular Diseases"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774","   Endocrine System Diseases"]
["C0035333","Retinitis",1003,4,"0.7450760583596704","   Eye Diseases"]
["C0154874","Neuroretinitis",1003,4,"0.9052517448587774","   Eye Diseases"]
["C3203733","Precordial Catch Syndrome",1003,4,"0.9052517448587774","   Pathological Conditions, Signs and Symptoms"]
["C0343239","Benign congenital hypotonia",994,4,"0.4019925104659892"]
["C1655035","congenital muscle disorder",994,4,"0.4019925104659892"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348","   Musculoskeletal Diseases"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348","   Nervous System Diseases"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348","   Male Urogenital Diseases"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167","   Male Urogenital Diseases"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167","   Female Urogenital Diseases and Pregnancy Complications"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795878","Monosomy 22",986,4,"0.9157211381818925"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","   Neoplasms"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","   Nervous System Diseases"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","   Male Urogenital Diseases"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925","   Female Urogenital Diseases and Pregnancy Complications"]
["C2985524","Rhabdoid Tumor Predisposition Syndrome",986,4,"0.9157211381818925"]
["C3553248","MENTAL RETARDATION, AUTOSOMAL DOMINANT 15",986,4,"0.4769118408704372"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841","   Nervous System Diseases"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841","   Pathological Conditions, Signs and Symptoms"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841","   Behavior and Behavior Mechanisms"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841","   Mental Disorders"]
["C3277090","CHROMOSOME 2q23.1 DELETION SYNDROME",983,4,"0.7779578635877981"]
["C3553247","MENTAL RETARDATION, AUTOSOMAL DOMINANT 14",983,4,"-0.06539317343845784"]
["C4304532","2q23.1 microdeletion syndrome",983,4,"0.710787630067661"]
["C1854023","Spinal muscular atrophy, Jerash type",965,4,"0.3467724488146202","   Nervous System Diseases"]
["C3280587","AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",965,4,"0.1331586705851838"]
["C3711384","Distal Hereditary Motor Neuropathy, Type II",965,4,"-0.1818813881409131","   Nervous System Diseases"]
["C3888271","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID",965,4,"0.2966258170086335"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0","   Eye Diseases"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0","   Nutritional and Metabolic Diseases"]
["C1853578","Neuroferritinopathy",961,4,"1.0","   Nervous System Diseases"]
["C1853578","Neuroferritinopathy",961,4,"1.0","   Nutritional and Metabolic Diseases"]
["C3810090","L-FERRITIN DEFICIENCY",961,4,"1.0"]
["C4024952","Cavitation of the basal ganglia",961,4,"1.0"]
["C0234517","Anarthria speech disorder",960,4,"0.08043819918468745"]
["C1853396","Primary lateral sclerosis juvenile",960,4,"0.753905345597191","   Nervous System Diseases"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173","   Nervous System Diseases"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173","   Nutritional and Metabolic Diseases"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318","   Nervous System Diseases"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612","   Nutritional and Metabolic Diseases"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445","   Nutritional and Metabolic Diseases"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671","   Nutritional and Metabolic Diseases"]
["C0338902","Writer\\'s cramp neurosis",949,4,"0.8441872370991478"]
["C1851945","DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",949,4,"0.9503061918558788"]
["C1969807","Dystonia, Focal, Task-Specific",949,4,"0.9509677233862748","   Nervous System Diseases"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566","   Nervous System Diseases"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596","   Nervous System Diseases"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596","   Eye Diseases"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596","   Pathological Conditions, Signs and Symptoms"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045","   Nervous System Diseases"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045","   Eye Diseases"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045","   Pathological Conditions, Signs and Symptoms"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444","   Nervous System Diseases"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444","   Eye Diseases"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444","   Pathological Conditions, Signs and Symptoms"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141","   Nervous System Diseases"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141","   Eye Diseases"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141","   Pathological Conditions, Signs and Symptoms"]
["C0398762","Properdin deficiency disease",942,4,"1.0"]
["C1839454","PROPERDIN DEFICIENCY, X-LINKED",942,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0","   Immune System Diseases"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0","   Immune System Diseases"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536","   Musculoskeletal Diseases"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915","   Musculoskeletal Diseases"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029","   Musculoskeletal Diseases"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4014780","OROFACIODIGITAL SYNDROME XIV",938,4,"0.5251645199190038"]
["C0008313","Cholangitis, Sclerosing",923,4,"0.22838409719731467","   Digestive System Diseases"]
["C0038013","Ankylosing spondylitis",923,4,"-0.12575006794417226","   Musculoskeletal Diseases"]
["C0566602","Primary sclerosing cholangitis",923,4,"-0.12001639727158234","   Digestive System Diseases"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","   Musculoskeletal Diseases"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","   Cardiovascular Diseases"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","   Endocrine System Diseases"]
["C1844569","Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder",918,4,"0.9575445344660868"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868","   Musculoskeletal Diseases"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868","   Cardiovascular Diseases"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868","   Endocrine System Diseases"]
["C3275558","MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",918,4,"0.9575445344660868"]
["C1300267","Brachydactyly syndrome type B",913,4,"0.9376849361290489"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834","   Musculoskeletal Diseases"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834","   Stomatognathic Diseases"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151609","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",913,4,"0.9621021108222909"]
["C3151610","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",913,4,"0.9621021108222909"]
["C3714995","CARDIOMYOPATHY, DILATED, 1KK",908,4,"1.0"]
["C3714998","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",908,4,"1.0"]
["C3808963","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",908,4,"1.0"]
["C4479186","NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE",908,4,"1.0"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121","   Musculoskeletal Diseases"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736","   Musculoskeletal Diseases"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141","   Musculoskeletal Diseases"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297","   Skin and Connective Tissue Diseases"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467","   Skin and Connective Tissue Diseases"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396","   Skin and Connective Tissue Diseases"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551","   Skin and Connective Tissue Diseases"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433","   Respiratory Tract Diseases"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1302790","Congenital malformation syndrome",892,4,"0.48092873988055274"]
["C2675862","Pyloric Stenosis, Infantile Hypertrophic, 5",892,4,"0.7699820102594364","   Digestive System Diseases"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1563696","DNA Repair-Deficiency Disorders",885,4,"0.9621712857806799","   Nutritional and Metabolic Diseases"]
["C1563697","Chromosome Instability Syndromes",885,4,"0.9621712857806799","   Nutritional and Metabolic Diseases"]
["C3150667","MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",885,4,"0.8679791396861877"]
["C4225397","ATAXIA-OCULOMOTOR APRAXIA 4",885,4,"0.9621712857806799"]
["C0270724","Infantile Neuroaxonal Dystrophy",874,4,"0.8493486536305945","   Nervous System Diseases"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714","   Nervous System Diseases"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714","   Nutritional and Metabolic Diseases"]
["C2750220","Karak Syndrome",874,4,"0.9665095510784714","   Nervous System Diseases"]
["C2751842","PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",874,4,"0.9665095510784714","   Nervous System Diseases"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","   Otorhinolaryngologic Diseases"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","   Nervous System Diseases"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","   Eye Diseases"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108","   Pathological Conditions, Signs and Symptoms"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523","   Otorhinolaryngologic Diseases"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523","   Nervous System Diseases"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523","   Eye Diseases"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523","   Pathological Conditions, Signs and Symptoms"]
["C3152102","USH1D/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C3275872","USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C0338473","Neuroaxonal Dystrophies",850,4,"0.9763121476503032","   Nervous System Diseases"]
["C0751716","Adult Neuroaxonal Dystrophy",850,4,"0.9925714371010504","   Nervous System Diseases"]
["C0751717","Juvenile Neuroaxonal Dystrophy",850,4,"0.9925714371010504","   Nervous System Diseases"]
["C0751718","Late Infantile Neuroaxonal Dystrophy",850,4,"0.9925714371010504","   Nervous System Diseases"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447","   Nervous System Diseases"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447","   Nutritional and Metabolic Diseases"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519","   Nervous System Diseases"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150732","LYMPHEDEMA, HEREDITARY, IC",828,4,"0.9689434860194519"]
["C4274084","Pelizaeus Merzbacher like disease",828,4,"0.8988264701320258"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929","   Nervous System Diseases"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929","   Nutritional and Metabolic Diseases"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846","   Nervous System Diseases"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846","   Nutritional and Metabolic Diseases"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846","   Nervous System Diseases"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846","   Nutritional and Metabolic Diseases"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146","   Nervous System Diseases"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146","   Nutritional and Metabolic Diseases"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481","   Nutritional and Metabolic Diseases"]
["C0028817","Ochronosis",815,4,"0.9998949928170674","   Pathological Conditions, Signs and Symptoms"]
["C0410607","Intervertebral disk calcification",815,4,"0.9998949928170674"]
["C2931645","Ochronosis, hereditary",815,4,"0.9998949928170674","   Pathological Conditions, Signs and Symptoms"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405","   Nervous System Diseases"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043","   Nervous System Diseases"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081","   Nervous System Diseases"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342","   Nervous System Diseases"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219","   Infections"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219","   Hemic and Lymphatic Diseases"]
["C0026916","Mycobacterium avium-intracellulare Infection",809,4,"0.874268558118369","   Infections"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369","   Nervous System Diseases"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369","   Nervous System Diseases"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369","   Nutritional and Metabolic Diseases"]
["C0152205","Alternating esotropia",778,4,"0.6668195784166747"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791","   Musculoskeletal Diseases"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791","   Nervous System Diseases"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091","   Nutritional and Metabolic Diseases"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791","   Cardiovascular Diseases"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791","   Pathological Conditions, Signs and Symptoms"]
["C0154141","Thyrotoxicosis with toxic single thyroid nodule",777,4,"0.7790903844121302"]
["C0154143","Toxic multinodular goiter",777,4,"0.761212308025839"]
["C0268446","Thyrotoxic periodic paralysis",777,4,"0.7634430126158891"]
["C4021553","Periodic hypokalemic paresis",777,4,"0.16836888503759684"]
["C0340486","Induced ventricular tachycardia",763,4,"0.9689497285955772"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772","   Cardiovascular Diseases"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772","   Cardiovascular Diseases"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772","   Pathological Conditions, Signs and Symptoms"]
["C4053736","Catecholaminergic Polymorphic Ventricular Tachycardia Type 1",763,4,"0.8604421250736728"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183","   Cardiovascular Diseases"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183","   Pathological Conditions, Signs and Symptoms"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948","   Cardiovascular Diseases"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948","   Pathological Conditions, Signs and Symptoms"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619","   Cardiovascular Diseases"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619","   Pathological Conditions, Signs and Symptoms"]
["C3279093","LONG QT SYNDROME 2/9, DIGENIC",760,4,"0.7046718288484356"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648","   Cardiovascular Diseases"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777","   Cardiovascular Diseases"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777","   Pathological Conditions, Signs and Symptoms"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906","   Cardiovascular Diseases"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906","   Pathological Conditions, Signs and Symptoms"]
["C3277700","LONG QT SYNDROME 1/2, DIGENIC (disorder)",759,4,"0.5600704718799824"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","   Nervous System Diseases"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","   Skin and Connective Tissue Diseases"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671","   Nutritional and Metabolic Diseases"]
["C1096660","Ehlers-Danlos syndrome type IX",757,4,"0.9584766650423687"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687","   Nervous System Diseases"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023510","Leukocyte Disorders",754,4,"0.8708959682898822","   Hemic and Lymphatic Diseases"]
["C0242597","Leukocyte-Adhesion Deficiency Syndrome",754,4,"0.8708959682898822","   Immune System Diseases"]
["C0272187","Congenital leukocyte adherence deficiency",754,4,"0.5926966934749797"]
["C0398738","Leukocyte adhesion deficiency type 1",754,4,"0.8923126575533546","   Immune System Diseases"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","   Eye Diseases"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408","   Nutritional and Metabolic Diseases"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962","   Nutritional and Metabolic Diseases"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324"]
["C0031046","Pericarditis",737,4,"0.7652398869788269","   Cardiovascular Diseases"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893","   Cardiovascular Diseases"]
["C1167732","Pleuropericarditis",737,4,"0.948447210824893","   Cardiovascular Diseases"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893","   Musculoskeletal Diseases"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893","   Pathological Conditions, Signs and Symptoms"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Musculoskeletal Diseases"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Nervous System Diseases"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Endocrine System Diseases"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Pathological Conditions, Signs and Symptoms"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Behavior and Behavior Mechanisms"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329","   Mental Disorders"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Musculoskeletal Diseases"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Nervous System Diseases"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Endocrine System Diseases"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Pathological Conditions, Signs and Symptoms"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Behavior and Behavior Mechanisms"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367","   Mental Disorders"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251","   Musculoskeletal Diseases"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888088","SMITH-MCCORT DYSPLASIA 1",725,4,"0.9702319108165626"]
["C0006664","Calcinosis cutis",716,4,"0.9950932510684533"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566","   Hemic and Lymphatic Diseases"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0748397","Reynolds syndrome",716,4,"0.9950932510684533"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533","   Musculoskeletal Diseases"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0151747","Renal tubular disorder",714,4,"0.6564438927056846"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803","   Nutritional and Metabolic Diseases"]
["C0268709","Renal tubular defect",714,4,"0.6568289259015833"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522","   Male Urogenital Diseases"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522","   Female Urogenital Diseases and Pregnancy Complications"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522","   Nutritional and Metabolic Diseases"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","   Male Urogenital Diseases"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","   Female Urogenital Diseases and Pregnancy Complications"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","   Nutritional and Metabolic Diseases"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","   Male Urogenital Diseases"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426","   Nutritional and Metabolic Diseases"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","   Male Urogenital Diseases"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","   Female Urogenital Diseases and Pregnancy Complications"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243","   Nutritional and Metabolic Diseases"]
["C3150674","CHROMOSOME 15q24 DELETION SYNDROME",708,4,"0.8389773239052534"]
["C3150675","CHROMOSOME 15q24 DUPLICATION SYNDROME",708,4,"0.8389773239052534"]
["C4025697","Gastrointestinal atresia",708,4,"0.5941201036686057"]
["C4310804","WITTEVEEN-KOLK SYNDROME",708,4,"0.8389773239052534"]
["C0263580","Ichthyosis hystrix",696,4,"0.8742152361227875"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219","   Skin and Connective Tissue Diseases"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875","   Skin and Connective Tissue Diseases"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875","   Skin and Connective Tissue Diseases"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414","   Skin and Connective Tissue Diseases"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029","   Skin and Connective Tissue Diseases"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936","   Skin and Connective Tissue Diseases"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247","   Skin and Connective Tissue Diseases"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887","   Nervous System Diseases"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344","   Nervous System Diseases"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127","   Nervous System Diseases"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107","   Nervous System Diseases"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","   Neoplasms"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","   Musculoskeletal Diseases"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","   Stomatognathic Diseases"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","   Pathological Conditions, Signs and Symptoms"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Musculoskeletal Diseases"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Stomatognathic Diseases"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Eye Diseases"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Male Urogenital Diseases"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Female Urogenital Diseases and Pregnancy Complications"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929","   Musculoskeletal Diseases"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929","   Stomatognathic Diseases"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929","   Eye Diseases"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256","   Musculoskeletal Diseases"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256","   Stomatognathic Diseases"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Nervous System Diseases"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Eye Diseases"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Hemic and Lymphatic Diseases"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Skin and Connective Tissue Diseases"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Pathological Conditions, Signs and Symptoms"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232","   Mental Disorders"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682","   Nutritional and Metabolic Diseases"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682","   Immune System Diseases"]
["C4011726","MYOPATHY, TUBULAR AGGREGATE, 1",681,4,"0.587886115917754"]
["C4015624","MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",681,4,"0.19107546263873001"]
["C0013369","Dysentery",674,4,"0.5565012010686669","   Digestive System Diseases"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","   Digestive System Diseases"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","   Nutritional and Metabolic Diseases"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862","   Digestive System Diseases"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862","   Nutritional and Metabolic Diseases"]
["C1857231","LACTASE PERSISTENCE",674,4,"0.44101976176582613"]
["C0014057","Japanese Encephalitis",670,4,"0.12529101004639417","   Nervous System Diseases"]
["C0037354","Smallpox",670,4,"0.25178701965340117"]
["C0043395","Yellow Fever",670,4,"0.2715412910380418"]
["C1096184","West Nile viral infection",670,4,"0.14120861033824855"]
["C0155118","Corneal degeneration",668,4,"0.8857334165912198"]
["C0271288","Corneal guttata",668,4,"0.12529869842568003"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198","   Eye Diseases"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198","   Eye Diseases"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","   Musculoskeletal Diseases"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","   Endocrine System Diseases"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725","   Musculoskeletal Diseases"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725","   Endocrine System Diseases"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874","   Nervous System Diseases"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874","   Mental Disorders"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853","   Musculoskeletal Diseases"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853","   Endocrine System Diseases"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397","   Nutritional and Metabolic Diseases"]
["C0542037","Hypotriglyceridemia",660,4,"0.49505692326805123"]
["C3149462","HYPERALPHALIPOPROTEINEMIA 1",660,4,"-0.10585370600871524"]
["C3151467","Apolipoprotein C-III Deficiency",660,4,"0.22375473325642664","   Nutritional and Metabolic Diseases"]
["C0406810","Carney Complex",656,4,"0.966104924710435","   Neoplasms"]
["C0406810","Carney Complex",656,4,"0.966104924710435","   Cardiovascular Diseases"]
["C0406810","Carney Complex",656,4,"0.966104924710435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422","   Neoplasms"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422","   Cardiovascular Diseases"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864846","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)",656,4,"0.9882890821196422","   Endocrine System Diseases"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328","   Neoplasms"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328","   Cardiovascular Diseases"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956","   Nutritional and Metabolic Diseases"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766","   Hemic and Lymphatic Diseases"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047","   Nutritional and Metabolic Diseases"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766","   Nutritional and Metabolic Diseases"]
["C0030591","Paroxysmal ventricular tachycardia",646,4,"0.6412214985130897"]
["C1832600","Naxos disease",646,4,"0.4094582303008028","   Cardiovascular Diseases"]
["C1832600","Naxos disease",646,4,"0.4094582303008028","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832600","Naxos disease",646,4,"0.4094582303008028","   Skin and Connective Tissue Diseases"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523","   Cardiovascular Diseases"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677105","Inflammatory Bowel Disease 12",646,4,"-0.02988571523685779","   Digestive System Diseases"]
["C0025306","Meningococcemia",643,4,"0.2591458046500854"]
["C0877430","Asthma chronic",643,4,"0.704724009687437"]
["C1096458","Vascular occlusion",643,4,"0.704724009687437"]
["C2750067","Plasminogen Activator Inhibitor-1 Deficiency",643,4,"0.704724009687437","   Hemic and Lymphatic Diseases"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064","   Hemic and Lymphatic Diseases"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272322","Severe hereditary factor VIII deficiency disease",640,4,"0.8052338115339882"]
["C0272324","Mild hereditary factor VIII deficiency disease",640,4,"0.8046019085659679"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889","   Hemic and Lymphatic Diseases"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","   Nervous System Diseases"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","   Eye Diseases"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","   Nutritional and Metabolic Diseases"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239","   Nervous System Diseases"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239","   Nutritional and Metabolic Diseases"]
["C3887709","Optic Neuropathy",637,4,"0.3628349824329477"]
["C0014173","Endometrial Hyperplasia",631,4,"0.9747354035273748","   Female Urogenital Diseases and Pregnancy Complications"]
["C0349578","Complex Endometrial Hyperplasia",631,4,"0.9901067057039784","   Female Urogenital Diseases and Pregnancy Complications"]
["C0349579","Atypical Endometrial Hyperplasia",631,4,"0.9911635507461023","   Female Urogenital Diseases and Pregnancy Complications"]
["C0456483","Simple Endometrial Hyperplasia",631,4,"0.9901067057039784","   Female Urogenital Diseases and Pregnancy Complications"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496","   Nervous System Diseases"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496","   Pathological Conditions, Signs and Symptoms"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496","   Nervous System Diseases"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496","   Pathological Conditions, Signs and Symptoms"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496","   Nervous System Diseases"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496","   Pathological Conditions, Signs and Symptoms"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703","   Nervous System Diseases"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243","   Nervous System Diseases"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487","   Nervous System Diseases"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","   Nervous System Diseases"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","   Pathological Conditions, Signs and Symptoms"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","   Behavior and Behavior Mechanisms"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858","   Mental Disorders"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962","   Nervous System Diseases"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764","   Nervous System Diseases"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764","   Pathological Conditions, Signs and Symptoms"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764","   Behavior and Behavior Mechanisms"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764","   Mental Disorders"]
["C3150988","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",593,4,"-0.1953277045552747"]
["C3554316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15",593,4,"0.20570769240111966"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031","   Stomatognathic Diseases"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031","   Stomatognathic Diseases"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553830","AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",585,4,"0.1924090306536971"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824"]
["C1855432","Mandibulofacial Dysostosis with Mental Deficiency",575,4,"1.0"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0","   Eye Diseases"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0","   Eye Diseases"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495438","Macular Degeneration, Age-Related, 2",575,4,"1.0","   Eye Diseases"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441","   Nervous System Diseases"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441","   Eye Diseases"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441","   Pathological Conditions, Signs and Symptoms"]
["C0242225","Color blindness",566,4,"0.9950754269291268","   Nervous System Diseases"]
["C0242225","Color blindness",566,4,"0.9950754269291268","   Eye Diseases"]
["C0242225","Color blindness",566,4,"0.9950754269291268","   Pathological Conditions, Signs and Symptoms"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441","   Nervous System Diseases"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441","   Eye Diseases"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441","   Pathological Conditions, Signs and Symptoms"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441","   Nervous System Diseases"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441","   Eye Diseases"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441","   Pathological Conditions, Signs and Symptoms"]
["C0019625","Sinus histiocytosis",564,4,"1.0","   Hemic and Lymphatic Diseases"]
["C0235592","Cervical lymphadenopathy",564,4,"1.0"]
["C0432262","Dysosteosclerosis",564,4,"1.0","   Musculoskeletal Diseases"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0","   Musculoskeletal Diseases"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0","   Otorhinolaryngologic Diseases"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0","   Nervous System Diseases"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0","   Hemic and Lymphatic Diseases"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0432347","Uncombable hair syndrome",548,4,"0.8035445441555604","   Skin and Connective Tissue Diseases"]
["C4020850","Generalized trichodysplasia",548,4,"0.8792453047085022"]
["C4025700","Trichodysplasia",548,4,"0.8792453047085022"]
["C4310649","UNCOMBABLE HAIR SYNDROME 2",548,4,"0.6533279180232886"]
["C3150733","LONG QT SYNDROME 13",547,4,"1.0"]
["C3150933","HYPERALDOSTERONISM, FAMILIAL, TYPE III",547,4,"1.0"]
["C4020742","Familial primary hyperaldosteronism type 2",547,4,"1.0"]
["C4023208","Glucocortocoid-insensitive primary hyperaldosteronism",547,4,"1.0"]
["C0040412","Fissured tongue",541,4,"0.38932353203088294","   Stomatognathic Diseases"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794","   Neoplasms"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794","   Nutritional and Metabolic Diseases"]
["C3272802","Hamartomatous polyposis",541,4,"0.49314407207659977"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314"]
["C1708353","Hereditary Paraganglioma-Pheochromocytoma Syndrome",540,4,"0.10474032977052136"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165","   Neoplasms"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165","   Digestive System Diseases"]
["C1858592","Carney Triad",540,4,"0.24373366452987683","   Neoplasms"]
["C1858592","Carney Triad",540,4,"0.24373366452987683","   Digestive System Diseases"]
["C1858592","Carney Triad",540,4,"0.24373366452987683","   Respiratory Tract Diseases"]
["C4025693","Hypertension associated with pheochromocytoma",540,4,"0.535271664386681"]
["C3150412","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3",513,4,"0.6020080495063018"]
["C3150417","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",513,4,"0.8973661853444033"]
["C3151519","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",513,4,"0.8472780013808121"]
["C4310704","RETINITIS PIGMENTOSA 76",513,4,"0.8973661853444033"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Nervous System Diseases"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Eye Diseases"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Skin and Connective Tissue Diseases"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Behavior and Behavior Mechanisms"]
["C0268354","De Barsy syndrome",498,4,"1.0","   Mental Disorders"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0","   Nervous System Diseases"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0","   Eye Diseases"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4225268","CUTIS LAXA, AUTOSOMAL DOMINANT 3",498,4,"1.0"]
["C4225272","SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",498,4,"1.0"]
["C0002949","Aneurysm, Dissecting",495,4,"0.4190083652153722","   Cardiovascular Diseases"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864","   Musculoskeletal Diseases"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864","   Cardiovascular Diseases"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011","   Musculoskeletal Diseases"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011","   Cardiovascular Diseases"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2697933","Loeys-Dietz Syndrome Type 1",495,4,"0.3284215457493587"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848","   Respiratory Tract Diseases"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848","   Cardiovascular Diseases"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848","   Pathological Conditions, Signs and Symptoms"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514","   Neoplasms"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514","   Cardiovascular Diseases"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514","   Pathological Conditions, Signs and Symptoms"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684","   Cardiovascular Diseases"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4022878","Descending aortic dissection",494,4,"0.4382772547496848"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","   Digestive System Diseases"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","   Nervous System Diseases"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209","   Pathological Conditions, Signs and Symptoms"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","   Digestive System Diseases"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","   Nervous System Diseases"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414","   Pathological Conditions, Signs and Symptoms"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","   Digestive System Diseases"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","   Nervous System Diseases"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725","   Pathological Conditions, Signs and Symptoms"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","   Digestive System Diseases"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","   Nervous System Diseases"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954","   Pathological Conditions, Signs and Symptoms"]
["C0029118","Opportunistic Infections",487,4,"0.44372825067254085","   Infections"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191","   Infections"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191","   Nervous System Diseases"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996","   Hemic and Lymphatic Diseases"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996","   Immune System Diseases"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Nervous System Diseases"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Eye Diseases"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Pathological Conditions, Signs and Symptoms"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Behavior and Behavior Mechanisms"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885","   Mental Disorders"]
["C0270246","Meconium plug syndrome",484,4,"0.8684151328108605"]
["C0398349","Distal intestinal obstruction syndrome",484,4,"-0.05192123239712883"]
["C2939175","Meconium ileus",484,4,"0.8993817382526215","   Digestive System Diseases"]
["C3553270","DIARRHEA 6",484,4,"0.8684151328108605"]
["C0267937","Acute recurrent pancreatitis",481,4,"0.6551856257743953"]
["C0341471","Idiopathic chronic pancreatitis",481,4,"0.6557646647913911"]
["C0747198","pancreatitis idiopathic",481,4,"0.24422481763496753"]
["C2609129","Autoimmune pancreatitis",481,4,"0.4201820765467514"]
["C0341862","Hypothalamic amenorrhea",479,4,"1.0"]
["C3554224","LEPTIN DEFICIENCY OR DYSFUNCTION",479,4,"1.0"]
["C3824872","Obesity in animals",479,4,"1.0"]
["C3838754","Congenital leptin deficiency",479,4,"1.0"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0","   Musculoskeletal Diseases"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0","   Musculoskeletal Diseases"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0","   Cardiovascular Diseases"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0","   Hemic and Lymphatic Diseases"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1859069","Brittle Bone Disorder",461,4,"1.0","   Musculoskeletal Diseases"]
["C4303786","Ehlers-Danlos syndrome vascular-like type",461,4,"1.0"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036","   Cardiovascular Diseases"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036","   Hemic and Lymphatic Diseases"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036","   Skin and Connective Tissue Diseases"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784","   Cardiovascular Diseases"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784","   Hemic and Lymphatic Diseases"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784","   Skin and Connective Tissue Diseases"]
["C3840085","Disorder of Achilles tendon",457,4,"0.39971956502070516"]
["C4225429","Ehlers-Danlos syndrome classic type",457,4,"0.42484294501622777"]
["C1837187","MACULAR DEGENERATION, AGE-RELATED, 3",453,4,"0.9332428068483192","   Eye Diseases"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433","   Skin and Connective Tissue Diseases"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192","   Skin and Connective Tissue Diseases"]
["C4225406","NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION",453,4,"0.9332428068483192"]
["C0014836","Escherichia coli Infections",436,4,"0.42148715921281665","   Infections"]
["C1096063","Drug Resistant Epilepsy",436,4,"0.5351995344085753","   Nervous System Diseases"]
["C1861502","COLCHICINE RESISTANCE",436,4,"0.7518401423529796"]
["C2677101","Inflammatory Bowel Disease 13",436,4,"0.7518401423529796","   Digestive System Diseases"]
["C0019114","Hemosiderosis",428,4,"0.886579780043549","   Nutritional and Metabolic Diseases"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549","   Nutritional and Metabolic Diseases"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283","   Digestive System Diseases"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283","   Skin and Connective Tissue Diseases"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283","   Nutritional and Metabolic Diseases"]
["C3469186","HEMOCHROMATOSIS, TYPE 1",428,4,"0.5059919153578046"]
["C0029421","Osteochondritis Dissecans",425,4,"0.6118752508401556","   Musculoskeletal Diseases"]
["C0038012","Spondylitis",425,4,"0.8730318364465777","   Infections"]
["C0038012","Spondylitis",425,4,"0.8730318364465777","   Musculoskeletal Diseases"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777","   Musculoskeletal Diseases"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3665488","Familial Osteochondritis Dissecans",425,4,"0.8730318364465777","   Musculoskeletal Diseases"]
["C0750145","Occlusive vascular disease",416,4,"0.9870622703220427"]
["C1306889","Peripheral arterial occlusive disease",416,4,"0.9956471897164249"]
["C4025272","Peripheral arterial stenosis",416,4,"0.9956471897164249"]
["C4531019","Arterial disease of legs",416,4,"0.9956471897164249"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915","   Musculoskeletal Diseases"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915","   Endocrine System Diseases"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915","   Pathological Conditions, Signs and Symptoms"]
["C3278482","DESBUQUOIS DYSPLASIA, KIM VARIANT",411,4,"0.5918089323106626"]
["C4012146","DESBUQUOIS DYSPLASIA 1",411,4,"0.5918089323106626"]
["C4014294","DESBUQUOIS DYSPLASIA 2",411,4,"-0.29884429387514977"]
["C0021100","Bullous impetigo",398,4,"0.6195026896156528"]
["C1838099","ABCD syndrome",398,4,"0.6195026896156528","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962","   Digestive System Diseases"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3266898","Waardenburg Syndrome",398,4,"-0.15530663933950462","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156","   Cardiovascular Diseases"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156","   Nutritional and Metabolic Diseases"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535","   Musculoskeletal Diseases"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535","   Pathological Conditions, Signs and Symptoms"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","   Musculoskeletal Diseases"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","   Male Urogenital Diseases"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","   Female Urogenital Diseases and Pregnancy Complications"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089","   Nutritional and Metabolic Diseases"]
["C3809781","Cole disease",391,4,"0.8578268889014156"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0","   Stomatognathic Diseases"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0","   Stomatognathic Diseases"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0","   Stomatognathic Diseases"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0","   Neoplasms"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0","   Stomatognathic Diseases"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0","   Eye Diseases"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0","   Skin and Connective Tissue Diseases"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678","   Nervous System Diseases"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798","   Nervous System Diseases"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225369","MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",353,4,"0.9667328529971798"]
["C4225413","MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",353,4,"0.9667328529971798"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364","   Otorhinolaryngologic Diseases"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364","   Nervous System Diseases"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364","   Pathological Conditions, Signs and Symptoms"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244","   Otorhinolaryngologic Diseases"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244","   Nervous System Diseases"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244","   Pathological Conditions, Signs and Symptoms"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566","   Otorhinolaryngologic Diseases"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566","   Nervous System Diseases"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566","   Pathological Conditions, Signs and Symptoms"]
["C3665333","Keratitis-Ichthyosis-Deafness Syndrome",349,4,"0.7237192186662726","   Eye Diseases"]
["C4011788","Behavioral variant of frontotemporal dementia",347,4,"0.7960292379557252"]
["C4021584","Frontotemporal cerebral atrophy",347,4,"0.7000467182622997"]
["C4024936","Temporal cortical atrophy",347,4,"0.7287840688620689"]
["C4024956","Grammar-specific speech disorder",347,4,"0.7900381285986946"]
["C0270920","Supranuclear paralysis",346,4,"0.7816267884283268"]
["C0338460","Argyrophilic grain disease",346,4,"0.5149372574107562"]
["C0393570","Corticobasal degeneration",346,4,"0.7499873031211506"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268","   Nervous System Diseases"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268","   Eye Diseases"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268","   Pathological Conditions, Signs and Symptoms"]
["C0477548","Other chondrocalcinosis",337,4,"0.6929768292601719"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775","   Musculoskeletal Diseases"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775","   Nutritional and Metabolic Diseases"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736","   Musculoskeletal Diseases"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736","   Nutritional and Metabolic Diseases"]
["C2931105","Hypercalciuria, childhood idiopathic",337,4,"0.2494154124977662","   Pathological Conditions, Signs and Symptoms"]
["C0038833","Superior Vena Cava Syndrome",333,4,"1.0","   Cardiovascular Diseases"]
["C0038834","Superior Vena Cava Thrombosis",333,4,"1.0","   Cardiovascular Diseases"]
["C0267941","Pancreatitis, Acute Necrotizing",333,4,"1.0","   Digestive System Diseases"]
["C3150644","BRACHYDACTYLY, TYPE E2",333,4,"1.0"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679","   Nervous System Diseases"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679","   Pathological Conditions, Signs and Symptoms"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688","   Nervous System Diseases"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688","   Pathological Conditions, Signs and Symptoms"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489","   Nervous System Diseases"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489","   Pathological Conditions, Signs and Symptoms"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584","   Nervous System Diseases"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584","   Pathological Conditions, Signs and Symptoms"]
["C0205858","General Paralysis",316,4,"0.4336675050527473","   Infections"]
["C0205858","General Paralysis",316,4,"0.4336675050527473","   Nervous System Diseases"]
["C3280415","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",316,4,"0.7149075838121606"]
["C3281191","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13",316,4,"0.6351962755291004"]
["C4310728","SEIZURES, BENIGN FAMILIAL INFANTILE, 5",316,4,"0.7149075838121606"]
["C0014804","Erythromelalgia",295,4,"0.9798909948940998","   Cardiovascular Diseases"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998","   Nervous System Diseases"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998","   Pathological Conditions, Signs and Symptoms"]
["C3178789","Widespread Chronic Pain",295,4,"0.9681508168503132","   Pathological Conditions, Signs and Symptoms"]
["C3276706","Small Fiber Neuropathy",295,4,"0.953713000278888","   Nervous System Diseases"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","   Male Urogenital Diseases"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268800","Simple renal cyst",287,4,"0.27754182989834264"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113","   Male Urogenital Diseases"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113","   Female Urogenital Diseases and Pregnancy Complications"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922","   Male Urogenital Diseases"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922","   Female Urogenital Diseases and Pregnancy Complications"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010709","Cyst",286,4,"0.314153182593162","   Neoplasms"]
["C0010709","Cyst",286,4,"0.314153182593162","   Pathological Conditions, Signs and Symptoms"]
["C0334054","cystic disease",286,4,"0.43401777605374775"]
["C1868148","Potter Type III Polycystic Kidney Disease",286,4,"0.7202711540267214"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","   Neoplasms"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","   Male Urogenital Diseases"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","   Female Urogenital Diseases and Pregnancy Complications"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632","   Endocrine System Diseases"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899","   Male Urogenital Diseases"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899","   Female Urogenital Diseases and Pregnancy Complications"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899","   Endocrine System Diseases"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875","   Male Urogenital Diseases"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875","   Female Urogenital Diseases and Pregnancy Complications"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875","   Endocrine System Diseases"]
["C3151568","NEPHROTIC SYNDROME, TYPE 4",278,4,"0.9969524000045875"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482","   Musculoskeletal Diseases"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482","   Nutritional and Metabolic Diseases"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937","   Musculoskeletal Diseases"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937","   Nutritional and Metabolic Diseases"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457","   Musculoskeletal Diseases"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457","   Nutritional and Metabolic Diseases"]
["C3150099","ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS",269,4,"0.2511528835159662"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551","   Skin and Connective Tissue Diseases"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857","   Skin and Connective Tissue Diseases"]
["C4479387","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",262,4,"0.6186581197395332"]
["C4479409","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",262,4,"0.6186581197395332"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187","   Nutritional and Metabolic Diseases"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187","   Endocrine System Diseases"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789","   Neoplasms"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789","   Digestive System Diseases"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789","   Nutritional and Metabolic Diseases"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789","   Endocrine System Diseases"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789","   Immune System Diseases"]
["C4303475","Hyperinsulinism due to HNF1A deficiency",261,4,"0.997160994457789"]
["C0586358","Biliary Intraepithelial Neoplasia",259,4,"0.859722580419669"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763","   Neoplasms"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763","   Skin and Connective Tissue Diseases"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176","   Musculoskeletal Diseases"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176","   Cardiovascular Diseases"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176","   Skin and Connective Tissue Diseases"]
["C3809005","CARDIOFACIOCUTANEOUS SYNDROME 2",259,4,"0.7421456764536136"]
["C0268124","Adenosine deaminase deficiency",243,4,"0.9961400504485656"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779","   Hemic and Lymphatic Diseases"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779","   Nutritional and Metabolic Diseases"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779","   Immune System Diseases"]
["C1863236","SCID Due to ADA Deficiency, Early-Onset",243,4,"0.9948941602845729"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729","   Hemic and Lymphatic Diseases"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729","   Nutritional and Metabolic Diseases"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729","   Immune System Diseases"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816","   Nervous System Diseases"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","   Nervous System Diseases"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","   Pathological Conditions, Signs and Symptoms"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","   Behavior and Behavior Mechanisms"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878","   Mental Disorders"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929","   Nervous System Diseases"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929","   Pathological Conditions, Signs and Symptoms"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929","   Digestive System Diseases"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929","   Nervous System Diseases"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085702","Monocytosis",211,4,"0.12792032357732802"]
["C0272183","Qualitative abnormality of granulocyte",211,4,"0.7687172741289907"]
["C2675526","Neutropenia, Severe Congenital, Autosomal Recessive 4",211,4,"0.7926872639946244","   Hemic and Lymphatic Diseases"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147","   Respiratory Tract Diseases"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147","   Cardiovascular Diseases"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147","   Hemic and Lymphatic Diseases"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135","   Infections"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135","   Stomatognathic Diseases"]
["C0221023","Cyclic neutropenia",210,4,"0.8717659801155617","   Hemic and Lymphatic Diseases"]
["C1859966","Neutropenia, Severe Congenital, Autosomal Dominant 1",210,4,"0.4452213445746989","   Hemic and Lymphatic Diseases"]
["C3671688","Cyclic Hematopoesis",210,4,"0.8786183589438135","   Hemic and Lymphatic Diseases"]
["C3151513","MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)",208,4,"0.7887256405736275"]
["C3711385","Deoxyguanosine Kinase Deficiency",208,4,"0.202928994485112","   Nutritional and Metabolic Diseases"]
["C4310733","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",208,4,"0.8277342624068593"]
["C4310735","PORTAL HYPERTENSION, NONCIRRHOTIC",208,4,"0.8277342624068593"]
["C0024291","Lymphohistiocytosis, Hemophagocytic",198,4,"0.35312140083346233","   Hemic and Lymphatic Diseases"]
["C0398794","Hypopigmentation-immunodeficiency disease",198,4,"0.3739540744581038"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","   Hemic and Lymphatic Diseases"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","   Skin and Connective Tissue Diseases"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","   Nutritional and Metabolic Diseases"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701","   Immune System Diseases"]
["C3887558","Hemophagocytic Syndrome",198,4,"0.6268040040887832"]
["C0451720","Nephrotic syndrome, focal and segmental glomerular lesions",194,4,"1.0"]
["C2902887","Nephrotic syndrome with focal and segmental hyalinosis",194,4,"1.0"]
["C2902888","Nephrotic syndrome with focal and segmental sclerosis",194,4,"1.0"]
["C2902889","Nephrotic syndrome with focal glomerulonephritis",194,4,"1.0"]
["C0085278","Antiphospholipid Syndrome",189,4,"0.6552586323302864","   Immune System Diseases"]
["C1395512","Placental dysfunction",189,4,"0.856543739091351"]
["C1836302","Carotid Intimal Medial Thickness 1",189,4,"0.856543739091351","   Cardiovascular Diseases"]
["C3875007","Nodular thyroid disease",189,4,"0.856543739091351"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066","   Skin and Connective Tissue Diseases"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066","   Nutritional and Metabolic Diseases"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069","   Skin and Connective Tissue Diseases"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069","   Nutritional and Metabolic Diseases"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892","   Skin and Connective Tissue Diseases"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892","   Nutritional and Metabolic Diseases"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556","   Skin and Connective Tissue Diseases"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556","   Nutritional and Metabolic Diseases"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937","   Musculoskeletal Diseases"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937","   Pathological Conditions, Signs and Symptoms"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937","   Musculoskeletal Diseases"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937","   Stomatognathic Diseases"]
["C1850155","TORG-WINCHESTER SYNDROME",185,4,"0.8904162511903769","   Musculoskeletal Diseases"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937"]
["C0011644","Scleroderma",182,4,"0.6767100101356879","   Skin and Connective Tissue Diseases"]
["C0036420","Localized scleroderma",182,4,"0.8924031484606498","   Skin and Connective Tissue Diseases"]
["C0263409","Linear Scleroderma",182,4,"0.8908365329532832","   Skin and Connective Tissue Diseases"]
["C1527383","Morphea",182,4,"0.8908365329532832","   Skin and Connective Tissue Diseases"]
["C0152458","Leukocoria",172,4,"0.598085851562855"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544","   Musculoskeletal Diseases"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544","   Nutritional and Metabolic Diseases"]
["C3151302","Chromosome 13q14 deletion syndrome",172,4,"0.06853308659889465"]
["C3151445","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",172,4,"0.30082344945229544"]
["C1260386","Glucocorticoid-remediable aldosteronism",158,4,"0.8397479817803102","   Endocrine System Diseases"]
["C4020743","Glucocorticoid-remediable familial primary aldosteronism",158,4,"0.9695593994273085"]
["C4020744","Familial primary hyperaldosteronism type 1",158,4,"0.9695593994273085"]
["C4023209","Dexamethasone-suppresible primary hyperaldosteronism",158,4,"0.9695593994273085"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0","   Nervous System Diseases"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0","   Cardiovascular Diseases"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0","   Nervous System Diseases"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0","   Cardiovascular Diseases"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0","   Nervous System Diseases"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0","   Cardiovascular Diseases"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0","   Nervous System Diseases"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0","   Cardiovascular Diseases"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091","   Hemic and Lymphatic Diseases"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0477317","Other primary thrombocytopenia",151,4,"0.5454733586788403"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199","   Hemic and Lymphatic Diseases"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112","   Hemic and Lymphatic Diseases"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332","   Infections"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332","   Nervous System Diseases"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777","   Infections"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777","   Nervous System Diseases"]
["C0497299","meningitis/encephalitis",132,4,"0.8961309741885334"]
["C0948264","Neuroborreliosis",132,4,"0.8961309741885332"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813","   Respiratory Tract Diseases"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062","   Respiratory Tract Diseases"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061","   Respiratory Tract Diseases"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0852283","Respiratory Distress Syndrome",118,4,"0.65512356634232"]
["C0001306","Acute alcoholic liver disease",116,4,"0.7883071854459298"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316","   Infections"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316","   Male Urogenital Diseases"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316","   Female Urogenital Diseases and Pregnancy Complications"]
["C1290344","Nonspecific interstitial pneumonia",116,4,"-0.003977874222303178"]
["C3874381","Childhood nephrotic syndrome",116,4,"0.7930542201453316"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0","   Nervous System Diseases"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0","   Mental Disorders"]
["C1834372","Narcolepsy 1",108,4,"1.0","   Nervous System Diseases"]
["C1834372","Narcolepsy 1",108,4,"1.0","   Mental Disorders"]
["C4025713","Paroxysmal drowsiness",108,4,"1.0"]
["C4543926","Narcolepsy type 1",108,4,"1.0"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","   Musculoskeletal Diseases"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","   Male Urogenital Diseases"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","   Female Urogenital Diseases and Pregnancy Complications"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483","   Nutritional and Metabolic Diseases"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","   Musculoskeletal Diseases"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","   Male Urogenital Diseases"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","   Female Urogenital Diseases and Pregnancy Complications"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202","   Nutritional and Metabolic Diseases"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","   Musculoskeletal Diseases"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","   Male Urogenital Diseases"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","   Female Urogenital Diseases and Pregnancy Complications"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065","   Nutritional and Metabolic Diseases"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","   Musculoskeletal Diseases"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","   Male Urogenital Diseases"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","   Female Urogenital Diseases and Pregnancy Complications"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127","   Nutritional and Metabolic Diseases"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688","   Musculoskeletal Diseases"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688","   Pathological Conditions, Signs and Symptoms"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Musculoskeletal Diseases"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Otorhinolaryngologic Diseases"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Nervous System Diseases"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Eye Diseases"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128","   Pathological Conditions, Signs and Symptoms"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852","   Eye Diseases"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852","   Skin and Connective Tissue Diseases"]
["C3278138","FIBROCHONDROGENESIS 1",91,4,"0.9566780682623128"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725","   Skin and Connective Tissue Diseases"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054","   Skin and Connective Tissue Diseases"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854","   Skin and Connective Tissue Diseases"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868","   Skin and Connective Tissue Diseases"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147","   Musculoskeletal Diseases"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147","   Nervous System Diseases"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147","   Nutritional and Metabolic Diseases"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147","   Musculoskeletal Diseases"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147","   Nervous System Diseases"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147","   Nutritional and Metabolic Diseases"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","   Musculoskeletal Diseases"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","   Nervous System Diseases"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","   Nutritional and Metabolic Diseases"]
["C0949496","Luft Disease",79,4,"0.8236839081654147","   Musculoskeletal Diseases"]
["C0949496","Luft Disease",79,4,"0.8236839081654147","   Nervous System Diseases"]
["C0949496","Luft Disease",79,4,"0.8236839081654147","   Nutritional and Metabolic Diseases"]
["C0011636","Dermatophytosis",78,4,"0.9010049904006909"]
["C0040247","Tinea",78,4,"0.9010049904006909","   Infections"]
["C0040247","Tinea",78,4,"0.9010049904006909","   Skin and Connective Tissue Diseases"]
["C1262313","Invasive Fungal Infections",78,4,"0.7059847213506212","   Infections"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587","   Infections"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587","   Skin and Connective Tissue Diseases"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989","   Hemic and Lymphatic Diseases"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989","   Immune System Diseases"]
["C0085663","Plasmacytosis",71,4,"0.5640227428535829"]
["C0854706","Neonatal infection",71,4,"0.7879726612329239"]
["C1304456","Congo hemorrhagic fever",71,4,"0.7879726612329239"]
["C0085655","Polymyositis",59,4,"0.8582276889857904","   Musculoskeletal Diseases"]
["C0085655","Polymyositis",59,4,"0.8582276889857904","   Nervous System Diseases"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199","   Musculoskeletal Diseases"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199","   Nervous System Diseases"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557","   Nutritional and Metabolic Diseases"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557","   Immune System Diseases"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199","   Musculoskeletal Diseases"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199","   Nervous System Diseases"]
["C0022806","Kwashiorkor",54,4,"0.8410997792706195","   Nutritional and Metabolic Diseases"]
["C0151482","Megaloblastic anemia due to folate deficiency",54,4,"0.8410997792706195"]
["C0744483","growth hormone treatment",54,4,"0.4903928473083416"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637","   Otorhinolaryngologic Diseases"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637","   Nervous System Diseases"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637","   Pathological Conditions, Signs and Symptoms"]
["C0271561","Somatotropin deficiency",52,4,"0.6066731568781064"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216","   Musculoskeletal Diseases"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216","   Nervous System Diseases"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216","   Endocrine System Diseases"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512","   Musculoskeletal Diseases"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512","   Nervous System Diseases"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512","   Endocrine System Diseases"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015","   Musculoskeletal Diseases"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015","   Nervous System Diseases"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015","   Endocrine System Diseases"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595","   Neoplasms"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595","   Nervous System Diseases"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556","   Male Urogenital Diseases"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556","   Female Urogenital Diseases and Pregnancy Complications"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2919861","Medullary cystic kidney disease type 1",51,4,"-0.03064740386634348"]
["C4025730","Renal cortical atrophy",51,4,"0.8209579156411062"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948","   Musculoskeletal Diseases"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948","   Nervous System Diseases"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948","   Cardiovascular Diseases"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948","   Skin and Connective Tissue Diseases"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948","   Pathological Conditions, Signs and Symptoms"]
["C1857813","Macular Degeneration, Age-Related, 7",44,4,"0.9996445193767856","   Eye Diseases"]
["C4225211","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",44,4,"0.9996445193767856"]
["C4293701","Status cribrosum",44,4,"0.9996445193767856"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991","   Nervous System Diseases"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991","   Cardiovascular Diseases"]
["C0149649","Cholesterol Embolism",23,4,"0.9999999999999991","   Cardiovascular Diseases"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991","   Nervous System Diseases"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991","   Cardiovascular Diseases"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991","   Nervous System Diseases"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991","   Cardiovascular Diseases"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239","   Nervous System Diseases"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239","   Cardiovascular Diseases"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792","   Nervous System Diseases"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792","   Cardiovascular Diseases"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792","   Nervous System Diseases"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792","   Cardiovascular Diseases"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792","   Nervous System Diseases"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792","   Cardiovascular Diseases"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502","   Musculoskeletal Diseases"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502","   Skin and Connective Tissue Diseases"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502","   Otorhinolaryngologic Diseases"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502","   Nervous System Diseases"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502","   Pathological Conditions, Signs and Symptoms"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776","   Otorhinolaryngologic Diseases"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776","   Nervous System Diseases"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776","   Pathological Conditions, Signs and Symptoms"]
["C3281128","FIBROCHONDROGENESIS 2",11,4,"0.9986611192663502"]
["C0038557","Submandibular Gland Diseases",7,4,"1.0","   Stomatognathic Diseases"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0","   Male Urogenital Diseases"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0","   Immune System Diseases"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0","   Male Urogenital Diseases"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0","   Immune System Diseases"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0","   Musculoskeletal Diseases"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0","   Musculoskeletal Diseases"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0","   Musculoskeletal Diseases"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225296","MENTAL RETARDATION, AUTOSOMAL DOMINANT 39",2188,3,"1.0"]
["C4225432","CHROMOSOME 2p25.3 DUPLICATION SYNDROME",2188,3,"1.0"]
["C4225433","CHROMOSOME 2p25.3 DELETION SYNDROME",2188,3,"1.0"]
["C0085417","Epilepsy, Complex Partial",2187,3,"1.0","   Nervous System Diseases"]
["C0751640","Cryptogenic Partial Complex Epilepsy",2187,3,"1.0","   Nervous System Diseases"]
["C0751641","Epilepsy, Symptomatic, Partial Complex",2187,3,"1.0","   Nervous System Diseases"]
["C0749398","Recurrent thromboembolic disease",2170,3,"1.0"]
["C2751090","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency",2170,3,"1.0","   Hemic and Lymphatic Diseases"]
["C2751091","Thrombophilia Due To Elevated Histidine-Rich Glycoprotein",2170,3,"1.0","   Hemic and Lymphatic Diseases"]
["C0795942","Fitzsimmons-Guilbert syndrome",2164,3,"1.0"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0","   Skin and Connective Tissue Diseases"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0","   Mental Disorders"]
["C4310784","MENTAL RETARDATION, AUTOSOMAL DOMINANT 41",2164,3,"1.0"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Musculoskeletal Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Stomatognathic Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Otorhinolaryngologic Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Nervous System Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Eye Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Male Urogenital Diseases"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Behavior and Behavior Mechanisms"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0","   Mental Disorders"]
["C1852750","Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation",2160,3,"1.0"]
["C3805432","COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",2160,3,"1.0"]
["C0038041","Spotted Fever Group Rickettsiosis",2152,3,"1.0","   Infections"]
["C0041471","TYPHUS",2152,3,"1.0","   Infections"]
["C0343758","Typhus group rickettsial disease",2152,3,"1.0"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618","   Skin and Connective Tissue Diseases"]
["C4011926","WHITE SPONGE NEVUS 1",2146,3,"0.4374897000674704"]
["C4014321","WHITE SPONGE NEVUS 2",2146,3,"0.24201997154868293"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607","   Musculoskeletal Diseases"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607","   Stomatognathic Diseases"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363","   Musculoskeletal Diseases"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363","   Stomatognathic Diseases"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Musculoskeletal Diseases"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Stomatognathic Diseases"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Otorhinolaryngologic Diseases"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Nervous System Diseases"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607","   Pathological Conditions, Signs and Symptoms"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723","   Nervous System Diseases"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723","   Occupational Diseases"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723","   Mental Disorders"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356","   Nervous System Diseases"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356","   Occupational Diseases"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356","   Mental Disorders"]
["C4225266","IMMUNODEFICIENCY 42",2132,3,"0.34023871987494253"]
["C0342765","D-Glyceric aciduria",2127,3,"1.0"]
["C1291386","D-glycericacidemia",2127,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1291386","D-glycericacidemia",2127,3,"1.0","   Nutritional and Metabolic Diseases"]
["C3887877","Deficiency of glycerate kinase",2127,3,"1.0"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656","   Digestive System Diseases"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656","   Animal Diseases"]
["C0483368","Human anaplasmosis due to Anaplasma phagocytophilum",2115,3,"0.23389454682244462"]
["C3151068","RETINITIS PIGMENTOSA 44",2115,3,"0.05352557818713353"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0","   Eye Diseases"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0","   Skin and Connective Tissue Diseases"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0","   Stomatognathic Diseases"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0","   Eye Diseases"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495589","Jalili syndrome",2113,3,"1.0","   Stomatognathic Diseases"]
["C3495589","Jalili syndrome",2113,3,"1.0","   Eye Diseases"]
["C3495589","Jalili syndrome",2113,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","   Digestive System Diseases"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","   Otorhinolaryngologic Diseases"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","   Nervous System Diseases"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053","   Pathological Conditions, Signs and Symptoms"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","   Digestive System Diseases"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","   Otorhinolaryngologic Diseases"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","   Nervous System Diseases"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143","   Pathological Conditions, Signs and Symptoms"]
["C4479534","TOWNES-BROCKS SYNDROME 2",2096,3,"0.20090481602953247"]
["C1847973","Persistent Polyclonal B-Cell Lymphocytosis",2095,3,"0.9979012783369534","   Hemic and Lymphatic Diseases"]
["C3554686","IMMUNODEFICIENCY 11",2095,3,"0.9989503257576544"]
["C4539957","IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS",2095,3,"0.9989503257576544"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485","   Nervous System Diseases"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485","   Respiratory Tract Diseases"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485","   Otorhinolaryngologic Diseases"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485","   Nervous System Diseases"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485","   Pathological Conditions, Signs and Symptoms"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845","   Nervous System Diseases"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845","   Nutritional and Metabolic Diseases"]
["C0035585","Rickettsia Infections",2091,3,"1.0","   Infections"]
["C0162699","Tick-Borne Infections",2091,3,"1.0","   Infections"]
["C0162700","Tick-Borne Diseases",2091,3,"1.0","   Infections"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115","   Musculoskeletal Diseases"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115","   Skin and Connective Tissue Diseases"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115","   Immune System Diseases"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321","   Musculoskeletal Diseases"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321","   Skin and Connective Tissue Diseases"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321","   Immune System Diseases"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469","   Musculoskeletal Diseases"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469","   Skin and Connective Tissue Diseases"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469","   Immune System Diseases"]
["C0268632","Homocarnosinosis",2089,3,"1.0","   Nervous System Diseases"]
["C0268632","Homocarnosinosis",2089,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268632","Homocarnosinosis",2089,3,"1.0","   Nutritional and Metabolic Diseases"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0","   Nervous System Diseases"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0","   Nutritional and Metabolic Diseases"]
["C3495555","Carnosinemia",2089,3,"1.0","   Nervous System Diseases"]
["C3495555","Carnosinemia",2089,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495555","Carnosinemia",2089,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601","   Nervous System Diseases"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601","   Nutritional and Metabolic Diseases"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021","   Nervous System Diseases"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021","   Nutritional and Metabolic Diseases"]
["C1997910","Citrin deficiency",2085,3,"0.9983849875296601"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0","   Hemic and Lymphatic Diseases"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0","   Immune System Diseases"]
["C0242770","Bronchiolitis Obliterans Organizing Pneumonia",2081,3,"1.0","   Respiratory Tract Diseases"]
["C3809768","IMMUNODEFICIENCY 13",2081,3,"1.0"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Musculoskeletal Diseases"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Nervous System Diseases"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Eye Diseases"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Pathological Conditions, Signs and Symptoms"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671","   Behavior and Behavior Mechanisms"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671","   Nervous System Diseases"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617","   Musculoskeletal Diseases"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811","   Nutritional and Metabolic Diseases"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811","   Nutritional and Metabolic Diseases"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336","   Female Urogenital Diseases and Pregnancy Complications"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624","   Female Urogenital Diseases and Pregnancy Complications"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150891","COCOON SYNDROME",2069,3,"0.7041825049843902"]
["C0341698","Atrophy of kidney",2063,3,"0.9800181943609076"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603","   Musculoskeletal Diseases"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603","   Nervous System Diseases"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603","   Eye Diseases"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603","   Pathological Conditions, Signs and Symptoms"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Musculoskeletal Diseases"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Nervous System Diseases"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Eye Diseases"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Nutritional and Metabolic Diseases"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Pathological Conditions, Signs and Symptoms"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Behavior and Behavior Mechanisms"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603","   Mental Disorders"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0","   Nervous System Diseases"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2746067","Spinocerebellar ataxia 22",2061,3,"1.0"]
["C4225340","BRUGADA SYNDROME 9",2061,3,"1.0"]
["C0748903","spinal cord involvement",2059,3,"0.5687426290587779"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036","   Nervous System Diseases"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036","   Nutritional and Metabolic Diseases"]
["C3809008","HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY",2059,3,"0.13177922814717405"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953","   Nervous System Diseases"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953","   Pathological Conditions, Signs and Symptoms"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953","   Nervous System Diseases"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953","   Pathological Conditions, Signs and Symptoms"]
["C3538999","DYSTONIA 23",2057,3,"0.5685229120141311"]
["C0339383","Choroidal and/or chorioretinal disorder",2051,3,"1.0"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Musculoskeletal Diseases"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Nervous System Diseases"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Eye Diseases"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0","   Musculoskeletal Diseases"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0","   Nervous System Diseases"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0","   Eye Diseases"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923","   Musculoskeletal Diseases"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338","   Musculoskeletal Diseases"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338","   Male Urogenital Diseases"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338","   Female Urogenital Diseases and Pregnancy Complications"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499","   Musculoskeletal Diseases"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499","   Stomatognathic Diseases"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499","   Eye Diseases"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263874","Degeneration of lumbar intervertebral disc",2042,3,"0.48952620884826686"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715","   Musculoskeletal Diseases"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715","   Pathological Conditions, Signs and Symptoms"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621","   Musculoskeletal Diseases"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621","   Pathological Conditions, Signs and Symptoms"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0","   Nutritional and Metabolic Diseases"]
["C4024950","Nonprogressive encephalopathy",2039,3,"1.0"]
["C4540014","VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",2039,3,"1.0"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Musculoskeletal Diseases"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Stomatognathic Diseases"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Eye Diseases"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Skin and Connective Tissue Diseases"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591","   Pathological Conditions, Signs and Symptoms"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591","   Skin and Connective Tissue Diseases"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625","   Stomatognathic Diseases"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625","   Eye Diseases"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314","   Musculoskeletal Diseases"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314","   Nervous System Diseases"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314","   Cardiovascular Diseases"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193","   Nervous System Diseases"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193","   Pathological Conditions, Signs and Symptoms"]
["C4225419","RITSCHER-SCHINZEL SYNDROME 2",2028,3,"0.2945519152029828"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818","   Musculoskeletal Diseases"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818","   Skin and Connective Tissue Diseases"]
["C0341007","Alveolar ridge abnormality",2027,3,"0.9714367058705354"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983","   Musculoskeletal Diseases"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983","   Stomatognathic Diseases"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0040947","Trichostrongyloidiasis",2025,3,"1.0"]
["C3150923","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",2025,3,"1.0"]
["C4013764","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES",2025,3,"1.0"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0","   Neoplasms"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0","   Musculoskeletal Diseases"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0","   Stomatognathic Diseases"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0","   Cardiovascular Diseases"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0","   Neoplasms"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150127","BARDET-BIEDL SYNDROME 15",2024,3,"1.0"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399","   Skin and Connective Tissue Diseases"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399","   Nutritional and Metabolic Diseases"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156","   Skin and Connective Tissue Diseases"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156","   Nutritional and Metabolic Diseases"]
["C3151404","AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",2023,3,"0.6895241324332145"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Musculoskeletal Diseases"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Stomatognathic Diseases"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Nervous System Diseases"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Pathological Conditions, Signs and Symptoms"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Behavior and Behavior Mechanisms"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985","   Mental Disorders"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Musculoskeletal Diseases"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Stomatognathic Diseases"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Nervous System Diseases"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Pathological Conditions, Signs and Symptoms"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Behavior and Behavior Mechanisms"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524","   Mental Disorders"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988","   Cardiovascular Diseases"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988","   Skin and Connective Tissue Diseases"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574","   Cardiovascular Diseases"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574","   Skin and Connective Tissue Diseases"]
["C3280296","Microcephaly-capillary malformation syndrome",2020,3,"0.2606335725477711"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679","   Musculoskeletal Diseases"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679","   Male Urogenital Diseases"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679","   Female Urogenital Diseases and Pregnancy Complications"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029","   Musculoskeletal Diseases"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029","   Male Urogenital Diseases"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029","   Female Urogenital Diseases and Pregnancy Complications"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2921112","Septate uterus, complete or partial",2014,3,"0.9995763003557029"]
["C0271836","X-linked reduction of thyroxine-binding globulin",2010,3,"1.0"]
["C1839141","Thyroxine-Binding Globulin Deficiency",2010,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711378","Inherited Thyroxine-Binding Globulin Deficiency",2010,3,"1.0","   Endocrine System Diseases"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556","   Nervous System Diseases"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001","   Nervous System Diseases"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001","   Eye Diseases"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001","   Nervous System Diseases"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001","   Eye Diseases"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0","   Nervous System Diseases"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1854058","SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",1988,3,"1.0","   Nervous System Diseases"]
["C1866777","Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",1988,3,"1.0","   Nervous System Diseases"]
["C0393555","Pure hereditary spastic paraplegia",1987,3,"1.0"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0","   Nervous System Diseases"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0","   Nervous System Diseases"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717","   Infections"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717","   Respiratory Tract Diseases"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353","   Nutritional and Metabolic Diseases"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353","   Endocrine System Diseases"]
["C4274079","Bile acid CoA ligase deficiency and defective amidation",1986,3,"0.22106619772570074"]
["C1867315","Retinal Nonattachment And Falciform Detachment",1980,3,"0.7175213063989154"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154","   Eye Diseases"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151617","ANTERIOR SEGMENT DYSGENESIS 7",1980,3,"0.39625116947742944"]
["C0030508","Parasomnia",1962,3,"1.0","   Nervous System Diseases"]
["C0030508","Parasomnia",1962,3,"1.0","   Mental Disorders"]
["C1868570","CHAR SYNDROME",1962,3,"1.0","   Cardiovascular Diseases"]
["C1868570","CHAR SYNDROME",1962,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4284595","PATENT DUCTUS ARTERIOSUS 2",1962,3,"1.0"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Musculoskeletal Diseases"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Nervous System Diseases"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Eye Diseases"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Pathological Conditions, Signs and Symptoms"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Behavior and Behavior Mechanisms"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676","   Mental Disorders"]
["C3150191","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities",1948,3,"0.9200101486139004"]
["C4317224","Congenital disorder of glycosylation type 1q",1948,3,"0.7586903336298874"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817","   Hemic and Lymphatic Diseases"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817","   Immune System Diseases"]
["C4025196","Recurrent systemic pyogenic infections",1942,3,"0.999416310286182"]
["C4304022","Attenuated ChÃ©diak-Higashi syndrome",1942,3,"0.999416310286182"]
["C1843791","CARDIOMYOPATHY, DILATED, 1N",1941,3,"1.0","   Cardiovascular Diseases"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0","   Musculoskeletal Diseases"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0","   Nervous System Diseases"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225408","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",1941,3,"1.0"]
["C1838299","Peroxisome Biogenesis Disorder, Complementation Group 14",1936,3,"1.0"]
["C1838300","Peroxisome Biogenesis Disorder, Complementation Group J",1936,3,"1.0"]
["C3554002","PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)",1936,3,"1.0"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0","   Nervous System Diseases"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0268221","Fucosidosis Type I",1935,3,"1.0","   Nervous System Diseases"]
["C0268221","Fucosidosis Type I",1935,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268221","Fucosidosis Type I",1935,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0268222","Fucosidosis Type II",1935,3,"1.0","   Nervous System Diseases"]
["C0268222","Fucosidosis Type II",1935,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268222","Fucosidosis Type II",1935,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991","   Pathological Conditions, Signs and Symptoms"]
["C1837549","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",1933,3,"0.9213910597659157","   Musculoskeletal Diseases"]
["C1853296","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3",1933,3,"0.8823924145580664","   Musculoskeletal Diseases"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0740749","Chronic metabolic acidosis",1928,3,"1.0"]
["C1856399","Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",1928,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1841989","Glomerulonephritis sparse hair telangiectases",1927,3,"1.0"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0","   Cardiovascular Diseases"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0","   Skin and Connective Tissue Diseases"]
["C4317151","Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",1927,3,"1.0"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112","   Nervous System Diseases"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112","   Nutritional and Metabolic Diseases"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841","   Nervous System Diseases"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841","   Nutritional and Metabolic Diseases"]
["C1879362","Hypertyrosinemia",1922,3,"0.8588806966598388"]
["C1864356","ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",1913,3,"0.9943563839217691","   Musculoskeletal Diseases"]
["C4014690","EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",1913,3,"0.9971774483802369"]
["C4225399","SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES",1913,3,"0.9971774483802369"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948","   Otorhinolaryngologic Diseases"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948","   Nervous System Diseases"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948","   Pathological Conditions, Signs and Symptoms"]
["C4015542","NEPHRONOPHTHISIS 19",1909,3,"0.9924594449072948"]
["C4479344","SCLEROSING CHOLANGITIS, NEONATAL",1909,3,"0.9849411022011099"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","   Female Urogenital Diseases and Pregnancy Complications"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","   Hemic and Lymphatic Diseases"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","   Immune System Diseases"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524","   Nervous System Diseases"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524","   Pathological Conditions, Signs and Symptoms"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524","   Chemically-Induced Disorders"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524","   Nervous System Diseases"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524","   Pathological Conditions, Signs and Symptoms"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524","   Chemically-Induced Disorders"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688"]
["C0235946","Cerebral atrophy",1900,3,"0.6108245095183256"]
["C4020860","Supratentorial atrophy",1900,3,"0.7572480642891091"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0","   Nervous System Diseases"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280977","SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",1897,3,"1.0"]
["C4274988","Spinocerebellar ataxia type 28",1897,3,"1.0"]
["C1858477","Epilepsy, Partial, with Variable Foci",1895,3,"0.348071332974478","   Nervous System Diseases"]
["C4310708","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",1895,3,"0.19514242380157906"]
["C4310709","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",1895,3,"0.19514242380157906"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048","   Skin and Connective Tissue Diseases"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048","   Pathological Conditions, Signs and Symptoms"]
["C3148823","WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",1893,3,"0.9960886677518175"]
["C3148824","WH/HT",1893,3,"0.9960886677518175"]
["C1848435","WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",1892,3,"0.5827144378236757"]
["C1854310","Hypotrichosis simplex",1892,3,"0.1837819997464611","   Skin and Connective Tissue Diseases"]
["C3279470","HYPOTRICHOSIS 8",1892,3,"0.6960132188769539","   Skin and Connective Tissue Diseases"]
["C1366911","Cerebral Cavernous Malformations 1",1890,3,"0.9989230515253277"]
["C1861785","Cavernous Malformations of CNS and Retina",1890,3,"0.9994625329171823"]
["C1861786","Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations",1890,3,"0.9994625329171823"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634","   Nervous System Diseases"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634","   Pathological Conditions, Signs and Symptoms"]
["C0001338","Herpetic Acute Necrotizing Encephalitis",1881,3,"0.8495956933717724","   Nervous System Diseases"]
["C0019385","Herpetic meningoencephalitis",1881,3,"0.9281142004175484","   Nervous System Diseases"]
["C0276226","Herpes encephalitis",1881,3,"0.9106485268209112","   Nervous System Diseases"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","   Respiratory Tract Diseases"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","   Nervous System Diseases"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534","   Respiratory Tract Diseases"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534","   Nervous System Diseases"]
["C4225349","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA",1879,3,"0.7123240917271534"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234","   Male Urogenital Diseases"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234","   Female Urogenital Diseases and Pregnancy Complications"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234","   Endocrine System Diseases"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334","   Male Urogenital Diseases"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334","   Female Urogenital Diseases and Pregnancy Complications"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334","   Endocrine System Diseases"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","   Respiratory Tract Diseases"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","   Male Urogenital Diseases"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","   Female Urogenital Diseases and Pregnancy Complications"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334","   Endocrine System Diseases"]
["C0543697","Mixed cryoglobulinemia",1868,3,"0.42793889561978304"]
["C3542922","IMMUNODEFICIENCY, COMMON VARIABLE, 7",1868,3,"0.012789108690259137"]
["C3554540","LYMPHOPROLIFERATIVE SYNDROME 2",1868,3,"0.2270189344199347"]
["C0020800","Idiopathic Hypercatabolic Hypoproteinemia",1866,3,"0.9532340651889991","   Digestive System Diseases"]
["C0033680","Protein-Losing Enteropathies",1866,3,"0.8918414272593603","   Digestive System Diseases"]
["C4538570","COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",1866,3,"0.9532340651889991"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","   Musculoskeletal Diseases"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","   Nervous System Diseases"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","   Eye Diseases"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291","   Skin and Connective Tissue Diseases"]
["C4225382","COLE-CARPENTER SYNDROME 2",1859,3,"0.31820989922858894"]
["C4317154","COLE-CARPENTER SYNDROME 1",1859,3,"0.2690631429428057"]
["C0152136","Low Tension Glaucoma",1857,3,"0.6895494718443996","   Eye Diseases"]
["C0393729","Immersion Related Epilepsy",1857,3,"0.8588056389000274","   Nervous System Diseases"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Nervous System Diseases"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Male Urogenital Diseases"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Nutritional and Metabolic Diseases"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Pathological Conditions, Signs and Symptoms"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Behavior and Behavior Mechanisms"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541","   Mental Disorders"]
["C3280479","PITT-HOPKINS-LIKE SYNDROME 2",1856,3,"1.0"]
["C3280524","SCHIZOPHRENIA 17",1856,3,"1.0"]
["C3808494","CHROMOSOME 2p16.3 DELETION SYNDROME",1856,3,"1.0"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Neoplasms"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Musculoskeletal Diseases"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Nervous System Diseases"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Skin and Connective Tissue Diseases"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393","   Nutritional and Metabolic Diseases"]
["C3806565","XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",1853,3,"0.9701802351769376"]
["C3808988","FANCONI ANEMIA, COMPLEMENTATION GROUP Q",1853,3,"0.9701802351769376"]
["C3809811","PARKINSON DISEASE 19A, JUVENILE-ONSET",1848,3,"0.7779017889053547"]
["C4310802","PARKINSON DISEASE 19B, EARLY-ONSET",1848,3,"0.7779017889053547"]
["C4510873","Atypical juvenile parkinsonism",1848,3,"0.0"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503","   Nervous System Diseases"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503","   Nutritional and Metabolic Diseases"]
["C1851920","Dopa-Responsive Dystonia",1838,3,"0.7381031668122107","   Nervous System Diseases"]
["C2673535","DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",1838,3,"0.37246962795044164","   Nervous System Diseases"]
["C0042345","Varicosity",1837,3,"0.15021081890586396","   Cardiovascular Diseases"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988","   Musculoskeletal Diseases"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988","   Cardiovascular Diseases"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988","   Skin and Connective Tissue Diseases"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988","   Nutritional and Metabolic Diseases"]
["C3810170","DEAFNESS, AUTOSOMAL DOMINANT 56",1837,3,"0.03571767562373238"]
["C0005395","Bile Duct Diseases",1826,3,"0.7410174652844066","   Digestive System Diseases"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","   Digestive System Diseases"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","   Skin and Connective Tissue Diseases"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","   Nutritional and Metabolic Diseases"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478","   Digestive System Diseases"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478","   Skin and Connective Tissue Diseases"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478","   Nutritional and Metabolic Diseases"]
["C0023092","Lassa Fever",1825,3,"1.0"]
["C3151184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",1825,3,"1.0"]
["C4225291","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",1825,3,"1.0"]
["C1858386","Leber Congenital Amaurosis 4",1821,3,"1.0","   Eye Diseases"]
["C2751763","Retinitis Pigmentosa, Juvenile, Aipl1-Related",1821,3,"1.0","   Eye Diseases"]
["C2751764","CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)",1821,3,"1.0","   Eye Diseases"]
["C0030569","Secondary Parkinson Disease",1815,3,"1.0","   Nervous System Diseases"]
["C0751414","Parkinson Disease, Secondary Vascular",1815,3,"1.0","   Nervous System Diseases"]
["C0751415","Atherosclerotic Parkinsonism",1815,3,"1.0","   Nervous System Diseases"]
["C0019050","Hemoglobinuria, Paroxysmal",1806,3,"0.8575029885859068","   Hemic and Lymphatic Diseases"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564","   Hemic and Lymphatic Diseases"]
["C0086774","Cold paroxysmal hemoglobinuria",1806,3,"0.8560542491747499","   Hemic and Lymphatic Diseases"]
["C0158962","Hemolytic disease of fetus OR newborn due to RhD isoimmunization",1804,3,"0.8028804708317344"]
["C1263988","Hemolytic disorder",1804,3,"0.4778547659029687"]
["C3698348","Anti-D isoimmunization affecting pregnancy",1804,3,"0.7861702116869942"]
["C0272052","Rh Deficiency Syndrome",1803,3,"0.7511318301054977","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849387","Rh-Null, Regulator Type",1803,3,"0.8359234306347942","   Hemic and Lymphatic Diseases"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052","   Hemic and Lymphatic Diseases"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052","   Nutritional and Metabolic Diseases"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591","   Respiratory Tract Diseases"]
["C0032300","Lobar Pneumonia",1802,3,"0.9255647625813682","   Respiratory Tract Diseases"]
["C3714636","Pneumonitis",1802,3,"0.9325632566281837","   Respiratory Tract Diseases"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326","   Hemic and Lymphatic Diseases"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387","   Skin and Connective Tissue Diseases"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387","   Nutritional and Metabolic Diseases"]
["C4225289","EPILEPSY, PROGRESSIVE MYOCLONIC, 9",1801,3,"0.7755009700527273"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449","   Otorhinolaryngologic Diseases"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449","   Nervous System Diseases"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449","   Pathological Conditions, Signs and Symptoms"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579","   Otorhinolaryngologic Diseases"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579","   Nervous System Diseases"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579","   Pathological Conditions, Signs and Symptoms"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889","   Otorhinolaryngologic Diseases"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889","   Nervous System Diseases"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889","   Pathological Conditions, Signs and Symptoms"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0","   Nutritional and Metabolic Diseases"]
["C3550693","PEROXISOME BIOGENESIS DISORDER 3B",1790,3,"1.0"]
["C3553929","PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)",1790,3,"1.0"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447","   Musculoskeletal Diseases"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447","   Nervous System Diseases"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447","   Nutritional and Metabolic Diseases"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517","   Musculoskeletal Diseases"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517","   Nervous System Diseases"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517","   Nutritional and Metabolic Diseases"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517","   Musculoskeletal Diseases"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517","   Nervous System Diseases"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517","   Nutritional and Metabolic Diseases"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382","   Musculoskeletal Diseases"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382","   Nervous System Diseases"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382","   Nutritional and Metabolic Diseases"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502","   Musculoskeletal Diseases"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502","   Nervous System Diseases"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502","   Nutritional and Metabolic Diseases"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","   Musculoskeletal Diseases"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","   Nervous System Diseases"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","   Nutritional and Metabolic Diseases"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0","   Musculoskeletal Diseases"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0","   Nervous System Diseases"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0","   Nutritional and Metabolic Diseases"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0","   Musculoskeletal Diseases"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0","   Nervous System Diseases"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0","   Nutritional and Metabolic Diseases"]
["C2931894","Mucolipidosis 2",1780,3,"1.0","   Musculoskeletal Diseases"]
["C2931894","Mucolipidosis 2",1780,3,"1.0","   Nervous System Diseases"]
["C2931894","Mucolipidosis 2",1780,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931894","Mucolipidosis 2",1780,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1857144","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",1779,3,"0.39096744761216035"]
["C3151441","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",1779,3,"0.2588869415408644"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873","   Skin and Connective Tissue Diseases"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","   Nervous System Diseases"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","   Cardiovascular Diseases"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","   Nutritional and Metabolic Diseases"]
["C1706559","Cornea verticillata",1775,3,"0.9732926826845234"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344","   Nervous System Diseases"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344","   Cardiovascular Diseases"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344","   Nutritional and Metabolic Diseases"]
["C0949855","Electron Transport Chain Deficiencies, Mitochondrial",1774,3,"0.9996297667474157","   Nutritional and Metabolic Diseases"]
["C0949856","Oxidative Phosphorylation Deficiencies",1774,3,"0.9994447643342457","   Nutritional and Metabolic Diseases"]
["C0949857","Mitochondrial Respiratory Chain Deficiencies",1774,3,"0.9994447643342457","   Nutritional and Metabolic Diseases"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761","   Nervous System Diseases"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761","   Nutritional and Metabolic Diseases"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867","   Nervous System Diseases"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867","   Nutritional and Metabolic Diseases"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867","   Nervous System Diseases"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867","   Nutritional and Metabolic Diseases"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684","   Nervous System Diseases"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684","   Nutritional and Metabolic Diseases"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147","   Nervous System Diseases"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147","   Nutritional and Metabolic Diseases"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583","   Nervous System Diseases"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583","   Nutritional and Metabolic Diseases"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0","   Nervous System Diseases"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3552236","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",1750,3,"1.0"]
["C4024960","Unilateral polymicrogyria",1750,3,"1.0"]
["C0017178","Gastrointestinal Diseases",1742,3,"0.9969676479693609","   Digestive System Diseases"]
["C0559031","Functional Gastrointestinal Disorders",1742,3,"0.9984558439313651","   Digestive System Diseases"]
["C1565321","Cholera Infantum",1742,3,"0.998489064790591","   Digestive System Diseases"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748","   Musculoskeletal Diseases"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4072877","Scalp folds",1739,3,"0.9999999999999748"]
["C0003175","Anthrax disease",1736,3,"0.6264321207454795","   Infections"]
["C0017567","Gingival Hypertrophy",1736,3,"0.35725477632624814","   Stomatognathic Diseases"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959","   Skin and Connective Tissue Diseases"]
["C1832841","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",1730,3,"0.5501669211630772","   Nervous System Diseases"]
["C1842852","EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2",1730,3,"0.205518699249844","   Nervous System Diseases"]
["C3809374","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5",1730,3,"0.22496788737224574"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674","   Pathological Conditions, Signs and Symptoms"]
["C3809288","LEFT VENTRICULAR NONCOMPACTION 8",1726,3,"0.5689775839107454"]
["C3809289","CARDIOMYOPATHY, DILATED, 1LL",1726,3,"0.5689775839107454"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1336820","Treatment-Induced Anemia",1723,3,"1.0"]
["C4225256","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",1723,3,"1.0"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777","   Nervous System Diseases"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777","   Cardiovascular Diseases"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777","   Nutritional and Metabolic Diseases"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777","   Immune System Diseases"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056","   Musculoskeletal Diseases"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056","   Nervous System Diseases"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056","   Nutritional and Metabolic Diseases"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056","   Pathological Conditions, Signs and Symptoms"]
["C4012790","Ataxia-Telangiectasisa-Like Disorder 1",1712,3,"0.6228357668453862"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357","   Nutritional and Metabolic Diseases"]
["C1291266","Deficiency of aldehyde oxidase",1707,3,"0.9804894260217336"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336","   Nutritional and Metabolic Diseases"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214","   Nervous System Diseases"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214","   Cardiovascular Diseases"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978","   Neoplasms"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978","   Hemic and Lymphatic Diseases"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3896960","Childhood Pre-B Acute Lymphoblastic Leukemia",1705,3,"-0.027256490904037218"]
["C1854776","Infantile cardiomyopathy",1703,3,"0.979530290173549"]
["C3279793","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8",1703,3,"0.958339283945338"]
["C4014588","LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",1703,3,"0.979530290173549"]
["C0033046","Premenstrual syndrome",1702,3,"0.966480153099697","   Pathological Conditions, Signs and Symptoms"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319","   Pathological Conditions, Signs and Symptoms"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697","   Musculoskeletal Diseases"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697","   Eye Diseases"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242","   Musculoskeletal Diseases"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242","   Nervous System Diseases"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739","   Musculoskeletal Diseases"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739","   Nervous System Diseases"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4275181","Autosomal recessive limb girdle muscular dystrophy type 2A",1701,3,"0.9992510185641242"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087","   Nervous System Diseases"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087","   Nutritional and Metabolic Diseases"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701","   Nervous System Diseases"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701","   Nutritional and Metabolic Diseases"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739","   Nervous System Diseases"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739","   Nutritional and Metabolic Diseases"]
["C1857079","Atretic auditory canal",1696,3,"0.024189804135687224"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","   Musculoskeletal Diseases"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","   Stomatognathic Diseases"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","   Otorhinolaryngologic Diseases"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779","   Pathological Conditions, Signs and Symptoms"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577","   Neoplasms"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577","   Digestive System Diseases"]
["C0027743","Nerve compression syndrome",1688,3,"0.8472684661866572","   Nervous System Diseases"]
["C1510429","Entrapment Neuropathies",1688,3,"0.8472684661866572","   Nervous System Diseases"]
["C4225250","SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",1688,3,"0.6890086092574034"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773","   Nervous System Diseases"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773","   Skin and Connective Tissue Diseases"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773","   Pathological Conditions, Signs and Symptoms"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773","   Behavior and Behavior Mechanisms"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773","   Mental Disorders"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146","   Nervous System Diseases"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146","   Skin and Connective Tissue Diseases"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146","   Pathological Conditions, Signs and Symptoms"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146","   Behavior and Behavior Mechanisms"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146","   Mental Disorders"]
["C4015557","AMELOGENESIS IMPERFECTA, TYPE IH",1686,3,"0.09544266829805154"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0","   Nutritional and Metabolic Diseases"]
["C4024919","Spinocerebellar tract disease in lower limbs",1672,3,"1.0"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533","   Nervous System Diseases"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533","   Eye Diseases"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533","   Cardiovascular Diseases"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285","   Nervous System Diseases"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109","   Nervous System Diseases"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109","   Nutritional and Metabolic Diseases"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438","   Skin and Connective Tissue Diseases"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438","   Nutritional and Metabolic Diseases"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779","   Musculoskeletal Diseases"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Musculoskeletal Diseases"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Cardiovascular Diseases"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Skin and Connective Tissue Diseases"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Nutritional and Metabolic Diseases"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779","   Endocrine System Diseases"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635","   Male Urogenital Diseases"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635","   Female Urogenital Diseases and Pregnancy Complications"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635","   Nutritional and Metabolic Diseases"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635","   Pathological Conditions, Signs and Symptoms"]
["C3554689","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",1661,3,"0.9997837179499807"]
["C4014934","IMMUNODEFICIENCY 36",1661,3,"0.9997837179499807"]
["C0026618","Dental Fluorosis, Acquired",1660,3,"0.5243431378048634","   Stomatognathic Diseases"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511","   Nervous System Diseases"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511","   Eye Diseases"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280660","ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",1660,3,"0.7324175848311858"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0","   Nutritional and Metabolic Diseases"]
["C3553947","PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)",1659,3,"1.0"]
["C3553948","PEROXISOME BIOGENESIS DISORDER 6B",1659,3,"1.0"]
["C4539714","MECKEL SYNDROME 13",1656,3,"1.0"]
["C4539715","JOUBERT SYNDROME 29",1656,3,"1.0"]
["C4539729","OROFACIODIGITAL SYNDROME XVI",1656,3,"1.0"]
["C0033141","Cardiomyopathies, Primary",1651,3,"0.9490350504622265","   Cardiovascular Diseases"]
["C0036529","Myocardial Diseases, Secondary",1651,3,"0.9490478822467757","   Cardiovascular Diseases"]
["C0878544","Cardiomyopathies",1651,3,"0.8935952248165085","   Cardiovascular Diseases"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982","   Nervous System Diseases"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982","   Nutritional and Metabolic Diseases"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231","   Nervous System Diseases"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231","   Nutritional and Metabolic Diseases"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108","   Nervous System Diseases"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108","   Nutritional and Metabolic Diseases"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818","   Musculoskeletal Diseases"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818","   Nutritional and Metabolic Diseases"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623","   Musculoskeletal Diseases"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623","   Nutritional and Metabolic Diseases"]
["C0747078","Generalized osteopenia",1642,3,"0.09313533783521795"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0","   Neoplasms"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Neoplasms"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Musculoskeletal Diseases"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Nervous System Diseases"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Skin and Connective Tissue Diseases"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0","   Nutritional and Metabolic Diseases"]
["C4225344","TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",1640,3,"1.0"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","   Nervous System Diseases"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","   Nutritional and Metabolic Diseases"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324","   Nervous System Diseases"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324","   Nutritional and Metabolic Diseases"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776","   Nervous System Diseases"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776","   Nutritional and Metabolic Diseases"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197","   Hemic and Lymphatic Diseases"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197","   Immune System Diseases"]
["C0451697","Immunodeficiency following hereditary defective response to Epstein-Barr virus",1625,3,"0.7507871873692012"]
["C1264624","Fatal infectious mononucleosis",1625,3,"0.7507871873692012"]
["C0795842","chromosome 11q duplication syndrome",1615,3,"0.994706033041004","   Pathological Conditions, Signs and Symptoms"]
["C3150803","NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.9887721518740699"]
["C4016301","NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.994706033041004"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511","   Hemic and Lymphatic Diseases"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511","   Nutritional and Metabolic Diseases"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511","   Hemic and Lymphatic Diseases"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511","   Nutritional and Metabolic Diseases"]
["C3469521","FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",1605,3,"0.5636886029201941"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041","   Hemic and Lymphatic Diseases"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041","   Nutritional and Metabolic Diseases"]
["C0272027","Pyridoxine-responsive sideroblastic anemia",1604,3,"0.7589362110647558"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036","   Digestive System Diseases"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036","   Respiratory Tract Diseases"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036","   Pathological Conditions, Signs and Symptoms"]
["C0029106","Opisthorchiasis",1601,3,"1.0"]
["C0277004","Opisthorchis felineus Infection",1601,3,"1.0"]
["C0277005","Opisthorchis viverrini Infection",1601,3,"1.0"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394","   Hemic and Lymphatic Diseases"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394","   Nutritional and Metabolic Diseases"]
["C0342701","Transcobalamin II deficiency",1600,3,"0.12675202265221647"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856","   Hemic and Lymphatic Diseases"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856","   Nutritional and Metabolic Diseases"]
["C0002888","Anemia, Megaloblastic",1599,3,"0.3113814700916742","   Hemic and Lymphatic Diseases"]
["C0016412","Folic Acid Deficiency",1599,3,"0.5937557280258959","   Nutritional and Metabolic Diseases"]
["C3151205","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency",1599,3,"0.7022937679332074","   Hemic and Lymphatic Diseases"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0","   Nervous System Diseases"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0","   Nervous System Diseases"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0","   Nervous System Diseases"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1837148","MYOPIA 6 (disorder)",1597,3,"0.606976978666884","   Eye Diseases"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","   Musculoskeletal Diseases"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","   Nervous System Diseases"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","   Cardiovascular Diseases"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343","   Nutritional and Metabolic Diseases"]
["C2931111","Myopia, susceptibility to",1597,3,"0.606976978666884","   Eye Diseases"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474","   Stomatognathic Diseases"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474","   Nervous System Diseases"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784","   Stomatognathic Diseases"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784","   Nervous System Diseases"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784","   Stomatognathic Diseases"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784","   Nervous System Diseases"]
["C1955741","Glucocorticoid deficiency",1593,3,"0.14891614791697927"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764","   Nutritional and Metabolic Diseases"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764","   Endocrine System Diseases"]
["C4049714","Familial Glucocorticoid Deficiency Type 2",1593,3,"0.25484786257589775","   Endocrine System Diseases"]
["C1291611","Deficiency of glucose-6-phosphate isomerase",1592,3,"1.0"]
["C3150730","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",1592,3,"1.0"]
["C4025184","Spontaneous hemolytic crises",1592,3,"1.0"]
["C0395837","Stenosis of external auditory canal",1591,3,"0.1918902462414706"]
["C0796117","Pitt-Rogers-Danks Syndrome",1591,3,"0.5489463610066461","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1956097","Wolf-Hirschhorn Syndrome",1591,3,"0.5806709883240742","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0036690","Septicemia",1590,3,"0.9509921932341228","   Infections"]
["C0036690","Septicemia",1590,3,"0.9509921932341228","   Pathological Conditions, Signs and Symptoms"]
["C0243026","Sepsis",1590,3,"0.957037617548331","   Infections"]
["C0243026","Sepsis",1590,3,"0.957037617548331","   Pathological Conditions, Signs and Symptoms"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135","   Infections"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135","   Pathological Conditions, Signs and Symptoms"]
["C0271801","Central hypothyroidism",1587,3,"0.656909284363833","   Endocrine System Diseases"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874","   Endocrine System Diseases"]
["C4316995","Primary Hypothyroidism",1587,3,"0.5898037728754693","   Endocrine System Diseases"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Musculoskeletal Diseases"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Nervous System Diseases"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Male Urogenital Diseases"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Female Urogenital Diseases and Pregnancy Complications"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224","   Pathological Conditions, Signs and Symptoms"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162","   Nervous System Diseases"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177","   Pathological Conditions, Signs and Symptoms"]
["C0477362","Other specified extrapyramidal and movement disorders",1584,3,"0.6653449434725934"]
["C3553288","HYPEREKPLEXIA 3",1584,3,"0.21501948255422285"]
["C3553291","HYPEREKPLEXIA 2",1584,3,"0.3040977728098021"]
["C3554398","SPINAL MUSCULAR ATROPHY, JOKELA TYPE",1581,3,"1.0"]
["C4014648","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2",1581,3,"1.0"]
["C4015513","MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",1581,3,"1.0"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0","   Musculoskeletal Diseases"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0","   Eye Diseases"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3715164","LEBER CONGENITAL AMAUROSIS 17",1578,3,"1.0"]
["C3150967","KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",1577,3,"0.9039202345277295"]
["C3150968","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6",1577,3,"0.6228390306071097"]
["C3150969","MICROPHTHALMIA, ISOLATED 7",1577,3,"0.9039202345277295"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0","   Eye Diseases"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0","   Eye Diseases"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0","   Eye Diseases"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997","   Eye Diseases"]
["C1853392","Interleukin 2 Receptor, Alpha, Deficiency of",1563,3,"0.9994186046050487","   Immune System Diseases"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997","   Nutritional and Metabolic Diseases"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997","   Endocrine System Diseases"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997","   Immune System Diseases"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187","   Eye Diseases"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027","   Digestive System Diseases"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027","   Nervous System Diseases"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027","   Eye Diseases"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456","   Nervous System Diseases"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456","   Eye Diseases"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","   Nervous System Diseases"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","   Nutritional and Metabolic Diseases"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356","   Nervous System Diseases"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356","   Nutritional and Metabolic Diseases"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","   Musculoskeletal Diseases"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","   Nervous System Diseases"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","   Skin and Connective Tissue Diseases"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026","   Pathological Conditions, Signs and Symptoms"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","   Musculoskeletal Diseases"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","   Nervous System Diseases"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","   Skin and Connective Tissue Diseases"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342","   Pathological Conditions, Signs and Symptoms"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","   Musculoskeletal Diseases"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","   Nervous System Diseases"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","   Skin and Connective Tissue Diseases"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559","   Pathological Conditions, Signs and Symptoms"]
["C0032197","Platelet Storage Pool Deficiency",1549,3,"0.33774002271700443","   Hemic and Lymphatic Diseases"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","   Eye Diseases"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","   Hemic and Lymphatic Diseases"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","   Skin and Connective Tissue Diseases"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","   Nutritional and Metabolic Diseases"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","   Eye Diseases"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","   Hemic and Lymphatic Diseases"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","   Skin and Connective Tissue Diseases"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896","   Nutritional and Metabolic Diseases"]
["C1969032","Cataract, Autosomal Dominant, Multiple Types 1",1544,3,"0.9818921622111928","   Eye Diseases"]
["C3808115","CATARACT 12, MULTIPLE TYPES",1544,3,"0.9640131352322965"]
["C4021566","Progressive cataract",1544,3,"0.9818921622111928"]
["C0858617","Posterior subcapsular cataract",1540,3,"0.052711213386187644"]
["C1112768","Anterior subcapsular cataract",1540,3,"0.7180967726171851"]
["C1854311","Cataract, posterior polar, 3",1540,3,"0.7180967726171851","   Eye Diseases"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868","   Eye Diseases"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852438","CATARACT, COPPOCK-LIKE",1537,3,"0.5723004159825456","   Eye Diseases"]
["C1861829","Cataract microcornea syndrome",1537,3,"0.3577739220403943","   Eye Diseases"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257","   Eye Diseases"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257","   Cardiovascular Diseases"]
["C3553494","CATARACT 38",1532,3,"0.9172248741417512"]
["C4025277","Exercise-induced lactic acidemia",1532,3,"0.9172248741417512"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625","   Musculoskeletal Diseases"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625","   Skin and Connective Tissue Diseases"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625","   Endocrine System Diseases"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108","   Skin and Connective Tissue Diseases"]
["C3280799","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB",1525,3,"0.6022810193401438"]
["C0023212","Left-Sided Heart Failure",1524,3,"0.9410950331781256","   Cardiovascular Diseases"]
["C0235527","Heart Failure, Right-Sided",1524,3,"0.9671676281065485","   Cardiovascular Diseases"]
["C1959583","Myocardial Failure",1524,3,"0.9684803067912073","   Cardiovascular Diseases"]
["C3810127","IMMUNODEFICIENCY 18",1522,3,"1.0"]
["C3810128","IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",1522,3,"1.0"]
["C3810129","IMMUNODEFICIENCY 18, SCID VARIANT",1522,3,"1.0"]
["C0016063","Osteitis Fibrosa Disseminata",1510,3,"0.4283835395680186","   Musculoskeletal Diseases"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321","   Musculoskeletal Diseases"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321","   Musculoskeletal Diseases"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024867","Perifollicular hyperkeratosis",1509,3,"0.3855165440601735"]
["C4273658","Graham Little Piccardi Lassueur syndrome",1509,3,"0.12256466013168467"]
["C4540331","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5",1509,3,"0.14363459670153464"]
["C0019357","Keratitis, Herpetic",1504,3,"0.8543140063370543","   Eye Diseases"]
["C0024441","Macular Holes",1504,3,"0.8543140063370543","   Eye Diseases"]
["C1853959","Birdshot chorioretinopathy",1504,3,"0.7584042522847354","   Eye Diseases"]
["C0019100","Severe Dengue",1496,3,"0.7285070510157791"]
["C0376300","Dengue Shock Syndrome",1496,3,"0.7320328876670107"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988","   Male Urogenital Diseases"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988","   Female Urogenital Diseases and Pregnancy Complications"]
["C0009447","Common Variable Immunodeficiency",1489,3,"0.8050564431092794","   Immune System Diseases"]
["C2936664","Acquired Hypogammaglobulinemia",1489,3,"0.9098670297563175","   Immune System Diseases"]
["C2936665","Immunoglobulin Deficiency, Late-Onset",1489,3,"0.9018156343602505","   Immune System Diseases"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","   Hemic and Lymphatic Diseases"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","   Immune System Diseases"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","   Pathological Conditions, Signs and Symptoms"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0","   Musculoskeletal Diseases"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0","   Nervous System Diseases"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0","   Eye Diseases"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3809443","MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",1485,3,"1.0"]
["C4310676","MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",1485,3,"1.0"]
["C0008312","Primary biliary cirrhosis",1480,3,"0.720194626981639","   Digestive System Diseases"]
["C0023892","Biliary cirrhosis",1480,3,"0.825384502803407","   Digestive System Diseases"]
["C0238065","Biliary Cirrhosis, Secondary",1480,3,"0.7621702456876895","   Digestive System Diseases"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543","   Infections"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543","   Skin and Connective Tissue Diseases"]
["C0268307","Conjugated hyperbilirubinemia",1479,3,"0.3211554123848656"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677"]
["C0020433","Hyperbilirubinemia",1478,3,"0.3877236539305781","   Pathological Conditions, Signs and Symptoms"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497","   Nutritional and Metabolic Diseases"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883","   Nutritional and Metabolic Diseases"]
["C3554656","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",1467,3,"1.0"]
["C3808802","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",1467,3,"1.0"]
["C4225346","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3",1467,3,"1.0"]
["C0270715","Degenerative Diseases, Central Nervous System",1465,3,"0.8958738790288657","   Nervous System Diseases"]
["C0524851","Neurodegenerative Disorders",1465,3,"0.7706493839617259","   Nervous System Diseases"]
["C0751733","Degenerative Diseases, Spinal Cord",1465,3,"0.8958738790288657","   Nervous System Diseases"]
["C0242383","Age related macular degeneration",1460,3,"0.3508155435707356","   Eye Diseases"]
["C1536085","Geographic Atrophy",1460,3,"0.5365313915217961","   Eye Diseases"]
["C2237660","exudative macular degeneration",1460,3,"0.5431116014489481","   Eye Diseases"]
["C2931245","Bone Marrow failure syndromes",1459,3,"0.8681829340857987","   Hemic and Lymphatic Diseases"]
["C3808553","Bone marrow failure syndrome 1",1459,3,"0.8082675486789305","   Hemic and Lymphatic Diseases"]
["C3810350","Bone marrow failure syndrome 2",1459,3,"0.8140233132956897","   Hemic and Lymphatic Diseases"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967","   Digestive System Diseases"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967","   Hemic and Lymphatic Diseases"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967","   Skin and Connective Tissue Diseases"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967","   Nutritional and Metabolic Diseases"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875","   Nervous System Diseases"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875","   Cardiovascular Diseases"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875","   Nutritional and Metabolic Diseases"]
["C1442837","Myocardial necrosis",1457,3,"0.5199584299255984"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207","   Musculoskeletal Diseases"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207","   Eye Diseases"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207","   Nutritional and Metabolic Diseases"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207","   Pathological Conditions, Signs and Symptoms"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335","   Neoplasms"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335","   Musculoskeletal Diseases"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335","   Skin and Connective Tissue Diseases"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436","   Musculoskeletal Diseases"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436","   Nervous System Diseases"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436","   Cardiovascular Diseases"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436","   Skin and Connective Tissue Diseases"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068","   Neoplasms"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068","   Musculoskeletal Diseases"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068","   Cardiovascular Diseases"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3554518","COWDEN SYNDROME 5",1453,3,"0.9820446258220068"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103","   Nutritional and Metabolic Diseases"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463","   Nutritional and Metabolic Diseases"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613","   Nutritional and Metabolic Diseases"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","   Digestive System Diseases"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","   Skin and Connective Tissue Diseases"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","   Nutritional and Metabolic Diseases"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228","   Digestive System Diseases"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228","   Skin and Connective Tissue Diseases"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228","   Nutritional and Metabolic Diseases"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928","   Digestive System Diseases"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928","   Skin and Connective Tissue Diseases"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928","   Nutritional and Metabolic Diseases"]
["C0031029","Periapical Granuloma",1446,3,"0.49219730693611324","   Stomatognathic Diseases"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399","   Neoplasms"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399","   Musculoskeletal Diseases"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399","   Stomatognathic Diseases"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904","   Stomatognathic Diseases"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621","   Hemic and Lymphatic Diseases"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894","   Hemic and Lymphatic Diseases"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788","   Hemic and Lymphatic Diseases"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0456103","Sepsis of the newborn",1425,3,"1.0","   Infections"]
["C0456103","Sepsis of the newborn",1425,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0456103","Sepsis of the newborn",1425,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3553597","3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",1425,3,"1.0"]
["C4040739","3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",1425,3,"1.0"]
["C0085662","Macrocytosis",1415,3,"0.6898979485566357"]
["C0236970","Alcohol-Induced Disorders",1415,3,"0.816496580927726","   Chemically-Induced Disorders"]
["C0679414","alcohol flush reaction",1415,3,"0.816496580927726"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","   Nervous System Diseases"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","   Eye Diseases"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111","   Nervous System Diseases"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111","   Eye Diseases"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104","   Nervous System Diseases"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104","   Eye Diseases"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815"]
["C4280333","Recurrent sinus disease",1409,3,"0.6221372819029892"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951","   Respiratory Tract Diseases"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951","   Otorhinolaryngologic Diseases"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414","   Respiratory Tract Diseases"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414","   Otorhinolaryngologic Diseases"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414","   Cardiovascular Diseases"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225","   Respiratory Tract Diseases"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225","   Otorhinolaryngologic Diseases"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225","   Cardiovascular Diseases"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981","   Endocrine System Diseases"]
["C0343084","Capillary Leak Syndrome",1407,3,"0.9496117476479664","   Cardiovascular Diseases"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191","   Female Urogenital Diseases and Pregnancy Complications"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191","   Endocrine System Diseases"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0","   Nervous System Diseases"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0","   Cardiovascular Diseases"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0","   Immune System Diseases"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0","   Nervous System Diseases"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0","   Cardiovascular Diseases"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0","   Immune System Diseases"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0","   Nervous System Diseases"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0","   Cardiovascular Diseases"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0","   Immune System Diseases"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347","   Male Urogenital Diseases"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347","   Female Urogenital Diseases and Pregnancy Complications"]
["C0036323","Schistosomiasis",1401,3,"0.4219447499614753"]
["C1850938","FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",1401,3,"0.44476091201218726","   Eye Diseases"]
["C0012716","Disorder of magnesium metabolism",1389,3,"0.9722803115394203"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","   Male Urogenital Diseases"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","   Nutritional and Metabolic Diseases"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118","   Pathological Conditions, Signs and Symptoms"]
["C3151482","HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",1389,3,"0.9722803115394203"]
["C0003507","Aortic Valve Stenosis",1388,3,"0.48225750069486184","   Cardiovascular Diseases"]
["C3542024","AORTIC VALVE DISEASE 2",1388,3,"0.7393921099168455"]
["C4479496","CRANIOSYNOSTOSIS 7",1388,3,"0.7524548660560921"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833","   Cardiovascular Diseases"]
["C0010068","Coronary heart disease",1381,3,"0.20571659217144087","   Cardiovascular Diseases"]
["C1956346","Coronary Artery Disease",1381,3,"0.5274957649514675","   Cardiovascular Diseases"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672"]
["C0585953","Recurrent chest infections",1368,3,"0.998040995440351"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351"]
["C0011847","Diabetes",1364,3,"0.2947049926547248"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","   Nutritional and Metabolic Diseases"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","   Endocrine System Diseases"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","   Nutritional and Metabolic Diseases"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","   Endocrine System Diseases"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008","   Nervous System Diseases"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Musculoskeletal Diseases"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Nervous System Diseases"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Male Urogenital Diseases"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Hemic and Lymphatic Diseases"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Skin and Connective Tissue Diseases"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Pathological Conditions, Signs and Symptoms"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Behavior and Behavior Mechanisms"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593","   Mental Disorders"]
["C4310810","MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",1362,3,"0.25231642807326027"]
["C0268528","Hyperprolinemia",1357,3,"0.7784250447678972"]
["C0268529","Proline dehydrogenase deficiency",1357,3,"0.8890025575602069"]
["C1833247","SCHIZOPHRENIA 4 (disorder)",1357,3,"0.8890025575602069"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","   Nervous System Diseases"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","   Male Urogenital Diseases"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","   Female Urogenital Diseases and Pregnancy Complications"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","   Nutritional and Metabolic Diseases"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092","   Male Urogenital Diseases"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092","   Female Urogenital Diseases and Pregnancy Complications"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","   Nervous System Diseases"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","   Male Urogenital Diseases"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","   Female Urogenital Diseases and Pregnancy Complications"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271","   Nutritional and Metabolic Diseases"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","   Hemic and Lymphatic Diseases"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","   Immune System Diseases"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","   Hemic and Lymphatic Diseases"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","   Immune System Diseases"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678","   Hemic and Lymphatic Diseases"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678","   Immune System Diseases"]
["C0003850","Arteriosclerosis",1322,3,"0.1460645896653591","   Cardiovascular Diseases"]
["C0004153","Atherosclerosis",1322,3,"0.22350184808457763","   Cardiovascular Diseases"]
["C0007222","Cardiovascular Diseases",1322,3,"0.08251658952238015","   Cardiovascular Diseases"]
["C2613439","Extramedullary Hematopoiesis (disorder)",1320,3,"0.06046716607367982"]
["C2931351","Familial myelofibrosis",1320,3,"0.7180248799368277","   Hemic and Lymphatic Diseases"]
["C3809031","NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",1320,3,"0.5987370900416766"]
["C0015695","Fatty Liver",1316,3,"0.5990749101810389","   Digestive System Diseases"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807","   Digestive System Diseases"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807","   Chemically-Induced Disorders"]
["C2711227","Steatohepatitis",1316,3,"0.38953306175171104","   Digestive System Diseases"]
["C3151185","SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY",1312,3,"0.9914935111076358"]
["C3151186","NEPHRONOPHTHISIS 12",1312,3,"0.9830032650755726"]
["C3279203","JOUBERT SYNDROME 11",1312,3,"0.9914935111076358"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0","   Eye Diseases"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0","   Eye Diseases"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0","   Eye Diseases"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0339730","Blindness, Acquired",1301,3,"1.0","   Nervous System Diseases"]
["C0339730","Blindness, Acquired",1301,3,"1.0","   Eye Diseases"]
["C0339730","Blindness, Acquired",1301,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0376288","Amaurosis",1301,3,"1.0","   Nervous System Diseases"]
["C0376288","Amaurosis",1301,3,"1.0","   Eye Diseases"]
["C0376288","Amaurosis",1301,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0750958","Blindness, Monocular",1301,3,"1.0","   Nervous System Diseases"]
["C0750958","Blindness, Monocular",1301,3,"1.0","   Eye Diseases"]
["C0750958","Blindness, Monocular",1301,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089","   Hemic and Lymphatic Diseases"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089","   Immune System Diseases"]
["C3150354","IMMUNODEFICIENCY, COMMON VARIABLE, 2",1298,3,"0.6181049441109089"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189","   Neoplasms"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189","   Skin and Connective Tissue Diseases"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189","   Nutritional and Metabolic Diseases"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207","   Musculoskeletal Diseases"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207","   Nervous System Diseases"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207","   Nutritional and Metabolic Diseases"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Neoplasms"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Musculoskeletal Diseases"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Nervous System Diseases"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Skin and Connective Tissue Diseases"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613","   Nutritional and Metabolic Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Neoplasms"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Musculoskeletal Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Nervous System Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Endocrine System Diseases"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Behavior and Behavior Mechanisms"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0","   Mental Disorders"]
["C3151063","MACULAR DEGENERATION, AGE-RELATED, 5",1289,3,"1.0"]
["C4310783","PREMATURE OVARIAN FAILURE 11",1289,3,"1.0"]
["C0393697","Epilepsy with grand mal seizures on awakening (disorder)",1288,3,"1.0"]
["C1854107","Hyperaldosteronism, Familial, Type II",1288,3,"1.0","   Endocrine System Diseases"]
["C3810242","LEUKOENCEPHALOPATHY WITH ATAXIA",1288,3,"1.0"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0","   Nervous System Diseases"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225327","EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",1287,3,"1.0"]
["C4274995","Lissencephaly with cerebellar hypoplasia",1287,3,"1.0"]
["C0155568","Rheumatic aortic regurgitation",1275,3,"0.8568797603793529"]
["C0263009","Sclerosis of the skin",1275,3,"0.6239397720381178"]
["C0264774","Mitral and aortic incompetence",1275,3,"0.8568797603793529"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721","   Cardiovascular Diseases"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3715165","LEFT VENTRICULAR NONCOMPACTION 10",1271,3,"0.9957930780562956"]
["C3809346","CARDIOMYOPATHY, DILATED, 1MM",1271,3,"0.9957930780562956"]
["C0271902","Microcytic normochromic anemia",1270,3,"0.7826772402854394"]
["C1839832","Noncompaction cardiomyopathy",1270,3,"0.12856312160168254"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","   Nervous System Diseases"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","   Cardiovascular Diseases"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","   Nutritional and Metabolic Diseases"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394","   Pathological Conditions, Signs and Symptoms"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Musculoskeletal Diseases"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Nervous System Diseases"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Pathological Conditions, Signs and Symptoms"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Behavior and Behavior Mechanisms"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171","   Mental Disorders"]
["C3714602","Staphylococcal toxic shock syndrome",1266,3,"0.2689950293512008"]
["C4015141","MENTAL RETARDATION, AUTOSOMAL DOMINANT 29",1266,3,"0.7780821530583171"]
["C2674249","Anemia, Sideroblastic, Autosomal Dominant",1262,3,"1.0"]
["C4225180","EVEN-PLUS SYNDROME",1262,3,"1.0"]
["C4225428","ANEMIA, SIDEROBLASTIC, 4",1262,3,"1.0"]
["C2673914","Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",1260,3,"0.677213894756849","   Hemic and Lymphatic Diseases"]
["C4225155","ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",1260,3,"0.9095043682710268"]
["C4225178","SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",1260,3,"0.9095043682710268"]
["C0030293","Pancreatic Insufficiency",1257,3,"0.002670792483117292"]
["C0267963","Exocrine pancreatic insufficiency",1257,3,"0.5081381914199979","   Digestive System Diseases"]
["C0554119","Pancreatic malabsorption",1257,3,"0.2519420493453454"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017","   Hemic and Lymphatic Diseases"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017","   Nutritional and Metabolic Diseases"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227","   Nutritional and Metabolic Diseases"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978","   Digestive System Diseases"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978","   Nutritional and Metabolic Diseases"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","   Musculoskeletal Diseases"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792","   Musculoskeletal Diseases"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798","   Musculoskeletal Diseases"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0","   Musculoskeletal Diseases"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0","   Skin and Connective Tissue Diseases"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0","   Musculoskeletal Diseases"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0","   Nervous System Diseases"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0","   Musculoskeletal Diseases"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0","   Nervous System Diseases"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1969106","Osteopetrosis, Autosomal Recessive 4",1244,3,"0.5252547295447586","   Musculoskeletal Diseases"]
["C3179239","Osteopetrosis Autosomal Dominant Type 2",1244,3,"0.7759970358718379","   Musculoskeletal Diseases"]
["C3645711","Congenital Osteopetrosis",1244,3,"0.187607563636263","   Musculoskeletal Diseases"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","   Eye Diseases"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","   Male Urogenital Diseases"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","   Female Urogenital Diseases and Pregnancy Complications"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","   Nervous System Diseases"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","   Eye Diseases"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","   Cardiovascular Diseases"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","   Pathological Conditions, Signs and Symptoms"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","   Behavior and Behavior Mechanisms"]
["C4274118","Joubert syndrome with ocular defect",1238,3,"-0.04647399350109089"]
["C1851479","Keratoderma palmoplantaris transgrediens",1236,3,"1.0"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0","   Otorhinolaryngologic Diseases"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0","   Nervous System Diseases"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4509933","Peripheral neuropathy with sensorineural hearing impairment syndrome",1236,3,"1.0"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687","   Nervous System Diseases"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Respiratory Tract Diseases"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Otorhinolaryngologic Diseases"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Nervous System Diseases"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Male Urogenital Diseases"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Female Urogenital Diseases and Pregnancy Complications"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444","   Pathological Conditions, Signs and Symptoms"]
["C4310705","JOUBERT SYNDROME 28",1228,3,"0.9820205015404687"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Nervous System Diseases"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Eye Diseases"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Male Urogenital Diseases"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Female Urogenital Diseases and Pregnancy Complications"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Pathological Conditions, Signs and Symptoms"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Behavior and Behavior Mechanisms"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248","   Mental Disorders"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","   Nervous System Diseases"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","   Male Urogenital Diseases"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","   Female Urogenital Diseases and Pregnancy Complications"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248","   Pathological Conditions, Signs and Symptoms"]
["C3280898","JOUBERT SYNDROME 9/15, DIGENIC",1227,3,"0.9452684881936295"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Respiratory Tract Diseases"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Otorhinolaryngologic Diseases"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Nervous System Diseases"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Male Urogenital Diseases"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0","   Nervous System Diseases"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0","   Eye Diseases"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0","   Male Urogenital Diseases"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C3150796","NEPHRONOPHTHISIS 11",1223,3,"1.0"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203","   Respiratory Tract Diseases"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203","   Nutritional and Metabolic Diseases"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587","   Male Urogenital Diseases"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587","   Endocrine System Diseases"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587","   Pathological Conditions, Signs and Symptoms"]
["C3263719","Primary acquired melanosis",1217,3,"0.7860073215602715"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237","   Nutritional and Metabolic Diseases"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602","   Nutritional and Metabolic Diseases"]
["C4304578","1p21.3 microdeletion syndrome",1204,3,"0.9948528701877237"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0","   Nervous System Diseases"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0","   Nervous System Diseases"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0","   Nervous System Diseases"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","   Digestive System Diseases"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","   Otorhinolaryngologic Diseases"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153","   Digestive System Diseases"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153","   Otorhinolaryngologic Diseases"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231","   Nervous System Diseases"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677","   Endocrine System Diseases"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096","   Female Urogenital Diseases and Pregnancy Complications"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096","   Endocrine System Diseases"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413","   Nervous System Diseases"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413","   Female Urogenital Diseases and Pregnancy Complications"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413","   Endocrine System Diseases"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144","   Stomatognathic Diseases"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144","   Otorhinolaryngologic Diseases"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144","   Nervous System Diseases"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144","   Pathological Conditions, Signs and Symptoms"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697","   Nutritional and Metabolic Diseases"]
["C1865804","Peroxisome Biogenesis Disorder, Complementation Group E",1185,3,"0.8349919383499697"]
["C3151055","ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",1182,3,"0.9993123421193053"]
["C3502131","Adrenal Insufficiency, Congenital",1182,3,"0.9996563911001033","   Endocrine System Diseases"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033","   Male Urogenital Diseases"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033","   Female Urogenital Diseases and Pregnancy Complications"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033","   Endocrine System Diseases"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","   Male Urogenital Diseases"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","   Female Urogenital Diseases and Pregnancy Complications"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","   Endocrine System Diseases"]
["C0432475","XX males",1177,3,"0.2239661574993518"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687","   Male Urogenital Diseases"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687","   Female Urogenital Diseases and Pregnancy Complications"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687","   Endocrine System Diseases"]
["C2931347","Cardiac form of generalized glycogenosis",1172,3,"1.0"]
["C3888924","Glycogen storage disease due to acid maltase deficiency, infantile onset",1172,3,"1.0"]
["C3888925","Pompe\\'s disease adult onset",1172,3,"1.0"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416","   Nervous System Diseases"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416","   Nutritional and Metabolic Diseases"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264","   Nervous System Diseases"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264","   Nutritional and Metabolic Diseases"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208","   Nervous System Diseases"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208","   Nutritional and Metabolic Diseases"]
["C1832243","CARDIOMYOPATHY, DILATED, 1D (disorder)",1169,3,"1.0","   Cardiovascular Diseases"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0","   Cardiovascular Diseases"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676271","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)",1169,3,"1.0","   Cardiovascular Diseases"]
["C0032027","Pityriasis Rubra Pilaris",1168,3,"0.9995933153685531","   Skin and Connective Tissue Diseases"]
["C1304140","Familial psoriasis",1168,3,"0.9997966453559083"]
["C1864497","PSORIASIS 2",1168,3,"0.9997966453559083"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","   Male Urogenital Diseases"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","   Female Urogenital Diseases and Pregnancy Complications"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","   Nutritional and Metabolic Diseases"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","   Male Urogenital Diseases"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574","   Nutritional and Metabolic Diseases"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973","   Nutritional and Metabolic Diseases"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167","   Nutritional and Metabolic Diseases"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939","   Nutritional and Metabolic Diseases"]
["C0271528","Isosexual precocious puberty",1157,3,"1.0"]
["C3553841","HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA",1157,3,"1.0"]
["C3805879","PRECOCIOUS PUBERTY, CENTRAL, 1",1157,3,"1.0"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614","   Respiratory Tract Diseases"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614","   Nervous System Diseases"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","   Respiratory Tract Diseases"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","   Nervous System Diseases"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614","   Respiratory Tract Diseases"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614","   Nervous System Diseases"]
["C2749861","MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)",1148,3,"1.0"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0","   Musculoskeletal Diseases"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0","   Nervous System Diseases"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0","   Eye Diseases"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0","   Nutritional and Metabolic Diseases"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3150172","MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)",1148,3,"1.0"]
["C2749862","Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",1147,3,"0.513921222372273"]
["C3501849","Mngie Without Leukoencephalopathy",1147,3,"0.8595560550091821"]
["C3711125","Mitochondrial DNA Depletion Syndrome 8A",1147,3,"0.8595560550091821"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968","   Musculoskeletal Diseases"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968","   Digestive System Diseases"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968","   Nervous System Diseases"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968","   Nutritional and Metabolic Diseases"]
["C4476617","Autonomic visceral myopathy",1146,3,"0.9424078499136811"]
["C4476618","Degenerative enteric myopathy",1146,3,"0.9424078499136811"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871","   Musculoskeletal Diseases"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871","   Nervous System Diseases"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871","   Eye Diseases"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871","   Nutritional and Metabolic Diseases"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871","   Pathological Conditions, Signs and Symptoms"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629","   Nervous System Diseases"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4015307","PERRAULT SYNDROME 5",1145,3,"0.9991926175330871"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869","   Nervous System Diseases"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869","   Pathological Conditions, Signs and Symptoms"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502","   Nervous System Diseases"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502","   Eye Diseases"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502","   Nutritional and Metabolic Diseases"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502","   Pathological Conditions, Signs and Symptoms"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499","   Nervous System Diseases"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499","   Eye Diseases"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499","   Pathological Conditions, Signs and Symptoms"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176","   Cardiovascular Diseases"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176","   Hemic and Lymphatic Diseases"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151221","TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3",1135,3,"0.5597699900588633"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148","   Cardiovascular Diseases"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148","   Hemic and Lymphatic Diseases"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876171","Polyasplenia",1134,3,"1.0","   Cardiovascular Diseases"]
["C1876171","Polyasplenia",1134,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1876171","Polyasplenia",1134,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876172","VAH, AUTOSOMAL RECESSIVE",1134,3,"1.0"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0","   Cardiovascular Diseases"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989"]
["C2981142","Refractory anemia, without ringed sideroblasts, without excess blasts",1132,3,"-0.19870393161390473"]
["C4015323","LEUKODYSTROPHY, HYPOMYELINATING, 9",1132,3,"0.4915720836967764"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","   Hemic and Lymphatic Diseases"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","   Immune System Diseases"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","   Hemic and Lymphatic Diseases"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","   Immune System Diseases"]
["C3279824","Kappa-Chain Deficiency",1130,3,"0.6549700904767264","   Immune System Diseases"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755","   Eye Diseases"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315","   Eye Diseases"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495489","Rieger eye malformation sequence",1127,3,"0.8584904938658368"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324","   Stomatognathic Diseases"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324","   Eye Diseases"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324","   Neoplasms"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324","   Eye Diseases"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178","   Eye Diseases"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408","   Eye Diseases"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408","   Skin and Connective Tissue Diseases"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408","   Nutritional and Metabolic Diseases"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408","   Eye Diseases"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4073107","Incomplete congenital stationary night blindness",1123,3,"0.9261056152559028"]
["C2677713","Ichthyosis, X-Linked, Complicated",1117,3,"0.9556819931915008"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345","   Skin and Connective Tissue Diseases"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345","   Nutritional and Metabolic Diseases"]
["C4274085","Syndromic recessive X-linked ichthyosis",1117,3,"0.9556819931915008"]
["C1852759","Papillorenal syndrome",1115,3,"1.0","   Eye Diseases"]
["C1852759","Papillorenal syndrome",1115,3,"1.0","   Male Urogenital Diseases"]
["C1852759","Papillorenal syndrome",1115,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1852759","Papillorenal syndrome",1115,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0","   Eye Diseases"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0","   Male Urogenital Diseases"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4014925","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7",1115,3,"1.0"]
["C3553989","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",1112,3,"0.2772555109619926"]
["C4015635","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",1112,3,"0.5676995580102657"]
["C4310763","SPINOCEREBELLAR ATAXIA 43",1112,3,"0.10241334539682348"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0","   Musculoskeletal Diseases"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0","   Endocrine System Diseases"]
["C4225183","BRACHYDACTYLY, TYPE A1, D",1111,3,"1.0"]
["C4225404","ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",1111,3,"1.0"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428","   Musculoskeletal Diseases"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1300268","Brachydactyly syndrome type C",1110,3,"0.8229665189170458"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189","   Musculoskeletal Diseases"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0","   Musculoskeletal Diseases"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3554446","BRACHYDACTYLY, TYPE A1, C",1109,3,"1.0"]
["C3809104","SYMPHALANGISM, PROXIMAL, 1B",1109,3,"1.0"]
["C0175700","Multiple synostosis syndrome",1107,3,"0.7230158543322864"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652","   Musculoskeletal Diseases"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861385","SYMPHALANGISM, PROXIMAL",1107,3,"0.28870098984799647","   Musculoskeletal Diseases"]
["C0263746","Osteoarthritis of the hand",1105,3,"0.2822629998150747"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266","   Musculoskeletal Diseases"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266","   Musculoskeletal Diseases"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0002873","Anemia of chronic disease",1103,3,"0.631678303791508"]
["C0034902","Pure Red-Cell Aplasia",1103,3,"0.8017850725574002","   Hemic and Lymphatic Diseases"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998","   Nutritional and Metabolic Diseases"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135","   Cardiovascular Diseases"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135","   Pathological Conditions, Signs and Symptoms"]
["C0151449","Primary SjÃ¶gren\\'s syndrome",1102,3,"0.04651040590251926"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193","   Skin and Connective Tissue Diseases"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193","   Immune System Diseases"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784","   Nervous System Diseases"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784","   Nutritional and Metabolic Diseases"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368","   Nervous System Diseases"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368","   Nutritional and Metabolic Diseases"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368","   Nervous System Diseases"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368","   Nutritional and Metabolic Diseases"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581","   Nervous System Diseases"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581","   Immune System Diseases"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857","   Nervous System Diseases"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857","   Immune System Diseases"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424","   Nervous System Diseases"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424","   Immune System Diseases"]
["C1843808","CARDIOMYOPATHY, DILATED, 1M",1090,3,"1.0","   Cardiovascular Diseases"]
["C2677491","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",1090,3,"1.0"]
["C4025009","Impaired myocardial contractility",1090,3,"1.0"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776","   Musculoskeletal Diseases"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776","   Nervous System Diseases"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226","   Musculoskeletal Diseases"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226","   Nervous System Diseases"]
["C2932678","Inherited Peripheral Neuropathy",1084,3,"0.8785976404641749","   Nervous System Diseases"]
["C1853995","SEIZURES, BENIGN FAMILIAL INFANTILE, 2",1081,3,"0.900833527316034","   Nervous System Diseases"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548","   Nervous System Diseases"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548","   Pathological Conditions, Signs and Symptoms"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536","   Nervous System Diseases"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536","   Pathological Conditions, Signs and Symptoms"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Musculoskeletal Diseases"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Otorhinolaryngologic Diseases"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Nervous System Diseases"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Eye Diseases"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048","   Pathological Conditions, Signs and Symptoms"]
["C1868681","DYSTONIA 12",1080,3,"0.8881787002829464","   Nervous System Diseases"]
["C3553788","ALTERNATING HEMIPLEGIA OF CHILDHOOD 2",1080,3,"0.8891807681023269"]
["C1865322","MIGRAINE, FAMILIAL HEMIPLEGIC, 2",1077,3,"0.9986309928846427","   Nervous System Diseases"]
["C1865323","Migraine, Familial Basilar",1077,3,"0.9993483083046233","   Nervous System Diseases"]
["C3549447","ALTERNATING HEMIPLEGIA OF CHILDHOOD 1",1077,3,"0.9993483083046233"]
["C0270860","Basilar-Type Migraine",1076,3,"0.25261010316084404","   Nervous System Diseases"]
["C0270862","Hemiplegic migraine",1076,3,"0.5529862300163528"]
["C0338484","Familial Hemiplegic Migraine",1076,3,"0.2339266551635054","   Nervous System Diseases"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345","   Musculoskeletal Diseases"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345","   Nervous System Diseases"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022","   Cardiovascular Diseases"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022","   Pathological Conditions, Signs and Symptoms"]
["C3280443","MYOPATHY, DISTAL, TATEYAMA TYPE",1075,3,"0.4566869391734209"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333","   Nutritional and Metabolic Diseases"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333","   Endocrine System Diseases"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836","   Female Urogenital Diseases and Pregnancy Complications"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836","   Nutritional and Metabolic Diseases"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836","   Endocrine System Diseases"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836","   Pathological Conditions, Signs and Symptoms"]
["C1850096","Pancreatic Agenesis, Congenital",1069,3,"0.6717798979190753","   Digestive System Diseases"]
["C0023213","Ventricular Outflow Obstruction, Left",1064,3,"1.0","   Cardiovascular Diseases"]
["C0042512","Ventricular Outflow Obstruction",1064,3,"1.0","   Cardiovascular Diseases"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0","   Nervous System Diseases"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0","   Chemically-Induced Disorders"]
["C0271714","Hypoglycemia, leucine-induced",1062,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0","   Endocrine System Diseases"]
["C4274080","Autosomal dominant hyperinsulinism due to SUR1 deficiency",1062,3,"1.0"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388","   Nervous System Diseases"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388","   Nutritional and Metabolic Diseases"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388","   Endocrine System Diseases"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388","   Pathological Conditions, Signs and Symptoms"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399","   Nutritional and Metabolic Diseases"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399","   Endocrine System Diseases"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Nervous System Diseases"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Nutritional and Metabolic Diseases"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Endocrine System Diseases"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Pathological Conditions, Signs and Symptoms"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499","   Behavior and Behavior Mechanisms"]
["C0085569","Metabolic acidosis, NAG, acidifying salts",1054,3,"0.8628476839644287"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","   Male Urogenital Diseases"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","   Nutritional and Metabolic Diseases"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Nervous System Diseases"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Eye Diseases"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Male Urogenital Diseases"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Female Urogenital Diseases and Pregnancy Complications"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Nutritional and Metabolic Diseases"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Pathological Conditions, Signs and Symptoms"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Behavior and Behavior Mechanisms"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221","   Mental Disorders"]
["C0002891","Anemia, Neonatal",1052,3,"1.0","   Hemic and Lymphatic Diseases"]
["C0002891","Anemia, Neonatal",1052,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0","   Hemic and Lymphatic Diseases"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674219","SPHEROCYTOSIS, HEREDITARY, 2",1052,3,"1.0"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341","   Musculoskeletal Diseases"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341","   Nervous System Diseases"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341","   Nutritional and Metabolic Diseases"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341","   Endocrine System Diseases"]
["C3151898","MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",1047,3,"0.5786318294775631"]
["C3278664","LIVER FAILURE, INFANTILE, TRANSIENT",1047,3,"-0.12010217163380388"]
["C0270855","Early myoclonic encephalopathy",1041,3,"0.4467736328480076","   Nervous System Diseases"]
["C0752324","Focal Tonic Seizures",1041,3,"0.7361462163959118","   Nervous System Diseases"]
["C4225360","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30",1041,3,"0.4283541506374561"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0","   Musculoskeletal Diseases"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0","   Cardiovascular Diseases"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0","   Skin and Connective Tissue Diseases"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0","   Musculoskeletal Diseases"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0","   Cardiovascular Diseases"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0","   Skin and Connective Tissue Diseases"]
["C4014656","CARDIOMYOPATHY, DILATED, 1NN",1033,3,"1.0"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933","   Nervous System Diseases"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975","   Endocrine System Diseases"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975","   Pathological Conditions, Signs and Symptoms"]
["C0002884","Hypochromic anemia",1030,3,"0.49288060004750484","   Hemic and Lymphatic Diseases"]
["C2673913","Anemia, Hypochromic Microcytic, With Iron Overload",1030,3,"0.6277283849723938","   Hemic and Lymphatic Diseases"]
["C3806153","ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",1030,3,"0.6686264157314609"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132","   Male Urogenital Diseases"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409","   Male Urogenital Diseases"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986","   Male Urogenital Diseases"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","   Musculoskeletal Diseases"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","   Nervous System Diseases"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0302486","Erythrophagocytosis",1019,3,"0.4640616262681068"]
["C1864648","CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",1019,3,"0.6594294626506643"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Musculoskeletal Diseases"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Nervous System Diseases"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Female Urogenital Diseases and Pregnancy Complications"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Skin and Connective Tissue Diseases"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126","   Pathological Conditions, Signs and Symptoms"]
["C0580190","3-Phosphoglycerate dehydrogenase deficiency",1008,3,"0.886596251260698"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Musculoskeletal Diseases"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Nervous System Diseases"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Nutritional and Metabolic Diseases"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Pathological Conditions, Signs and Symptoms"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698","   Behavior and Behavior Mechanisms"]
["C0432253","Bruck syndrome",1006,3,"0.7474477853062812"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272","   Musculoskeletal Diseases"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272","   Skin and Connective Tissue Diseases"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523","   Musculoskeletal Diseases"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523","   Skin and Connective Tissue Diseases"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0"]
["C0745186","hypoventilation syndrome",999,3,"1.0"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0","   Neoplasms"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0","   Digestive System Diseases"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","   Otorhinolaryngologic Diseases"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","   Nervous System Diseases"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","   Endocrine System Diseases"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","   Pathological Conditions, Signs and Symptoms"]
["C0342162","Compensated hypothyroidism",993,3,"0.51635057976103"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545","   Otorhinolaryngologic Diseases"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545","   Nervous System Diseases"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545","   Pathological Conditions, Signs and Symptoms"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","   Nervous System Diseases"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","   Cardiovascular Diseases"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","   Immune System Diseases"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821","   Nutritional and Metabolic Diseases"]
["C1744558","T-lymphocyte deficiency",990,3,"0.7941676321980821"]
["C3150700","MENTAL RETARDATION, AUTOSOMAL DOMINANT 20",985,3,"0.7274649641150404"]
["C4225434","CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",985,3,"0.5370699789047225"]
["C4304529","5q14.3 microdeletion syndrome",985,3,"0.6635328148757683"]
["C2676727","Chromosome 1q43-Q44 Deletion Syndrome",984,3,"0.8780870026494487"]
["C3808184","MENTAL RETARDATION, AUTOSOMAL DOMINANT 22",984,3,"0.8161607633831922"]
["C4273897","Distal monosomy 1q",984,3,"0.8426823480739919"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832","   Pathological Conditions, Signs and Symptoms"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894","   Pathological Conditions, Signs and Symptoms"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894","   Pathological Conditions, Signs and Symptoms"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333","   Nutritional and Metabolic Diseases"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165","   Nutritional and Metabolic Diseases"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165","   Pathological Conditions, Signs and Symptoms"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026","   Nutritional and Metabolic Diseases"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562","   Nutritional and Metabolic Diseases"]
["C1261969","Type I hyperlipidaemia",978,3,"0.939650428157356"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356","   Nutritional and Metabolic Diseases"]
["C1274228","Chylomicronemia syndrome",977,3,"0.1772955585516702"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897","   Nutritional and Metabolic Diseases"]
["C4014767","HYPERLIPOPROTEINEMIA, TYPE ID",977,3,"-0.11687904109184909"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475","   Nutritional and Metabolic Diseases"]
["C0029438","Massive Osteolyses",975,3,"0.9413069601199054","   Musculoskeletal Diseases"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588","   Nutritional and Metabolic Diseases"]
["C0002735","Oppenheim\\'s Disease",972,3,"0.6460526699610827","   Nervous System Diseases"]
["C0027868","Neuromuscular Diseases",972,3,"0.5249161850635937","   Nervous System Diseases"]
["C0751381","Foley-Denny-Brown Syndrome",972,3,"0.6460526699610827","   Nervous System Diseases"]
["C0017536","Giardiasis",971,3,"0.7029823815844127","   Digestive System Diseases"]
["C0398562","Triose phosphate isomerase deficiency",971,3,"0.8154253186796703"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703","   Hemic and Lymphatic Diseases"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703","   Nutritional and Metabolic Diseases"]
["C3809006","CARDIOFACIOCUTANEOUS SYNDROME 3",968,3,"-0.044681902698250266"]
["C4073145","Hyperkeratosis pilaris",968,3,"0.6092016001181005"]
["C4225282","NOONAN SYNDROME 9",968,3,"0.3194107486488001"]
["C1842675","AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)",959,3,"0.6233561816196592"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964","   Nervous System Diseases"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964","   Nutritional and Metabolic Diseases"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964","   Mental Disorders"]
["C3539195","TREMOR, HEREDITARY ESSENTIAL, 4",959,3,"0.8203467912697964"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956","   Nervous System Diseases"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1997740","Segmental dystonia",950,3,"0.43799549855031084"]
["C2875058","Familial torsion dystonia",950,3,"0.5394380145597845"]
["C0154676","Organic writer\\'s cramp",948,3,"0.14318091640411917"]
["C1834570","Myoclonic dystonia",948,3,"0.5935597966934463","   Nervous System Diseases"]
["C3697670","Spinal cord myoclonus",948,3,"0.5457101255958811"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906","   Nervous System Diseases"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906","   Eye Diseases"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906","   Pathological Conditions, Signs and Symptoms"]
["C4540439","RETINITIS PIGMENTOSA 80",937,3,"0.9560038819681063"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627","   Hemic and Lymphatic Diseases"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706","   Hemic and Lymphatic Diseases"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435","   Hemic and Lymphatic Diseases"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865643","Cholestasis, progressive familial intrahepatic 3",929,3,"0.9995862957698269","   Digestive System Diseases"]
["C2609268","Low phospholipid-associated cholelithiasis",929,3,"0.9991717793595999"]
["C3554241","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",929,3,"0.9995862957698269"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989","   Nutritional and Metabolic Diseases"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519","   Nutritional and Metabolic Diseases"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519","   Nutritional and Metabolic Diseases"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938","   Infections"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938","   Skin and Connective Tissue Diseases"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518","   Skin and Connective Tissue Diseases"]
["C0409974","Lupus Erythematosus",921,3,"0.8960764006613194"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","   Nervous System Diseases"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","   Mental Disorders"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344","   Nervous System Diseases"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344","   Mental Disorders"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387","   Nervous System Diseases"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387","   Mental Disorders"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967","   Neoplasms"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967","   Digestive System Diseases"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967","   Pathological Conditions, Signs and Symptoms"]
["C4310613","POLYCYSTIC LIVER DISEASE 1",916,3,"0.28097223288324835"]
["C4310769","POLYCYSTIC LIVER DISEASE 2",916,3,"0.3010032353390605"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","   Male Urogenital Diseases"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","   Female Urogenital Diseases and Pregnancy Complications"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121","   Neoplasms"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121","   Digestive System Diseases"]
["C0267834","Liver cyst",915,3,"0.3012900130798916"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0","   Nervous System Diseases"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847903","Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",914,3,"1.0"]
["C3809272","LETHAL CONGENITAL CONTRACTURE SYNDROME 5",914,3,"1.0"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0","   Cardiovascular Diseases"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678476","Cardiomyopathy, Dilated, 1y",907,3,"1.0","   Cardiovascular Diseases"]
["C3808145","LEFT VENTRICULAR NONCOMPACTION 9",907,3,"1.0"]
["C1836448","Nemaline myopathy 1",906,3,"1.0","   Musculoskeletal Diseases"]
["C1836448","Nemaline myopathy 1",906,3,"1.0","   Nervous System Diseases"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0","   Musculoskeletal Diseases"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0","   Nervous System Diseases"]
["C3714994","CAP MYOPATHY 1",906,3,"1.0"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006","   Musculoskeletal Diseases"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006","   Nervous System Diseases"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578","   Musculoskeletal Diseases"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578","   Nervous System Diseases"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309","   Musculoskeletal Diseases"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309","   Nervous System Diseases"]
["C1836447","Nemaline myopathy 4",904,3,"1.0","   Musculoskeletal Diseases"]
["C1836447","Nemaline myopathy 4",904,3,"1.0","   Nervous System Diseases"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0","   Musculoskeletal Diseases"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0","   Nervous System Diseases"]
["C3807907","CAP MYOPATHY 2",904,3,"1.0"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354","   Neoplasms"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354","   Musculoskeletal Diseases"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354","   Pathological Conditions, Signs and Symptoms"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973","   Nervous System Diseases"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973","   Pathological Conditions, Signs and Symptoms"]
["C3150703","FRONTONASAL DYSPLASIA 2",899,3,"0.7487890370512973"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284","   Skin and Connective Tissue Diseases"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385","   Skin and Connective Tissue Diseases"]
["C3810041","ALZHEIMER DISEASE 18",897,3,"0.5402396229866435"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0","   Skin and Connective Tissue Diseases"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0"]
["C4024872","Progressive reticulate hyperpigmentation",896,3,"1.0"]
["C0343111","Naegeli syndrome",895,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0343111","Naegeli syndrome",895,3,"1.0","   Skin and Connective Tissue Diseases"]
["C3715082","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",895,3,"1.0"]
["C4021831","Hypohidrosis or hyperhidrosis",895,3,"1.0"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934","   Nutritional and Metabolic Diseases"]
["C2936861","Cortisol 11-beta-ketoreductase deficiency",893,3,"0.9460125033708048"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711","   Nutritional and Metabolic Diseases"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177","   Nutritional and Metabolic Diseases"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002","   Nutritional and Metabolic Diseases"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002","   Nervous System Diseases"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002","   Endocrine System Diseases"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885","   Nervous System Diseases"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885","   Nutritional and Metabolic Diseases"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191","   Nervous System Diseases"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191","   Nutritional and Metabolic Diseases"]
["C1855038","Hepatocellular necrosis",881,3,"0.7549663395038722"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","   Digestive System Diseases"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","   Cardiovascular Diseases"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","   Skin and Connective Tissue Diseases"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","   Nutritional and Metabolic Diseases"]
["C0748540","Scleroderma, Limited",878,3,"0.8699461372542555","   Skin and Connective Tissue Diseases"]
["C1258104","Diffuse Scleroderma",878,3,"0.7959991160811233","   Skin and Connective Tissue Diseases"]
["C0406556","Hereditary acrokeratotic poikiloderma of Weary",875,3,"0.9998800359880042"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676","   Stomatognathic Diseases"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676","   Skin and Connective Tissue Diseases"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676","   Pathological Conditions, Signs and Symptoms"]
["C4024863","Diffuse skin atrophy",875,3,"0.9998800359880042"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231","   Nervous System Diseases"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952","   Nervous System Diseases"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678048","Spinocerebellar Ataxia, X-Linked 5",873,3,"0.12215868177455817"]
["C1852577","FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)",865,3,"0.7686061981518031"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031","   Nervous System Diseases"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031","   Pathological Conditions, Signs and Symptoms"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","   Otorhinolaryngologic Diseases"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","   Nervous System Diseases"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","   Eye Diseases"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736","   Pathological Conditions, Signs and Symptoms"]
["C0339534","Usher syndrome type 2",864,3,"0.38304931576176277"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","   Otorhinolaryngologic Diseases"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","   Nervous System Diseases"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","   Eye Diseases"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457","   Pathological Conditions, Signs and Symptoms"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018","   Otorhinolaryngologic Diseases"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018","   Nervous System Diseases"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018","   Pathological Conditions, Signs and Symptoms"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","   Otorhinolaryngologic Diseases"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","   Nervous System Diseases"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","   Eye Diseases"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0","   Otorhinolaryngologic Diseases"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0","   Nervous System Diseases"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0","   Otorhinolaryngologic Diseases"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0","   Nervous System Diseases"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0","   Eye Diseases"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","   Otorhinolaryngologic Diseases"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","   Nervous System Diseases"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","   Eye Diseases"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602","   Pathological Conditions, Signs and Symptoms"]
["C1848639","USHER SYNDROME, TYPE IA, FORMERLY",861,3,"0.9812096156815548"]
["C1848640","USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY",861,3,"0.9812096156815548"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0","   Otorhinolaryngologic Diseases"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0","   Nervous System Diseases"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","   Otorhinolaryngologic Diseases"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","   Nervous System Diseases"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","   Eye Diseases"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0","   Otorhinolaryngologic Diseases"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0","   Nervous System Diseases"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0","   Eye Diseases"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0270736","Essential Tremor",852,3,"0.5464091227042035","   Nervous System Diseases"]
["C0393615","Familial Tremor",852,3,"0.6111263431041652","   Nervous System Diseases"]
["C3810400","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19",852,3,"0.08425671391134876"]
["C1836522","Schindler Disease, Type II",851,3,"1.0","   Nervous System Diseases"]
["C1836522","Schindler Disease, Type II",851,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836522","Schindler Disease, Type II",851,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1836544","Schindler Disease, Type I",851,3,"1.0","   Nervous System Diseases"]
["C1836544","Schindler Disease, Type I",851,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836544","Schindler Disease, Type I",851,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1836545","Schindler Disease, Type III",851,3,"1.0","   Nervous System Diseases"]
["C1836545","Schindler Disease, Type III",851,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836545","Schindler Disease, Type III",851,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0019099","Hemorrhagic Fever, Crimean",845,3,"0.8495692779949102"]
["C2062416","Sindbis virus infection",845,3,"0.46344353527434035"]
["C4015293","IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION",845,3,"0.8495692779949102"]
["C0032461","Polycythemia",844,3,"0.3964866500659292","   Hemic and Lymphatic Diseases"]
["C0152264","Familial erythrocytosis",844,3,"0.16401170177288724","   Hemic and Lymphatic Diseases"]
["C1868945","Polyglobulia",844,3,"-0.04673501290061726"]
["C0268405","Hemodialysis-associated amyloidosis",843,3,"0.9995847969407822"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562","   Nutritional and Metabolic Diseases"]
["C4302669","Autosomal dominant beta2-microglobulinic amyloidosis",843,3,"0.9995847969407822"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796","   Nervous System Diseases"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796","   Nutritional and Metabolic Diseases"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143","   Nervous System Diseases"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143","   Nutritional and Metabolic Diseases"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288","   Nervous System Diseases"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288","   Nutritional and Metabolic Diseases"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","   Skin and Connective Tissue Diseases"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","   Nutritional and Metabolic Diseases"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","   Immune System Diseases"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724","   Pathological Conditions, Signs and Symptoms"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Musculoskeletal Diseases"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Nervous System Diseases"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Immune System Diseases"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Pathological Conditions, Signs and Symptoms"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323","   Mental Disorders"]
["C1861827","Cataract, Nuclear Diffuse Nonprogressive",835,3,"1.0","   Eye Diseases"]
["C3805411","CATARACT 30",835,3,"1.0"]
["C4024821","Diffuse nuclear cataract",835,3,"1.0"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807","   Cardiovascular Diseases"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807","   Nutritional and Metabolic Diseases"]
["C1533847","Disorder of skeletal muscle",833,3,"0.2552427363235237"]
["C1844917","Intermittent lactic acidemia",833,3,"0.7452101373728698"]
["C0036310","Scheuermann\\'s Disease",829,3,"0.4999999999999999","   Musculoskeletal Diseases"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982","   Musculoskeletal Diseases"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982","   Nervous System Diseases"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553660","SOTOS SYNDROME 2",829,3,"0.8200569756647982"]
["C0339651","Horizontal gaze palsy",827,3,"0.9666845092685129"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558","   Musculoskeletal Diseases"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558","   Nervous System Diseases"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558","   Eye Diseases"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558","   Nutritional and Metabolic Diseases"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558","   Pathological Conditions, Signs and Symptoms"]
["C2062713","Progressive ophthalmoplegia",827,3,"0.9666845092685129"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","   Musculoskeletal Diseases"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","   Nervous System Diseases"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","   Cardiovascular Diseases"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568","   Nutritional and Metabolic Diseases"]
["C1838114","Generalized limb muscle atrophy",823,3,"0.38499870284385157"]
["C3150802","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",823,3,"0.7245721207629258"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369","   Nervous System Diseases"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369","   Nutritional and Metabolic Diseases"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006","   Musculoskeletal Diseases"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006","   Nervous System Diseases"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006","   Pathological Conditions, Signs and Symptoms"]
["C0221207","Urticaria due to cold",814,3,"1.0"]
["C3280914","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3",814,3,"1.0"]
["C3553961","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",814,3,"1.0"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499","   Nervous System Diseases"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484","   Nervous System Diseases"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688","   Digestive System Diseases"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688","   Nutritional and Metabolic Diseases"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033","   Cardiovascular Diseases"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033","   Pathological Conditions, Signs and Symptoms"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175","   Cardiovascular Diseases"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175","   Pathological Conditions, Signs and Symptoms"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033","   Cardiovascular Diseases"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033","   Pathological Conditions, Signs and Symptoms"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","   Eye Diseases"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","   Eye Diseases"]
["C2930821","Keratitis sicca",798,3,"0.997567866970376"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177","   Nervous System Diseases"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177","   Eye Diseases"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177","   Pathological Conditions, Signs and Symptoms"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695","   Nervous System Diseases"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695","   Eye Diseases"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695","   Pathological Conditions, Signs and Symptoms"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138","   Eye Diseases"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984","   Eye Diseases"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557","   Eye Diseases"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078","   Eye Diseases"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183","   Nervous System Diseases"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183","   Eye Diseases"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699","   Eye Diseases"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699","   Nervous System Diseases"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699","   Eye Diseases"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1272174","Scotopic sensitivity",791,3,"1.0"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0","   Eye Diseases"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0","   Eye Diseases"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043167","Pertussis",785,3,"0.6912462089672032","   Infections"]
["C0043167","Pertussis",785,3,"0.6912462089672032","   Respiratory Tract Diseases"]
["C0043168","Whooping cough due to unspecified organism",785,3,"0.28291312439684885"]
["C4015695","LONG QT SYNDROME 15",785,3,"0.547801524240991"]
["C2750466","Cardiomyopathy, Dilated, 1EE",783,3,"1.0","   Cardiovascular Diseases"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0","   Cardiovascular Diseases"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0","   Cardiovascular Diseases"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085612","Ventricular arrhythmia",782,3,"0.23372798040210413"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972","   Cardiovascular Diseases"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2063326","Right ventricular cardiomyopathy",782,3,"0.530577282276811"]
["C0694539","Chronic atrial fibrillation",776,3,"0.3908464338762619"]
["C3279693","ATRIAL FIBRILLATION, FAMILIAL, 11",776,3,"0.5675442384934412"]
["C4021885","Atrial cardiomyopathy",776,3,"0.5675442384934412"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","   Musculoskeletal Diseases"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","   Nervous System Diseases"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","   Nutritional and Metabolic Diseases"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","   Musculoskeletal Diseases"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","   Nervous System Diseases"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","   Nutritional and Metabolic Diseases"]
["C3714580","Hypokalemic periodic paralysis type 1",772,3,"0.6652086315805826"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044","   Cardiovascular Diseases"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044","   Pathological Conditions, Signs and Symptoms"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047","   Cardiovascular Diseases"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047","   Pathological Conditions, Signs and Symptoms"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647","   Cardiovascular Diseases"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647","   Pathological Conditions, Signs and Symptoms"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307","   Cardiovascular Diseases"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307","   Pathological Conditions, Signs and Symptoms"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863","   Cardiovascular Diseases"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863","   Pathological Conditions, Signs and Symptoms"]
["C3151431","ATRIAL FIBRILLATION, FAMILIAL, 9",767,3,"0.8454787802995483"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609","   Cardiovascular Diseases"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609","   Pathological Conditions, Signs and Symptoms"]
["C2732979","Acquired long QT syndrome",766,3,"0.7226407697041758"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609","   Cardiovascular Diseases"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609","   Pathological Conditions, Signs and Symptoms"]
["C0264893","Nodal rhythm disorder",764,3,"0.9999999999999991"]
["C0348626","Other specified cardiac arrhythmias",764,3,"0.9999999999999991"]
["C1399226","Ectopic rhythm",764,3,"0.9999999999999991"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884","   Infections"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868","   Infections"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868","   Respiratory Tract Diseases"]
["C0206525","Tuberculosis, Drug-Resistant",756,3,"0.6568205172927352","   Infections"]
["C0581384","Chronic anemia",753,3,"1.0"]
["C1142276","Renal anemia",753,3,"1.0"]
["C1442826","Neonatal necrotizing enterocolitis",753,3,"1.0"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785","   Male Urogenital Diseases"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785","   Female Urogenital Diseases and Pregnancy Complications"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256","   Male Urogenital Diseases"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256","   Female Urogenital Diseases and Pregnancy Complications"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806","   Male Urogenital Diseases"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806","   Female Urogenital Diseases and Pregnancy Complications"]
["C0151860","Acquired porencephaly",739,3,"0.7212362652483564"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212","   Musculoskeletal Diseases"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212","   Nervous System Diseases"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4082173","Porencephaly",739,3,"0.8350679879689631","   Musculoskeletal Diseases"]
["C4082173","Porencephaly",739,3,"0.8350679879689631","   Nervous System Diseases"]
["C4082173","Porencephaly",739,3,"0.8350679879689631","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0","   Nervous System Diseases"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0","   Musculoskeletal Diseases"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0","   Nervous System Diseases"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0","   Nervous System Diseases"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0007194","Hypertrophic Cardiomyopathy",733,3,"0.22620869394767568","   Cardiovascular Diseases"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078","   Cardiovascular Diseases"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985","   Cardiovascular Diseases"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195"]
["C3150909","D-2-HYDROXYGLUTARIC ACIDURIA 2",727,3,"0.3286182771296225"]
["C3152055","D-2-HYDROXYGLUTARIC ACIDURIA 1",727,3,"0.5957431952119965"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","   Musculoskeletal Diseases"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298","   Musculoskeletal Diseases"]
["C3553958","METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA",726,3,"0.6091163941300523"]
["C0263627","Calcinosis universalis",720,3,"0.9898149399542363"]
["C0282102","Chondrodysplasia punctata, X-linked dominant type",720,3,"0.9758431221748454","   Musculoskeletal Diseases"]
["C4085243","MEND SYNDROME",720,3,"0.9898149399542363"]
["C1290587","Failure of tooth eruption",719,3,"1.0"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0","   Musculoskeletal Diseases"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852222","Failure of Tooth Eruption, Primary",719,3,"1.0","   Stomatognathic Diseases"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548","   Male Urogenital Diseases"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548","   Female Urogenital Diseases and Pregnancy Complications"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548","   Skin and Connective Tissue Diseases"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548","   Endocrine System Diseases"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Neoplasms"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Male Urogenital Diseases"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Female Urogenital Diseases and Pregnancy Complications"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Skin and Connective Tissue Diseases"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548","   Endocrine System Diseases"]
["C3670629","Orthokeratotic hyperkeratosis",715,3,"0.6939368978354226"]
["C0017612","Glaucoma, Open-Angle",706,3,"0.9176231352915618","   Eye Diseases"]
["C0271148","Secondary Open Angle Glaucoma",706,3,"0.9130639727499217","   Eye Diseases"]
["C0339573","Glaucoma, Primary Open Angle",706,3,"0.8729406052878422","   Eye Diseases"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995","   Eye Diseases"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995","   Nutritional and Metabolic Diseases"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356","   Eye Diseases"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356","   Nutritional and Metabolic Diseases"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356","   Eye Diseases"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356","   Nutritional and Metabolic Diseases"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523","   Nervous System Diseases"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523","   Otorhinolaryngologic Diseases"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523","   Nervous System Diseases"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523","   Pathological Conditions, Signs and Symptoms"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542","   Nervous System Diseases"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1408174","Hypertrophic neuropathy of infancy",689,3,"0.9999999999999986"]
["C1408182","Hereditary motor and sensory neuropathy, types I-IV",689,3,"0.9999999999999986"]
["C2875300","Peroneal muscular atrophy (axonal type) (hypertrophic type)",689,3,"0.9999999999999986"]
["C0265010","Ruptured thoracic aortic aneurysm",684,3,"1.0"]
["C0265012","Ruptured abdominal aortic aneurysm",684,3,"1.0"]
["C1305122","Thoracoabdominal aortic aneurysm, ruptured",684,3,"1.0"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548","   Nervous System Diseases"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548","   Cardiovascular Diseases"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213","   Nervous System Diseases"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213","   Cardiovascular Diseases"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213","   Nervous System Diseases"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213","   Cardiovascular Diseases"]
["C3279664","Emberger syndrome",675,3,"1.0"]
["C3280030","GATA2 Deficiency",675,3,"1.0"]
["C3711382","Familial Acute Myeloid Leukemia with Mutated Cebpa",675,3,"1.0","   Neoplasms"]
["C0030481","Tropical Spastic Paraparesis",669,3,"0.7825710467700424","   Nervous System Diseases"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828","   Eye Diseases"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828","   Eye Diseases"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","   Male Urogenital Diseases"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","   Female Urogenital Diseases and Pregnancy Complications"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","   Cardiovascular Diseases"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","   Endocrine System Diseases"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","   Male Urogenital Diseases"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","   Female Urogenital Diseases and Pregnancy Complications"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","   Cardiovascular Diseases"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557","   Endocrine System Diseases"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","   Male Urogenital Diseases"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","   Female Urogenital Diseases and Pregnancy Complications"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","   Cardiovascular Diseases"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009","   Endocrine System Diseases"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175","   Nervous System Diseases"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175","   Eye Diseases"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169","   Nervous System Diseases"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169","   Eye Diseases"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169","   Nutritional and Metabolic Diseases"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169","   Pathological Conditions, Signs and Symptoms"]
["C4304725","Leber plus disease",666,3,"0.694539227517883"]
["C0031111","Periostitis",665,3,"0.9913935913667882","   Infections"]
["C0031111","Periostitis",665,3,"0.9913935913667882","   Musculoskeletal Diseases"]
["C0524988","Schnitzler Syndrome",665,3,"0.9888710994603438","   Immune System Diseases"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112","   Skin and Connective Tissue Diseases"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Musculoskeletal Diseases"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Nervous System Diseases"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Pathological Conditions, Signs and Symptoms"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Behavior and Behavior Mechanisms"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741","   Mental Disorders"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Musculoskeletal Diseases"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Nervous System Diseases"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Pathological Conditions, Signs and Symptoms"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Behavior and Behavior Mechanisms"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616","   Mental Disorders"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Musculoskeletal Diseases"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Nervous System Diseases"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Pathological Conditions, Signs and Symptoms"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Behavior and Behavior Mechanisms"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798","   Mental Disorders"]
["C0268618","Cystathioninemia",651,3,"0.6261277013972278"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349","   Nervous System Diseases"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349","   Skin and Connective Tissue Diseases"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349","   Nutritional and Metabolic Diseases"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095","   Nutritional and Metabolic Diseases"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035","   Skin and Connective Tissue Diseases"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708","   Skin and Connective Tissue Diseases"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008","   Skin and Connective Tissue Diseases"]
["C0002874","Aplastic Anemia",649,3,"0.5901995607011472","   Hemic and Lymphatic Diseases"]
["C0178416","Hypoplastic anemia",649,3,"0.6198763860470586","   Hemic and Lymphatic Diseases"]
["C0348890","Aplastic anemia, idiopathic",649,3,"0.45142364766888704","   Hemic and Lymphatic Diseases"]
["C0038605","Subungual hyperkeratosis",647,3,"0.12349593724483938"]
["C2609071","Olmsted syndrome",647,3,"0.6115441670349493"]
["C4225339","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",647,3,"0.6389246684184573"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234","   Musculoskeletal Diseases"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234","   Stomatognathic Diseases"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234","   Pathological Conditions, Signs and Symptoms"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879","   Eye Diseases"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024788","Anterior chamber synechiae",645,3,"0.6250101944893658"]
["C0022904","Lacrimal Apparatus Diseases",644,3,"0.776674791710952","   Eye Diseases"]
["C0152227","Excessive tearing",644,3,"0.5102236067263464","   Eye Diseases"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Musculoskeletal Diseases"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Nervous System Diseases"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Eye Diseases"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Pathological Conditions, Signs and Symptoms"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Behavior and Behavior Mechanisms"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952","   Mental Disorders"]
["C4225370","MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",635,3,"1.0"]
["C4225371","MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",635,3,"1.0"]
["C4225372","MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",635,3,"1.0"]
["C0004782","Basal Ganglia Diseases",628,3,"0.8582926301108811","   Nervous System Diseases"]
["C0015371","Extrapyramidal Disorders",628,3,"0.7655680214129266","   Nervous System Diseases"]
["C0750951","Lenticulostriate Disorders",628,3,"0.8643775304349076","   Nervous System Diseases"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249","   Respiratory Tract Diseases"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931035","Pulmonary alveolar proteinosis, congenital",622,3,"0.7010064470016536","   Respiratory Tract Diseases"]
["C3280574","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",622,3,"0.3343465929888127"]
["C0014078","Venezuelan equine encephalomyelitis",620,3,"0.6221572821299786","   Nervous System Diseases"]
["C0275524","Coinfection",620,3,"0.37299630712862025","   Infections"]
["C0276623","Chronic viral hepatitis",620,3,"0.6052393843629835"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058","   Musculoskeletal Diseases"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Musculoskeletal Diseases"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Nervous System Diseases"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Endocrine System Diseases"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Pathological Conditions, Signs and Symptoms"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Behavior and Behavior Mechanisms"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716","   Mental Disorders"]
["C4310667","ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",616,3,"0.9995469127726716"]
["C0342495","Macronodular adrenal hyperplasia",614,3,"0.5687111613923593"]
["C1857451","Acth-Independent Macronodular Adrenal Hyperplasia",614,3,"-0.05936912691847838","   Endocrine System Diseases"]
["C4014803","ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2",614,3,"0.6554777932173166"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663","   Musculoskeletal Diseases"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280402","SCLEROSTEOSIS 2",604,3,"0.9092710230453434"]
["C4225377","MYASTHENIC SYNDROME, CONGENITAL, 17",604,3,"0.9092710230453434"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","   Skin and Connective Tissue Diseases"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","   Nutritional and Metabolic Diseases"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764","   Skin and Connective Tissue Diseases"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764","   Nutritional and Metabolic Diseases"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741","   Skin and Connective Tissue Diseases"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741","   Nutritional and Metabolic Diseases"]
["C0038522","Subacute Sclerosing Panencephalitis",597,3,"0.7063493783066593","   Nervous System Diseases"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035","   Nervous System Diseases"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035","   Hemic and Lymphatic Diseases"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035","   Immune System Diseases"]
["C0156221","Acute glomerulonephritis",597,3,"0.7890951737804504"]
["C1863534","Stargardt disease 4",590,3,"0.7923232625833374","   Eye Diseases"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357","   Eye Diseases"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357","   Eye Diseases"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","   Male Urogenital Diseases"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","   Female Urogenital Diseases and Pregnancy Complications"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","   Immune System Diseases"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894","   Male Urogenital Diseases"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894","   Female Urogenital Diseases and Pregnancy Complications"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894","   Immune System Diseases"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782","   Male Urogenital Diseases"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782","   Immune System Diseases"]
["C0032269","Pneumococcal Infections",588,3,"0.2159556364799022","   Infections"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705","   Infections"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705","   Immune System Diseases"]
["C1843256","IRAK4 Deficiency",588,3,"-0.14411104728402485","   Immune System Diseases"]
["C1862937","AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1",582,3,"0.7179597827326383"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515","   Nervous System Diseases"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975","   Nervous System Diseases"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975","   Nutritional and Metabolic Diseases"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975","   Mental Disorders"]
["C1838644","Stargardt disease 3",578,3,"0.8897922138617702","   Eye Diseases"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565","   Nervous System Diseases"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565","   Skin and Connective Tissue Diseases"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565","   Pathological Conditions, Signs and Symptoms"]
["C3280856","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",578,3,"0.9630267096025565"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448","   Eye Diseases"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3552227","ACHROMATOPSIA 6",577,3,"0.8575898266315448"]
["C3665342","Progressive cone degeneration",577,3,"0.7549496193588813"]
["C0242852","Proliferative vitreoretinopathy",576,3,"0.8723962637600372","   Eye Diseases"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777"]
["C1850109","Vitreoretinopathy",576,3,"0.5911328219081341"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728","   Hemic and Lymphatic Diseases"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803","   Cardiovascular Diseases"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803","   Skin and Connective Tissue Diseases"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803","   Immune System Diseases"]
["C1960459","Hereditary angioedema with normal C1 esterase inhibitor activity",561,3,"0.9853275367424803"]
["C0398775","Hereditary C1 esterase inhibitor deficiency - deficient factor",558,3,"1.0"]
["C0398776","Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",558,3,"1.0"]
["C1852700","Complement Component 4, Partial Deficiency Of",558,3,"1.0","   Immune System Diseases"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456","   Cardiovascular Diseases"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456","   Skin and Connective Tissue Diseases"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456","   Immune System Diseases"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903","   Cardiovascular Diseases"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903","   Skin and Connective Tissue Diseases"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903","   Immune System Diseases"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576","   Cardiovascular Diseases"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576","   Skin and Connective Tissue Diseases"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576","   Immune System Diseases"]
["C0342191","Familial dyshormonogenetic goiter",552,3,"0.862527491884882"]
["C0342194","Thyroid Dyshormonogenesis 3",552,3,"0.7827759616504689","   Endocrine System Diseases"]
["C1321809","HYPOTHYROIDISM, GOITROUS",552,3,"0.29301253514214554"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107","   Neoplasms"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107","   Endocrine System Diseases"]
["C0345244","Neuronal intestinal dysplasia",551,3,"0.9599060098797502"]
["C0878627","Mucosal neuromas",551,3,"0.9599060098797502"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655","   Nutritional and Metabolic Diseases"]
["C4020801","Respiratory complex II deficiency",543,3,"0.7038195613641884"]
["C4025278","Stress/infection-induced lactic acidosis",543,3,"0.8029417514500117"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Musculoskeletal Diseases"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Male Urogenital Diseases"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Endocrine System Diseases"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406","   Pathological Conditions, Signs and Symptoms"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Musculoskeletal Diseases"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Male Urogenital Diseases"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Female Urogenital Diseases and Pregnancy Complications"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Endocrine System Diseases"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884","   Pathological Conditions, Signs and Symptoms"]
["C3887743","WILMS TUMOR 2",535,3,"0.9993422950979884"]
["C0521648","Neonatal respiratory failure",534,3,"1.0"]
["C1970456","Surfactant Metabolism Dysfunction, Pulmonary, 3",534,3,"1.0","   Respiratory Tract Diseases"]
["C3161105","Neuroendocrine cell hyperplasia of infancy",534,3,"1.0"]
["C0400914","Acute hepatitis C",531,3,"0.6261110645443679"]
["C3887641","Recurrent hepatitis",531,3,"0.49895779289241626"]
["C4288963","Hepatitis C Virus Infection",531,3,"0.3365397970214199"]
["C3714932","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",518,3,"0.7035716343580917"]
["C3809216","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",518,3,"0.6580359225190742"]
["C3809221","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14",518,3,"0.8170220017721667"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432","   Musculoskeletal Diseases"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432","   Nervous System Diseases"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837","   Musculoskeletal Diseases"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837","   Nervous System Diseases"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150413","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",515,3,"0.7043975488648069"]
["C3150411","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",514,3,"0.6411331857370002"]
["C3150416","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2",514,3,"0.807506899125178"]
["C3150418","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",514,3,"0.6914998959080981"]
["C1969024","CARDIOMYOPATHY, DILATED, 1X",512,3,"0.9366599214634904","   Cardiovascular Diseases"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904","   Musculoskeletal Diseases"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904","   Nervous System Diseases"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751052","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4",512,3,"0.8331274404615924"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548","   Musculoskeletal Diseases"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976","   Nervous System Diseases"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976","   Pathological Conditions, Signs and Symptoms"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976","   Nervous System Diseases"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976","   Pathological Conditions, Signs and Symptoms"]
["C0085652","Pyoderma Gangrenosum",500,3,"0.6918009783286836","   Skin and Connective Tissue Diseases"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638","   Infections"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638","   Musculoskeletal Diseases"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638","   Skin and Connective Tissue Diseases"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383","   Nutritional and Metabolic Diseases"]
["C0025289","Meningitis",488,3,"0.4054667660952955","   Nervous System Diseases"]
["C0030167","Pachymeningitis",488,3,"0.5842891022745549","   Nervous System Diseases"]
["C0085396","Neisseriaceae Infections",488,3,"0.36184227237429056","   Infections"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452","   Digestive System Diseases"]
["C0238339","Hereditary pancreatitis",482,3,"0.679838830712387","   Digestive System Diseases"]
["C4080064","Autosomal Dominant Hereditary Pancreatitis",482,3,"0.5804737220382183","   Digestive System Diseases"]
["C0340100","High altitude pulmonary edema",473,3,"0.9623565415098887","   Respiratory Tract Diseases"]
["C0340552","High altitude pulmonary hypertension",473,3,"0.9820151197518853","   Respiratory Tract Diseases"]
["C3810403","MOYAMOYA DISEASE 6 WITH ACHALASIA",473,3,"0.9820151197518853"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669","   Eye Diseases"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078","   Eye Diseases"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485","   Eye Diseases"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615","   Digestive System Diseases"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615","   Respiratory Tract Diseases"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184","   Digestive System Diseases"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184","   Respiratory Tract Diseases"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039","   Digestive System Diseases"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039","   Respiratory Tract Diseases"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0","   Nervous System Diseases"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0","   Eye Diseases"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0","   Eye Diseases"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3541474","ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",458,3,"1.0"]
["C0016052","Fibromuscular Dysplasia",452,3,"0.9238496277384697","   Cardiovascular Diseases"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647","   Skin and Connective Tissue Diseases"]
["C2315541","Diverticulum of renal calyx",452,3,"0.9238496277384697"]
["C2751316","Glaucoma 3, Primary Congenital, D",447,3,"1.0","   Eye Diseases"]
["C3538951","MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",447,3,"1.0"]
["C3553785","WEILL-MARCHESANI SYNDROME 3",447,3,"1.0"]
["C0339578","Corticosteroid-induced glaucoma",445,3,"0.8538617180604857"]
["C1842028","GLAUCOMA 1, OPEN ANGLE, A",445,3,"0.5674554783513097","   Eye Diseases"]
["C4068743","Juvenile open angle",445,3,"0.9064004855289406"]
["C1856439","GLAUCOMA 3, PRIMARY CONGENITAL, A",444,3,"0.2380619977083376","   Eye Diseases"]
["C2981140","Glaucoma of childhood",444,3,"0.41241971712338665"]
["C3278153","GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",444,3,"0.7011851234458101"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","   Otorhinolaryngologic Diseases"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","   Nervous System Diseases"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","   Eye Diseases"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","   Pathological Conditions, Signs and Symptoms"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836","   Mental Disorders"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217","   Nervous System Diseases"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217","   Cardiovascular Diseases"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217","   Nutritional and Metabolic Diseases"]
["C4015146","RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES",435,3,"0.998645617247303"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165","   Nervous System Diseases"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165","   Cardiovascular Diseases"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165","   Nutritional and Metabolic Diseases"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398","   Nervous System Diseases"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398","   Cardiovascular Diseases"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398","   Nutritional and Metabolic Diseases"]
["C2677774","Age-Related Macular Degeneration type 11",433,3,"0.7150800102457622","   Eye Diseases"]
["C1704299","Hypobetalipoproteinemia, Familial, Apolipoprotein B",432,3,"0.9924597476952364","   Nutritional and Metabolic Diseases"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181","   Nutritional and Metabolic Diseases"]
["C3888316","Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B",432,3,"0.9924597476952364"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225","   Digestive System Diseases"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225","   Skin and Connective Tissue Diseases"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225","   Nutritional and Metabolic Diseases"]
["C0268323","Familial porphyria cutanea tarda",429,3,"0.9461494793810225"]
["C0342861","Uroporphyrinogen decarboxylase deficiency",429,3,"0.8874155545355793"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0","   Musculoskeletal Diseases"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0","   Musculoskeletal Diseases"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0","   Musculoskeletal Diseases"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0856742","Post MI",423,3,"0.6130718739759924"]
["C1959859","Acute lyme disease",423,3,"0.7717929577686702"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702","   Musculoskeletal Diseases"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864851","Pigmented Nodular Adrenocortical Disease, Primary, 2",422,3,"0.4005477155037526","   Endocrine System Diseases"]
["C4025760","Primary hypercorticolism",422,3,"0.4160512167133256"]
["C4304832","Primary pigmented nodular adrenocortical disease",422,3,"0.41926813142409314"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743","   Hemic and Lymphatic Diseases"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743","   Pathological Conditions, Signs and Symptoms"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364","   Nervous System Diseases"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364","   Pathological Conditions, Signs and Symptoms"]
["C2675059","Refractory macrocytic anemia",401,3,"0.7833326365550884"]
["C0391816","Tietz syndrome",396,3,"1.0","   Otorhinolaryngologic Diseases"]
["C0391816","Tietz syndrome",396,3,"1.0","   Nervous System Diseases"]
["C0391816","Tietz syndrome",396,3,"1.0","   Eye Diseases"]
["C0391816","Tietz syndrome",396,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0391816","Tietz syndrome",396,3,"1.0","   Skin and Connective Tissue Diseases"]
["C0391816","Tietz syndrome",396,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0391816","Tietz syndrome",396,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1860339","WAARDENBURG SYNDROME, TYPE IIA",396,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310625","COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",396,3,"1.0"]
["C0221228","Comedone",388,3,"0.2997783391966423"]
["C3280309","ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",388,3,"0.8370005939492603"]
["C4310760","LETHAL CONGENITAL CONTRACTURE SYNDROME 10",388,3,"0.8370005939492603"]
["C1843181","Noonan syndrome-like disorder with loose anagen hair",386,3,"1.0"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0","   Musculoskeletal Diseases"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0","   Cardiovascular Diseases"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0","   Skin and Connective Tissue Diseases"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4478716","NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1",386,3,"1.0"]
["C1969342","PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",383,3,"0.9868324341050282","   Respiratory Tract Diseases"]
["C1969343","Pulmonary Hypertension, Primary, Fenfluramine-Associated",383,3,"0.993366345217903","   Respiratory Tract Diseases"]
["C3714844","Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",383,3,"0.993366345217903","   Respiratory Tract Diseases"]
["C0456702","Severe childhood autosomal recessive muscular dystrophy",372,3,"0.5271687596976515"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604","   Musculoskeletal Diseases"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604","   Respiratory Tract Diseases"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604","   Nervous System Diseases"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604","   Cardiovascular Diseases"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","   Musculoskeletal Diseases"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","   Respiratory Tract Diseases"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","   Nervous System Diseases"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","   Cardiovascular Diseases"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085077","Sweet Syndrome",367,3,"0.953678479718495","   Skin and Connective Tissue Diseases"]
["C0472762","Alpha trait thalassemia",367,3,"0.818970631667975"]
["C4016158","ALPHA-THALASSEMIA, HMONG TYPE",367,3,"0.953678479718495"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603","   Hemic and Lymphatic Diseases"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2873756","Severe beta thalassemia",365,3,"0.9386566716242557"]
["C3665425","Hemoglobin M Disease",365,3,"0.9317457366317579","   Hemic and Lymphatic Diseases"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897","   Hemic and Lymphatic Diseases"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0472767","Beta thalassemia intermedia",364,3,"0.1724637368799377"]
["C4274391","Dominant beta-thalassemia",364,3,"0.6207944424505132"]
["C4290090","diabetes (mellitus) due to autoimmune process",360,3,"0.9999999999999989"]
["C4290091","diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction",360,3,"0.9999999999999989"]
["C4290092","idiopathic diabetes (mellitus)",360,3,"0.9999999999999989"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0","   Nervous System Diseases"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4084823","MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",355,3,"1.0"]
["C4225405","MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",355,3,"1.0"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674","   Nervous System Diseases"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674","   Mental Disorders"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225","   Nervous System Diseases"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225","   Nutritional and Metabolic Diseases"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225","   Mental Disorders"]
["C1838313","Pick Complex",345,3,"0.6843124998593689","   Nervous System Diseases"]
["C1838313","Pick Complex",345,3,"0.6843124998593689","   Nutritional and Metabolic Diseases"]
["C1838313","Pick Complex",345,3,"0.6843124998593689","   Mental Disorders"]
["C0038368","Stomatognathic Diseases",342,3,"0.9999999999999989","   Stomatognathic Diseases"]
["C1704330","Dental Diseases",342,3,"0.9999999999999989","   Stomatognathic Diseases"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Stomatognathic Diseases"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Otorhinolaryngologic Diseases"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Nervous System Diseases"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Eye Diseases"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989","   Pathological Conditions, Signs and Symptoms"]
["C0271846","Familial hyperparathyroidism",335,3,"0.6671952657434286"]
["C1840402","HYPERPARATHYROIDISM 1",335,3,"0.4071805099846771","   Endocrine System Diseases"]
["C1864729","HYPERPARATHYROIDISM 3",335,3,"0.6642752246845705"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0","   Musculoskeletal Diseases"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2609259","Symphysis Pubis Dysfunction",334,3,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4310807","BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME",334,3,"1.0"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862","   Nutritional and Metabolic Diseases"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862","   Endocrine System Diseases"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862","   Pathological Conditions, Signs and Symptoms"]
["C1832648","Hypoparathyroidism familial isolated",331,3,"0.8584214123250228","   Endocrine System Diseases"]
["C1840334","Hypoparathyroidism, Autosomal Recessive",331,3,"0.7384861939472478","   Endocrine System Diseases"]
["C1843244","EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2",325,3,"0.7528190837205182"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107","   Nervous System Diseases"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107","   Pathological Conditions, Signs and Symptoms"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085","   Nervous System Diseases"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085","   Pathological Conditions, Signs and Symptoms"]
["C0751122","Infantile Severe Myoclonic Epilepsy",322,3,"0.18096337931088682","   Nervous System Diseases"]
["C0752323","Focal Clonic Seizures",322,3,"0.6149643692687011","   Nervous System Diseases"]
["C4023511","Obtundation status",322,3,"0.6649472954377083"]
["C2748541","Brugada Syndrome 5",320,3,"1.0","   Cardiovascular Diseases"]
["C2748541","Brugada Syndrome 5",320,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3809311","ATRIAL FIBRILLATION, FAMILIAL, 13",320,3,"1.0"]
["C4479236","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52",320,3,"1.0"]
["C1853345","Generalized Epilepsy With Febrile Seizures Plus, Type 4",319,3,"0.9558758559257231"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022","   Nervous System Diseases"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022","   Pathological Conditions, Signs and Symptoms"]
["C3151191","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",319,3,"0.9558758559257231"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963","   Musculoskeletal Diseases"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248","   Musculoskeletal Diseases"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248","   Endocrine System Diseases"]
["C2748518","Lumbar scoliosis",313,3,"0.5772452536497906"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","   Male Urogenital Diseases"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","   Female Urogenital Diseases and Pregnancy Complications"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","   Nutritional and Metabolic Diseases"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848","   Endocrine System Diseases"]
["C0342541","Precocious pubarche",312,3,"0.4262996437255822"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646","   Male Urogenital Diseases"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646","   Nutritional and Metabolic Diseases"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646","   Endocrine System Diseases"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0","   Endocrine System Diseases"]
["C4014962","FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG",311,3,"1.0"]
["C4274078","Hyperinsulinism due to HNF4A deficiency",311,3,"1.0"]
["C1709353","Osteofibrous Dysplasia",310,3,"0.996624613942208","   Musculoskeletal Diseases"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486","   Musculoskeletal Diseases"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486","   Wounds and Injuries"]
["C4084709","DEAFNESS, AUTOSOMAL RECESSIVE 97",310,3,"0.998311106158486"]
["C0019372","Herpesviridae Infections",303,3,"0.5875335653359417"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422","   Nervous System Diseases"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422","   Pathological Conditions, Signs and Symptoms"]
["C0037140","B Virus Infection",303,3,"0.5876875690390145"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924","   Otorhinolaryngologic Diseases"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924","   Nervous System Diseases"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924","   Pathological Conditions, Signs and Symptoms"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924","   Mental Disorders"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754","   Nervous System Diseases"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3807295","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",301,3,"0.8967891029535924"]
["C0796122","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome",300,3,"0.027748819518484326"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507","   Nervous System Diseases"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507","   Eye Diseases"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007","   Nervous System Diseases"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007","   Eye Diseases"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968","   Nervous System Diseases"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968","   Pathological Conditions, Signs and Symptoms"]
["C3280168","NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",299,3,"0.1466285677888863"]
["C3280283","MENTAL RETARDATION, AUTOSOMAL DOMINANT 9",299,3,"0.5955823061584353"]
["C1839602","Neuropathy, Hereditary Sensory, X-Linked",297,3,"1.0"]
["C1842586","Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",297,3,"1.0"]
["C1850384","Neuropathy, Hereditary Sensory, Atypical",297,3,"1.0"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447","   Nervous System Diseases"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751540","Morvan\\'s Disease",293,3,"0.7890591451917791"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441","   Nervous System Diseases"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941","   Nervous System Diseases"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323","   Nervous System Diseases"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707","   Nervous System Diseases"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","   Nervous System Diseases"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","   Endocrine System Diseases"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796","   Musculoskeletal Diseases"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796","   Nervous System Diseases"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796","   Endocrine System Diseases"]
["C3875161","Anterior pituitary hormone deficiency",284,3,"0.7666949360137796"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","   Endocrine System Diseases"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136","   Endocrine System Diseases"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673","   Endocrine System Diseases"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","   Male Urogenital Diseases"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","   Female Urogenital Diseases and Pregnancy Complications"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","   Endocrine System Diseases"]
["C0342384","Idiopathic hypogonadotropic hypogonadism",275,3,"0.17421961945359982","   Endocrine System Diseases"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108","   Male Urogenital Diseases"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108","   Female Urogenital Diseases and Pregnancy Complications"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108","   Endocrine System Diseases"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513","   Male Urogenital Diseases"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513","   Female Urogenital Diseases and Pregnancy Complications"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513","   Endocrine System Diseases"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394","   Male Urogenital Diseases"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394","   Female Urogenital Diseases and Pregnancy Complications"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394","   Endocrine System Diseases"]
["C0269209","Hydrometrocolpos",272,3,"0.4693343490007862"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573","   Musculoskeletal Diseases"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573","   Female Urogenital Diseases and Pregnancy Complications"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573","   Cardiovascular Diseases"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573","   Nervous System Diseases"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0","   Musculoskeletal Diseases"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863371","BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY",271,3,"1.0"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0","   Musculoskeletal Diseases"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015","   Musculoskeletal Diseases"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047","   Musculoskeletal Diseases"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595","   Musculoskeletal Diseases"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010930","Dacryocystitis",267,3,"0.7173204998084639","   Eye Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Musculoskeletal Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Stomatognathic Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Otorhinolaryngologic Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Nervous System Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Eye Diseases"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578","   Pathological Conditions, Signs and Symptoms"]
["C0948060","Iridocele",267,3,"0.8255745980932205"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","   Musculoskeletal Diseases"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","   Nervous System Diseases"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","   Cardiovascular Diseases"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","   Nutritional and Metabolic Diseases"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838","   Musculoskeletal Diseases"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838","   Nervous System Diseases"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838","   Cardiovascular Diseases"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838","   Nutritional and Metabolic Diseases"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975","   Musculoskeletal Diseases"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975","   Nervous System Diseases"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975","   Cardiovascular Diseases"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975","   Nutritional and Metabolic Diseases"]
["C0149877","Hypoglycemic encephalopathy",264,3,"1.0"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0","   Nutritional and Metabolic Diseases"]
["C1864948","Hyperinsulinemic Hypoglycemia, Familial, 4",264,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853","   Nervous System Diseases"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853","   Pathological Conditions, Signs and Symptoms"]
["C3554449","MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",260,3,"0.8375518442369936"]
["C4539767","EXUDATIVE VITREORETINOPATHY 7",260,3,"0.9367837382438853"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","   Musculoskeletal Diseases"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","   Cardiovascular Diseases"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","   Skin and Connective Tissue Diseases"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655","   Musculoskeletal Diseases"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655","   Cardiovascular Diseases"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655","   Skin and Connective Tissue Diseases"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031","   Musculoskeletal Diseases"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031","   Cardiovascular Diseases"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031","   Skin and Connective Tissue Diseases"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881","   Musculoskeletal Diseases"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178","   Musculoskeletal Diseases"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178","   Nervous System Diseases"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595","   Neoplasms"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595","   Skin and Connective Tissue Diseases"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","   Neoplasms"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","   Nervous System Diseases"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417","   Neoplasms"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417","   Nervous System Diseases"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849","   Neoplasms"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849","   Nervous System Diseases"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4085252","PAGET DISEASE OF BONE 3",250,3,"1.0"]
["C4225326","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3",250,3,"1.0"]
["C4310693","NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",250,3,"1.0"]
["C1963905","Infantile free sialic acid storage disease",249,3,"1.0"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0","   Nervous System Diseases"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0","   Nutritional and Metabolic Diseases"]
["C2931872","Free sialic acid storage disease",249,3,"1.0","   Nervous System Diseases"]
["C2931872","Free sialic acid storage disease",249,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931872","Free sialic acid storage disease",249,3,"1.0","   Nutritional and Metabolic Diseases"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536","   Musculoskeletal Diseases"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536","   Nervous System Diseases"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706","   Musculoskeletal Diseases"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706","   Nervous System Diseases"]
["C2931471","Sialuria, French type",246,3,"0.7348478907662926"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","   Male Urogenital Diseases"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","   Female Urogenital Diseases and Pregnancy Complications"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","   Pathological Conditions, Signs and Symptoms"]
["C0559470","Allergy to peanuts",245,3,"0.938525446752615","   Immune System Diseases"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456","   Neoplasms"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456","   Digestive System Diseases"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456","   Endocrine System Diseases"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0","   Musculoskeletal Diseases"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0","   Nervous System Diseases"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0","   Eye Diseases"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4274307","Hypoplastic tibia and postaxial polydactyly syndrome",238,3,"1.0"]
["C0022783","Vulvar Lichen Sclerosus",232,3,"0.7311292287761382","   Female Urogenital Diseases and Pregnancy Complications"]
["C0023652","Lichen Sclerosus et Atrophicus",232,3,"0.56220929744473","   Skin and Connective Tissue Diseases"]
["C0950124","Disease due to Papilloma virus",232,3,"0.43494557468927125"]
["C1832814","Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant",230,3,"1.0"]
["C3806402","EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION",230,3,"1.0"]
["C3806403","Continuous spike and waves during slow sleep",230,3,"1.0"]
["C0343047","Complement component 5 deficiency",226,3,"1.0","   Immune System Diseases"]
["C3810402","ECULIZUMAB, POOR RESPONSE TO",226,3,"1.0"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0"]
["C0010246","Coxsackievirus Infections",223,3,"0.39862949737194436"]
["C0027059","Myocarditis",223,3,"0.31942533247535854","   Cardiovascular Diseases"]
["C0869523","Carditis",223,3,"0.5032068956524463","   Cardiovascular Diseases"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926","   Female Urogenital Diseases and Pregnancy Complications"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926","   Chemically-Induced Disorders"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929","   Female Urogenital Diseases and Pregnancy Complications"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929","   Chemically-Induced Disorders"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926","   Female Urogenital Diseases and Pregnancy Complications"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926","   Chemically-Induced Disorders"]
["C0796224","MENTAL RETARDATION, X-LINKED 18",220,3,"0.78215150987722"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005","   Nervous System Diseases"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366","   Pathological Conditions, Signs and Symptoms"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366","   Mental Disorders"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Musculoskeletal Diseases"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Stomatognathic Diseases"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Nervous System Diseases"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Cardiovascular Diseases"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077","   Nutritional and Metabolic Diseases"]
["C3888244","AICARDI-GOUTIERES SYNDROME 7",209,3,"0.652794315815637"]
["C4225427","SINGLETON-MERTEN SYNDROME 1",209,3,"0.8288622551983255"]
["C0456097","Congenital viral disease",207,3,"0.9610102910404928"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823","   Nervous System Diseases"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823","   Immune System Diseases"]
["C3280721","CHILBLAIN LUPUS 2",207,3,"0.9610102910404928"]
["C0393591","AICARDI-GOUTIERES SYNDROME",205,3,"0.6241787237771206"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303","   Nervous System Diseases"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303","   Immune System Diseases"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152","   Nervous System Diseases"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152","   Immune System Diseases"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999","   Nervous System Diseases"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999","   Pathological Conditions, Signs and Symptoms"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999","   Nervous System Diseases"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999","   Pathological Conditions, Signs and Symptoms"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999","   Nervous System Diseases"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999","   Pathological Conditions, Signs and Symptoms"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253","   Male Urogenital Diseases"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253","   Female Urogenital Diseases and Pregnancy Complications"]
["C2919166","Autosomal dominant focal segmental glomerulosclerosis",195,3,"0.6037754305541225"]
["C4049702","Focal Segmental Glomerulosclerosis, Not Otherwise Specified",195,3,"-0.09030889677372743"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844","   Musculoskeletal Diseases"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844","   Nervous System Diseases"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843","   Musculoskeletal Diseases"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843","   Nervous System Diseases"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901","   Musculoskeletal Diseases"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901","   Nervous System Diseases"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364","   Nervous System Diseases"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364","   Immune System Diseases"]
["C3715156","AMYOTROPHIC LATERAL SCLEROSIS 20",187,3,"0.9389039000347364"]
["C3809469","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3",187,3,"0.7697707142525831"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","   Musculoskeletal Diseases"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","   Nervous System Diseases"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","   Nutritional and Metabolic Diseases"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043","   Mental Disorders"]
["C3151403","AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA",186,3,"0.8640737966493615"]
["C4225244","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",186,3,"0.8640737966493615"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0","   Nervous System Diseases"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930826","Acute malaria",175,3,"1.0"]
["C3825986","Meningitis in children",175,3,"1.0"]
["C3151443","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",171,3,"1.0"]
["C3151444","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4",171,3,"1.0"]
["C3553617","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1",171,3,"1.0"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915","   Respiratory Tract Diseases"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915","   Immune System Diseases"]
["C0034535","Radiation Syndrome",168,3,"0.7596362438178388","   Wounds and Injuries"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388","   Immune System Diseases"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388","   Disorders of Environmental Origin"]
["C0003969","Ascorbic Acid Deficiency",164,3,"0.9765319805014785","   Nutritional and Metabolic Diseases"]
["C3279786","ANHAPTOGLOBINEMIA",164,3,"0.9539726447270853"]
["C3279787","HYPOHAPTOGLOBINEMIA (disorder)",164,3,"0.9765319805014785"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813","   Eye Diseases"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559","   Musculoskeletal Diseases"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559","   Skin and Connective Tissue Diseases"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559","   Immune System Diseases"]
["C3714757","Juvenile rheumatoid arthritis",149,3,"0.2129721415189397"]
["C0264969","Aneurysm of celiac artery",146,3,"1.0"]
["C0742747","High-output congestive heart failure",146,3,"1.0"]
["C4023119","Mesenteric artery aneurysm",146,3,"1.0"]
["C0029804","Other specified hemorrhagic conditions",143,3,"0.9684189356577974"]
["C0340804","Hereditary vascular fragility",143,3,"0.9684189356577974"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544","   Hemic and Lymphatic Diseases"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015","   Male Urogenital Diseases"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015","   Female Urogenital Diseases and Pregnancy Complications"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015","   Skin and Connective Tissue Diseases"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394","   Neoplasms"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394","   Male Urogenital Diseases"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394","   Female Urogenital Diseases and Pregnancy Complications"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394","   Skin and Connective Tissue Diseases"]
["C3806737","DEAFNESS, X-LINKED 6",141,3,"0.329413822965663"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775","   Male Urogenital Diseases"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775","   Female Urogenital Diseases and Pregnancy Complications"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775","   Pathological Conditions, Signs and Symptoms"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892","   Male Urogenital Diseases"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892","   Female Urogenital Diseases and Pregnancy Complications"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892","   Pathological Conditions, Signs and Symptoms"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507","   Male Urogenital Diseases"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507","   Skin and Connective Tissue Diseases"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685","   Male Urogenital Diseases"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685","   Female Urogenital Diseases and Pregnancy Complications"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685","   Skin and Connective Tissue Diseases"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","   Male Urogenital Diseases"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","   Female Urogenital Diseases and Pregnancy Complications"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","   Skin and Connective Tissue Diseases"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339","   Male Urogenital Diseases"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339","   Skin and Connective Tissue Diseases"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207","   Nervous System Diseases"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207","   Mental Disorders"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126","   Nervous System Diseases"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126","   Mental Disorders"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891","   Nervous System Diseases"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891","   Mental Disorders"]
["C0035579","Rickets",126,3,"0.26626137724990145","   Musculoskeletal Diseases"]
["C0035579","Rickets",126,3,"0.26626137724990145","   Nutritional and Metabolic Diseases"]
["C0221468","Vitamin D-dependent rickets",126,3,"0.5233397422833072"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","   Musculoskeletal Diseases"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","   Male Urogenital Diseases"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874","   Nutritional and Metabolic Diseases"]
["C0023283","Leishmaniasis, Cutaneous",123,3,"0.984115708481451","   Skin and Connective Tissue Diseases"]
["C0086540","Leishmaniasis, New World",123,3,"0.9930968578826108","   Skin and Connective Tissue Diseases"]
["C0086541","Urban cutaneous leishmaniasis",123,3,"0.9930968578826108","   Skin and Connective Tissue Diseases"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298","   Nutritional and Metabolic Diseases"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881","   Nutritional and Metabolic Diseases"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249","   Nutritional and Metabolic Diseases"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861","   Hemic and Lymphatic Diseases"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861","   Immune System Diseases"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057","   Infections"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057","   Digestive System Diseases"]
["C0024205","Lymphadenitis",113,3,"0.8360195077066253","   Hemic and Lymphatic Diseases"]
["C1837023","CATARACT, CONGENITAL, CERULEAN TYPE, 3",111,3,"1.0","   Eye Diseases"]
["C3540850","CATARACT 4, MULTIPLE TYPES",111,3,"1.0"]
["C3888390","Cataract, Punctate, Progressive Juvenile-Onset",111,3,"1.0","   Eye Diseases"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048","   Female Urogenital Diseases and Pregnancy Complications"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014179","Endometritis",110,3,"0.9940982941196048","   Female Urogenital Diseases and Pregnancy Complications"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347","   Female Urogenital Diseases and Pregnancy Complications"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0157917","Pauciarticular juvenile rheumatoid arthritis",106,3,"0.31631902783291815"]
["C0221052","Chronic berylliosis",106,3,"0.5959839981607429"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174","   Nervous System Diseases"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174","   Immune System Diseases"]
["C0014324","Entamoebiasis",100,3,"0.6206861661801247"]
["C0151332","Active tuberculosis",100,3,"0.2215154056623684"]
["C4316791","Entamoeba histolytica Infection",100,3,"0.6206861661801247"]
["C0001828","Agricultural Workers\\' Diseases",97,3,"1.0","   Occupational Diseases"]
["C0019112","Hemorrhoids",97,3,"1.0","   Digestive System Diseases"]
["C0019112","Hemorrhoids",97,3,"1.0","   Cardiovascular Diseases"]
["C0282550","Persian Gulf Syndrome",97,3,"1.0","   Occupational Diseases"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673","   Male Urogenital Diseases"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673","   Immune System Diseases"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079","   Male Urogenital Diseases"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079","   Immune System Diseases"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379","   Male Urogenital Diseases"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379","   Female Urogenital Diseases and Pregnancy Complications"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379","   Immune System Diseases"]
["C0149642","Cervical lymphadenitis",89,3,"0.7173049458911258"]
["C0149896","Primary gout",89,3,"0.7173049458911258"]
["C3890737","Autoinflammatory Syndrome",89,3,"0.4265838371316969"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345","   Skin and Connective Tissue Diseases"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345","   Pathological Conditions, Signs and Symptoms"]
["C1761613","Conjunctival hyperemia",85,3,"0.9814759996404766"]
["C0015974","Periodic fever",84,3,"0.3318934246371938"]
["C3889136","Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome",84,3,"0.6241137905432769"]
["C4268691","Tumor necrosis factor receptor associated periodic syndrome [TRAPS]",84,3,"0.4331845087088078"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584","   Musculoskeletal Diseases"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584","   Nervous System Diseases"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584","   Skin and Connective Tissue Diseases"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543","   Musculoskeletal Diseases"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543","   Nervous System Diseases"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543","   Skin and Connective Tissue Diseases"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317","   Musculoskeletal Diseases"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317","   Nervous System Diseases"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317","   Skin and Connective Tissue Diseases"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393","   Respiratory Tract Diseases"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393","   Otorhinolaryngologic Diseases"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393","   Immune System Diseases"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072","   Skin and Connective Tissue Diseases"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072","   Immune System Diseases"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072","   Chemically-Induced Disorders"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038","   Endocrine System Diseases"]
["C0023348","Leprosy, Lepromatous",77,3,"0.6627451881489584","   Infections"]
["C0868908","Pancolitis",77,3,"0.8013174836134267"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267","   Infections"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267","   Male Urogenital Diseases"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267","   Female Urogenital Diseases and Pregnancy Complications"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286","   Immune System Diseases"]
["C1845604","Recurrent bacterial meningitis",72,3,"0.7930087106074266"]
["C0003615","Appendicitis",68,3,"0.9963609431550348","   Infections"]
["C0003615","Appendicitis",68,3,"0.9963609431550348","   Digestive System Diseases"]
["C0729531","Viral respiratory infection",68,3,"0.9981758517332591"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583","   Infections"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583","   Digestive System Diseases"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464","   Nervous System Diseases"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464","   Mental Disorders"]
["C1863053","Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy",65,3,"0.9798736161185492"]
["C3549448","ALZHEIMER DISEASE, PROTECTION AGAINST",65,3,"0.9798736161185492"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181","   Nervous System Diseases"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181","   Cardiovascular Diseases"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181","   Nutritional and Metabolic Diseases"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178","   Nervous System Diseases"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178","   Cardiovascular Diseases"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178","   Nutritional and Metabolic Diseases"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334","   Nervous System Diseases"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334","   Cardiovascular Diseases"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334","   Nutritional and Metabolic Diseases"]
["C0029400","Osteitis",60,3,"0.49661527345423834","   Musculoskeletal Diseases"]
["C0263680","Chronic arthritis",60,3,"0.6693095654728507"]
["C2936258","Peri-Implantitis",60,3,"0.6270184777239977","   Stomatognathic Diseases"]
["C0029877","Ear Inflammation",57,3,"0.27129105829368555","   Otorhinolaryngologic Diseases"]
["C0340170","Complicated pneumoconiosis",57,3,"0.20204941957775405"]
["C0699744","Infection of ear",57,3,"0.13495340606489006","   Otorhinolaryngologic Diseases"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","   Male Urogenital Diseases"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","   Female Urogenital Diseases and Pregnancy Complications"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","   Endocrine System Diseases"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","   Pathological Conditions, Signs and Symptoms"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181","   Musculoskeletal Diseases"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181","   Pathological Conditions, Signs and Symptoms"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665","   Musculoskeletal Diseases"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665","   Pathological Conditions, Signs and Symptoms"]
["C0836924","Thrombocytosis",48,3,"0.5811053997945733","   Hemic and Lymphatic Diseases"]
["C4273671","Inherited predisposition to essential thrombocythemia",48,3,"0.5768411149998041"]
["C4303761","Familial thrombocytosis",48,3,"0.6496419973713721"]
["C0002351","Altitude Sickness",45,3,"1.0","   Respiratory Tract Diseases"]
["C2673187","Erythrocytosis, Familial, 4",45,3,"1.0","   Hemic and Lymphatic Diseases"]
["C4045968","Altitude Hypoxia",45,3,"1.0","   Respiratory Tract Diseases"]
["C0002063","Alkalosis",40,3,"0.5576724577582384","   Nutritional and Metabolic Diseases"]
["C0597854","renin induced hypertension",40,3,"0.5829787159870976"]
["C1397307","Cardiac fibrosis",40,3,"0.48008148630983444"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0","   Nervous System Diseases"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0","   Cardiovascular Diseases"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0","   Nervous System Diseases"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0","   Cardiovascular Diseases"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0","   Nervous System Diseases"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0","   Cardiovascular Diseases"]
["C0030807","Pemphigus",30,3,"0.5529733602232959","   Skin and Connective Tissue Diseases"]
["C0030807","Pemphigus",30,3,"0.5529733602232959","   Immune System Diseases"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895","   Skin and Connective Tissue Diseases"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895","   Immune System Diseases"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965","   Skin and Connective Tissue Diseases"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965","   Immune System Diseases"]
["C1332655","C3 DEFICIENCY",29,3,"1.0"]
["C1969651","Macular Degeneration, Age-Related, 9",29,3,"1.0","   Eye Diseases"]
["C3151071","COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",29,3,"1.0","   Immune System Diseases"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996","   Eye Diseases"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996","   Endocrine System Diseases"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996","   Immune System Diseases"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079","   Eye Diseases"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079","   Endocrine System Diseases"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079","   Immune System Diseases"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079","   Eye Diseases"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079","   Endocrine System Diseases"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079","   Immune System Diseases"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344","   Musculoskeletal Diseases"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344","   Pathological Conditions, Signs and Symptoms"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296","   Musculoskeletal Diseases"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296","   Pathological Conditions, Signs and Symptoms"]
["C4479260","AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",5,3,"0.5695994785299975"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","   Nutritional and Metabolic Diseases"]
["C1970051","METABOLIC SYNDROME, PROTECTION AGAINST",0,3,"0.6496303960143336"]
["C2930930","Abdominal obesity metabolic syndrome",0,3,"0.18983250123983675","   Nutritional and Metabolic Diseases"]
["C1850985","Fragile Site 16p12",2198,2,"1.0"]
["C3149276","CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",2198,2,"1.0"]
["C0796218","MENTAL RETARDATION, X-LINKED 12",2196,2,"1.0"]
["C0796242","MENTAL RETARDATION, X-LINKED 35",2196,2,"1.0"]
["C0600336","Subcorneal pustular dermatosis",2195,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1274167","IgA pemphigus",2195,2,"1.0"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0","   Musculoskeletal Diseases"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310730","TOOTH AGENESIS, SELECTIVE, 8",2194,2,"1.0"]
["C0149756","Fasciitis, Plantar",2193,2,"1.0","   Musculoskeletal Diseases"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0","   Neoplasms"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0","   Musculoskeletal Diseases"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0","   Skin and Connective Tissue Diseases"]
["C4014291","OOCYTE MATURATION DEFECT 1",2191,2,"0.8716015596375228"]
["C4540205","OOCYTE MATURATION DEFECT 3",2191,2,"0.8716012392107805"]
["C3810349","ALZHEIMER DISEASE 19",2190,2,"1.0"]
["C4540404","SPINOCEREBELLAR ATAXIA 46",2190,2,"1.0"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0549150","Pseudofolliculitis barbae (disorder)",2189,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0338650","Catatonia, Organic",2186,2,"1.0","   Nervous System Diseases"]
["C0338650","Catatonia, Organic",2186,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0338650","Catatonia, Organic",2186,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0750992","Catatonia, Malignant",2186,2,"1.0","   Nervous System Diseases"]
["C0750992","Catatonia, Malignant",2186,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0750992","Catatonia, Malignant",2186,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0029342","Orthomyxoviridae Infections",2185,2,"1.0"]
["C0276357","Swine influenza",2185,2,"1.0"]
["C1281440","Familial obesity",2184,2,"1.0"]
["C2937224","Constitutional obesity",2184,2,"1.0"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","   Male Urogenital Diseases"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","   Female Urogenital Diseases and Pregnancy Complications"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","   Nutritional and Metabolic Diseases"]
["C3245525","Familial renal glucosuria",2183,2,"0.9999979019244837"]
["C4304540","1q44 microdeletion syndrome",2182,2,"1.0"]
["C4479319","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54",2182,2,"1.0"]
["C0036093","Salivary Gland Diseases",2181,2,"1.0","   Stomatognathic Diseases"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0","   Eye Diseases"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3807873","FOVEAL HYPOPLASIA 2",2180,2,"1.0"]
["C1835845","Mitochondrial Phosphate Carrier Deficiency",2179,2,"1.0","   Nutritional and Metabolic Diseases"]
["C4024201","Low-output congestive heart failure",2179,2,"1.0"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Respiratory Tract Diseases"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Otorhinolaryngologic Diseases"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Nervous System Diseases"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Cardiovascular Diseases"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651","   Pathological Conditions, Signs and Symptoms"]
["C4225317","ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",2178,2,"0.4299195452999688"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151","   Nervous System Diseases"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151","   Nutritional and Metabolic Diseases"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961","   Musculoskeletal Diseases"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961","   Nervous System Diseases"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961","   Nutritional and Metabolic Diseases"]
["C0553757","Olfaction Disorders",2176,2,"1.0","   Nervous System Diseases"]
["C0553757","Olfaction Disorders",2176,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3888024","Cacosmia",2176,2,"1.0","   Nervous System Diseases"]
["C3888024","Cacosmia",2176,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4024944","Profound static encephalopathy",2175,2,"1.0"]
["C4225203","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",2175,2,"1.0"]
["C4310663","SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",2174,2,"1.0"]
["C4310664","SUDDEN CARDIAC FAILURE, INFANTILE",2174,2,"1.0"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0","   Eye Diseases"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0","   Male Urogenital Diseases"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0","   Nutritional and Metabolic Diseases"]
["C4310806","CATARACT 47",2173,2,"1.0"]
["C1855055","Microcephaly with spastic quadriplegia",2172,2,"1.0"]
["C4538630","MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS",2172,2,"1.0"]
["C1970414","Osteogenesis Imperfecta, Type V",2171,2,"0.9597158449731907"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112","   Musculoskeletal Diseases"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112","   Skin and Connective Tissue Diseases"]
["C3810160","SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",2169,2,"1.0"]
["C3810161","SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",2169,2,"1.0"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563","   Eye Diseases"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4021857","Speckled corneal dystrophy",2168,2,"0.9949909177015215"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Musculoskeletal Diseases"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Stomatognathic Diseases"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Nervous System Diseases"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0796133","Ramon Syndrome",2167,2,"1.0","   Mental Disorders"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0","   Cardiovascular Diseases"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931893","Lysosomal beta-mannosidase deficiency",2166,2,"1.0"]
["C4048196","beta-Mannosidosis",2166,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4048196","beta-Mannosidosis",2166,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0","   Musculoskeletal Diseases"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0","   Stomatognathic Diseases"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0","   Nervous System Diseases"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0","   Cardiovascular Diseases"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225666","CHROMOSOME 15q14 DELETION SYNDROME",2165,2,"1.0"]
["C4310678","LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C4310682","INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C3150154","CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",2162,2,"1.0"]
["C3150701","CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",2162,2,"1.0"]
["C4022537","Triangular tongue",2161,2,"1.0"]
["C4225192","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",2161,2,"1.0"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0","   Nervous System Diseases"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3203738","Fowler syndrome",2159,2,"1.0"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Musculoskeletal Diseases"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Stomatognathic Diseases"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Nervous System Diseases"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Male Urogenital Diseases"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Cardiovascular Diseases"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4085582","MENTAL RETARDATION, X-LINKED 102",2158,2,"1.0"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0","   Stomatognathic Diseases"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0","   Nervous System Diseases"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3553625","FACIAL PARESIS, HEREDITARY CONGENITAL, 3",2157,2,"1.0"]
["C0268635","Acyl-CoA dehydrogenase deficiency",2156,2,"1.0"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996","   Nervous System Diseases"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996","   Immune System Diseases"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996","   Nervous System Diseases"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996","   Immune System Diseases"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","   Male Urogenital Diseases"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3151476","MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)",2154,2,"1.0"]
["C3280730","EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",2153,2,"1.0"]
["C3280734","FEBRILE SEIZURES, FAMILIAL, 11",2153,2,"1.0"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0","   Nervous System Diseases"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3809309","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",2151,2,"1.0"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0","   Nervous System Diseases"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225323","BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",2150,2,"1.0"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0","   Nervous System Diseases"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0","   Nervous System Diseases"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0","   Nervous System Diseases"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0","   Nervous System Diseases"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0220721","CATARACT 46, JUVENILE-ONSET",2147,2,"1.0"]
["C2931791","Cataract Hutterite type",2147,2,"1.0"]
["C0740895","Hypochloremic metabolic alkalosis",2145,2,"1.0"]
["C3151209","HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",2145,2,"1.0"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265","   Neoplasms"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265","   Skin and Connective Tissue Diseases"]
["C4014283","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",2144,2,"0.8804662006873856"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0","   Respiratory Tract Diseases"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3553636","INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",2143,2,"1.0"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341","   Nervous System Diseases"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341","   Skin and Connective Tissue Diseases"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341","   Pathological Conditions, Signs and Symptoms"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807","   Male Urogenital Diseases"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085423","Gram-Negative Bacterial Infections",2141,2,"0.9843319613353985","   Infections"]
["C0085426","Gram-Positive Bacterial Infections",2141,2,"0.9849174799210693","   Infections"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0","   Nervous System Diseases"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4283894","MENTAL RETARDATION, X-LINKED 61",2140,2,"1.0"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0","   Nervous System Diseases"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3806722","PARKINSONISM WITH SPASTICITY, X-LINKED",2137,2,"1.0"]
["C4539783","SPERMATOGENIC FAILURE 18",2136,2,"1.0"]
["C4539798","CILIARY DYSKINESIA, PRIMARY, 37",2136,2,"1.0"]
["C2751084","Cardiomyopathy, Dilated, 1CC",2134,2,"1.0","   Cardiovascular Diseases"]
["C3151267","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",2134,2,"1.0"]
["C2678475","Cardiomyopathy, Dilated, 1z",2133,2,"1.0","   Cardiovascular Diseases"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0","   Cardiovascular Diseases"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027","   Musculoskeletal Diseases"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027","   Nervous System Diseases"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458","   Musculoskeletal Diseases"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458","   Nervous System Diseases"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458","   Nutritional and Metabolic Diseases"]
["C4225239","DESANTO-SHINAWI SYNDROME",2130,2,"1.0"]
["C4225431","CHROMOSOME 10p12-p11 DELETION SYNDROME",2130,2,"1.0"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648","   Nutritional and Metabolic Diseases"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322","   Nutritional and Metabolic Diseases"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0","   Musculoskeletal Diseases"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310811","MEESTER-LOEYS SYNDROME",2128,2,"1.0"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0","   Cardiovascular Diseases"]
["C0398581","T-cell lymphocytosis",2126,2,"1.0"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299","   Otorhinolaryngologic Diseases"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299","   Nervous System Diseases"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299","   Pathological Conditions, Signs and Symptoms"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666","   Otorhinolaryngologic Diseases"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666","   Nervous System Diseases"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666","   Cardiovascular Diseases"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666","   Pathological Conditions, Signs and Symptoms"]
["C0263912","Rotator cuff syndrome",2124,2,"0.6795023821736237","   Wounds and Injuries"]
["C3492944","Lentiginosis Profusa",2124,2,"0.6933365101845443","   Skin and Connective Tissue Diseases"]
["C3150897","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",2123,2,"1.0"]
["C3151351","DEAFNESS, AUTOSOMAL RECESSIVE 89",2123,2,"1.0"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","   Neoplasms"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","   Female Urogenital Diseases and Pregnancy Complications"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","   Endocrine System Diseases"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191","   Neoplasms"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191","   Female Urogenital Diseases and Pregnancy Complications"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191","   Endocrine System Diseases"]
["C3808589","IMMUNODEFICIENCY 32A",2121,2,"1.0"]
["C4016741","IMMUNODEFICIENCY 32B",2121,2,"1.0"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0","   Nervous System Diseases"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4014987","ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",2120,2,"1.0"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144","   Musculoskeletal Diseases"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658","   Musculoskeletal Diseases"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531","   Musculoskeletal Diseases"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531","   Nervous System Diseases"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531","   Nutritional and Metabolic Diseases"]
["C4310822","LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY",2118,2,"0.9948979750248561"]
["C0684324","Deficiency of phosphoglycerate kinase",2116,2,"0.9996383171337129"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976","   Nutritional and Metabolic Diseases"]
["C3150912","CONE-ROD DYSTROPHY 15",2114,2,"1.0"]
["C3552852","RETINITIS PIGMENTOSA 65",2114,2,"1.0"]
["C4310791","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",2112,2,"1.0"]
["C4310792","DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",2112,2,"1.0"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102","   Nervous System Diseases"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225418","MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",2111,2,"0.9993562479327174"]
["C3810295","SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",2110,2,"1.0"]
["C4014354","PONTOCEREBELLAR HYPOPLASIA, TYPE 9",2110,2,"1.0"]
["C3502075","Multiple Mitochondrial Dysfunctions Syndrome",2109,2,"0.3408546920892302","   Nutritional and Metabolic Diseases"]
["C4225348","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4",2109,2,"0.6646486142146268"]
["C3809165","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3",2108,2,"1.0"]
["C4225322","SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",2108,2,"1.0"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0","   Nervous System Diseases"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4013360","GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",2107,2,"1.0"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0","   Musculoskeletal Diseases"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0","   Nervous System Diseases"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150973","THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)",2106,2,"1.0"]
["C0398593","Specific granule deficiency",2105,2,"0.9882304956667116","   Hemic and Lymphatic Diseases"]
["C4479548","SPECIFIC GRANULE DEFICIENCY 2",2105,2,"0.9882813290181003"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","   Nervous System Diseases"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","   Eye Diseases"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","   Nervous System Diseases"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","   Eye Diseases"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4310699","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",2101,2,"0.9962469446876268"]
["C4310700","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44",2101,2,"0.9962356915624274"]
["C4022698","Acephalic spermatozoa",2100,2,"1.0"]
["C4310674","SPERMATOGENIC FAILURE 16",2100,2,"1.0"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","   Eye Diseases"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","   Male Urogenital Diseases"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","   Nervous System Diseases"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","   Male Urogenital Diseases"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156","   Neoplasms"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156","   Female Urogenital Diseases and Pregnancy Complications"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156","   Endocrine System Diseases"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605","   Neoplasms"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605","   Female Urogenital Diseases and Pregnancy Complications"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605","   Endocrine System Diseases"]
["C1867332","Reticular Dystrophy Of Retinal Pigment Epithelium",2097,2,"1.0","   Eye Diseases"]
["C4310680","RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES",2097,2,"1.0"]
["C0220730","Fryns syndrome",2092,2,"1.0","   Musculoskeletal Diseases"]
["C0220730","Fryns syndrome",2092,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220730","Fryns syndrome",2092,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3279775","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1",2092,2,"1.0"]
["C4015172","SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",2088,2,"1.0"]
["C4310776","RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS",2088,2,"1.0"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863","   Nervous System Diseases"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863","   Nutritional and Metabolic Diseases"]
["C2678415","Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency",2087,2,"0.9936009327432678"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0","   Musculoskeletal Diseases"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150833","OCCULT MACULAR DYSTROPHY",2086,2,"1.0"]
["C1328339","Dennie-Morgan fold",2084,2,"1.0"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0","   Musculoskeletal Diseases"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0","   Nervous System Diseases"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0","   Skin and Connective Tissue Diseases"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0","   Eye Diseases"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151206","LEBER CONGENITAL AMAUROSIS 15",2082,2,"1.0"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0","   Musculoskeletal Diseases"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0","   Nervous System Diseases"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4539873","MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",2080,2,"1.0"]
["C1321780","Hypomagnesmic tetany",2079,2,"0.9996802237891713"]
["C1865974","Hypomagnesemia 1, Intestinal",2079,2,"0.9996802261627306","   Nutritional and Metabolic Diseases"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0","   Musculoskeletal Diseases"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0","   Nervous System Diseases"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0","   Musculoskeletal Diseases"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0","   Nervous System Diseases"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0521839","Influenza-like illness",2076,2,"1.0"]
["C3809543","CILIARY DYSKINESIA, PRIMARY, 22",2076,2,"1.0"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0","   Nervous System Diseases"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3810405","POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",2075,2,"1.0"]
["C1861821","CATARACT, MARNER TYPE",2074,2,"0.9822017501741636","   Eye Diseases"]
["C3888417","CATARACT 5, MULTIPLE TYPES",2074,2,"0.9829326225666419"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0","   Musculoskeletal Diseases"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4479651","RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA",2073,2,"1.0"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Otorhinolaryngologic Diseases"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Nervous System Diseases"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Eye Diseases"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Pathological Conditions, Signs and Symptoms"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Behavior and Behavior Mechanisms"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841","   Mental Disorders"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","   Otorhinolaryngologic Diseases"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","   Nervous System Diseases"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","   Eye Diseases"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","   Pathological Conditions, Signs and Symptoms"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605","   Mental Disorders"]
["C4084821","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",2070,2,"1.0"]
["C4225400","INTERSTITIAL LUNG AND LIVER DISEASE",2070,2,"1.0"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0","   Nervous System Diseases"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4305134","Fried syndrome",2067,2,"1.0"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0","   Respiratory Tract Diseases"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0","   Nervous System Diseases"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4015349","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",2065,2,"1.0"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Musculoskeletal Diseases"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Stomatognathic Diseases"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Respiratory Tract Diseases"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Nervous System Diseases"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3807521","AMYOTROPHIC LATERAL SCLEROSIS 21",2064,2,"1.0"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0","   Musculoskeletal Diseases"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0","   Nervous System Diseases"]
["C1968603","Osteopetrosis, Autosomal Recessive 5",2062,2,"1.0","   Musculoskeletal Diseases"]
["C0700323","Observation of Neuromuscular Block",2060,2,"0.6894349436942794"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501","   Musculoskeletal Diseases"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501","   Nervous System Diseases"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0028734","Nocturia",2058,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0342687","dopamine beta hydroxylase deficiency",2058,2,"1.0","   Nervous System Diseases"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017","   Cardiovascular Diseases"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017","   Hemic and Lymphatic Diseases"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017","   Skin and Connective Tissue Diseases"]
["C3809845","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",2056,2,"0.3516426861351214"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Musculoskeletal Diseases"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Nervous System Diseases"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Pathological Conditions, Signs and Symptoms"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Behavior and Behavior Mechanisms"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441","   Mental Disorders"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Musculoskeletal Diseases"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Nervous System Diseases"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Eye Diseases"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Cardiovascular Diseases"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407","   Immune System Diseases"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469","   Nervous System Diseases"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764","   Nervous System Diseases"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764","   Pathological Conditions, Signs and Symptoms"]
["C3553816","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",2053,2,"1.0"]
["C4521563","SPINOCEREBELLAR ATAXIA 44",2053,2,"1.0"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0","   Nervous System Diseases"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225361","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29",2050,2,"1.0"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0","   Nervous System Diseases"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280965","CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",2049,2,"1.0"]
["C3280036","MECKEL SYNDROME, TYPE 10",2048,2,"1.0"]
["C4539386","JOUBERT SYNDROME 34",2048,2,"1.0"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0","   Hemic and Lymphatic Diseases"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0","   Immune System Diseases"]
["C3552634","LYMPHOPROLIFERATIVE SYNDROME 1",2046,2,"1.0"]
["C0175696","Congenital cleft larynx and Opitz-Frias syndrome",2045,2,"0.999716883875141"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","   Musculoskeletal Diseases"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","   Stomatognathic Diseases"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","   Male Urogenital Diseases"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","   Female Urogenital Diseases and Pregnancy Complications"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263532","Leukonychia punctata",2043,2,"1.0"]
["C3276977","LEUKONYCHIA STRIATUS",2043,2,"1.0"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0","   Musculoskeletal Diseases"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0","   Cardiovascular Diseases"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0","   Skin and Connective Tissue Diseases"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0","   Cardiovascular Diseases"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0","   Cardiovascular Diseases"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4015261","POLYENDOCRINE-POLYNEUROPATHY SYNDROME",2038,2,"1.0"]
["C4539881","DEAFNESS, AUTOSOMAL DOMINANT 71",2038,2,"1.0"]
["C3836857","MECKEL SYNDROME, TYPE 8",2037,2,"1.0"]
["C4084841","JOUBERT SYNDROME 24",2037,2,"1.0"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0019693","HIV Infections",2033,2,"0.9449935927616423","   Immune System Diseases"]
["C4505456","HIV Coinfection",2033,2,"0.947367065095419","   Immune System Diseases"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0","   Nervous System Diseases"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4284594","BAND HETEROTOPIA",2032,2,"1.0"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918","   Nervous System Diseases"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741","   Nervous System Diseases"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","   Nervous System Diseases"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695","   Nervous System Diseases"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695","   Pathological Conditions, Signs and Symptoms"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695","   Mental Disorders"]
["C1291316","Deficiency of reductase",2021,2,"1.0"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0","   Digestive System Diseases"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0","   Stomatognathic Diseases"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0","   Otorhinolaryngologic Diseases"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0","   Nervous System Diseases"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4225321","ZIMMERMANN-LABAND SYNDROME 2",2018,2,"1.0"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294","   Musculoskeletal Diseases"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294","   Stomatognathic Diseases"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193","   Nervous System Diseases"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193","   Pathological Conditions, Signs and Symptoms"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193","   Behavior and Behavior Mechanisms"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193","   Mental Disorders"]
["C0342792","Succinyl-CoA:3-oxoacid CoA transferase deficiency",2016,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1291422","Deficiency of 3-oxoacid CoA-transferase",2016,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474","   Musculoskeletal Diseases"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196","   Musculoskeletal Diseases"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196","   Nervous System Diseases"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196","   Pathological Conditions, Signs and Symptoms"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0","   Nervous System Diseases"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0","   Eye Diseases"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151880","NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)",2012,2,"1.0"]
["C1858535","MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)",2011,2,"1.0"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0","   Musculoskeletal Diseases"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0","   Nervous System Diseases"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270857","Epilepsy, Reflex",2009,2,"0.9990926425026795","   Nervous System Diseases"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728","   Nutritional and Metabolic Diseases"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0","   Musculoskeletal Diseases"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0","   Nervous System Diseases"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3280644","LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",2008,2,"1.0"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","   Stomatognathic Diseases"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","   Nervous System Diseases"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","   Endocrine System Diseases"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047","   Pathological Conditions, Signs and Symptoms"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652","   Stomatognathic Diseases"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652","   Nervous System Diseases"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652","   Nutritional and Metabolic Diseases"]
["C0451669","Neuropathy in association with hereditary ataxia",2005,2,"1.0"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0","   Nervous System Diseases"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1291564","Deficiency of aromatic-L-amino-acid decarboxylase",2004,2,"1.0"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975","   Nervous System Diseases"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975","   Nutritional and Metabolic Diseases"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439","   Nervous System Diseases"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439","   Nutritional and Metabolic Diseases"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0","   Cardiovascular Diseases"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Nervous System Diseases"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Eye Diseases"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Cardiovascular Diseases"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0","   Mental Disorders"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","   Musculoskeletal Diseases"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","   Stomatognathic Diseases"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0549122","Relative afferent pupillary defect",1999,2,"0.9995212584625025"]
["C3541319","SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",1998,2,"1.0"]
["C3809651","INFANTILE LIVER FAILURE SYNDROME 2",1998,2,"1.0"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093","   Eye Diseases"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093","   Skin and Connective Tissue Diseases"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406","   Eye Diseases"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406","   Skin and Connective Tissue Diseases"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728","   Eye Diseases"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728","   Nutritional and Metabolic Diseases"]
["C1641852","Gelatinous droplike corneal dystrophy",1996,2,"0.9983711423594059"]
["C1862871","ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",1994,2,"0.8825437542729301"]
["C2745963","Kashin-Beck Disease",1994,2,"0.847930898647363","   Musculoskeletal Diseases"]
["C3281066","USHER SYNDROME, TYPE IIIB",1993,2,"1.0"]
["C4225265","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",1993,2,"1.0"]
["C0085635","Photopsia",1992,2,"1.0"]
["C4479481","RETINITIS PIGMENTOSA 78",1992,2,"1.0"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0","   Musculoskeletal Diseases"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0","   Skin and Connective Tissue Diseases"]
["C2931095","Osteogenesis imperfecta, type 7",1991,2,"1.0"]
["C4310779","SPERMATOGENIC FAILURE 15",1990,2,"1.0"]
["C4310782","PREMATURE OVARIAN FAILURE 12",1990,2,"1.0"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0","   Nervous System Diseases"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4275023","Spinocerebellar ataxia type 10",1989,2,"1.0"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074","   Nervous System Diseases"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310658","MYOCLONUS, INTRACTABLE, NEONATAL",1985,2,"0.9930484671440507"]
["C0029408","Degenerative polyarthritis",1984,2,"0.9148291528771603","   Musculoskeletal Diseases"]
["C0086743","Osteoarthrosis Deformans",1984,2,"0.9189154714954368","   Musculoskeletal Diseases"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544","   Skin and Connective Tissue Diseases"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983","   Nervous System Diseases"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983","   Chemically-Induced Disorders"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582","   Skin and Connective Tissue Diseases"]
["C3281192","INFANTILE CEREBELLAR-RETINAL DEGENERATION",1981,2,"1.0"]
["C4225384","OPTIC ATROPHY 9",1981,2,"1.0"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Musculoskeletal Diseases"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Stomatognathic Diseases"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Otorhinolaryngologic Diseases"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Nervous System Diseases"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3808166","MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT",1979,2,"1.0"]
["C0272173","Myelokathexis",1978,2,"0.9869468725933866"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995","   Skin and Connective Tissue Diseases"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995","   Immune System Diseases"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0","   Nervous System Diseases"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150808","RETINITIS PIGMENTOSA 55",1977,2,"1.0"]
["C4310675","ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",1975,2,"1.0"]
["C4316985","Cerebellar edema",1975,2,"1.0"]
["C4225177","SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1",1973,2,"1.0"]
["C4310736","MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",1973,2,"1.0"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238","   Cardiovascular Diseases"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238","   Hemic and Lymphatic Diseases"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238","   Skin and Connective Tissue Diseases"]
["C0809936","Branchio-skeleto-genital syndrome",1971,2,"1.0","   Musculoskeletal Diseases"]
["C0877521","Chronic synovitis",1971,2,"1.0"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232","   Nervous System Diseases"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232","   Nutritional and Metabolic Diseases"]
["C2931141","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency",1970,2,"0.993735939153861"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153","   Nutritional and Metabolic Diseases"]
["C3553645","MYASTHENIC SYNDROME, CONGENITAL, 13",1969,2,"0.9552197774138775"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0","   Nervous System Diseases"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0","   Nervous System Diseases"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3150899","PARKINSON DISEASE 5, AUTOSOMAL DOMINANT",1967,2,"1.0"]
["C3809665","SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",1967,2,"1.0"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Musculoskeletal Diseases"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Otorhinolaryngologic Diseases"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Nervous System Diseases"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Cardiovascular Diseases"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4310697","FRONTOMETAPHYSEAL DYSPLASIA 2",1966,2,"1.0"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0","   Nervous System Diseases"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0","   Nervous System Diseases"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","   Musculoskeletal Diseases"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","   Respiratory Tract Diseases"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","   Nervous System Diseases"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","   Cardiovascular Diseases"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847667","CARDIOMYOPATHY, DILATED, 1L",1963,2,"1.0","   Cardiovascular Diseases"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058","   Respiratory Tract Diseases"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058","   Occupational Diseases"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965","   Respiratory Tract Diseases"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965","   Occupational Diseases"]
["C3892050","DEAFNESS, AUTOSOMAL RECESSIVE 102",1960,2,"0.9805792872846669"]
["C4022756","Profound hearing impairment",1960,2,"0.9758431221748454"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288","   Musculoskeletal Diseases"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288","   Male Urogenital Diseases"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288","   Female Urogenital Diseases and Pregnancy Complications"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824","   Nutritional and Metabolic Diseases"]
["C0149696","Food intolerance (disorder)",1958,2,"0.9600138021889058","   Pathological Conditions, Signs and Symptoms"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418","   Nutritional and Metabolic Diseases"]
["C0023890","Liver Cirrhosis",1957,2,"0.8876806404745305","   Digestive System Diseases"]
["C0239946","Fibrosis, Liver",1957,2,"0.8920036166681832","   Digestive System Diseases"]
["C3553230","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",1956,2,"0.952300868513004"]
["C3809160","SHAHEEN SYNDROME",1956,2,"0.9517879856932137"]
["C0034951","Refractive Errors",1954,2,"0.6804215250225317","   Eye Diseases"]
["C1527310","Ametropia",1954,2,"0.5606393009725587","   Eye Diseases"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818","   Neoplasms"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818","   Hemic and Lymphatic Diseases"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818","   Skin and Connective Tissue Diseases"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818","   Immune System Diseases"]
["C3469542","FANCONI ANEMIA, COMPLEMENTATION GROUP P",1953,2,"0.45072110575490854"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274","   Musculoskeletal Diseases"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274","   Stomatognathic Diseases"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274","   Skin and Connective Tissue Diseases"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231","   Stomatognathic Diseases"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1824925","DEAFNESS, AUTOSOMAL RECESSIVE 70",1951,2,"0.960444629476515"]
["C3554129","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13",1951,2,"0.9597183910999514"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093","   Nutritional and Metabolic Diseases"]
["C4015597","MYASTHENIC SYNDROME, CONGENITAL, 14",1950,2,"0.9351499839718267"]
["C3550904","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36",1949,2,"0.9992390690722684"]
["C4317295","Congenital disorder of glycosylation type 1s",1949,2,"0.9992388540617094"]
["C0027612","Congenital, Hereditary, and Neonatal Diseases and Abnormalities",1947,2,"0.9986497212960793","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139","   Nutritional and Metabolic Diseases"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Musculoskeletal Diseases"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Stomatognathic Diseases"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Nervous System Diseases"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0","   Mental Disorders"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Musculoskeletal Diseases"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Stomatognathic Diseases"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Nervous System Diseases"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Behavior and Behavior Mechanisms"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0","   Mental Disorders"]
["C0006111","Brain Diseases",1945,2,"0.8224639816105657","   Nervous System Diseases"]
["C0085584","Encephalopathies",1945,2,"0.8326211128565733","   Nervous System Diseases"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0","   Nervous System Diseases"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0","   Nervous System Diseases"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1866257","Peroxisome Biogenesis Disorder, Complementation Group K",1938,2,"1.0"]
["C3554004","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)",1938,2,"1.0"]
["C4083048","SPONDYLOCOSTAL DYSOSTOSIS 5",1934,2,"0.8079663270928997"]
["C4274761","Autosomal dominant spondylocostal dysostosis",1934,2,"0.8335519858943492"]
["C1852521","Spondylocostal Dysostosis 4, Autosomal Dominant",1932,2,"0.380214281887591"]
["C3150942","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",1932,2,"0.3203474161409904"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0","   Nervous System Diseases"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0","   Nutritional and Metabolic Diseases"]
["C4015371","MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT",1930,2,"1.0"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657","   Musculoskeletal Diseases"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657","   Nervous System Diseases"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438","   Musculoskeletal Diseases"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438","   Nervous System Diseases"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","   Musculoskeletal Diseases"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","   Stomatognathic Diseases"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","   Eye Diseases"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","   Skin and Connective Tissue Diseases"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","   Immune System Diseases"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","   Musculoskeletal Diseases"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","   Stomatognathic Diseases"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","   Eye Diseases"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","   Skin and Connective Tissue Diseases"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","   Immune System Diseases"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856","   Nervous System Diseases"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856","   Nutritional and Metabolic Diseases"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412","   Nervous System Diseases"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412","   Nutritional and Metabolic Diseases"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885","   Nervous System Diseases"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885","   Nutritional and Metabolic Diseases"]
["C4020911","Herpetiform corneal ulceration",1923,2,"0.7744797493416075"]
["C3150705","FOXG1 syndrome",1921,2,"1.0"]
["C4305240","14q12 microdeletion syndrome",1921,2,"1.0"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546","   Musculoskeletal Diseases"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546","   Eye Diseases"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546","   Endocrine System Diseases"]
["C3554349","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",1920,2,"0.4019411527173876"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859","   Infections"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859","   Male Urogenital Diseases"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859","   Female Urogenital Diseases and Pregnancy Complications"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844","   Nervous System Diseases"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844","   Mental Disorders"]
["C1969644","Cataract, Cortical, Juvenile-Onset",1918,2,"1.0","   Eye Diseases"]
["C3808107","CATARACT 33, MULTIPLE TYPES",1918,2,"1.0"]
["C0016037","Fibrodysplasia Ossificans Progressiva",1917,2,"0.937027148580973","   Musculoskeletal Diseases"]
["C0027122","Myositis Ossificans",1917,2,"0.9541993806119232","   Musculoskeletal Diseases"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556","   Otorhinolaryngologic Diseases"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556","   Nervous System Diseases"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556","   Pathological Conditions, Signs and Symptoms"]
["C3280556","PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",1916,2,"0.9486011868150879"]
["C3554168","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14",1915,2,"0.9594478719131199"]
["C4310750","SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",1915,2,"0.9595564828919343"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272","   Eye Diseases"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024779","Marginal corneal dystrophy",1914,2,"0.9997988212639636"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0","   Nervous System Diseases"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225281","RETINITIS PIGMENTOSA 74",1912,2,"1.0"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0","   Eye Diseases"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151107","RETINITIS PIGMENTOSA 40 (disorder)",1911,2,"1.0"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0","   Nervous System Diseases"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150715","RETINITIS PIGMENTOSA 51",1910,2,"1.0"]
["C1855305","Ter Haar syndrome",1908,2,"1.0","   Musculoskeletal Diseases"]
["C1855305","Ter Haar syndrome",1908,2,"1.0","   Cardiovascular Diseases"]
["C1855305","Ter Haar syndrome",1908,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855305","Ter Haar syndrome",1908,2,"1.0","   Mental Disorders"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0","   Musculoskeletal Diseases"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0","   Cardiovascular Diseases"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0","   Musculoskeletal Diseases"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0","   Skin and Connective Tissue Diseases"]
["C3151781","CK SYNDROME",1904,2,"1.0"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202","   Musculoskeletal Diseases"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202","   Immune System Diseases"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676","   Musculoskeletal Diseases"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676","   Immune System Diseases"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0","   Nervous System Diseases"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4225329","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25",1899,2,"1.0"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0","   Eye Diseases"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225345","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",1896,2,"1.0"]
["C0221237","Angular cheilitis",1894,2,"1.0"]
["C4225381","PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",1894,2,"1.0"]
["C1272352","Deficiency of vitamin D3",1891,2,"0.4400455048729931"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966","   Nutritional and Metabolic Diseases"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966","   Immune System Diseases"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0342728","3-Methylglutaconic aciduria type 1",1889,2,"1.0"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0","   Nervous System Diseases"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0","   Nervous System Diseases"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521","   Otorhinolaryngologic Diseases"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521","   Nervous System Diseases"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521","   Male Urogenital Diseases"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521","   Pathological Conditions, Signs and Symptoms"]
["C2751811","Spermatogenic Failure 7",1887,2,"0.4389480052211166","   Male Urogenital Diseases"]
["C4225337","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33",1886,2,"1.0"]
["C4225343","MENTAL RETARDATION, AUTOSOMAL DOMINANT 38",1886,2,"1.0"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0","   Eye Diseases"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0","   Musculoskeletal Diseases"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0","   Eye Diseases"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0085399","Ehrlichiosis",1883,2,"1.0","   Infections"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0","   Eye Diseases"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1319860","Sendai virus infection",1882,2,"0.5513291578680211"]
["C1558931","Flu-Like Syndrome Adverse Event",1882,2,"0.6429747773225882"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0","   Musculoskeletal Diseases"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4274732","Ischio-vertebral syndrome",1878,2,"1.0"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901","   Stomatognathic Diseases"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346","   Musculoskeletal Diseases"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346","   Cardiovascular Diseases"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346","   Skin and Connective Tissue Diseases"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594","   Male Urogenital Diseases"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594","   Female Urogenital Diseases and Pregnancy Complications"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153","   Male Urogenital Diseases"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153","   Female Urogenital Diseases and Pregnancy Complications"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692","   Cardiovascular Diseases"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692","   Pathological Conditions, Signs and Symptoms"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155","   Cardiovascular Diseases"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155","   Pathological Conditions, Signs and Symptoms"]
["C3280452","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",1873,2,"1.0"]
["C4015519","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",1873,2,"1.0"]
["C0398564","Deficiency of adenylate kinase",1870,2,"1.0"]
["C2675459","Adenylate Kinase Deficiency, Hemolytic Anemia Due To",1870,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0","   Nervous System Diseases"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0","   Mental Disorders"]
["C1861101","THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT",1865,2,"1.0","   Endocrine System Diseases"]
["C0020097","HTLV-I Infections",1864,2,"0.5241517128506971","   Immune System Diseases"]
["C1260874","Infective dermatitis",1864,2,"0.6616355314469539"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0","   Nervous System Diseases"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0","   Nervous System Diseases"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238","   Otorhinolaryngologic Diseases"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238","   Nervous System Diseases"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238","   Pathological Conditions, Signs and Symptoms"]
["C2732267","Auditory neuropathy spectrum disorder",1862,2,"0.902617382239077"]
["C1704436","Peripheral Arterial Diseases",1860,2,"0.38424296801974117","   Cardiovascular Diseases"]
["C4304539","20p12.3 microdeletion syndrome",1860,2,"0.3390729342062795"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517","   Male Urogenital Diseases"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517","   Female Urogenital Diseases and Pregnancy Complications"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141","   Male Urogenital Diseases"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141","   Female Urogenital Diseases and Pregnancy Complications"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846","   Male Urogenital Diseases"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846","   Female Urogenital Diseases and Pregnancy Complications"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663","   Male Urogenital Diseases"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663","   Female Urogenital Diseases and Pregnancy Complications"]
["C3809824","PARKINSON DISEASE 20, EARLY-ONSET",1849,2,"1.0"]
["C4479313","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53",1849,2,"1.0"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0","   Nervous System Diseases"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0","   Mental Disorders"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0","   Nervous System Diseases"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0","   Mental Disorders"]
["C3151056","SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",1843,2,"0.8432220061304524"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242","   Nervous System Diseases"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242","   Pathological Conditions, Signs and Symptoms"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0","   Musculoskeletal Diseases"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0","   Nervous System Diseases"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993","   Nervous System Diseases"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993","   Chemically-Induced Disorders"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993","   Nervous System Diseases"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993","   Pathological Conditions, Signs and Symptoms"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993","   Chemically-Induced Disorders"]
["C0268464","Transient hyperphenylalaninemia",1839,2,"0.3363570533779135"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402","   Nervous System Diseases"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402","   Nutritional and Metabolic Diseases"]
["C3151355","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A",1836,2,"1.0"]
["C3151356","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION",1836,2,"1.0"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0","   Musculoskeletal Diseases"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0","   Nervous System Diseases"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151461","LISSENCEPHALY 4",1835,2,"1.0"]
["C1857342","Deafness, Cochlear, with Myopia and Intellectual Impairment",1834,2,"1.0"]
["C3806275","DEAFNESS AND MYOPIA",1834,2,"1.0"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934","   Nervous System Diseases"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934","   Cardiovascular Diseases"]
["C0155728","Other specified transient cerebral ischemias",1832,2,"0.9204860580043087"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138","   Nutritional and Metabolic Diseases"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","   Male Urogenital Diseases"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","   Nutritional and Metabolic Diseases"]
["C2675186","LEBER CONGENITAL AMAUROSIS 13",1828,2,"0.9844482350661028","   Eye Diseases"]
["C3150208","RETINITIS PIGMENTOSA 53",1828,2,"0.9844174981586188"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889","   Nervous System Diseases"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","   Nervous System Diseases"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","   Pathological Conditions, Signs and Symptoms"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","   Behavior and Behavior Mechanisms"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616","   Mental Disorders"]
["C0155567","Rheumatic aortic stenosis",1824,2,"0.5919890323990766"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614","   Nutritional and Metabolic Diseases"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299","   Male Urogenital Diseases"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299","   Female Urogenital Diseases and Pregnancy Complications"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299","   Endocrine System Diseases"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741","   Male Urogenital Diseases"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741","   Female Urogenital Diseases and Pregnancy Complications"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741","   Endocrine System Diseases"]
["C0400966","Non-alcoholic Fatty Liver Disease",1822,2,"0.9651929936931013","   Digestive System Diseases"]
["C3241937","Nonalcoholic Steatohepatitis",1822,2,"0.966623355139347","   Digestive System Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Otorhinolaryngologic Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Nervous System Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Eye Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Male Urogenital Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Female Urogenital Diseases and Pregnancy Complications"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Nutritional and Metabolic Diseases"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716","   Endocrine System Diseases"]
["C0348932","Other specified diabetes mellitus with unspecified complications",1818,2,"0.8854110834335897"]
["C3532239","Mitochondrial cardiomyopathy",1816,2,"1.0"]
["C4310690","MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)",1816,2,"1.0"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988","   Musculoskeletal Diseases"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988","   Nervous System Diseases"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165","   Musculoskeletal Diseases"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165","   Stomatognathic Diseases"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0","   Nervous System Diseases"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714897","SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",1813,2,"1.0"]
["C3539920","ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1812,2,"0.9971926212392787"]
["C3541517","ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",1812,2,"0.9973417841950787"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985","   Skin and Connective Tissue Diseases"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246","   Stomatognathic Diseases"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3554687","IL21R IMMUNODEFICIENCY",1808,2,"1.0"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0"]
["C3809356","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",1807,2,"1.0"]
["C3809369","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2",1807,2,"1.0"]
["C3275508","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",1805,2,"1.0"]
["C3806670","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1",1805,2,"1.0"]
["C0018824","Heart valve disease",1800,2,"0.468320665397619","   Cardiovascular Diseases"]
["C0263628","Tumoral calcinosis",1800,2,"0.48046789900471765","   Nutritional and Metabolic Diseases"]
["C0599973","Waardenburg Anophthalmia Syndrome",1799,2,"0.9351312529556339","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709"]
["C0559469","Allergy to eggs",1798,2,"1.0","   Immune System Diseases"]
["C4015316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",1798,2,"1.0"]
["C3501647","Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",1797,2,"1.0","   Hemic and Lymphatic Diseases"]
["C4025283","Compensated hemolytic anemia",1797,2,"1.0"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413","   Male Urogenital Diseases"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413","   Female Urogenital Diseases and Pregnancy Complications"]
["C2316810","Chronic kidney disease stage 5",1794,2,"0.5745825559846915"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937","   Nervous System Diseases"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937","   Cardiovascular Diseases"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","   Nervous System Diseases"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","   Cardiovascular Diseases"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431","   Respiratory Tract Diseases"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431","   Immune System Diseases"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431","   Chemically-Induced Disorders"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916","   Respiratory Tract Diseases"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916","   Otorhinolaryngologic Diseases"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916","   Immune System Diseases"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916","   Pathological Conditions, Signs and Symptoms"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916","   Chemically-Induced Disorders"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747","   Skin and Connective Tissue Diseases"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747","   Immune System Diseases"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747","   Chemically-Induced Disorders"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573","   Skin and Connective Tissue Diseases"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573","   Immune System Diseases"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573","   Chemically-Induced Disorders"]
["C0035305","Retinal Detachment",1787,2,"0.6122910704788862","   Eye Diseases"]
["C0339546","Retinal Pigment Epithelial Detachment",1787,2,"0.6155897910275362","   Eye Diseases"]
["C0494559","Diseases of inner ear",1786,2,"1.0"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0","   Nervous System Diseases"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","   Nervous System Diseases"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","   Skin and Connective Tissue Diseases"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","   Nutritional and Metabolic Diseases"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616","   Pathological Conditions, Signs and Symptoms"]
["C3550903","CORNELIA DE LANGE SYNDROME 5",1785,2,"0.29742385892933076"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","   Eye Diseases"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","   Skin and Connective Tissue Diseases"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","   Nutritional and Metabolic Diseases"]
["C3151752","NYSTAGMUS 6, CONGENITAL, X-LINKED",1782,2,"0.9779609451758826"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","   Musculoskeletal Diseases"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","   Nervous System Diseases"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","   Nutritional and Metabolic Diseases"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402","   Musculoskeletal Diseases"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402","   Nervous System Diseases"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402","   Nutritional and Metabolic Diseases"]
["C1848651","Al Awadi syndrome",1778,2,"1.0","   Musculoskeletal Diseases"]
["C1848651","Al Awadi syndrome",1778,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848651","Al Awadi syndrome",1778,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0","   Musculoskeletal Diseases"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0","   Eye Diseases"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0","   Eye Diseases"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0","   Nervous System Diseases"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0","   Eye Diseases"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1867923","Posterior column ataxia",1776,2,"1.0","   Nervous System Diseases"]
["C1867923","Posterior column ataxia",1776,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867923","Posterior column ataxia",1776,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0432328","Xeroderma pigmentosum, variant form",1773,2,"1.0"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0","   Neoplasms"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0152915","Acute miliary tuberculosis",1772,2,"1.0"]
["C4013949","IMMUNODEFICIENCY 30",1772,2,"1.0"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0","   Musculoskeletal Diseases"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0","   Nutritional and Metabolic Diseases"]
["C4284088","MIRAGE SYNDROME",1770,2,"1.0"]
["C0021831","Intestinal Diseases",1769,2,"0.16045635888817433","   Digestive System Diseases"]
["C0041582","Ulcer",1769,2,"0.30176868286225256","   Pathological Conditions, Signs and Symptoms"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149","   Nervous System Diseases"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149","   Nutritional and Metabolic Diseases"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853","   Nervous System Diseases"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853","   Nutritional and Metabolic Diseases"]
["C0267557","Secretory diarrhea",1766,2,"0.5275118889809377"]
["C2678346","Diarrhea 3, Secretory Sodium, Congenital, Syndromic",1766,2,"0.6741573365128385"]
["C0013363","Dysautonomia",1764,2,"0.6671654799032101","   Nervous System Diseases"]
["C1145628","Autonomic nervous system disorders",1764,2,"0.3421901059201606","   Nervous System Diseases"]
["C0009782","Connective Tissue Diseases",1763,2,"0.5214293159438249","   Skin and Connective Tissue Diseases"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129","   Musculoskeletal Diseases"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129","   Cardiovascular Diseases"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129","   Hemic and Lymphatic Diseases"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129","   Skin and Connective Tissue Diseases"]
["C1860405","Snowflake vitreoretinal degeneration",1762,2,"0.9991353388790598","   Eye Diseases"]
["C3280062","LEBER CONGENITAL AMAUROSIS 16",1762,2,"0.9991355169469426"]
["C0021843","Intestinal Obstruction",1759,2,"0.4246850904909229","   Digestive System Diseases"]
["C1859047","CYSTIC FIBROSIS MODIFIER 1",1759,2,"0.5371449152882891"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344","   Nutritional and Metabolic Diseases"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971","   Nutritional and Metabolic Diseases"]
["C0005806","Blood Group Incompatibility",1757,2,"0.8117784679370667"]
["C0860218","ABO incompatibility",1757,2,"0.800208731510822"]
["C0010474","Curling Ulcer",1756,2,"0.9221385845809931","   Digestive System Diseases"]
["C0013295","Duodenal Ulcer",1756,2,"0.9243479921850533","   Digestive System Diseases"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128","   Digestive System Diseases"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128","   Skin and Connective Tissue Diseases"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128","   Nutritional and Metabolic Diseases"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483","   Digestive System Diseases"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483","   Skin and Connective Tissue Diseases"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483","   Nutritional and Metabolic Diseases"]
["C0026650","Movement Disorders",1754,2,"0.8255199927423146","   Nervous System Diseases"]
["C0266487","Etat Marbre",1754,2,"0.8114893949278197","   Nervous System Diseases"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886","   Eye Diseases"]
["C2930898","Benign essential blepharospasm",1749,2,"0.6380295298670042","   Eye Diseases"]
["C3150801","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",1744,2,"0.9405416247051087"]
["C3539506","SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",1744,2,"0.9400269311959818"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0","   Musculoskeletal Diseases"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0","   Nervous System Diseases"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1409412","Periostosis",1741,2,"1.0"]
["C3280800","HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",1741,2,"1.0"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622","   Musculoskeletal Diseases"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645","   Musculoskeletal Diseases"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099","   Nervous System Diseases"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099","   Pathological Conditions, Signs and Symptoms"]
["C4539985","CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",1738,2,"0.9881727607209994"]
["C0235222","Diastolic hypertension",1737,2,"0.324754344661128"]
["C1837739","Hypertension, Diastolic, Resistance to",1737,2,"0.5843464757410313","   Cardiovascular Diseases"]
["C0393933","Pseudomyopathic myasthenia",1734,2,"1.0"]
["C3552335","MYASTHENIC SYNDROME, CONGENITAL, 12",1734,2,"1.0"]
["C0014867","Esophageal Varices",1733,2,"0.6350096126274755","   Digestive System Diseases"]
["C0017145","Gastric Varix",1733,2,"0.6760817366349227","   Digestive System Diseases"]
["C0149821","ACUTE ALCOHOL WITHDRAWAL",1731,2,"0.6741994823480865"]
["C3554691","HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2",1731,2,"0.6653230555327193"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273","   Otorhinolaryngologic Diseases"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273","   Nervous System Diseases"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273","   Pathological Conditions, Signs and Symptoms"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","   Otorhinolaryngologic Diseases"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","   Nervous System Diseases"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","   Pathological Conditions, Signs and Symptoms"]
["C0039128","Syphilis",1727,2,"0.375610952098552","   Infections"]
["C0039128","Syphilis",1727,2,"0.375610952098552","   Male Urogenital Diseases"]
["C0039128","Syphilis",1727,2,"0.375610952098552","   Female Urogenital Diseases and Pregnancy Complications"]
["C4310772","NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",1727,2,"0.32760471436713395"]
["C1969639","Cardiomyopathy, Dilated, 1w",1725,2,"1.0","   Cardiovascular Diseases"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0","   Cardiovascular Diseases"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0948441","Venoocclusive disease",1724,2,"0.2574309206206856"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532","   Digestive System Diseases"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532","   Cardiovascular Diseases"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532","   Immune System Diseases"]
["C0270921","Axonal neuropathy",1720,2,"0.9135486148895609"]
["C1263857","Peripheral axonal neuropathy",1720,2,"0.9132666940481179"]
["C3810175","SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",1719,2,"0.9962600971483832"]
["C4225342","RETINITIS PIGMENTOSA 71",1719,2,"0.9962491437281913"]
["C0265245","Nager syndrome",1718,2,"1.0","   Musculoskeletal Diseases"]
["C0265245","Nager syndrome",1718,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0","   Musculoskeletal Diseases"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587","   Nervous System Diseases"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587","   Immune System Diseases"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421","   Nervous System Diseases"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421","   Immune System Diseases"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712","   Cardiovascular Diseases"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2752072","Cardiomyopathy, Dilated, 1BB",1714,2,"0.9959411723834988","   Cardiovascular Diseases"]
["C0162830","Dermatitis, Phototoxic",1711,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1527358","Phototoxicity",1711,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011","   Nutritional and Metabolic Diseases"]
["C1838656","Macrocytosis, Familial",1704,2,"1.0","   Hemic and Lymphatic Diseases"]
["C4015537","THROMBOCYTOPENIA 5",1704,2,"1.0"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0","   Nervous System Diseases"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0","   Nervous System Diseases"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","   Eye Diseases"]
["C0339063","Cellulitis of eyelid",1695,2,"0.9999999999999978"]
["C0238044","Concentric hypertrophic cardiomyopathy",1693,2,"0.5837644351220689"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658","   Musculoskeletal Diseases"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658","   Nervous System Diseases"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658","   Nutritional and Metabolic Diseases"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658","   Pathological Conditions, Signs and Symptoms"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0","   Nervous System Diseases"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0","   Nervous System Diseases"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0","   Nutritional and Metabolic Diseases"]
["C4225313","BETHLEM MYOPATHY 2",1690,2,"1.0"]
["C4225314","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2",1690,2,"1.0"]
["C0948245","Cytokine release syndrome",1689,2,"1.0"]
["C3150738","Antibody Deficiency due to Defect in CD19",1689,2,"1.0","   Immune System Diseases"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988","   Nervous System Diseases"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988","   Nutritional and Metabolic Diseases"]
["C4024972","Symmetrical progressive peripheral demyelination",1687,2,"0.9893212140445037"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106","   Respiratory Tract Diseases"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106","   Eye Diseases"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0","   Nervous System Diseases"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0","   Nervous System Diseases"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748055","Hypoinsulinaemia (disorder)",1682,2,"1.0"]
["C4015710","TENORIO SYNDROME",1682,2,"1.0"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0","   Eye Diseases"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0","   Eye Diseases"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1840284","LEBER CONGENITAL AMAUROSIS 11",1679,2,"1.0","   Eye Diseases"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0","   Eye Diseases"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081","   Nervous System Diseases"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081","   Nutritional and Metabolic Diseases"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081","   Mental Disorders"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526","   Nervous System Diseases"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526","   Nutritional and Metabolic Diseases"]
["C0342770","Fumarase deficiency",1677,2,"1.0","   Nervous System Diseases"]
["C0342770","Fumarase deficiency",1677,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342770","Fumarase deficiency",1677,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0342770","Fumarase deficiency",1677,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0342770","Fumarase deficiency",1677,2,"1.0","   Behavior and Behavior Mechanisms"]
["C2936826","Fumaric aciduria",1677,2,"1.0","   Nervous System Diseases"]
["C2936826","Fumaric aciduria",1677,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936826","Fumaric aciduria",1677,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2936826","Fumaric aciduria",1677,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2936826","Fumaric aciduria",1677,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1533587","Hydroxymethylglutaric aciduria",1674,2,"1.0"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","   Male Urogenital Diseases"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","   Female Urogenital Diseases and Pregnancy Complications"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","   Behavior and Behavior Mechanisms"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","   Mental Disorders"]
["C3554520","UROFACIAL SYNDROME 2",1671,2,"0.4159675632417093"]
["C1866259","Peroxisome Biogenesis Disorder, Complementation Group 13",1670,2,"0.7716336185757453"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262","   Nutritional and Metabolic Diseases"]
["C3554000","PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)",1669,2,"0.9012942939516393"]
["C3554001","PEROXISOME BIOGENESIS DISORDER 11B",1669,2,"0.8016209522598845"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661","   Nervous System Diseases"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661","   Hemic and Lymphatic Diseases"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661","   Pathological Conditions, Signs and Symptoms"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661","   Behavior and Behavior Mechanisms"]
["C4275170","Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1",1668,2,"0.9167319571695101"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0","   Cardiovascular Diseases"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310824","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",1666,2,"1.0"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","   Male Urogenital Diseases"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807","   Male Urogenital Diseases"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807","   Female Urogenital Diseases and Pregnancy Complications"]
["C1858679","CATARACT, AUTOSOMAL DOMINANT",1658,2,"0.9880133262157748","   Eye Diseases"]
["C3888098","Cataract, Autosomal Recessive Congenital 1",1658,2,"0.98816940786915","   Eye Diseases"]
["C0342778","Ubiquinone dehydrogenase deficiency",1655,2,"0.8598979150097114"]
["C1852372","MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)",1655,2,"0.8806601599968179","   Nutritional and Metabolic Diseases"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366","   Skin and Connective Tissue Diseases"]
["C3554127","ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",1654,2,"0.5632680307570415"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","   Cardiovascular Diseases"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","   Hemic and Lymphatic Diseases"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","   Immune System Diseases"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759","   Digestive System Diseases"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759","   Hemic and Lymphatic Diseases"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759","   Immune System Diseases"]
["C0748140","Multiple pulmonary infections",1650,2,"0.9706120916814711"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891"]
["C0022638","Ketosis",1647,2,"0.9934333057638904","   Nutritional and Metabolic Diseases"]
["C0235430","Ketonemia",1647,2,"0.9934126622468727","   Nutritional and Metabolic Diseases"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508","   Nutritional and Metabolic Diseases"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674","   Nutritional and Metabolic Diseases"]
["C0221005","Mauriac\\'s syndrome",1645,2,"0.8881871104799041"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086","   Nutritional and Metabolic Diseases"]
["C3150754","GLYCOGEN STORAGE DISEASE XV",1643,2,"1.0"]
["C4015452","POLYGLUCOSAN BODY MYOPATHY 2",1643,2,"1.0"]
["C0008370","Cholestasis",1641,2,"0.5438031918208762","   Digestive System Diseases"]
["C1112213","Cholestasis in newborn",1641,2,"0.4534190889884303"]
["C0035869","Rotavirus Infections",1637,2,"0.2095573791608353"]
["C0267446","Acute gastroenteritis",1637,2,"0.42568256794379544"]
["C0268152","Classical galactosemia, homozygous Duarte-type",1636,2,"1.0"]
["C3278146","GALACTOSEMIA, DUARTE VARIANT",1636,2,"1.0"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687","   Cardiovascular Diseases"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687","   Hemic and Lymphatic Diseases"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687","   Skin and Connective Tissue Diseases"]
["C3150618","Maturity-onset diabetes of the young, type 11",1628,2,"0.32880966290534697"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","   Infections"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","   Musculoskeletal Diseases"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161","   Infections"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161","   Musculoskeletal Diseases"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161","   Hemic and Lymphatic Diseases"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934","   Hemic and Lymphatic Diseases"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934","   Immune System Diseases"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0","   Musculoskeletal Diseases"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3152083","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",1624,2,"1.0"]
["C1845408","Contiguous Abcd1-Dxs1375e Deletion Syndrome",1623,2,"0.8377425196350115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3806634","DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",1623,2,"0.8860174567657735"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","   Nervous System Diseases"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","   Nutritional and Metabolic Diseases"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","   Endocrine System Diseases"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","   Nervous System Diseases"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","   Nutritional and Metabolic Diseases"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","   Endocrine System Diseases"]
["C0034069","Pulmonary Fibrosis",1621,2,"0.8183503591523228","   Respiratory Tract Diseases"]
["C0085786","Hamman-Rich syndrome",1621,2,"0.7686256632017731","   Respiratory Tract Diseases"]
["C0241984","Honeycomb lung",1620,2,"0.878243287721025"]
["C1800706","Idiopathic Pulmonary Fibrosis",1620,2,"0.8686501159010562","   Respiratory Tract Diseases"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803","   Nervous System Diseases"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577","   Nervous System Diseases"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Nervous System Diseases"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Nutritional and Metabolic Diseases"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Pathological Conditions, Signs and Symptoms"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Behavior and Behavior Mechanisms"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463","   Mental Disorders"]
["C3553637","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",1617,2,"0.4448050821973686"]
["C0272242","Complement deficiency disease",1616,2,"0.05908131845707539"]
["C1864694","Complement Component 7 Deficiency",1616,2,"0.3791243296303916","   Immune System Diseases"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456","   Male Urogenital Diseases"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456","   Female Urogenital Diseases and Pregnancy Complications"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456","   Hemic and Lymphatic Diseases"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456","   Pathological Conditions, Signs and Symptoms"]
["C3872560","Acute vascular graft rejection",1614,2,"0.9995880480031659"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541","   Neoplasms"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541","   Female Urogenital Diseases and Pregnancy Complications"]
["C3463897","HYDATIDIFORM MOLE, RECURRENT, 1",1613,2,"0.737995914660835"]
["C3502073","Woolly Hair, Autosomal Recessive",1611,2,"0.9824197758040908","   Skin and Connective Tissue Diseases"]
["C4225214","WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",1611,2,"0.9839865392557181"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881","   Eye Diseases"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732","   Eye Diseases"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0001125","Acidosis, Lactic",1608,2,"0.164081161727295","   Nutritional and Metabolic Diseases"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705","   Nutritional and Metabolic Diseases"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","   Respiratory Tract Diseases"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","   Otorhinolaryngologic Diseases"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","   Nervous System Diseases"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","   Pathological Conditions, Signs and Symptoms"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293","   Respiratory Tract Diseases"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293","   Otorhinolaryngologic Diseases"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293","   Nervous System Diseases"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293","   Pathological Conditions, Signs and Symptoms"]
["C3553358","COENZYME Q10 DEFICIENCY, PRIMARY, 3",1602,2,"0.37791205537038886"]
["C3553374","COENZYME Q10 DEFICIENCY, PRIMARY, 5",1602,2,"0.3554669543959837"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542","   Nervous System Diseases"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542","   Cardiovascular Diseases"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542","   Mental Disorders"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592","   Nervous System Diseases"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592","   Cardiovascular Diseases"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592","   Mental Disorders"]
["C1861106","Thyrotropin-Releasing Hormone Resistance, Generalized",1589,2,"1.0","   Endocrine System Diseases"]
["C4511136","Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency",1589,2,"1.0"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603","   Musculoskeletal Diseases"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603","   Endocrine System Diseases"]
["C4082174","Thyrotropin deficiency, isolated",1588,2,"0.9986728115370451","   Endocrine System Diseases"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165","   Neoplasms"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165","   Nutritional and Metabolic Diseases"]
["C4280575","Progressive brain disease",1586,2,"0.09162557557979803"]
["C3151188","NEPHRONOPHTHISIS 9",1583,2,"1.0"]
["C3809434","RENAL-HEPATIC-PANCREATIC DYSPLASIA 2",1583,2,"1.0"]
["C3554235","JOUBERT SYNDROME 20",1580,2,"1.0"]
["C3809352","MECKEL SYNDROME, TYPE 11",1580,2,"1.0"]
["C3539071","NEPHRONOPHTHISIS 14",1579,2,"1.0"]
["C3553846","JOUBERT SYNDROME 19",1579,2,"1.0"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308","   Nervous System Diseases"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308","   Nutritional and Metabolic Diseases"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695","   Nervous System Diseases"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695","   Female Urogenital Diseases and Pregnancy Complications"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695","   Nutritional and Metabolic Diseases"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0","   Nervous System Diseases"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0","   Eye Diseases"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225424","OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY",1573,2,"1.0"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0","   Nervous System Diseases"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0","   Male Urogenital Diseases"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C4015555","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9",1572,2,"1.0"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Musculoskeletal Diseases"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Nervous System Diseases"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Male Urogenital Diseases"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0","   Mental Disorders"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Musculoskeletal Diseases"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Nervous System Diseases"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Eye Diseases"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Cardiovascular Diseases"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Endocrine System Diseases"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1863557","Young Simpson syndrome",1571,2,"1.0","   Mental Disorders"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472","   Eye Diseases"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472","   Male Urogenital Diseases"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317","   Male Urogenital Diseases"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317","   Female Urogenital Diseases and Pregnancy Complications"]
["C0220687","KBG syndrome",1565,2,"1.0","   Musculoskeletal Diseases"]
["C0220687","KBG syndrome",1565,2,"1.0","   Stomatognathic Diseases"]
["C0220687","KBG syndrome",1565,2,"1.0","   Nervous System Diseases"]
["C0220687","KBG syndrome",1565,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220687","KBG syndrome",1565,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0220687","KBG syndrome",1565,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0220687","KBG syndrome",1565,2,"1.0","   Mental Disorders"]
["C4304594","16q24.3 microdeletion syndrome",1565,2,"1.0"]
["C0271907","Acquired aplastic anemia",1564,2,"0.2741952790412705"]
["C0744855","hepatitis immune",1564,2,"0.3134045287442611"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184","   Musculoskeletal Diseases"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184","   Nervous System Diseases"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184","   Pathological Conditions, Signs and Symptoms"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617","   Neoplasms"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617","   Cardiovascular Diseases"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123","   Cardiovascular Diseases"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123","   Skin and Connective Tissue Diseases"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123","   Endocrine System Diseases"]
["C3809536","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS",1560,2,"0.4825095762737312"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118","   Nutritional and Metabolic Diseases"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671","   Nutritional and Metabolic Diseases"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","   Nervous System Diseases"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","   Eye Diseases"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","   Nutritional and Metabolic Diseases"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379","   Pathological Conditions, Signs and Symptoms"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911","   Nervous System Diseases"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911","   Eye Diseases"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0","   Eye Diseases"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310742","COLD-INDUCED SWEATING SYNDROME 3",1553,2,"1.0"]
["C0242994","Hantavirus Infections",1550,2,"0.3457132766276379"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","   Eye Diseases"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","   Hemic and Lymphatic Diseases"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","   Skin and Connective Tissue Diseases"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289","   Nutritional and Metabolic Diseases"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0","   Nervous System Diseases"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280220","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",1548,2,"1.0"]
["C2675188","Kallmann Syndrome 6",1547,2,"1.0"]
["C3552574","HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA",1547,2,"1.0"]
["C1857720","KALLMANN SYNDROME 4 (disorder)",1546,2,"1.0"]
["C3552343","HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA",1546,2,"1.0"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0","   Eye Diseases"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888124","CATARACT 17, MULTIPLE TYPES",1545,2,"1.0"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0","   Stomatognathic Diseases"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0","   Eye Diseases"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0","   Eye Diseases"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023240","Legionellosis",1541,2,"1.0","   Infections"]
["C0023240","Legionellosis",1541,2,"1.0","   Respiratory Tract Diseases"]
["C3809001","CATARACT 15, MULTIPLE TYPES",1541,2,"1.0"]
["C0392557","Nuclear cataract",1539,2,"0.9728213294750262"]
["C1112705","Nuclear non-senile cataract",1539,2,"0.9730895139831194"]
["C1861828","Cataract, Zonular Pulverulent 1",1538,2,"0.9995307914643872","   Eye Diseases"]
["C1866984","Sclerocornea, Autosomal Dominant",1538,2,"0.9995339311877735","   Eye Diseases"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0","   Male Urogenital Diseases"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0","   Endocrine System Diseases"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0","   Male Urogenital Diseases"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0","   Endocrine System Diseases"]
["C3151402","CANDIDIASIS, FAMILIAL, 5",1535,2,"1.0"]
["C4310803","IMMUNODEFICIENCY 51",1535,2,"1.0"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703","   Infections"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703","   Skin and Connective Tissue Diseases"]
["C0007971","Cheilitis",1533,2,"0.39024983625431026","   Stomatognathic Diseases"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117","   Hemic and Lymphatic Diseases"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2873787","Deficiency of factor X [Stuart-Prower]",1531,2,"0.9823409279708865"]
["C0026267","Mitral Valve Prolapse Syndrome",1530,2,"0.15666223115234226","   Cardiovascular Diseases"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843","   Nervous System Diseases"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843","   Pathological Conditions, Signs and Symptoms"]
["C0024117","Chronic Obstructive Airway Disease",1529,2,"0.6912310300548151","   Respiratory Tract Diseases"]
["C1527303","Chronic Airflow Obstruction",1529,2,"0.7003753972171192","   Respiratory Tract Diseases"]
["C0151559","Central nervous system depression (disorder)",1527,2,"0.596908233595892"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763","   Nutritional and Metabolic Diseases"]
["C0392702","Abnormal involuntary movement",1526,2,"1.0"]
["C1860861","TREMOR, HEREDITARY ESSENTIAL, 1",1526,2,"1.0","   Nervous System Diseases"]
["C0018801","Heart failure",1523,2,"0.966996233275587","   Cardiovascular Diseases"]
["C0018802","Congestive heart failure",1523,2,"0.9664922736405422","   Cardiovascular Diseases"]
["C0272167","Reticular dysgenesis",1521,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0272167","Reticular dysgenesis",1521,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272167","Reticular dysgenesis",1521,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0272167","Reticular dysgenesis",1521,2,"1.0","   Immune System Diseases"]
["C1282908","De Vaal\\'s syndrome",1521,2,"1.0"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896","   Musculoskeletal Diseases"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896","   Stomatognathic Diseases"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","   Musculoskeletal Diseases"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","   Nervous System Diseases"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","   Eye Diseases"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697","   Pathological Conditions, Signs and Symptoms"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557","   Musculoskeletal Diseases"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557","   Eye Diseases"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557","   Skin and Connective Tissue Diseases"]
["C4310692","ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",1518,2,"0.9349076696179686"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563","   Skin and Connective Tissue Diseases"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563","   Nutritional and Metabolic Diseases"]
["C2749929","Musician\\'s Dystonia",1515,2,"0.6946182617384036","   Nervous System Diseases"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","   Neoplasms"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","   Digestive System Diseases"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454","   Neoplasms"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454","   Digestive System Diseases"]
["C0877221","Decreased erythroid precursor production",1511,2,"1.0"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0","   Hemic and Lymphatic Diseases"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314","   Digestive System Diseases"]
["C0149519","Chronic Persistent Hepatitis",1508,2,"0.8262575274558098","   Digestive System Diseases"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856","   Digestive System Diseases"]
["C0524611","Cryptogenic Chronic Hepatitis",1507,2,"0.6128263576684341","   Digestive System Diseases"]
["C0235812","Vitritis",1506,2,"0.5514805143348978"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152","   Eye Diseases"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152","   Skin and Connective Tissue Diseases"]
["C0003864","Arthritis",1503,2,"0.3662407056719722","   Musculoskeletal Diseases"]
["C0162323","Polyarthritis",1503,2,"0.2836236717604402","   Musculoskeletal Diseases"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757","   Musculoskeletal Diseases"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757","   Pathological Conditions, Signs and Symptoms"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638","   Musculoskeletal Diseases"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0235840","Neonatal diarrhea",1500,2,"0.9999999999999984"]
["C0495452","Noninfective neonatal diarrhea",1500,2,"0.9999999999999984"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808","   Digestive System Diseases"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808","   Nutritional and Metabolic Diseases"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808","   Pathological Conditions, Signs and Symptoms"]
["C4275062","Intestinal epithelial dysplasia",1499,2,"0.9992593093388547"]
["C0006266","Bronchial Spasm",1498,2,"1.0","   Respiratory Tract Diseases"]
["C1837371","Sudden Infant Death with Dysgenesis of the Testes Syndrome",1498,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","   Male Urogenital Diseases"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","   Female Urogenital Diseases and Pregnancy Complications"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584","   Male Urogenital Diseases"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584","   Female Urogenital Diseases and Pregnancy Complications"]
["C3266102","Steroid resistant nephrotic syndrome of childhood",1495,2,"0.6802326706319196"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666","   Male Urogenital Diseases"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666","   Female Urogenital Diseases and Pregnancy Complications"]
["C1271398","Pigment dispersion syndrome (disorder)",1492,2,"0.6484561206792332","   Eye Diseases"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812","   Nervous System Diseases"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812","   Eye Diseases"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812","   Pathological Conditions, Signs and Symptoms"]
["C0008350","Cholelithiasis",1491,2,"0.49590903592182917","   Digestive System Diseases"]
["C0947622","Cholecystolithiasis",1491,2,"0.405946169327562","   Digestive System Diseases"]
["C0268532","Deficiency of prolidase",1486,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0"]
["C0016977","Gall Bladder Diseases",1483,2,"0.33339552239079984","   Digestive System Diseases"]
["C3275124","Biliary System Disorder",1483,2,"0.4843113020635257"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774","   Musculoskeletal Diseases"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774","   Nervous System Diseases"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443","   Musculoskeletal Diseases"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443","   Nervous System Diseases"]
["C0494491","Mononeuropathies",1476,2,"0.8486055939681488","   Nervous System Diseases"]
["C4225318","EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",1476,2,"0.8576804381377912"]
["C0398788","Immunodeficiency syndrome, variable",1474,2,"1.0","   Immune System Diseases"]
["C0494266","Other specified immunodeficiencies",1474,2,"1.0"]
["C0241423","Atrophy of tongue",1472,2,"0.06702470554463351"]
["C3472711","Spinocerebellar ataxia 36",1472,2,"0.33752033883368693"]
["C0221260","Dystrophia unguium",1471,2,"0.3446832338711288"]
["C1834405","Nail dysplasia",1471,2,"0.370343242850545"]
["C1853205","Glycosylphosphatidylinositol deficiency",1470,2,"0.44828598636543987"]
["C4014958","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5",1470,2,"0.38532317021966167"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897","   Endocrine System Diseases"]
["C0040558","Toxoplasmosis",1469,2,"0.5598850919242668"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279","   Male Urogenital Diseases"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279","   Female Urogenital Diseases and Pregnancy Complications"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279","   Nutritional and Metabolic Diseases"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Otorhinolaryngologic Diseases"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Nervous System Diseases"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Male Urogenital Diseases"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Female Urogenital Diseases and Pregnancy Complications"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Nutritional and Metabolic Diseases"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591","   Pathological Conditions, Signs and Symptoms"]
["C0543669","Neutrophilia, Hereditary",1466,2,"1.0","   Hemic and Lymphatic Diseases"]
["C4310764","NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",1466,2,"1.0"]
["C3280155","MECKEL SYNDROME, TYPE 9",1463,2,"1.0"]
["C4310706","JOUBERT SYNDROME 27",1463,2,"1.0"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0","   Musculoskeletal Diseases"]
["C0268425","Alstrom Syndrome",1462,2,"1.0","   Nervous System Diseases"]
["C0268425","Alstrom Syndrome",1462,2,"1.0","   Eye Diseases"]
["C0268425","Alstrom Syndrome",1462,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0","   Respiratory Tract Diseases"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0","   Nervous System Diseases"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4310694","MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",1461,2,"1.0"]
["C2986691","Inherited bone marrow failure syndrome",1458,2,"0.9380677966232861"]
["C4310744","BONE MARROW FAILURE SYNDROME 3",1458,2,"0.9364712329965857"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031","   Musculoskeletal Diseases"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031","   Nervous System Diseases"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4012727","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",1455,2,"0.6612955252399989"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106","   Musculoskeletal Diseases"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106","   Nervous System Diseases"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4014738","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2",1454,2,"0.6672655055693232"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1863224","Adenosine Triphosphate, Elevated, Of Erythrocytes",1449,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796","   Nutritional and Metabolic Diseases"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135","   Nutritional and Metabolic Diseases"]
["C4225347","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4",1444,2,"1.0"]
["C4225356","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",1444,2,"1.0"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0","   Musculoskeletal Diseases"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553758","JOUBERT SYNDROME 18",1443,2,"1.0"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0","   Nervous System Diseases"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3281235","BARAITSER-WINTER SYNDROME 2",1442,2,"1.0"]
["C1846331","Juvenile-onset dystonia",1441,2,"1.0","   Nervous System Diseases"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0","   Neoplasms"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0029429","Osteochondrosis",1440,2,"0.8069608419822124","   Musculoskeletal Diseases"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Nervous System Diseases"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Eye Diseases"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Pathological Conditions, Signs and Symptoms"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Behavior and Behavior Mechanisms"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964","   Mental Disorders"]
["C3809454","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",1437,2,"1.0"]
["C4225398","CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY",1437,2,"1.0"]
["C3280526","ARTHROGRYPOSIS, DISTAL, TYPE 1B",1436,2,"0.9249505911485285"]
["C3554046","LETHAL CONGENITAL CONTRACTURE SYNDROME 4",1436,2,"0.9314737620755409"]
["C0014335","Enteritis",1434,2,"0.9879426557371656","   Digestive System Diseases"]
["C2677093","Inflammatory Bowel Disease 16",1434,2,"0.9879025609714773","   Digestive System Diseases"]
["C0151718","Hypocholesterolemia",1433,2,"0.33012678812714935"]
["C1863551","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3",1433,2,"0.19665291281432154","   Nutritional and Metabolic Diseases"]
["C1335029","Non-Neoplastic Peripheral Nervous System Disorder",1430,2,"0.5023225742943741"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443","   Nutritional and Metabolic Diseases"]
["C1291312","Deficiency of oxidase",1429,2,"0.3943931652889704"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017","   Nutritional and Metabolic Diseases"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","   Respiratory Tract Diseases"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","   Cardiovascular Diseases"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627","   Respiratory Tract Diseases"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627","   Cardiovascular Diseases"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285","   Male Urogenital Diseases"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285","   Female Urogenital Diseases and Pregnancy Complications"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833","   Male Urogenital Diseases"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268634","Disorder of fatty acid metabolism",1421,2,"0.4142135623730946"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736","   Nutritional and Metabolic Diseases"]
["C0235831","Renal Cell Dysplasia",1419,2,"0.9997021305126301"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Otorhinolaryngologic Diseases"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Nervous System Diseases"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Male Urogenital Diseases"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Female Urogenital Diseases and Pregnancy Complications"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Endocrine System Diseases"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974","   Pathological Conditions, Signs and Symptoms"]
["C1827377","Slow acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8526657136218124"]
["C1827820","Fast acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8345100102085748"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0","   Occupational Diseases"]
["C0086457","Industrial Dermatosis",1416,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0086457","Industrial Dermatosis",1416,2,"1.0","   Occupational Diseases"]
["C0026780","Mumps",1414,2,"1.0","   Stomatognathic Diseases"]
["C1562585","Leprosy, Multibacillary",1414,2,"1.0","   Infections"]
["C2674705","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",1413,2,"1.0","   Musculoskeletal Diseases"]
["C4310752","DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS",1413,2,"1.0"]
["C0271379","Convergence Insufficiency",1412,2,"1.0","   Nervous System Diseases"]
["C0271379","Convergence Insufficiency",1412,2,"1.0","   Eye Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Musculoskeletal Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Digestive System Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Nervous System Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Eye Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019","   Nervous System Diseases"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019","   Eye Diseases"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967","   Nervous System Diseases"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967","   Eye Diseases"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0429468","Anovulatory (finding)",1406,2,"0.47168332213328373"]
["C1960447","Hypergonadotropic amenorrhea",1406,2,"0.7173063832417884"]
["C0272175","Immune neutropenia",1404,2,"0.6026267298452191"]
["C0272176","Alloimmune neonatal neutropenia",1404,2,"0.15755240005121957"]
["C0033770","Prune Belly Syndrome",1402,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0","   Male Urogenital Diseases"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0","   Cardiovascular Diseases"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262","   Cardiovascular Diseases"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553060","EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",1400,2,"0.9200732965020476"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155","   Skin and Connective Tissue Diseases"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155","   Immune System Diseases"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006","   Skin and Connective Tissue Diseases"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006","   Immune System Diseases"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688","   Neoplasms"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688","   Digestive System Diseases"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537","   Neoplasms"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537","   Digestive System Diseases"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0031115","Peripheral angiopathy in diseases classified elsewhere",1394,2,"0.6809517019828334"]
["C0750151","Vaso-Occlusive Crisis",1394,2,"0.7025588374726794"]
["C3808899","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4",1393,2,"0.9435324364824292"]
["C4015062","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22",1393,2,"0.9438218026003791"]
["C2700431","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE",1392,2,"1.0"]
["C3276276","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",1392,2,"1.0"]
["C0162835","Hypopigmentation disorder",1390,2,"0.2647585969412623","   Skin and Connective Tissue Diseases"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146","   Nervous System Diseases"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146","   Eye Diseases"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146","   Pathological Conditions, Signs and Symptoms"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0","   Chemically-Induced Disorders"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0","   Mental Disorders"]
["C1837893","SCHIZOPHRENIA 12",1384,2,"1.0"]
["C0011876","Diabetic cataract",1383,2,"0.6845916832455673"]
["C1514284","Potassium Deficiency Disorder",1383,2,"0.6915367632325774"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207","   Respiratory Tract Diseases"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207","   Occupational Diseases"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654","   Respiratory Tract Diseases"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654","   Occupational Diseases"]
["C0752100","Autosomal Recessive Parkinsonism",1379,2,"0.27047966988755523","   Nervous System Diseases"]
["C0752105","Parkinsonism, Juvenile",1379,2,"0.42568383807760807","   Nervous System Diseases"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0","   Cardiovascular Diseases"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0","   Cardiovascular Diseases"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0","   Nervous System Diseases"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3553656","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB",1373,2,"1.0"]
["C0003257","Antibody Deficiency Syndrome",1372,2,"0.590638217785264","   Immune System Diseases"]
["C0021051","Immunologic Deficiency Syndromes",1372,2,"0.6290146726113154","   Immune System Diseases"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838","   Nutritional and Metabolic Diseases"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838","   Immune System Diseases"]
["C1611706","Myosclerosis",1367,2,"1.0"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0","   Musculoskeletal Diseases"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0","   Nervous System Diseases"]
["C2937300","Congenital hereditary muscular dystrophy",1366,2,"1.0"]
["C4225336","DYSTONIA 27",1366,2,"1.0"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721","   Musculoskeletal Diseases"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721","   Nervous System Diseases"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721","   Pathological Conditions, Signs and Symptoms"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493","   Musculoskeletal Diseases"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493","   Nervous System Diseases"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143","   Nervous System Diseases"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263","   Nervous System Diseases"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","   Digestive System Diseases"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","   Nervous System Diseases"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","   Nutritional and Metabolic Diseases"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","   Digestive System Diseases"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","   Nervous System Diseases"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582","   Nutritional and Metabolic Diseases"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806"]
["C0006271","Bronchiolitis",1352,2,"0.3312540847342675","   Respiratory Tract Diseases"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024","   Nutritional and Metabolic Diseases"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024","   Immune System Diseases"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715","   Male Urogenital Diseases"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715","   Female Urogenital Diseases and Pregnancy Complications"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398","   Male Urogenital Diseases"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398","   Female Urogenital Diseases and Pregnancy Complications"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Musculoskeletal Diseases"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Nervous System Diseases"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Male Urogenital Diseases"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Endocrine System Diseases"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0796081","Myhre syndrome",1346,2,"1.0","   Mental Disorders"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0","   Digestive System Diseases"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0","   Cardiovascular Diseases"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Neoplasms"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Digestive System Diseases"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Neoplasms"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Digestive System Diseases"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599","   Neoplasms"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599","   Digestive System Diseases"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516","   Neoplasms"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516","   Digestive System Diseases"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268414","Hyperphosphatasemia with bone disease",1342,2,"0.8634178441561433","   Musculoskeletal Diseases"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621","   Nutritional and Metabolic Diseases"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987","   Cardiovascular Diseases"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987","   Endocrine System Diseases"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167","   Cardiovascular Diseases"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167","   Endocrine System Diseases"]
["C0040896","Trichinellosis",1338,2,"0.9676544328470965"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109","   Otorhinolaryngologic Diseases"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109","   Nervous System Diseases"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109","   Pathological Conditions, Signs and Symptoms"]
["C0042847","Vitamin B 12 Deficiency",1337,2,"0.400561110536149","   Nutritional and Metabolic Diseases"]
["C3553915","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",1337,2,"0.5571722360340035"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973","   Nervous System Diseases"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973","   Pathological Conditions, Signs and Symptoms"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595","   Nervous System Diseases"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289","   Musculoskeletal Diseases"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289","   Cardiovascular Diseases"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289","   Mental Disorders"]
["C4303860","Craniofacial ulnar renal syndrome",1333,2,"0.7276725189747749"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573","   Musculoskeletal Diseases"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573","   Eye Diseases"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Musculoskeletal Diseases"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Nervous System Diseases"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Eye Diseases"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Male Urogenital Diseases"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726","   Endocrine System Diseases"]
["C0036305","Schamberg Disease",1331,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0036305","Schamberg Disease",1331,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0549567","Pigmentation Disorders",1331,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0549567","Pigmentation Disorders",1331,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974"]
["C0743359","Chronic ear infection",1330,2,"0.9999999999999974"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623","   Infections"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623","   Musculoskeletal Diseases"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","   Respiratory Tract Diseases"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","   Otorhinolaryngologic Diseases"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","   Respiratory Tract Diseases"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","   Otorhinolaryngologic Diseases"]
["C3809872","PERIVENTRICULAR NODULAR HETEROTOPIA 6",1325,2,"1.0"]
["C4304514","6q terminal deletion syndrome",1325,2,"1.0"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545","   Nervous System Diseases"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246","   Nervous System Diseases"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Musculoskeletal Diseases"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Nervous System Diseases"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Male Urogenital Diseases"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Female Urogenital Diseases and Pregnancy Complications"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201","   Nutritional and Metabolic Diseases"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085","   Male Urogenital Diseases"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085","   Female Urogenital Diseases and Pregnancy Complications"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085","   Nutritional and Metabolic Diseases"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","   Otorhinolaryngologic Diseases"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","   Nervous System Diseases"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","   Eye Diseases"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819","   Pathological Conditions, Signs and Symptoms"]
["C3280041","RETINITIS PIGMENTOSA 61",1318,2,"0.8064481575566744"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191","   Skin and Connective Tissue Diseases"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369","   Skin and Connective Tissue Diseases"]
["C3806917","CRANIOSYNOSTOSIS 4",1314,2,"1.0"]
["C4310679","CHITAYAT SYNDROME",1314,2,"1.0"]
["C0085577","Normocytic anemia",1313,2,"0.43670068381445454"]
["C0235983","Normochromic anemia",1313,2,"0.43670068381445454"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657","   Nervous System Diseases"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657","   Nutritional and Metabolic Diseases"]
["C4025020","Acute hepatic steatosis",1311,2,"0.6189166498244726"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0","   Immune System Diseases"]
["C4014557","MYOPATHY, TUBULAR AGGREGATE, 2",1308,2,"1.0"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116","   Cardiovascular Diseases"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395","   Nutritional and Metabolic Diseases"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Nervous System Diseases"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Male Urogenital Diseases"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Endocrine System Diseases"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Otorhinolaryngologic Diseases"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Nervous System Diseases"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Male Urogenital Diseases"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Endocrine System Diseases"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0","   Male Urogenital Diseases"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0","   Endocrine System Diseases"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0","   Male Urogenital Diseases"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0","   Endocrine System Diseases"]
["C0348460","Other hyperaldosteronism",1303,2,"0.18878692946233366"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157","   Male Urogenital Diseases"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157","   Female Urogenital Diseases and Pregnancy Complications"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157","   Endocrine System Diseases"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","   Male Urogenital Diseases"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","   Female Urogenital Diseases and Pregnancy Complications"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","   Endocrine System Diseases"]
["C0740898","Hypokalemic metabolic alkalosis",1302,2,"0.45535063513060364"]
["C1859844","LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)",1300,2,"1.0","   Eye Diseases"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0","   Eye Diseases"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0152443","Urethral diverticulum",1297,2,"1.0"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0","   Cardiovascular Diseases"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592","   Female Urogenital Diseases and Pregnancy Complications"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592","   Skin and Connective Tissue Diseases"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592","   Pathological Conditions, Signs and Symptoms"]
["C3281289","TRICHOHEPATOENTERIC SYNDROME 2",1295,2,"0.5484954582860951"]
["C1859312","CAMFAK syndrome",1292,2,"1.0","   Musculoskeletal Diseases"]
["C1859312","CAMFAK syndrome",1292,2,"1.0","   Nervous System Diseases"]
["C1859312","CAMFAK syndrome",1292,2,"1.0","   Eye Diseases"]
["C1859312","CAMFAK syndrome",1292,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859312","CAMFAK syndrome",1292,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0","   Eye Diseases"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020241","Hydroa Vacciniforme",1291,2,"0.9691996983110974","   Skin and Connective Tissue Diseases"]
["C1833561","UV-Sensitive Syndrome",1291,2,"0.9663567408071206","   Skin and Connective Tissue Diseases"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0","   Cardiovascular Diseases"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3810012","RIENHOFF SYNDROME",1286,2,"1.0"]
["C1842124","BRANCHIOOTIC SYNDROME 3 (disorder)",1285,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0","   Nervous System Diseases"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1833691","Otofaciocervical Syndrome",1284,2,"0.9999999999999992","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931416","Fara Chlupackova syndrome",1284,2,"0.9999999999999992"]
["C1260894","Hypertrophic obesity",1282,2,"1.0"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Musculoskeletal Diseases"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Nervous System Diseases"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Eye Diseases"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Male Urogenital Diseases"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729","   Stomatognathic Diseases"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831","   Musculoskeletal Diseases"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831","   Stomatognathic Diseases"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0017155","Gastritis, Hypertrophic",1278,2,"0.6518707927038697","   Digestive System Diseases"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222","   Cardiovascular Diseases"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222","   Pathological Conditions, Signs and Symptoms"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","   Nervous System Diseases"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","   Cardiovascular Diseases"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947","   Nervous System Diseases"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947","   Cardiovascular Diseases"]
["C0000809","Abortion, Habitual",1274,2,"0.45258826509498923","   Female Urogenital Diseases and Pregnancy Complications"]
["C0004509","Azoospermia",1274,2,"0.17912247405891452","   Male Urogenital Diseases"]
["C0025281","Meniere Disease",1272,2,"0.5143358249322583","   Otorhinolaryngologic Diseases"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674","   Cardiovascular Diseases"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525","   Musculoskeletal Diseases"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525","   Nervous System Diseases"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086","   Musculoskeletal Diseases"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086","   Nervous System Diseases"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0235574","Intravascular hemolysis",1267,2,"0.9827146256296009","   Pathological Conditions, Signs and Symptoms"]
["C0312854","Extravascular Hemolysis",1267,2,"0.9830977683208306","   Pathological Conditions, Signs and Symptoms"]
["C0024473","Magnesium Deficiency",1264,2,"0.8519725714103367","   Nutritional and Metabolic Diseases"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","   Male Urogenital Diseases"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","   Female Urogenital Diseases and Pregnancy Complications"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","   Nutritional and Metabolic Diseases"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526","   Hemic and Lymphatic Diseases"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061","   Digestive System Diseases"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061","   Skin and Connective Tissue Diseases"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061","   Nutritional and Metabolic Diseases"]
["C4225425","ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",1261,2,"0.6681844956895604"]
["C4274077","Autosomal recessive sideroblastic anemia",1261,2,"0.14426450077914602"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","   Musculoskeletal Diseases"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","   Digestive System Diseases"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","   Male Urogenital Diseases"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","   Female Urogenital Diseases and Pregnancy Complications"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150672","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",1255,2,"0.8228974361357007"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721"]
["C4020697","Giant cell hepatitis on liver biopsy",1254,2,"0.9674837487832815"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958","   Digestive System Diseases"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958","   Nutritional and Metabolic Diseases"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498","   Nervous System Diseases"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498","   Nutritional and Metabolic Diseases"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117","   Musculoskeletal Diseases"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117","   Endocrine System Diseases"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","   Musculoskeletal Diseases"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","   Endocrine System Diseases"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4304526","5q35 microduplication syndrome",1250,2,"0.8034306746759059"]
["C0432261","Osteopetrosis - intermediate type",1247,2,"0.7944092834839236"]
["C1969093","Osteopetrosis, Autosomal Recessive 6",1247,2,"0.85206035659522","   Musculoskeletal Diseases"]
["C1850126","Osteopetrosis, mild autosomal recessive form",1245,2,"0.8524958902742232","   Musculoskeletal Diseases"]
["C4025318","Chronic rhinitis due to narrow nasal airway",1245,2,"0.890626014422713"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038","   Nervous System Diseases"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038","   Eye Diseases"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0","   Nervous System Diseases"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3714760","Drug-induced tardive dyskinesia",1242,2,"1.0"]
["C0276501","Human immunodeficiency virus II infection",1241,2,"0.11505819125095162"]
["C1832097","EPIDERMAL DIFFERENTIATION COMPLEX",1241,2,"0.12157183903492909"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789","   Nervous System Diseases"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789","   Cardiovascular Diseases"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493","   Nervous System Diseases"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493","   Cardiovascular Diseases"]
["C4225378","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY",1239,2,"1.0"]
["C4540355","JOUBERT SYNDROME 31",1239,2,"1.0"]
["C4225252","IMMUNODEFICIENCY 45",1237,2,"0.7883097787584327"]
["C4225260","IMMUNODEFICIENCY 44",1237,2,"0.7751681058336038"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456","   Skin and Connective Tissue Diseases"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889","   Skin and Connective Tissue Diseases"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0","   Male Urogenital Diseases"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C3280845","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",1234,2,"1.0"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987","   Nervous System Diseases"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987","   Eye Diseases"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987","   Male Urogenital Diseases"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987","   Female Urogenital Diseases and Pregnancy Complications"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588","   Male Urogenital Diseases"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588","   Female Urogenital Diseases and Pregnancy Complications"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","   Nervous System Diseases"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","   Eye Diseases"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","   Male Urogenital Diseases"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","   Female Urogenital Diseases and Pregnancy Complications"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0687120","Nephronophthisis",1231,2,"0.3691188545802995"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486","   Male Urogenital Diseases"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486","   Female Urogenital Diseases and Pregnancy Complications"]
["C3887499","Renal cyst",1229,2,"0.47156372814058795"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","   Nervous System Diseases"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","   Male Urogenital Diseases"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Nervous System Diseases"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Eye Diseases"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Male Urogenital Diseases"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0","   Mental Disorders"]
["C0265215","Meckel-Gruber syndrome",1225,2,"0.3836049514725714"]
["C1853235","Sclerocornea",1225,2,"0.5256736191656237","   Eye Diseases"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707","   Cardiovascular Diseases"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707","   Pathological Conditions, Signs and Symptoms"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648","   Eye Diseases"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150874","CRANIOECTODERMAL DYSPLASIA 2",1219,2,"0.9603897250236316"]
["C3279792","SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY",1219,2,"0.9599874819609588"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0","   Musculoskeletal Diseases"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4012268","TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",1216,2,"1.0"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117","   Skin and Connective Tissue Diseases"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117","   Nutritional and Metabolic Diseases"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901","   Skin and Connective Tissue Diseases"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901","   Nutritional and Metabolic Diseases"]
["C0265354","CHARGE Syndrome",1214,2,"0.9191471251905701","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2936502","Familial CHARGE Syndrome",1214,2,"0.9003052600390744","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675302","KALLMANN SYNDROME 5 (disorder)",1213,2,"1.0"]
["C3552553","HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA",1213,2,"1.0"]
["C1970440","CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)",1212,2,"1.0","   Cardiovascular Diseases"]
["C4225231","TOOTH AGENESIS, SELECTIVE, 7",1212,2,"1.0"]
["C2910126","Patent or persistent ostium secundum defect (type II)",1209,2,"1.0"]
["C2910127","Patent or persistent sinus venosus defect",1209,2,"1.0"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707","   Nutritional and Metabolic Diseases"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266","   Nutritional and Metabolic Diseases"]
["C3280679","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",1202,2,"1.0"]
["C3541476","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",1202,2,"1.0"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","   Nervous System Diseases"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","   Eye Diseases"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","   Pathological Conditions, Signs and Symptoms"]
["C3489704","Vision Disability",1200,2,"0.897731631073227","   Nervous System Diseases"]
["C3489704","Vision Disability",1200,2,"0.897731631073227","   Eye Diseases"]
["C3489704","Vision Disability",1200,2,"0.897731631073227","   Pathological Conditions, Signs and Symptoms"]
["C1843315","Neuronopathy, Distal Hereditary Motor, Type Viib",1197,2,"0.9960557128089368","   Nervous System Diseases"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412","   Respiratory Tract Diseases"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412","   Nervous System Diseases"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412","   Pathological Conditions, Signs and Symptoms"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412","   Behavior and Behavior Mechanisms"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865","   Nervous System Diseases"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146","   Nervous System Diseases"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Male Urogenital Diseases"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0","   Endocrine System Diseases"]
["C1849695","Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency",1191,2,"1.0"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996","   Male Urogenital Diseases"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996","   Female Urogenital Diseases and Pregnancy Complications"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996","   Endocrine System Diseases"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996","   Male Urogenital Diseases"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996","   Female Urogenital Diseases and Pregnancy Complications"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996","   Endocrine System Diseases"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658","   Nervous System Diseases"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Digestive System Diseases"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Nervous System Diseases"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Male Urogenital Diseases"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Female Urogenital Diseases and Pregnancy Complications"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","   Nutritional and Metabolic Diseases"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Digestive System Diseases"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Nervous System Diseases"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Male Urogenital Diseases"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Female Urogenital Diseases and Pregnancy Complications"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023","   Nutritional and Metabolic Diseases"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Digestive System Diseases"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Nervous System Diseases"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Male Urogenital Diseases"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Female Urogenital Diseases and Pregnancy Complications"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","   Nutritional and Metabolic Diseases"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692","   Nervous System Diseases"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692","   Nutritional and Metabolic Diseases"]
["C0266427","Testicular regression syndrome",1179,2,"1.0","   Male Urogenital Diseases"]
["C0266427","Testicular regression syndrome",1179,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0266427","Testicular regression syndrome",1179,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0266427","Testicular regression syndrome",1179,2,"1.0","   Endocrine System Diseases"]
["C4510744","46,XY partial gonadal dysgenesis",1179,2,"1.0"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0","   Nervous System Diseases"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280797","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",1174,2,"1.0"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943","   Nervous System Diseases"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943","   Nutritional and Metabolic Diseases"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943","   Nervous System Diseases"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943","   Nutritional and Metabolic Diseases"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","   Male Urogenital Diseases"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","   Female Urogenital Diseases and Pregnancy Complications"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098","   Male Urogenital Diseases"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268613","Disorder of sulfur-bearing amino acid metabolism",1164,2,"0.8385223249579978"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066","   Nutritional and Metabolic Diseases"]
["C0521857","Increased drug resistance",1162,2,"1.0"]
["C4540293","IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",1162,2,"1.0"]
["C0007196","Restrictive cardiomyopathy",1159,2,"0.4540983319334666","   Cardiovascular Diseases"]
["C0348616","Other restrictive cardiomyopathy",1159,2,"0.7425494796420091"]
["C0342543","Central Precocious Puberty",1158,2,"0.25321663309340026","   Endocrine System Diseases"]
["C0342544","Idiopathic central precocious puberty",1158,2,"0.5940290300661761"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739","   Musculoskeletal Diseases"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739","   Cardiovascular Diseases"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","   Musculoskeletal Diseases"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","   Cardiovascular Diseases"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278","   Eye Diseases"]
["C0264413","Late onset asthma",1153,2,"0.8130589681681095"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728","   Nervous System Diseases"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4275024","Spinocerebellar ataxia type 8",1149,2,"0.6578129948411049"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021","   Male Urogenital Diseases"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021","   Female Urogenital Diseases and Pregnancy Complications"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554","   Male Urogenital Diseases"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554","   Female Urogenital Diseases and Pregnancy Complications"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","   Skin and Connective Tissue Diseases"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","   Immune System Diseases"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265","   Skin and Connective Tissue Diseases"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265","   Immune System Diseases"]
["C0033817","Pseudomonas Infections",1136,2,"0.9736862246271955","   Infections"]
["C0854135","Pseudomonas aeruginosa infection",1136,2,"0.970674399737973","   Infections"]
["C0021847","Intestinal Pseudo-Obstruction",1124,2,"0.40317560541625125","   Digestive System Diseases"]
["C0030446","Paralytic Ileus",1124,2,"0.5217970390924583","   Digestive System Diseases"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528","   Skin and Connective Tissue Diseases"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528","   Nutritional and Metabolic Diseases"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114","   Skin and Connective Tissue Diseases"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114","   Nutritional and Metabolic Diseases"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281","   Male Urogenital Diseases"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546","   Male Urogenital Diseases"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546","   Endocrine System Diseases"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546","   Pathological Conditions, Signs and Symptoms"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0","   Musculoskeletal Diseases"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3280342","STICKLER SYNDROME, TYPE V",1101,2,"1.0"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575","   Musculoskeletal Diseases"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575","   Pathological Conditions, Signs and Symptoms"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768","   Musculoskeletal Diseases"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768","   Pathological Conditions, Signs and Symptoms"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","   Musculoskeletal Diseases"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","   Skin and Connective Tissue Diseases"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684","   Musculoskeletal Diseases"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684","   Male Urogenital Diseases"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684","   Female Urogenital Diseases and Pregnancy Complications"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684","   Skin and Connective Tissue Diseases"]
["C3711376","Isodicentric Chromosome 15 Syndrome",1097,2,"0.4164850544134028","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4310712","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43",1097,2,"0.1761085741518913"]
["C3810313","DOWLING-DEGOS DISEASE 4",1096,2,"1.0"]
["C4310660","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",1096,2,"1.0"]
["C1865295","Auriculo-condylar syndrome",1095,2,"0.22596025311926737","   Otorhinolaryngologic Diseases"]
["C3553404","AURICULOCONDYLAR SYNDROME 2",1095,2,"0.5800479358559968"]
["C2677338","Cardiomyopathy, Dilated, 1AA",1091,2,"1.0","   Cardiovascular Diseases"]
["C4225403","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",1091,2,"1.0"]
["C0343055","Generalized pustular psoriasis",1089,2,"0.573505897743746"]
["C0392439","Acrodermatitis continua of Hallopeau",1089,2,"0.6034108222593161"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0","   Respiratory Tract Diseases"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0","   Otorhinolaryngologic Diseases"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0","   Respiratory Tract Diseases"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0","   Otorhinolaryngologic Diseases"]
["C0008489","Chorea",1087,2,"0.5817541337085892","   Nervous System Diseases"]
["C0008489","Chorea",1087,2,"0.5817541337085892","   Pathological Conditions, Signs and Symptoms"]
["C4020858","Choreatic disease",1087,2,"0.797168543895444"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281","   Nervous System Diseases"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281","   Pathological Conditions, Signs and Symptoms"]
["C1863062","Episodic quadriplegia",1079,2,"0.5435616645304149"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279","   Musculoskeletal Diseases"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279","   Nervous System Diseases"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523","   Musculoskeletal Diseases"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523","   Nervous System Diseases"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619","   Nutritional and Metabolic Diseases"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745","   Nutritional and Metabolic Diseases"]
["C3809606","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",1072,2,"0.8631453698009163"]
["C4479569","NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS",1072,2,"0.8886491791176292"]
["C0020617","Hypoglycemic coma",1067,2,"0.2767185585329721"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002","   Nutritional and Metabolic Diseases"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002","   Endocrine System Diseases"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217","   Nutritional and Metabolic Diseases"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217","   Endocrine System Diseases"]
["C3150617","Maturity-onset diabetes of the young, type 10",1065,2,"0.9507603149588209"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348","   Nutritional and Metabolic Diseases"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348","   Endocrine System Diseases"]
["C1865290","Hyperinsulinemic hypoglycemia, familial, 3",1063,2,"0.8545320016886053","   Nutritional and Metabolic Diseases"]
["C1960469","Left ventricular noncompaction",1058,2,"0.5811015942894953"]
["C4021133","Left ventricular noncompaction cardiomyopathy",1058,2,"0.5235726950831312"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0","   Nervous System Diseases"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444","   Nutritional and Metabolic Diseases"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","   Nutritional and Metabolic Diseases"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377","   Nutritional and Metabolic Diseases"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159","   Hemic and Lymphatic Diseases"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4304505","8p11.2 deletion syndrome",1051,2,"0.8662695367980746"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622","   Hemic and Lymphatic Diseases"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489","   Hemic and Lymphatic Diseases"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489","   Pathological Conditions, Signs and Symptoms"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046","   Otorhinolaryngologic Diseases"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046","   Nervous System Diseases"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046","   Pathological Conditions, Signs and Symptoms"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565","   Otorhinolaryngologic Diseases"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565","   Nervous System Diseases"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565","   Pathological Conditions, Signs and Symptoms"]
["C1138434","Genetic Diseases, X-Linked",1045,2,"0.9979955756181758"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258","   Nervous System Diseases"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258","   Nutritional and Metabolic Diseases"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258","   Endocrine System Diseases"]
["C0343386","Clostridium difficile infection",1044,2,"0.9744737905593374","   Infections"]
["C1411966","Clostridium"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0","   Immune System Diseases"]
["C2955673","Urate nephropathy",1043,2,"1.0"]
["C0393706","Early infantile epileptic encephalopathy with suppression bursts",1042,2,"0.15288439742569668"]
["C2677326","Epileptic Encephalopathy, Early Infantile, 4",1042,2,"0.18722178804574632","   Nervous System Diseases"]
["C0159020","Convulsions in the newborn",1034,2,"0.3782057960325707"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147","   Nervous System Diseases"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0","   Nervous System Diseases"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0","   Nervous System Diseases"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0","   Endocrine System Diseases"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444","   Musculoskeletal Diseases"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444","   Respiratory Tract Diseases"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444","   Skin and Connective Tissue Diseases"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","   Musculoskeletal Diseases"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","   Respiratory Tract Diseases"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","   Skin and Connective Tissue Diseases"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227","   Male Urogenital Diseases"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227","   Nutritional and Metabolic Diseases"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227","   Endocrine System Diseases"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914","   Male Urogenital Diseases"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914","   Female Urogenital Diseases and Pregnancy Complications"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914","   Nutritional and Metabolic Diseases"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914","   Endocrine System Diseases"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625","   Musculoskeletal Diseases"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625","   Nervous System Diseases"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125","   Musculoskeletal Diseases"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125","   Nervous System Diseases"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125","   Cardiovascular Diseases"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908","   Nervous System Diseases"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204","   Nervous System Diseases"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857627","Chorioretinal dystrophy",1018,2,"0.2991993329525742"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639","   Nervous System Diseases"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639","   Endocrine System Diseases"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639","   Pathological Conditions, Signs and Symptoms"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102","   Stomatognathic Diseases"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102","   Otorhinolaryngologic Diseases"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4021592","Unilateral primary pulmonary dysgenesis",1017,2,"0.5543990106061871"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984","   Skin and Connective Tissue Diseases"]
["C3806554","Dysseborrheic dermatitis",1015,2,"0.9999999999999984"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","   Musculoskeletal Diseases"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","   Cardiovascular Diseases"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","   Hemic and Lymphatic Diseases"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","   Endocrine System Diseases"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","   Musculoskeletal Diseases"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","   Cardiovascular Diseases"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","   Hemic and Lymphatic Diseases"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","   Endocrine System Diseases"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","   Musculoskeletal Diseases"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","   Nervous System Diseases"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0","   Behavior and Behavior Mechanisms"]
["C4015019","NEU-LAXOVA SYNDROME 2",1009,2,"1.0"]
["C1859709","Kuskokwim disease",1007,2,"1.0","   Musculoskeletal Diseases"]
["C1859709","Kuskokwim disease",1007,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151218","OSTEOGENESIS IMPERFECTA, TYPE XI",1007,2,"1.0"]
["C0012754","Distemper",1005,2,"1.0","   Animal Diseases"]
["C3150807","ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",1005,2,"1.0"]
["C0263449","Perioral Dermatitis",1004,2,"0.918465657485471","   Skin and Connective Tissue Diseases"]
["C3714948","PACHYONYCHIA CONGENITA 3",1004,2,"0.9199167778120383"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0","   Eye Diseases"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0","   Eye Diseases"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0311338","Fundus Albipunctatus",1000,2,"0.9505547627879886","   Eye Diseases"]
["C1405854","Retinitis punctata albescens (disorder)",1000,2,"0.9385325537583171","   Eye Diseases"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651","   Respiratory Tract Diseases"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651","   Nervous System Diseases"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651","   Pathological Conditions, Signs and Symptoms"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895","   Respiratory Tract Diseases"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895","   Nervous System Diseases"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895","   Pathological Conditions, Signs and Symptoms"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0","   Skin and Connective Tissue Diseases"]
["C3539888","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",997,2,"1.0"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087","   Skin and Connective Tissue Diseases"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774"]
["C4014414","MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",992,2,"0.7739230884715675"]
["C4310683","DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",992,2,"0.8463529097363073"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0"]
["C4225280","NOONAN SYNDROME 10",991,2,"1.0"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0","   Hemic and Lymphatic Diseases"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0","   Immune System Diseases"]
["C4014795","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",989,2,"1.0"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691","   Hemic and Lymphatic Diseases"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691","   Immune System Diseases"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292","   Hemic and Lymphatic Diseases"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292","   Immune System Diseases"]
["C2750074","Rhabdoid Tumor Predisposition Syndrome 2",987,2,"0.7495043829608568","   Neoplasms"]
["C3553249","COFFIN-SIRIS SYNDROME 4",987,2,"0.47691184087043675"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Nervous System Diseases"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Hemic and Lymphatic Diseases"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Nutritional and Metabolic Diseases"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Immune System Diseases"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","   Pathological Conditions, Signs and Symptoms"]
["C0559506","Neonatal unconjugated hyperbilirubinemia",980,2,"0.9629535304817508"]
["C0268199","Familial apolipoprotein C-II deficiency",979,2,"0.8627265902538743"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627","   Nutritional and Metabolic Diseases"]
["C0221252","Eruptive xanthoma",976,2,"0.427639577192762"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656","   Nervous System Diseases"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151853","MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE",973,2,"0.9819746152502863"]
["C0017605","Angle Closure Glaucoma",970,2,"0.7049276108717428","   Eye Diseases"]
["C0017606","Primary angle-closure glaucoma",970,2,"0.6557167140677719"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0","   Nervous System Diseases"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837552","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",966,2,"1.0"]
["C3554428","OSTEOGENESIS IMPERFECTA, TYPE XIV",964,2,"0.654748724664011"]
["C3808844","OSTEOGENESIS IMPERFECTA, TYPE XV",964,2,"0.6333018672635082"]
["C1847640","KUFOR-RAKEB SYNDROME",962,2,"1.0","   Nervous System Diseases"]
["C4310662","SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",962,2,"1.0"]
["C0863106","Afebrile seizure",957,2,"0.3731672679933728"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","   Nervous System Diseases"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","   Pathological Conditions, Signs and Symptoms"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","   Behavior and Behavior Mechanisms"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069","   Mental Disorders"]
["C0339652","Vertical gaze palsy",955,2,"0.9999999999999996"]
["C1843369","Vertical supranuclear gaze palsy",955,2,"0.9999999999999996"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","   Nervous System Diseases"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2231324","Brucellosis, Pulmonary",954,2,"1.0","   Infections"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","   Nervous System Diseases"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","   Hemic and Lymphatic Diseases"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","   Nutritional and Metabolic Diseases"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","   Nervous System Diseases"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","   Hemic and Lymphatic Diseases"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827","   Nutritional and Metabolic Diseases"]
["C0156344","Endometriosis of ovary",946,2,"0.4491920550752994"]
["C3809250","ESTROGEN RESISTANCE",946,2,"0.6067590309594577"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078"]
["C3888081","L-2-hydroxyglutaric acidemia",943,2,"0.993142425952035"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193","   Skin and Connective Tissue Diseases"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193","   Nutritional and Metabolic Diseases"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193","   Pathological Conditions, Signs and Symptoms"]
["C2936859","N syndrome",939,2,"0.9958996947077335"]
["C0796275","Brunner Syndrome",935,2,"1.0","   Nervous System Diseases"]
["C0796275","Brunner Syndrome",935,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796275","Brunner Syndrome",935,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0796275","Brunner Syndrome",935,2,"1.0","   Behavior and Behavior Mechanisms"]
["C0796275","Brunner Syndrome",935,2,"1.0","   Mental Disorders"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669","   Hemic and Lymphatic Diseases"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489","   Hemic and Lymphatic Diseases"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2608083","Cholestasis, benign recurrent intrahepatic 2",932,2,"0.9994309680168438","   Digestive System Diseases"]
["C3489789","Cholestasis, Progressive Familial Intrahepatic, 2",932,2,"0.9994311095138338","   Digestive System Diseases"]
["C3549845","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",931,2,"1.0"]
["C4025019","Intrahepatic cholestasis with episodic jaundice",931,2,"1.0"]
["C0745744","End Stage Liver Disease",928,2,"0.9250287157626629","   Digestive System Diseases"]
["C2936476","Chronic Liver Failure",928,2,"0.9279305560035096","   Digestive System Diseases"]
["C3275685","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2",927,2,"1.0"]
["C3275686","CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY",927,2,"1.0"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823","   Nervous System Diseases"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823","   Eye Diseases"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823","   Immune System Diseases"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733","   Nervous System Diseases"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733","   Nutritional and Metabolic Diseases"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","   Respiratory Tract Diseases"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","   Nervous System Diseases"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","   Pathological Conditions, Signs and Symptoms"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","   Behavior and Behavior Mechanisms"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416","   Mental Disorders"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715","   Eye Diseases"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188","   Hemic and Lymphatic Diseases"]
["C0014458","Eosinophilia, Tropical",919,2,"0.6779891694267985","   Hemic and Lymphatic Diseases"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Musculoskeletal Diseases"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Nervous System Diseases"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Pathological Conditions, Signs and Symptoms"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Behavior and Behavior Mechanisms"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183","   Mental Disorders"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063","   Musculoskeletal Diseases"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063","   Nervous System Diseases"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063","   Endocrine System Diseases"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872","   Musculoskeletal Diseases"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872","   Nervous System Diseases"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3888212","SECKEL SYNDROME 4",911,2,"0.4686864890208793"]
["C3553582","SECKEL SYNDROME 6",910,2,"0.8360149084189106"]
["C3891452","SECKEL SYNDROME 8",910,2,"0.8086943833531022"]
["C0007930","Chagas Cardiomyopathy",909,2,"0.7229817457473199","   Cardiovascular Diseases"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146","   Nutritional and Metabolic Diseases"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","   Musculoskeletal Diseases"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534","   Musculoskeletal Diseases"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364","   Hemic and Lymphatic Diseases"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3277076","BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",901,2,"0.9772185373047375"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0","   Neoplasms"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0","   Musculoskeletal Diseases"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C4225248","SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",898,2,"1.0"]
["C0796221","MENTAL RETARDATION, X-LINKED 15",890,2,"0.9946567719011925"]
["C3887959","MENTAL RETARDATION, X-LINKED 49",890,2,"0.9952526709315459"]
["C1835928","CARDIOMYOPATHY, DILATED, 1P",889,2,"0.9937171881860674","   Cardiovascular Diseases"]
["C3151265","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",889,2,"0.9938162969982599"]
["C0920646","Ischemia of kidney",888,2,"0.23747759747484204"]
["C0920715","Myocardial hypoxia",888,2,"0.18202164255493047"]
["C0031030","Periapical Periodontitis",887,2,"0.40992645799122546","   Stomatognathic Diseases"]
["C0524686","Periodontitis, Acute Nonsuppurative",887,2,"0.2635987595030968","   Stomatognathic Diseases"]
["C3150344","HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",884,2,"0.5966922944141666"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875","   Nervous System Diseases"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875","   Skin and Connective Tissue Diseases"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875","   Nutritional and Metabolic Diseases"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","   Nervous System Diseases"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","   Skin and Connective Tissue Diseases"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","   Nutritional and Metabolic Diseases"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863","   Nervous System Diseases"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863","   Skin and Connective Tissue Diseases"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863","   Nutritional and Metabolic Diseases"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127","   Nervous System Diseases"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127","   Pathological Conditions, Signs and Symptoms"]
["C3280976","Thrombophilia due to Thrombomodulin Defect",879,2,"0.6083443841351104","   Hemic and Lymphatic Diseases"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0","   Nervous System Diseases"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3553944","USHER SYNDROME, TYPE IJ",877,2,"1.0"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0","   Musculoskeletal Diseases"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0","   Musculoskeletal Diseases"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0","   Nervous System Diseases"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Nervous System Diseases"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1860157","Elejalde Disease",872,2,"1.0","   Nervous System Diseases"]
["C1860157","Elejalde Disease",872,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860157","Elejalde Disease",872,2,"1.0","   Skin and Connective Tissue Diseases"]
["C1860157","Elejalde Disease",872,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568","   Nervous System Diseases"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4049342","Foot osteomyelitis",870,2,"0.693176807610238"]
["C0405578","Gigantism and acromegaly",867,2,"1.0"]
["C4521132","ACROMEGALY DUE TO PITUITARY ADENOMA 1",867,2,"1.0"]
["C2676439","USHER SYNDROME, TYPE IIB, FORMERLY",866,2,"0.9999999999999983"]
["C3148929","USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",866,2,"0.9999999999999983"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0","   Digestive System Diseases"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0","   Nervous System Diseases"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0","   Digestive System Diseases"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0","   Nervous System Diseases"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0","   Nervous System Diseases"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0","   Nervous System Diseases"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","   Otorhinolaryngologic Diseases"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","   Nervous System Diseases"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","   Eye Diseases"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829","   Pathological Conditions, Signs and Symptoms"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","   Otorhinolaryngologic Diseases"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","   Nervous System Diseases"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","   Eye Diseases"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106","   Pathological Conditions, Signs and Symptoms"]
["C0040127","Thyroid Crisis",856,2,"0.5493164845774884","   Endocrine System Diseases"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836","   Otorhinolaryngologic Diseases"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836","   Nervous System Diseases"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836","   Pathological Conditions, Signs and Symptoms"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115","   Nutritional and Metabolic Diseases"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115","   Endocrine System Diseases"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921","   Endocrine System Diseases"]
["C4023211","Adrenocorticotropin deficient adrenal insufficiency",854,2,"0.32252306691722366"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384"]
["C4014425","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",853,2,"1.0"]
["C4016748","CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC",853,2,"1.0"]
["C3539003","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",849,2,"0.7320508075688765"]
["C3809470","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",849,2,"0.8472422208337105"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633","   Nutritional and Metabolic Diseases"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711","   Nutritional and Metabolic Diseases"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0","   Eye Diseases"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751309","Achromatopsia 5",847,2,"1.0","   Nervous System Diseases"]
["C2751309","Achromatopsia 5",847,2,"1.0","   Eye Diseases"]
["C2751309","Achromatopsia 5",847,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751309","Achromatopsia 5",847,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2680446","SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",846,2,"1.0"]
["C3280371","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4",846,2,"1.0"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Nervous System Diseases"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Nutritional and Metabolic Diseases"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Nervous System Diseases"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853","   Nutritional and Metabolic Diseases"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0","   Nervous System Diseases"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3164344","Adult onset autosomal dominant leukodystrophy",840,2,"1.0"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0","   Eye Diseases"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867326","RETINAL CONE DYSTROPHY 1",838,2,"1.0","   Eye Diseases"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0","   Cardiovascular Diseases"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0","   Skin and Connective Tissue Diseases"]
["C4014831","VESICOURETERAL REFLUX 8",837,2,"1.0"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0","   Musculoskeletal Diseases"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0","   Nervous System Diseases"]
["C3151293","CARDIOMYOPATHY, DILATED, 1HH",834,2,"1.0"]
["C0023308","Lens Diseases",831,2,"0.3716897644346344","   Eye Diseases"]
["C1854065","LATE-ONSET RETINAL DEGENERATION (disorder)",831,2,"0.618030620635236","   Eye Diseases"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","   Nervous System Diseases"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","   Eye Diseases"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","   Male Urogenital Diseases"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Respiratory Tract Diseases"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Nervous System Diseases"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Male Urogenital Diseases"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743","   Musculoskeletal Diseases"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0677659","Gastro-esophageal reflux disease with esophagitis",819,2,"0.5747628024909952"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797","   Nutritional and Metabolic Diseases"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277","   Musculoskeletal Diseases"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Musculoskeletal Diseases"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Stomatognathic Diseases"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Eye Diseases"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Skin and Connective Tissue Diseases"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209","   Pathological Conditions, Signs and Symptoms"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0","   Musculoskeletal Diseases"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0","   Nervous System Diseases"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0","   Endocrine System Diseases"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0","   Musculoskeletal Diseases"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994","   Nervous System Diseases"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994","   Cardiovascular Diseases"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994","   Nervous System Diseases"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994","   Cardiovascular Diseases"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0270853","Juvenile Myoclonic Epilepsy",805,2,"0.8183164185537508","   Nervous System Diseases"]
["C0393676","Panayiotopoulos Syndrome",805,2,"0.773773876807001","   Nervous System Diseases"]
["C3544092","Urgency frequency syndrome",804,2,"0.9983310779247285"]
["C4020898","Overactive bladder syndrome",804,2,"0.99833219605315"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408","   Male Urogenital Diseases"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408","   Pathological Conditions, Signs and Symptoms"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117","   Male Urogenital Diseases"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117","   Female Urogenital Diseases and Pregnancy Complications"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117","   Pathological Conditions, Signs and Symptoms"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0","   Musculoskeletal Diseases"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0","   Stomatognathic Diseases"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Neoplasms"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Nervous System Diseases"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Eye Diseases"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Male Urogenital Diseases"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Endocrine System Diseases"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0206526","Tuberculosis, Multidrug-Resistant",801,2,"0.5857143019959369","   Infections"]
["C2959467","Tuberculous pleural effusion",801,2,"0.6220428423581812"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0","   Eye Diseases"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151440","PITUITARY HORMONE DEFICIENCY, COMBINED, 6",797,2,"1.0"]
["C3150819","RETINITIS PIGMENTOSA 56",796,2,"0.839130207283061"]
["C4015343","MACULAR DYSTROPHY, VITELLIFORM, 5",796,2,"0.7058832043421653"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","   Otorhinolaryngologic Diseases"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","   Nervous System Diseases"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","   Eye Diseases"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767","   Pathological Conditions, Signs and Symptoms"]
["C3151138","RETINITIS PIGMENTOSA 39 (disorder)",790,2,"0.9034325027409735"]
["C0393738","Chronic tension-type headache",787,2,"1.0"]
["C0522254","Analgesic Overuse Headache",787,2,"1.0","   Nervous System Diseases"]
["C3554047","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",786,2,"1.0"]
["C4015671","LONG QT SYNDROME 14",786,2,"1.0"]
["C0030326","Panniculitis",781,2,"0.22850361610122386","   Skin and Connective Tissue Diseases"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064","   Skin and Connective Tissue Diseases"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064","   Immune System Diseases"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064","   Chemically-Induced Disorders"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946","   Cardiovascular Diseases"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946","   Pathological Conditions, Signs and Symptoms"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679","   Cardiovascular Diseases"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679","   Pathological Conditions, Signs and Symptoms"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0","   Cardiovascular Diseases"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C3810401","ATRIAL STANDSTILL 2",779,2,"1.0"]
["C0340489","Lone atrial fibrillation",775,2,"0.20797013810246612"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702","   Cardiovascular Diseases"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702","   Pathological Conditions, Signs and Symptoms"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","   Musculoskeletal Diseases"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","   Nervous System Diseases"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","   Nutritional and Metabolic Diseases"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0","   Cardiovascular Diseases"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0","   Cardiovascular Diseases"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125","   Cardiovascular Diseases"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125","   Pathological Conditions, Signs and Symptoms"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393","   Cardiovascular Diseases"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393","   Pathological Conditions, Signs and Symptoms"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836","   Nervous System Diseases"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836","   Cardiovascular Diseases"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836","   Skin and Connective Tissue Diseases"]
["C3887654","POLYARTERITIS NODOSA, CHILDHOOD-ONSET",758,2,"0.9992679579442352"]
["C0220754","Biotinidase Deficiency",750,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0220754","Biotinidase Deficiency",750,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1854698","Multiple Carboxylase Deficiency, Juvenile-Onset",750,2,"1.0"]
["C0014852","Esophageal Diseases",748,2,"0.6611022496549224","   Digestive System Diseases"]
["C0085648","Synovial Cyst",748,2,"0.5884721565011979","   Neoplasms"]
["C0010398","Cruveilhier-Baumgarten Syndrome",747,2,"0.25302478234126086","   Digestive System Diseases"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364","   Digestive System Diseases"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471","   Nervous System Diseases"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4014700","ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",744,2,"0.9985938757440144"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699","   Nervous System Diseases"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699","   Nutritional and Metabolic Diseases"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956","   Nervous System Diseases"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956","   Nutritional and Metabolic Diseases"]
["C0020473","Hyperlipidemia",741,2,"0.416870097433047","   Nutritional and Metabolic Diseases"]
["C0020476","Hyperlipoproteinemias",741,2,"0.5276146831771171","   Nutritional and Metabolic Diseases"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","   Otorhinolaryngologic Diseases"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","   Nervous System Diseases"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","   Pathological Conditions, Signs and Symptoms"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078","   Otorhinolaryngologic Diseases"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078","   Nervous System Diseases"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078","   Pathological Conditions, Signs and Symptoms"]
["C0205700","Asymmetric Septal Hypertrophy",732,2,"0.7739861564546344"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524","   Cardiovascular Diseases"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878","   Musculoskeletal Diseases"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878","   Nervous System Diseases"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715","   Musculoskeletal Diseases"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715","   Nervous System Diseases"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151","   Musculoskeletal Diseases"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151","   Nervous System Diseases"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1858763","Cardiomyopathy, Dilated, 1g",729,2,"0.9999999999997151","   Cardiovascular Diseases"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627","   Cardiovascular Diseases"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215","   Musculoskeletal Diseases"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215","   Nervous System Diseases"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215","   Cardiovascular Diseases"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932","   Nervous System Diseases"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932","   Nutritional and Metabolic Diseases"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932","   Nervous System Diseases"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932","   Nutritional and Metabolic Diseases"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089","   Nervous System Diseases"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089","   Nutritional and Metabolic Diseases"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727","   Nervous System Diseases"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727","   Nutritional and Metabolic Diseases"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1839413","Pyruvate Dehydrogenase E1 Alpha Deficiency",721,2,"1.0","   Nutritional and Metabolic Diseases"]
["C0410445","Osteomalacia secondary to drug",712,2,"0.4864035305026815"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533","   Pathological Conditions, Signs and Symptoms"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","   Musculoskeletal Diseases"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","   Male Urogenital Diseases"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3150652","FANCONI RENOTUBULAR SYNDROME 2",711,2,"1.0"]
["C4310232","Hypercalcemia, Infantile, 1",710,2,"0.7669843524860251","   Nutritional and Metabolic Diseases"]
["C4310473","Hypercalcemia, infantile, 2",710,2,"0.20583087736403713","   Nutritional and Metabolic Diseases"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734","   Nutritional and Metabolic Diseases"]
["C0026141","Milk-Alkali Syndrome",709,2,"0.8043957909327021","   Nutritional and Metabolic Diseases"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","   Digestive System Diseases"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411","   Digestive System Diseases"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761","   Female Urogenital Diseases and Pregnancy Complications"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761","   Chemically-Induced Disorders"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809","   Female Urogenital Diseases and Pregnancy Complications"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809","   Chemically-Induced Disorders"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552"]
["C1863512","HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",704,2,"0.9884476400487494","   Nutritional and Metabolic Diseases"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147","   Nervous System Diseases"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147","   Nutritional and Metabolic Diseases"]
["C0006277","Bronchitis",700,2,"0.9938496747180657","   Respiratory Tract Diseases"]
["C0149514","Acute bronchitis",700,2,"0.9938503080083153"]
["C4014722","STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",699,2,"1.0"]
["C4040879","STING-associated vasculopathy with onset in infancy",699,2,"1.0"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292","   Skin and Connective Tissue Diseases"]
["C3665704","Congenital reticular ichthyosiform erythroderma",698,2,"0.6975931161326213"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379","   Skin and Connective Tissue Diseases"]
["C1862005","Epidermolytic Hyperkeratosis, Late-Onset",697,2,"0.8995467019257061"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234","   Skin and Connective Tissue Diseases"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711","   Skin and Connective Tissue Diseases"]
["C0596992","myelinopathy",693,2,"0.7218266850127371"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741","   Nervous System Diseases"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178","   Nervous System Diseases"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3551756","NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT",692,2,"0.9615248209387778"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398","   Nervous System Diseases"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285","   Nervous System Diseases"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956","   Skin and Connective Tissue Diseases"]
["C3553549","POROKERATOSIS 7, MULTIPLE TYPES",686,2,"0.5835054583215198"]
["C0011303","Demyelinating Diseases",685,2,"0.7752290377018304","   Nervous System Diseases"]
["C2350037","Clinically Isolated Syndrome, CNS Demyelinating",685,2,"0.7423947339652351","   Nervous System Diseases"]
["C0521736","Lower eyelid ectropion",676,2,"0.3445350331475028"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341","   Musculoskeletal Diseases"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341","   Stomatognathic Diseases"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341","   Eye Diseases"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172","   Nutritional and Metabolic Diseases"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172","   Pathological Conditions, Signs and Symptoms"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465","   Nutritional and Metabolic Diseases"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465","   Pathological Conditions, Signs and Symptoms"]
["C0038826","Superinfection",672,2,"0.4660447112480546","   Infections"]
["C0375021","Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",672,2,"0.5591932666714367"]
["C0024266","Lymphocytic Choriomeningitis",671,2,"0.7779065358730058","   Nervous System Diseases"]
["C0153014","Non-arthropod borne lymphocytic choriomeningitis",671,2,"0.8001508084484671"]
["C0038362","Stomatitis",664,2,"0.8475133864211715","   Stomatognathic Diseases"]
["C1568868","Oral Mucositis",664,2,"0.8350957420433578","   Stomatognathic Diseases"]
["C0271826","Iodide transport defect",663,2,"0.6882466465469741"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907","   Musculoskeletal Diseases"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907","   Endocrine System Diseases"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754","   Endocrine System Diseases"]
["C4020805","Athyroidal hypothyroidism",661,2,"0.5241414839373812"]
["C0268193","NADH cytochrome B5 reductase deficiency",659,2,"0.4036750004034327","   Hemic and Lymphatic Diseases"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915","   Nervous System Diseases"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915","   Nutritional and Metabolic Diseases"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162","   Hemic and Lymphatic Diseases"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272320","Hereditary factor VII deficiency disease",655,2,"0.9809362143502084"]
["C0034734","Raynaud Disease",654,2,"0.9999999999999978","   Cardiovascular Diseases"]
["C0034735","Raynaud Phenomenon",654,2,"0.9999999999999978","   Cardiovascular Diseases"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457","   Digestive System Diseases"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457","   Nutritional and Metabolic Diseases"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479","   Digestive System Diseases"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479","   Nutritional and Metabolic Diseases"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878","   Cardiovascular Diseases"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878","   Hemic and Lymphatic Diseases"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878","   Skin and Connective Tissue Diseases"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588","   Hemic and Lymphatic Diseases"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0008533","Hemophilia B",642,2,"0.966245300359561","   Hemic and Lymphatic Diseases"]
["C0008533","Hemophilia B",642,2,"0.966245300359561","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254","   Hemic and Lymphatic Diseases"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875","   Hemic and Lymphatic Diseases"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322","   Hemic and Lymphatic Diseases"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","   Nervous System Diseases"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","   Eye Diseases"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","   Pathological Conditions, Signs and Symptoms"]
["C3810365","Central visual impairment",638,2,"0.9776886371551199"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479","   Nervous System Diseases"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479","   Eye Diseases"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479","   Pathological Conditions, Signs and Symptoms"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","   Musculoskeletal Diseases"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","   Nervous System Diseases"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","   Cardiovascular Diseases"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","   Nutritional and Metabolic Diseases"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751288","Neutropenia, Severe Congenital, Autosomal Dominant 2",634,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789","   Endocrine System Diseases"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789","   Immune System Diseases"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","   Nutritional and Metabolic Diseases"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","   Endocrine System Diseases"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","   Immune System Diseases"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522","   Pathological Conditions, Signs and Symptoms"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","   Nervous System Diseases"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","   Nutritional and Metabolic Diseases"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","   Chemically-Induced Disorders"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","   Mental Disorders"]
["C4310751","SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",632,2,"0.8423192739130502"]
["C0154841","Central retinal vein occlusion",630,2,"1.0"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0","   Musculoskeletal Diseases"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433","   Infections"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433","   Eye Diseases"]
["C0155119","Recurrent erosion of cornea",629,2,"0.2650551126554656"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834","   Nervous System Diseases"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834","   Nutritional and Metabolic Diseases"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201","   Nutritional and Metabolic Diseases"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201","   Immune System Diseases"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271","   Nutritional and Metabolic Diseases"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271","   Immune System Diseases"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634","   Digestive System Diseases"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634","   Chemically-Induced Disorders"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193","   Digestive System Diseases"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193","   Chemically-Induced Disorders"]
["C0155241","Lacrimal mucocele",621,2,"0.7862345793723479"]
["C1867060","Lacrimal Puncta, Absence of",621,2,"0.6146774849779518","   Eye Diseases"]
["C0015302","External exotoses",618,2,"0.6444798448047331"]
["C0432282","Dysplasia epiphysealis hemimelica",618,2,"0.7963893485560049","   Musculoskeletal Diseases"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828","   Musculoskeletal Diseases"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828","   Nutritional and Metabolic Diseases"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489","   Musculoskeletal Diseases"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489","   Nutritional and Metabolic Diseases"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801","   Eye Diseases"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801","   Cardiovascular Diseases"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Neoplasms"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Musculoskeletal Diseases"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Nervous System Diseases"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Eye Diseases"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Nutritional and Metabolic Diseases"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602","   Pathological Conditions, Signs and Symptoms"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775","   Stomatognathic Diseases"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291","   Stomatognathic Diseases"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0730290","Cone dystrophy",609,2,"0.8513923630406093"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007","   Eye Diseases"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339","   Digestive System Diseases"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339","   Cardiovascular Diseases"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754","   Digestive System Diseases"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754","   Cardiovascular Diseases"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072","   Musculoskeletal Diseases"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930971","Acroosteolysis dominant type",607,2,"0.9987308376921606","   Musculoskeletal Diseases"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235","   Musculoskeletal Diseases"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305","   Musculoskeletal Diseases"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539","   Musculoskeletal Diseases"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009","   Skin and Connective Tissue Diseases"]
["C0043345","Xeroderma",601,2,"0.1663235688718565","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0043345","Xeroderma",601,2,"0.1663235688718565","   Skin and Connective Tissue Diseases"]
["C2930996","Muscular dystrophy, tardive Emery-Dreifuss type, with contractures",595,2,"1.0"]
["C4023180","Type 1 muscle fiber atrophy",595,2,"1.0"]
["C3890205","Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative",591,2,"0.999653788395011"]
["C3898105","Oligoarticular Juvenile Idiopathic Arthritis",591,2,"0.9996546390765393"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0","   Musculoskeletal Diseases"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0","   Musculoskeletal Diseases"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878","   Musculoskeletal Diseases"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663","   Musculoskeletal Diseases"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265345","Lymphedema distichiasis syndrome",583,2,"1.0","   Hemic and Lymphatic Diseases"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0","   Male Urogenital Diseases"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0","   Hemic and Lymphatic Diseases"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0","   Nutritional and Metabolic Diseases"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0","   Endocrine System Diseases"]
["C4225315","RETINITIS PIGMENTOSA 72",581,2,"1.0"]
["C4225316","EXUDATIVE VITREORETINOPATHY 6",581,2,"1.0"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0","   Eye Diseases"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3151060","Macular Degeneration, Age-Related, 6",580,2,"1.0","   Eye Diseases"]
["C0271093","Stargardt\\'s disease",574,2,"0.974571387466299","   Eye Diseases"]
["C1855465","STARGARDT DISEASE 1 (disorder)",574,2,"0.9748124424696775","   Eye Diseases"]
["C4021559","Retinitis pigmentosa inversa",573,2,"0.7487472823872741"]
["C4282180","Juvenile macular degeneration",573,2,"0.4479718180457302","   Eye Diseases"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204","   Nervous System Diseases"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204","   Eye Diseases"]
["C4020734","Nystagmus, continuous pendular",570,2,"0.6720572290839278"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085","   Nervous System Diseases"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085","   Eye Diseases"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085","   Pathological Conditions, Signs and Symptoms"]
["C3887980","COLORBLINDNESS, PARTIAL, PROTAN SERIES",568,2,"0.5912784469348508"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","   Nervous System Diseases"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","   Eye Diseases"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","   Pathological Conditions, Signs and Symptoms"]
["C0858618","Dyschromatopsia",567,2,"0.6626440512016597"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996","   Nervous System Diseases"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996","   Nervous System Diseases"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0","   Hemic and Lymphatic Diseases"]
["C1856719","Kininogen Deficiency, Total",560,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161","   Cardiovascular Diseases"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161","   Skin and Connective Tissue Diseases"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161","   Immune System Diseases"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646","   Cardiovascular Diseases"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646","   Skin and Connective Tissue Diseases"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646","   Immune System Diseases"]
["C3151078","Complement Component C1s Deficiency",556,2,"1.0","   Immune System Diseases"]
["C4310681","EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",556,2,"1.0"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028","   Nutritional and Metabolic Diseases"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028","   Endocrine System Diseases"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028","   Immune System Diseases"]
["C1960272","Latent autoimmune diabetes mellitus in adult",555,2,"0.5755643200635913"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0","   Endocrine System Diseases"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0","   Immune System Diseases"]
["C4015214","CTLA4 Haploinsufficiency",554,2,"1.0"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0","   Musculoskeletal Diseases"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0","   Endocrine System Diseases"]
["C3887639","Autoimmune gastritis",553,2,"1.0"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Musculoskeletal Diseases"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Nervous System Diseases"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Pathological Conditions, Signs and Symptoms"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Behavior and Behavior Mechanisms"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259","   Mental Disorders"]
["C1843003","MITRAL VALVE PROLAPSE, MYXOMATOUS 2",550,2,"0.7745867661635375","   Cardiovascular Diseases"]
["C3809875","VAN MALDERGEM SYNDROME 2",549,2,"1.0"]
["C4014939","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2",549,2,"1.0"]
["C3150898","CARDIOMYOPATHY, DILATED, 1GG",546,2,"1.0"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0"]
["C0270786","Binswanger Disease",545,2,"1.0","   Nervous System Diseases"]
["C0270786","Binswanger Disease",545,2,"1.0","   Cardiovascular Diseases"]
["C0270786","Binswanger Disease",545,2,"1.0","   Mental Disorders"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0","   Nervous System Diseases"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0","   Cardiovascular Diseases"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0","   Mental Disorders"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0","   Nervous System Diseases"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0","   Cardiovascular Diseases"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0","   Mental Disorders"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0","   Nervous System Diseases"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0","   Cardiovascular Diseases"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0","   Mental Disorders"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","   Eye Diseases"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","   Cardiovascular Diseases"]
["C4476521","Renal glomerular fibrosis",539,2,"0.5796800734151006"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552","   Cardiovascular Diseases"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552","   Wounds and Injuries"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438","   Cardiovascular Diseases"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438","   Wounds and Injuries"]
["C0020550","Hyperthyroidism",533,2,"0.5310963689084658","   Endocrine System Diseases"]
["C3714618","Primary Hyperthyroidism",533,2,"0.49638561391152536","   Endocrine System Diseases"]
["C0022593","Keratosis",532,2,"0.9765912444509646","   Skin and Connective Tissue Diseases"]
["C0022594","Keratosis Blennorrhagica",532,2,"0.9810459660205855","   Skin and Connective Tissue Diseases"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688","   Endocrine System Diseases"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688","   Immune System Diseases"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777","   Endocrine System Diseases"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777","   Immune System Diseases"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089","   Endocrine System Diseases"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089","   Immune System Diseases"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432","   Endocrine System Diseases"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432","   Immune System Diseases"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773","   Male Urogenital Diseases"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773","   Female Urogenital Diseases and Pregnancy Complications"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945","   Nervous System Diseases"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945","   Animal Diseases"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0","   Immune System Diseases"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0","   Chemically-Induced Disorders"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0","   Skin and Connective Tissue Diseases"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0","   Immune System Diseases"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0","   Chemically-Induced Disorders"]
["C3553330","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",519,2,"0.9233168059257613"]
["C4015095","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",519,2,"0.9339192086255407"]
["C3808964","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",517,2,"0.9577822444510047"]
["C4015184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",517,2,"0.9623600204742797"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Musculoskeletal Diseases"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Nervous System Diseases"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Pathological Conditions, Signs and Symptoms"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Behavior and Behavior Mechanisms"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292","   Mental Disorders"]
["C3150414","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6",516,2,"0.7046555751397945"]
["C0033626","Protein Deficiency",510,2,"0.6459081826906153","   Nutritional and Metabolic Diseases"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303","   Male Urogenital Diseases"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303","   Female Urogenital Diseases and Pregnancy Complications"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303","   Pathological Conditions, Signs and Symptoms"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763","   Nervous System Diseases"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763","   Cardiovascular Diseases"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763","   Skin and Connective Tissue Diseases"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763","   Immune System Diseases"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158","   Nervous System Diseases"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158","   Cardiovascular Diseases"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158","   Skin and Connective Tissue Diseases"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158","   Immune System Diseases"]
["C3553720","CFHR5 DEFICIENCY",508,2,"0.6198948742524636"]
["C4055342","C3 Glomerulonephritis",508,2,"0.24228411941257433"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357","   Stomatognathic Diseases"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656","   Stomatognathic Diseases"]
["C3150215","CHROMOSOME 6q24-q25 DELETION SYNDROME",504,2,"1.0"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977","   Neoplasms"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977","   Nervous System Diseases"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977","   Pathological Conditions, Signs and Symptoms"]
["C2609260","Caudal dysplasia syndrome",502,2,"0.4903697787021711"]
["C0236124","Gastrointestinal obstruction",501,2,"1.0"]
["C1867775","Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation",501,2,"1.0"]
["C2674127","LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)",497,2,"1.0"]
["C2931764","Furlong syndrome",497,2,"1.0"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0","   Musculoskeletal Diseases"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0","   Nervous System Diseases"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3275356","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",492,2,"1.0"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Nervous System Diseases"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Eye Diseases"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Cardiovascular Diseases"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Pathological Conditions, Signs and Symptoms"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Behavior and Behavior Mechanisms"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158","   Mental Disorders"]
["C3698541","Ohdo syndrome, Maat-Kievit-Brunner type",491,2,"0.9805706382908068"]
["C0271642","Fibrocalculous pancreatic diabetes",483,2,"0.8024504376285998"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229","   Digestive System Diseases"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229","   Nutritional and Metabolic Diseases"]
["C0036130","Salpingitis",480,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0340238","Infectious disorder of bronchus",480,2,"1.0"]
["C3279947","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",478,2,"0.8876140883947304"]
["C3279974","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",478,2,"0.9213497530746388"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727","   Infections"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727","   Respiratory Tract Diseases"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084","   Infections"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084","   Respiratory Tract Diseases"]
["C1842026","GLAUCOMA 1, OPEN ANGLE, E",472,2,"1.0","   Eye Diseases"]
["C3150692","AMYOTROPHIC LATERAL SCLEROSIS 12",472,2,"1.0"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307","   Eye Diseases"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0423325","Ectropion uveae",468,2,"0.2931796476185303"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739","   Male Urogenital Diseases"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739","   Female Urogenital Diseases and Pregnancy Complications"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739","   Nutritional and Metabolic Diseases"]
["C3854315","Pseudoprimary hyperaldosteronism",466,2,"0.6278966923236721"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319","   Cardiovascular Diseases"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319","   Hemic and Lymphatic Diseases"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319","   Skin and Connective Tissue Diseases"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164","   Cardiovascular Diseases"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164","   Hemic and Lymphatic Diseases"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164","   Skin and Connective Tissue Diseases"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522","   Musculoskeletal Diseases"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522","   Skin and Connective Tissue Diseases"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266","   Musculoskeletal Diseases"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266","   Skin and Connective Tissue Diseases"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731","   Cardiovascular Diseases"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731","   Hemic and Lymphatic Diseases"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731","   Skin and Connective Tissue Diseases"]
["C0268360","Osteogenesis imperfecta, recessive perinatal lethal",462,2,"0.6800758704992528"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732","   Skin and Connective Tissue Diseases"]
["C2930812","Generalized elastolysis",460,2,"0.6973716491077706"]
["C1394691","Bowel diverticula",456,2,"0.9999999999999993"]
["C1395674","Bowel diverticulosis",456,2,"0.9999999999999993"]
["C0003499","Supravalvular aortic stenosis",455,2,"0.6775986019638545","   Cardiovascular Diseases"]
["C1305147","Congenital supravalvular aortic stenosis",455,2,"0.6875930283334726"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965","   Skin and Connective Tissue Diseases"]
["C3276539","CUTIS LAXA, AUTOSOMAL DOMINANT 1",454,2,"0.38907494172645524"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577","   Eye Diseases"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615","   Eye Diseases"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773","   Musculoskeletal Diseases"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773","   Eye Diseases"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773","   Skin and Connective Tissue Diseases"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128","   Musculoskeletal Diseases"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128","   Eye Diseases"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128","   Skin and Connective Tissue Diseases"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732","   Eye Diseases"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243","   Musculoskeletal Diseases"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243","   Eye Diseases"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243","   Skin and Connective Tissue Diseases"]
["C1856441","Late onset congenital glaucoma",446,2,"1.0"]
["C4310623","ANTERIOR SEGMENT DYSGENESIS 6",446,2,"1.0"]
["C1533041","Primary congenital glaucoma",443,2,"0.8045052695033835"]
["C1832977","GLAUCOMA 3, PRIMARY INFANTILE, B",443,2,"0.8418411033992419","   Eye Diseases"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268","   Neoplasms"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268","   Male Urogenital Diseases"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268","   Female Urogenital Diseases and Pregnancy Complications"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1856184","HEMIHYPERPLASIA, ISOLATED",441,2,"0.08434478187202335","   Pathological Conditions, Signs and Symptoms"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","   Male Urogenital Diseases"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","   Female Urogenital Diseases and Pregnancy Complications"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","   Endocrine System Diseases"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","   Male Urogenital Diseases"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","   Female Urogenital Diseases and Pregnancy Complications"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","   Endocrine System Diseases"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757","   Hemic and Lymphatic Diseases"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757","   Pathological Conditions, Signs and Symptoms"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005","   Hemic and Lymphatic Diseases"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005","   Pathological Conditions, Signs and Symptoms"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786","   Nervous System Diseases"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786","   Cardiovascular Diseases"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786","   Nutritional and Metabolic Diseases"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506","   Nervous System Diseases"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506","   Cardiovascular Diseases"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506","   Nutritional and Metabolic Diseases"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208","   Hemic and Lymphatic Diseases"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208","   Nutritional and Metabolic Diseases"]
["C0240066","Iron deficiency",431,2,"0.1532600255712564"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","   Digestive System Diseases"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","   Skin and Connective Tissue Diseases"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","   Nutritional and Metabolic Diseases"]
["C1276127","Sporadic porphyria cutanea tarda",430,2,"0.5563569852247574"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045","   Nutritional and Metabolic Diseases"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419","   Nutritional and Metabolic Diseases"]
["C0017086","Gangrene",426,2,"0.5899649644787076","   Pathological Conditions, Signs and Symptoms"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093","   Cardiovascular Diseases"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093","   Skin and Connective Tissue Diseases"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649","   Nervous System Diseases"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649","   Mental Disorders"]
["C3150958","Cardiomyopathy, Dilated, 1V",419,2,"0.8644843533259763","   Cardiovascular Diseases"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219","   Cardiovascular Diseases"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219","   Pathological Conditions, Signs and Symptoms"]
["C1841659","Atrioventricular nodal disease",418,2,"0.44628644725636907"]
["C1969115","GALLBLADDER DISEASE 4",417,2,"0.5070206533678672","   Digestive System Diseases"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653","   Digestive System Diseases"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653","   Nutritional and Metabolic Diseases"]
["C1848486","Premature arteriosclerosis",415,2,"0.9999999999999967"]
["C4280503","Premature hardening of arteries",415,2,"0.9999999999999967"]
["C0342881","Familial hypercholesterolemia - homozygous",414,2,"0.9950686441998615"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369","   Nervous System Diseases"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3150972","NEUROPATHY, HEREDITARY SENSORY, TYPE ID",413,2,"0.586520528858976"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443","   Eye Diseases"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443","   Skin and Connective Tissue Diseases"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443","   Nutritional and Metabolic Diseases"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868","   Eye Diseases"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868","   Skin and Connective Tissue Diseases"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868","   Nutritional and Metabolic Diseases"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0","   Musculoskeletal Diseases"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0","   Eye Diseases"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4225412","Spondylo-ocular syndrome",410,2,"1.0"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775","   Nutritional and Metabolic Diseases"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775","   Chemically-Induced Disorders"]
["C0854145","Feeding Disorders",408,2,"0.6376287887875876","   Mental Disorders"]
["C0015930","Fetal Distress",407,2,"0.45256406260740734","   Pathological Conditions, Signs and Symptoms"]
["C0033575","Prostatic Diseases",407,2,"0.27536877547810695","   Male Urogenital Diseases"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265","   Hemic and Lymphatic Diseases"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265","   Immune System Diseases"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894","   Hemic and Lymphatic Diseases"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894","   Immune System Diseases"]
["C0002897","Anemia, Splenic",403,2,"0.5425821165873709","   Hemic and Lymphatic Diseases"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868","   Hemic and Lymphatic Diseases"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253","   Nervous System Diseases"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253","   Eye Diseases"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253","   Immune System Diseases"]
["C0221262","Poliosis",402,2,"0.15104698983732226"]
["C0342680","Klein-Waardenberg\\'s syndrome",400,2,"1.0"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0","   Musculoskeletal Diseases"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0","   Nervous System Diseases"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0079661","Klein\\'s Syndrome",399,2,"0.4695045680263902","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1847800","Waardenburg Syndrome Type 1",399,2,"0.36030594134845584","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Otorhinolaryngologic Diseases"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Nervous System Diseases"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Eye Diseases"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Skin and Connective Tissue Diseases"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Nutritional and Metabolic Diseases"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959","   Pathological Conditions, Signs and Symptoms"]
["C1863198","ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9720885679905467"]
["C0264955","Idiopathic arterial calcification of infancy",392,2,"0.8787091073698305"]
["C1859727","Arterial calcification of infancy",392,2,"0.7463705437855592","   Nutritional and Metabolic Diseases"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","   Musculoskeletal Diseases"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","   Male Urogenital Diseases"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","   Female Urogenital Diseases and Pregnancy Complications"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011","   Nutritional and Metabolic Diseases"]
["C4024631","Renal hypophosphatemia",390,2,"0.4754203404321968"]
["C0518988","Dental abscess",389,2,"1.0"]
["C1282952","Enthesitis",389,2,"1.0"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272","   Nervous System Diseases"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272","   Nutritional and Metabolic Diseases"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924","   Respiratory Tract Diseases"]
["C0340543","Familial primary pulmonary hypertension",384,2,"0.2731814749495957","   Respiratory Tract Diseases"]
["C1701939","Familial pulmonary arterial hypertension",384,2,"0.6003141436099456"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534","   Neoplasms"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534","   Respiratory Tract Diseases"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512","   Respiratory Tract Diseases"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512","   Cardiovascular Diseases"]
["C3887658","PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",381,2,"0.9080891088792171"]
["C0432240","Stuve-Wiedemann dysplasia",379,2,"1.0"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0","   Neoplasms"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0","   Musculoskeletal Diseases"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555","   Musculoskeletal Diseases"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555","   Nervous System Diseases"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849","   Musculoskeletal Diseases"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849","   Nervous System Diseases"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0699741","Benign congenital myopathy",373,2,"0.9972372709231963"]
["C3668940","Dmd-Associated Dilated Cardiomyopathy",373,2,"0.9972120608689411","   Cardiovascular Diseases"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836","   Musculoskeletal Diseases"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836","   Nervous System Diseases"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245","   Nervous System Diseases"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865","   Nutritional and Metabolic Diseases"]
["C2827503","HFE-Associated Hereditary Hemochromatosis",370,2,"0.9134244775840457"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213","   Hemic and Lymphatic Diseases"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271991","delta^0^ Thalassemia",369,2,"0.8883038961902984"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1849158","Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein",362,2,"1.0"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114","   Nutritional and Metabolic Diseases"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114","   Endocrine System Diseases"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114","   Immune System Diseases"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467","   Nutritional and Metabolic Diseases"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467","   Endocrine System Diseases"]
["C0342326","Tumor-induced hypoglycemia",359,2,"1.0"]
["C4225307","GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES",359,2,"1.0"]
["C0014742","Erythema Multiforme",358,2,"0.9947243149110956","   Skin and Connective Tissue Diseases"]
["C3151085","MASP2 Deficiency",358,2,"0.9948802121872607","   Immune System Diseases"]
["C1847835","VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)",357,2,"0.9199535412388848"]
["C4479278","AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS",357,2,"0.9176241837195498"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581","   Hemic and Lymphatic Diseases"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4317320","Factor V deficiency",356,2,"0.4485430979187163"]
["C0393929","Familial infantile myasthenia",352,2,"1.0","   Respiratory Tract Diseases"]
["C0393929","Familial infantile myasthenia",352,2,"1.0","   Nervous System Diseases"]
["C0393929","Familial infantile myasthenia",352,2,"1.0","   Immune System Diseases"]
["C0393929","Familial infantile myasthenia",352,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0","   Nervous System Diseases"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Stomatognathic Diseases"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Nervous System Diseases"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Eye Diseases"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833693","Otodental Dysplasia",341,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0","   Stomatognathic Diseases"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0","   Otorhinolaryngologic Diseases"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0","   Nervous System Diseases"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1840347","HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)",340,2,"1.0","   Nutritional and Metabolic Diseases"]
["C3809243","HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",340,2,"1.0"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","   Neoplasms"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","   Digestive System Diseases"]
["C0271844","Parathyroid hyperplasia",338,2,"0.5993809292643847"]
["C1840394","Parathyroid Adenomatosis, Familial Cystic",336,2,"1.0"]
["C1840403","Parathyroid Adenoma, Familial",336,2,"1.0","   Endocrine System Diseases"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0","   Endocrine System Diseases"]
["C4479229","HYPERPARATHYROIDISM 4",332,2,"1.0"]
["C3715128","HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",329,2,"0.9244236065313127"]
["C4048195","Autosomal dominant hypocalcemia",329,2,"0.9376584870455091"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896","   Nervous System Diseases"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0595948","Atypical absence seizure",328,2,"0.7938951754925483"]
["C2677078","Generalized Epilepsy With Febrile Seizures Plus, Type 6",321,2,"0.1388245210853384"]
["C2677079","Inflammatory Bowel Disease 19",321,2,"0.6789069553318091","   Digestive System Diseases"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725","   Nervous System Diseases"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725","   Pathological Conditions, Signs and Symptoms"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043","   Nervous System Diseases"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043","   Pathological Conditions, Signs and Symptoms"]
["C0391958","Familial Epilepsies",317,2,"1.0","   Nervous System Diseases"]
["C1864987","Migraine, Familial Hemiplegic, 3",317,2,"1.0","   Nervous System Diseases"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418","   Cardiovascular Diseases"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418","   Hemic and Lymphatic Diseases"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418","   Skin and Connective Tissue Diseases"]
["C3150274","COMPLEMENT COMPONENT C1r/C1s DEFICIENCY",315,2,"0.8381970974099762"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0","   Musculoskeletal Diseases"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0","   Stomatognathic Diseases"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0","   Stomatognathic Diseases"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0","   Musculoskeletal Diseases"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0","   Stomatognathic Diseases"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0","   Skin and Connective Tissue Diseases"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Musculoskeletal Diseases"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Stomatognathic Diseases"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Nervous System Diseases"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Skin and Connective Tissue Diseases"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Behavior and Behavior Mechanisms"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0","   Mental Disorders"]
["C0037769","West Syndrome",307,2,"0.470177921914013","   Nervous System Diseases"]
["C3887898","Infantile Spasm",307,2,"0.5792649730881743"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","   Male Urogenital Diseases"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","   Female Urogenital Diseases and Pregnancy Complications"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","   Nutritional and Metabolic Diseases"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","   Endocrine System Diseases"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","   Male Urogenital Diseases"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","   Female Urogenital Diseases and Pregnancy Complications"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","   Endocrine System Diseases"]
["C0342546","Premature adrenarche",304,2,"1.0"]
["C4020713","Penile melanosis",304,2,"1.0"]
["C0003892","Neurogenic arthropathy",302,2,"0.4274246459299818","   Musculoskeletal Diseases"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163"]
["C3809882","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",298,2,"0.7749559668602081"]
["C3809899","EPISODIC PAIN SYNDROME, FAMILIAL, 3",298,2,"0.8911583170629884"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035","   Nervous System Diseases"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035","   Pathological Conditions, Signs and Symptoms"]
["C3151229","FEBRILE SEIZURES, FAMILIAL, 3B",296,2,"0.9715609139633676"]
["C0014805","Primary Erythermalgia",294,2,"1.0","   Cardiovascular Diseases"]
["C1833661","PAROXYSMAL EXTREME PAIN DISORDER",294,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335","   Nervous System Diseases"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996","   Nervous System Diseases"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0008733","Chylothorax",289,2,"0.7325683322546428","   Respiratory Tract Diseases"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536","   Neoplasms"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536","   Nervous System Diseases"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996","   Neoplasms"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996","   Nervous System Diseases"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","   Neoplasms"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","   Nervous System Diseases"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","   Male Urogenital Diseases"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","   Female Urogenital Diseases and Pregnancy Complications"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","   Nervous System Diseases"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","   Endocrine System Diseases"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624","   Nervous System Diseases"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624","   Endocrine System Diseases"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Neoplasms"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Nervous System Diseases"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Eye Diseases"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Male Urogenital Diseases"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Female Urogenital Diseases and Pregnancy Complications"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318","   Endocrine System Diseases"]
["C2931803","Deletion 11p13",279,2,"0.9115534156796891","   Pathological Conditions, Signs and Symptoms"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469","   Endocrine System Diseases"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Musculoskeletal Diseases"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Stomatognathic Diseases"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Nervous System Diseases"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Behavior and Behavior Mechanisms"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0","   Mental Disorders"]
["C3150773","CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME",273,2,"1.0"]
["C0751486","Reye-Like Syndrome",266,2,"1.0","   Digestive System Diseases"]
["C0751486","Reye-Like Syndrome",266,2,"1.0","   Nervous System Diseases"]
["C0751486","Reye-Like Syndrome",266,2,"1.0","   Nutritional and Metabolic Diseases"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0","   Digestive System Diseases"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0","   Female Urogenital Diseases and Pregnancy Complications"]
["C0036651","Senile lentigo",263,2,"0.9635667491119488"]
["C1328931","Multiple lentigines",263,2,"0.9568552516542852"]
["C1959635","Parvovirus B19 (disease)",258,2,"0.9999999999999987"]
["C2062441","Influenza A",258,2,"0.9999999999999987"]
["C0034089","Pulmonary Valve Stenosis",257,2,"0.6379953895721809","   Cardiovascular Diseases"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583","   Neoplasms"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583","   Musculoskeletal Diseases"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2674723","RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER",254,2,"0.21217349147789383"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387","   Musculoskeletal Diseases"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387","   Cardiovascular Diseases"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387","   Skin and Connective Tissue Diseases"]
["C2931732","Familial Paget\\'s disease of bone",251,2,"0.9105113961730806","   Musculoskeletal Diseases"]
["C4085251","PAGET DISEASE OF BONE 2, EARLY-ONSET",251,2,"0.9453216217988855"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694","   Nervous System Diseases"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694","   Nutritional and Metabolic Diseases"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549","   Nervous System Diseases"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549","   Nutritional and Metabolic Diseases"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884","   Musculoskeletal Diseases"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884","   Nervous System Diseases"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619","   Musculoskeletal Diseases"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619","   Nervous System Diseases"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1867610","Macrocephaly mesodermal hamartoma spectrum",244,2,"1.0"]
["C3554519","COWDEN SYNDROME 6",244,2,"1.0"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","   Musculoskeletal Diseases"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","   Respiratory Tract Diseases"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","   Nervous System Diseases"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","   Cardiovascular Diseases"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0","   Musculoskeletal Diseases"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0","   Nervous System Diseases"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0","   Musculoskeletal Diseases"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0","   Nervous System Diseases"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0","   Endocrine System Diseases"]
["C4014479","CULLER-JONES SYNDROME",239,2,"1.0"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","   Nervous System Diseases"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","   Cardiovascular Diseases"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","   Nutritional and Metabolic Diseases"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442","   Immune System Diseases"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","   Nervous System Diseases"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","   Cardiovascular Diseases"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","   Nutritional and Metabolic Diseases"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208","   Immune System Diseases"]
["C1112530","Leukoplakia of oral mucosa, incl tongue",235,2,"0.37552475762219273"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263","   Hemic and Lymphatic Diseases"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263","   Immune System Diseases"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592","   Infections"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592","   Musculoskeletal Diseases"]
["C0264490","Acute respiratory failure",234,2,"0.26144710725229064"]
["C0376532","Epilepsy, Rolandic",231,2,"0.9863768331648847","   Nervous System Diseases"]
["C2363129","Benign Rolandic Epilepsy",231,2,"0.9835612799265155","   Nervous System Diseases"]
["C1264031","Alloimmune thrombocytopenia",229,2,"1.0"]
["C3280114","Glycoprotein IA Deficiency",229,2,"1.0","   Hemic and Lymphatic Diseases"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567","   Eye Diseases"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567","   Cardiovascular Diseases"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713","   Eye Diseases"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713","   Cardiovascular Diseases"]
["C3463916","Complement Factor I (C3 inactivator) deficiency",227,2,"0.9993580970880713","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3809523","MACULAR DEGENERATION, AGE-RELATED, 13",227,2,"0.999362695947115"]
["C1449646","Primary Peritonitis",225,2,"1.0","   Infections"]
["C1449646","Primary Peritonitis",225,2,"1.0","   Digestive System Diseases"]
["C1449647","Secondary Peritonitis",225,2,"1.0","   Infections"]
["C1449647","Secondary Peritonitis",225,2,"1.0","   Digestive System Diseases"]
["C1404521","Limb-girdle myopathy",224,2,"1.0"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614","   Nervous System Diseases"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568","   Nervous System Diseases"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796206","Atkin syndrome",218,2,"1.0","   Nervous System Diseases"]
["C0796206","Atkin syndrome",218,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0","   Nervous System Diseases"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672","   Hemic and Lymphatic Diseases"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521","   Hemic and Lymphatic Diseases"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0","   Nervous System Diseases"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0","   Nervous System Diseases"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0","   Pathological Conditions, Signs and Symptoms"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975","   Nervous System Diseases"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975","   Endocrine System Diseases"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741","   Nervous System Diseases"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741","   Endocrine System Diseases"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682","   Musculoskeletal Diseases"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682","   Nervous System Diseases"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682","   Nutritional and Metabolic Diseases"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854","   Nervous System Diseases"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854","   Immune System Diseases"]
["C0042875","Vitamin E Deficiency",202,2,"0.7260317392737631","   Nutritional and Metabolic Diseases"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042","   Nervous System Diseases"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042","   Nutritional and Metabolic Diseases"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042","   Pathological Conditions, Signs and Symptoms"]
["C0015544","Failure to Thrive",200,2,"0.8155779028014215","   Pathological Conditions, Signs and Symptoms"]
["C4539857","CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME",200,2,"0.8677287779857149"]
["C0746882","Chronic neutropenia",199,2,"0.4265838371316968"]
["C2931027","Neutropenia, severe chronic",199,2,"0.5920100690213788","   Hemic and Lymphatic Diseases"]
["C0272199","Familial Hemophagocytic Lymphocytosis",197,2,"0.8777966363934008","   Hemic and Lymphatic Diseases"]
["C0877564","Lymphohistiocytosis",197,2,"0.7536397048762788"]
["C0155686","Acute myocarditis",196,2,"0.999197085045493"]
["C1863727","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",196,2,"0.999197507327757","   Hemic and Lymphatic Diseases"]
["C0393934","Slow channel syndrome",193,2,"1.0"]
["C0751950","Neuromuscular Junction Diseases",193,2,"1.0","   Nervous System Diseases"]
["C0236811","Chronobiology Disorders",191,2,"0.9982707714617883","   Nervous System Diseases"]
["C0813142","Circadian Rhythm Disorders",191,2,"0.9982724805137935","   Nervous System Diseases"]
["C0036330","Schistosomiasis mansoni",179,2,"0.988763024335123"]
["C0242497","Intestinal schistosomiasis",179,2,"0.9886896464834624"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249","   Cardiovascular Diseases"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249","   Pathological Conditions, Signs and Symptoms"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325","   Cardiovascular Diseases"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325","   Pathological Conditions, Signs and Symptoms"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069","   Musculoskeletal Diseases"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069","   Skin and Connective Tissue Diseases"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088","   Musculoskeletal Diseases"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088","   Skin and Connective Tissue Diseases"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Musculoskeletal Diseases"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Nervous System Diseases"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Female Urogenital Diseases and Pregnancy Complications"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Skin and Connective Tissue Diseases"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Pathological Conditions, Signs and Symptoms"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Behavior and Behavior Mechanisms"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567","   Mental Disorders"]
["C4023400","Generalized hypopigmentation of hair",170,2,"0.8741752036602615"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246","   Skin and Connective Tissue Diseases"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547","   Skin and Connective Tissue Diseases"]
["C0024799","Marginal ulcer",167,2,"0.3288398176990978","   Digestive System Diseases"]
["C0030920","Peptic Ulcer",167,2,"0.5447430931358818","   Digestive System Diseases"]
["C0023364","Leptospirosis",165,2,"1.0","   Infections"]
["C0043102","Weil Disease",165,2,"1.0","   Infections"]
["C0014476","Eperythrozoonosis",162,2,"0.9763688333050579","   Infections"]
["C0026936","Mycoplasma Infections",162,2,"0.9765910390406776","   Infections"]
["C0009326","Collagen Diseases",161,2,"0.2197946581904022","   Skin and Connective Tissue Diseases"]
["C0029883","Otitis Media with Effusion",161,2,"0.2197946581904022","   Otorhinolaryngologic Diseases"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087","   Endocrine System Diseases"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723","   Endocrine System Diseases"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","   Male Urogenital Diseases"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","   Female Urogenital Diseases and Pregnancy Complications"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","   Nutritional and Metabolic Diseases"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658","   Endocrine System Diseases"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723","   Male Urogenital Diseases"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723","   Female Urogenital Diseases and Pregnancy Complications"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723","   Nutritional and Metabolic Diseases"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723","   Endocrine System Diseases"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","   Digestive System Diseases"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","   Pathological Conditions, Signs and Symptoms"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867","   Hemic and Lymphatic Diseases"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867","   Nutritional and Metabolic Diseases"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867","   Pathological Conditions, Signs and Symptoms"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366","   Hemic and Lymphatic Diseases"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3854603","FNAITP",153,2,"0.9015382542785494"]
["C0343206","Hypocomplementemic urticarial vasculitis",150,2,"0.7251035333722083"]
["C4023113","Small vessel vasculitis",150,2,"0.4802384476127429"]
["C1384600","Systemic onset juvenile chronic arthritis",148,2,"0.37732833560863793"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605","   Musculoskeletal Diseases"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605","   Skin and Connective Tissue Diseases"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605","   Immune System Diseases"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482","   Infections"]
["C0877445","Candidemia",147,2,"0.6222172173608798","   Infections"]
["C0877445","Candidemia",147,2,"0.6222172173608798","   Pathological Conditions, Signs and Symptoms"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804","   Respiratory Tract Diseases"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804","   Cardiovascular Diseases"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452","   Cardiovascular Diseases"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452","   Hemic and Lymphatic Diseases"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0006105","Brain Abscess",144,2,"0.993164548373027","   Infections"]
["C0006105","Brain Abscess",144,2,"0.993164548373027","   Nervous System Diseases"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656"]
["C0238157","Benign hematuria",139,2,"1.0"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892","   Male Urogenital Diseases"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892","   Female Urogenital Diseases and Pregnancy Complications"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892","   Skin and Connective Tissue Diseases"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618","   Male Urogenital Diseases"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618","   Female Urogenital Diseases and Pregnancy Complications"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618","   Immune System Diseases"]
["C0264657","Renal sclerosis with hypertension",136,2,"0.36556103101872844"]
["C0238305","Sickle cell nephropathy",135,2,"1.0"]
["C2749515","Collapsing glomerulopathy",135,2,"1.0"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","   Musculoskeletal Diseases"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","   Stomatognathic Diseases"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","   Skin and Connective Tissue Diseases"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818","   Endocrine System Diseases"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395","   Musculoskeletal Diseases"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395","   Stomatognathic Diseases"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395","   Skin and Connective Tissue Diseases"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395","   Endocrine System Diseases"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117","   Musculoskeletal Diseases"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117","   Endocrine System Diseases"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573","   Musculoskeletal Diseases"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573","   Nervous System Diseases"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573","   Endocrine System Diseases"]
["C0271737","Addison\\'s disease due to autoimmunity",127,2,"0.7301362487287018"]
["C2103602","Autoimmune Primary Adrenal Insufficiency",127,2,"0.7475607575035587"]
["C0409952","Idiopathic osteoarthritis",125,2,"0.4268252862938259"]
["C1384584","Generalized osteoarthritis",125,2,"0.35786274943789437"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","   Nervous System Diseases"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","   Mental Disorders"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889","   Nervous System Diseases"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889","   Mental Disorders"]
["C1456246","Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site",122,2,"0.4649887553430743"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388","   Musculoskeletal Diseases"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588","   Infections"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588","   Animal Diseases"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831","   Infections"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831","   Female Urogenital Diseases and Pregnancy Complications"]
["C1970470","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)",117,2,"1.0","   Respiratory Tract Diseases"]
["C3711368","Surfactant Dysfunction",117,2,"1.0","   Respiratory Tract Diseases"]
["C1833487","Varicella, Severe Recurrent",115,2,"1.0"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0","   Infections"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406","   Hemic and Lymphatic Diseases"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406","   Immune System Diseases"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458","   Hemic and Lymphatic Diseases"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458","   Immune System Diseases"]
["C0038160","Staphylococcal Infections",109,2,"0.9748344539664633","   Infections"]
["C1318973","Staphylococcus aureus infection",109,2,"0.9753952292699479","   Infections"]
["C0014848","Esophageal Achalasia",107,2,"0.8953453362940573","   Digestive System Diseases"]
["C0859976","Idiopathic achalasia of esophagus",107,2,"0.8959759896830298"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794","   Musculoskeletal Diseases"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794","   Nervous System Diseases"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794","   Hemic and Lymphatic Diseases"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469","   Musculoskeletal Diseases"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469","   Nervous System Diseases"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469","   Hemic and Lymphatic Diseases"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777","   Nervous System Diseases"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777","   Wounds and Injuries"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052","   Nervous System Diseases"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052","   Wounds and Injuries"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0","   Infections"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0017677","Glossitis, Benign Migratory",101,2,"1.0","   Stomatognathic Diseases"]
["C0342879","Primary hypercholesterolemia",92,2,"0.5072362079212815"]
["C0342880","Polygenic hypercholesterolemia",92,2,"0.47131209749419495"]
["C0221014","Reactive systemic amyloidosis",88,2,"0.8757721251653822"]
["C3536715","AA amyloidosis",88,2,"0.8195465827971186"]
["C0342611","Familial non-neuropathic amyloidosis",87,2,"0.9999999999999984"]
["C1719313","Hereditary amyloid nephropathy",87,2,"0.9999999999999984"]
["C1318520","Necrotizing vasculitis",81,2,"0.3452722686939388"]
["C4050407","Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis",81,2,"0.5754267412787729"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788","   Cardiovascular Diseases"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788","   Hemic and Lymphatic Diseases"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788","   Immune System Diseases"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506","   Nervous System Diseases"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506","   Cardiovascular Diseases"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506","   Immune System Diseases"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369","   Infections"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369","   Respiratory Tract Diseases"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672","   Infections"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672","   Respiratory Tract Diseases"]
["C0276447","Rhinovirus infection",75,2,"0.5989059067265652"]
["C0860564","Retinoic acid syndrome",75,2,"0.10735026511308464"]
["C0006274","Bronchiolitis, Viral",74,2,"1.0","   Respiratory Tract Diseases"]
["C0343378","Helicobacter-associated gastritis",74,2,"1.0"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431","   Respiratory Tract Diseases"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431","   Hemic and Lymphatic Diseases"]
["C0340076","Asthmatic pulmonary eosinophilia",67,2,"0.9875146502406423"]
["C0008513","Chorioretinitis",58,2,"1.0","   Eye Diseases"]
["C0271429","Acute otitis media",58,2,"1.0"]
["C0740451","Granulomatous disorder",56,2,"0.7227409402498903"]
["C1334228","Intestinal Graft Versus Host Disease",56,2,"0.582080753975764"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717","   Hemic and Lymphatic Diseases"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303","   Hemic and Lymphatic Diseases"]
["C1449626","CADASILM",42,2,"0.9999999999999983","   Nervous System Diseases"]
["C1449626","CADASILM",42,2,"0.9999999999999983","   Cardiovascular Diseases"]
["C1449626","CADASILM",42,2,"0.9999999999999983","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4024918","Recurrent subcortical infarcts",42,2,"0.9999999999999983"]
["C0598428","genetic hypertension",39,2,"0.10835372021513352"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722","   Male Urogenital Diseases"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722","   Female Urogenital Diseases and Pregnancy Complications"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722","   Cardiovascular Diseases"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508","   Male Urogenital Diseases"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508","   Female Urogenital Diseases and Pregnancy Complications"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773","   Respiratory Tract Diseases"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773","   Otorhinolaryngologic Diseases"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335","   Digestive System Diseases"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335","   Cardiovascular Diseases"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591","   Digestive System Diseases"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591","   Cardiovascular Diseases"]
["C0268790","Renal vascular disorder",31,2,"0.9330123872994867"]
["C3810332","AURICULOCONDYLAR SYNDROME 3",31,2,"0.9296815872533594"]
["C0031039","Pericardial effusion",27,2,"0.6271121230469775","   Cardiovascular Diseases"]
["C0242426","Chylopericardium",27,2,"0.5052535960135892","   Cardiovascular Diseases"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984","   Nervous System Diseases"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984","   Cardiovascular Diseases"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984","   Nervous System Diseases"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984","   Cardiovascular Diseases"]
["C0018814","Heart Rupture, Post-Infarction",24,2,"0.9859785298241688","   Cardiovascular Diseases"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683","   Hemic and Lymphatic Diseases"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0","   Skin and Connective Tissue Diseases"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0","   Chemically-Induced Disorders"]
["C0852711","Sickle Cell Dactylitis",21,2,"1.0"]
["C0311370","Lupus anticoagulant disorder",17,2,"0.39169644528297426"]
["C2584409","Prothrombin G20210A mutation",17,2,"0.2175313471973938"]
["C0039103","Synovitis",13,2,"0.7609897081569665","   Musculoskeletal Diseases"]
["C0410574","Synovial Hypertrophy",13,2,"0.7390675909001504","   Musculoskeletal Diseases"]
["C2675767","EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",12,2,"1.0"]
["C3279941","STICKLER SYNDROME, TYPE IV",12,2,"1.0"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193","   Musculoskeletal Diseases"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193","   Endocrine System Diseases"]
["C4021538","Mild neurosensory hearing impairment",10,2,"0.9210085775509319"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719","   Musculoskeletal Diseases"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719","   Stomatognathic Diseases"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268","   Musculoskeletal Diseases"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268","   Endocrine System Diseases"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135","   Nervous System Diseases"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135","   Congenital, Hereditary, and Neonatal Diseases and Abnormalities"]
["C0687751","Acanthocytosis",1,2,"0.44297794826270537"]

{"sheet":"HPO","index":3,"n_rows":7575,"n_cols":6,"rows_kept":7575,"cut":false,"hidden":false,"merged":[]}
["disease_id","disease_name","cluster","cluster_items","silhouette_sample","HPO class name"]
["C0001231","ACTH Syndrome, Ectopic",155,29,"0.8917446133803774"]
["C0001614","Adrenal Cortex Diseases",155,29,"0.8930542471690757"]
["C0001622","Adrenal Gland Hyperfunction",155,29,"0.6835686301495986","Abnormality of the endocrine system"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","Abnormality of the skeletal system"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185","Abnormality of metabolism/homeostasis"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","Abnormality of head or neck"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","Abnormality of the nervous system"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","Abnormality of the musculature"]
["C0020488","Hypernatremia",155,29,"0.5913723966697572","Abnormality of metabolism/homeostasis"]
["C0154695","Diplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0154697","Cerebral Palsy, Quadriplegic, Infantile",155,29,"0.8930542471690757"]
["C0154698","Monoplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0242217","Calcium Pyrophosphate Dihydrate Deposition",155,29,"0.8930542471690757"]
["C0270742","Athetoid cerebral palsy",155,29,"0.8930542471690757","Abnormality of the nervous system"]
["C0270807","Monoplegic Cerebral Palsy",155,29,"0.8930542471690757"]
["C0271738","Hypocortisolism secondary to another disorder",155,29,"0.8930542471690757"]
["C0338596","Spastic cerebral palsy",155,29,"0.8930542471690757"]
["C0340375","Subaortic stenosis",155,29,"0.42098968313868534","Abnormality of the cardiovascular system"]
["C0342442","ACTH-dependent Cushing\\'s syndrome",155,29,"0.8930542471690757"]
["C0342494","Adrenocortical hyperplasia",155,29,"0.49969250988094815"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757"]
["C0394003","Cerebral Palsy, Dystonic-Rigid",155,29,"0.8930542471690757"]
["C0394007","Cerebral Palsy, Atonic",155,29,"0.8930542471690757"]
["C0553767","Congenital Cerebral Palsy",155,29,"0.8930542471690757"]
["C0574960","Sacroiliitis",155,29,"0.8776843642592694"]
["C0751024","Cerebral Palsy, Mixed",155,29,"0.8930542471690757"]
["C0751025","Cerebral Palsy, Rolandic Type",155,29,"0.8930542471690757"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757"]
["C2936444","Pyogenic Sacroiliitis",155,29,"0.8930542471690757"]
["C2936445","Septic Sacroiliitis",155,29,"0.8930542471690757"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942","Abnormality of the eye"]
["C0158328","Trigger Finger Disorder",701,24,"0.923439776663983"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983"]
["C0259749","Autonomic neuropathy",701,24,"0.8613429782763394"]
["C0268380","Systemic amyloidosis",701,24,"0.6363915466641327"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983"]
["C0339562","Amyloid of vitreous",701,24,"0.923439776663983"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871"]
["C0342613","Danish type familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0342623","Senile systemic amyloidosis",701,24,"0.923439776663983"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983"]
["C1719315","Hereditary cardiac amyloidosis",701,24,"0.923439776663983"]
["C2718001","Protein Misfolding Disorders",701,24,"0.923439776663983"]
["C2750824","Dystransthyretinemic Euthyroidal Hyperthyroxinemia",701,24,"0.923439776663983"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642"]
["C3151470","AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3151471","AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3468338","CARPAL TUNNEL SYNDROME, FAMILIAL",701,24,"0.923439776663983"]
["C4275067","Transthyretin related familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695","Abnormality of the cardiovascular system"]
["C0264913","Left posterior fascicular block",761,20,"0.6561976047947479","Abnormality of the cardiovascular system"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731"]
["C0344431","Ventricular tachycardia, monomorphic",761,20,"0.6561976047947479"]
["C0685108","Lenegre\\'s disease",761,20,"0.6561976047947479"]
["C1141890","Congenital long QT syndrome",761,20,"-0.4814313865646901"]
["C1832680","CARDIOMYOPATHY, DILATED, 1E",761,20,"0.6561976047947479"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479"]
["C3151464","ATRIAL FIBRILLATION, FAMILIAL, 10",761,20,"0.6561976047947479"]
["C3276240","LONG QT SYNDROME 2/3, DIGENIC",761,20,"0.5148869923873103"]
["C3276241","LONG QT SYNDROME 3/6, DIGENIC Disorder",761,20,"0.42203767574616585"]
["C3698186","Cardiac channelopathy",761,20,"0.6561976047947479"]
["C4476543","Complete heart block with broad QRS complexes",761,20,"0.6561976047947479"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184","Abnormality of the eye"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306","Abnormality of the eye"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394","Abnormality of the eye"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C1854260","LEBER CONGENITAL AMAUROSIS 6 (disorder)",571,20,"0.9740371723062394"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","Abnormality of blood and blood-forming tissues"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634","Abnormality of the immune system"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255"]
["C0595905","cortex bone disorders",62,19,"0.947551417529255"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338"]
["C1862556","Apolipoprotein E, Deficiency or Defect of",62,19,"0.947551417529255"]
["C1862557","Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d",62,19,"0.947551417529255"]
["C1862558","Familial Hyperbeta- and Prebetalipoproteinemia",62,19,"0.947551417529255"]
["C1862560","Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis",62,19,"0.947551417529255"]
["C1862561","Broad-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1862562","Floating-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013","Abnormality of the nervous system"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693"]
["C4237227","Obstructive sleep apnea hypopnea",62,19,"0.947551417529255"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138"]
["C3275443","MENTAL RETARDATION, X-LINKED 90 (disorder)",217,18,"0.6438841517661003"]
["C3275444","MENTAL RETARDATION, X-LINKED 88 (disorder)",217,18,"0.9407568144808138"]
["C3887939","MENTAL RETARDATION, X-LINKED 41",217,18,"0.600161968928229"]
["C0001889","Akinetic Mutism",130,18,"0.880517536873952","Abnormality of the nervous system"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852"]
["C0022802","Kuru",130,18,"0.880517536873952"]
["C0162534","Prion Diseases",130,18,"0.5639481907382818"]
["C0206042","Fatal Familial Insomnia",130,18,"0.880517536873952"]
["C0751645","Human Transmissible Spongiform Encephalopathies, Inherited",130,18,"0.880517536873952"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952"]
["C2349757","Iatrogenic Jakob-Creutzfeldt disease",130,18,"0.548250420431056"]
["C2900450","Other Creutzfeldt-Jakob disease",130,18,"0.7910919249868396"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402"]
["C3805618","CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",130,18,"0.880517536873952"]
["C4275003","Familial Creutzfeldt-Jakob",130,18,"0.880517536873952"]
["C4303482","Familial Alzheimer-like prion disease",130,18,"0.880517536873952"]
["C0027145","Myxedema",562,17,"0.8680601743049992"]
["C0040149","Subacute thyroiditis",562,17,"0.8680601743049992"]
["C0040156","Thyrotoxicosis",562,17,"0.2650637609359388"]
["C0271790","Subclinical hypothyroidism",562,17,"0.8597538955951437"]
["C0271791","Severe hypothyroidism",562,17,"0.6205795358777723"]
["C0271814","Silent thyroiditis",562,17,"0.8680601743049992"]
["C0302840","Toxic thyroid adenoma",562,17,"0.8680601743049992"]
["C0342114","Diffuse goiter",562,17,"0.8680601743049992"]
["C0342122","Toxic diffuse goiter",562,17,"0.8680601743049992","Abnormality of the endocrine system"]
["C0700502","Acquired hypothyroidism",562,17,"0.7958214371441152","Abnormality of the endocrine system"]
["C0869147","Neonatal hyperthyroidism",562,17,"0.8680601743049992"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876"]
["C1262098","Congenital hyperthyroidism",562,17,"0.8680601743049992"]
["C1836706","Hyperthyroidism, Nonautoimmune",562,17,"0.8680601743049992"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329"]
["C0014547","Epilepsies, Partial",1039,16,"0.39604734328491253"]
["C0086240","Epilepsy, Simple Partial",1039,16,"0.9183429424175625"]
["C0234974","Simple Partial Seizures",1039,16,"0.7989936344921901","Abnormality of the nervous system"]
["C0270820","Gelastic Epilepsy",1039,16,"0.9183429424175625","Abnormality of the nervous system"]
["C0270847","Benign Focal Epilepsy, Childhood",1039,16,"0.9183429424175625"]
["C0393675","Childhood Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C0393679","Amygdalo-Hippocampal Epilepsy",1039,16,"0.9183429424175625"]
["C0393681","Rhinencephalic Epilepsy",1039,16,"0.9183429424175625"]
["C0393691","Occipital Lobe Epilepsy",1039,16,"0.9183429424175625"]
["C0751112","Subclinical Seizure",1039,16,"0.9183429424175625"]
["C0751113","Uncinate Seizures",1039,16,"0.9183429424175625"]
["C0751115","Digestive Epilepsy",1039,16,"0.9183429424175625"]
["C1851549","Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C3494976","Migrating partial seizures in infancy",1039,16,"0.7057371472318906"]
["C3554195","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14",1039,16,"0.7989936344921899"]
["C3554306","EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",1039,16,"0.8997102131297593"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015","Abnormality of the nervous system"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953","Abnormality of the nervous system"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889","Abnormality of the nervous system"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818","Abnormality of the nervous system"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201","Abnormality of the nervous system"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658"]
["C0019021","Hemoglobin C Disease",363,15,"1.0"]
["C0221019","Sickle cell-beta-thalassemia",363,15,"1.0"]
["C0271986","delta beta^0^ Thalassemia",363,15,"1.0"]
["C0271987","^A^gamma delta beta^0^ thalassemia",363,15,"1.0"]
["C0272080","Hemoglobin D disease",363,15,"1.0"]
["C0272084","Hemoglobin SD disease",363,15,"1.0"]
["C0272085","Sickle cell-hemoglobin E disease",363,15,"1.0"]
["C0472769","Hemoglobin Lepore trait",363,15,"1.0"]
["C0472777","Hemoglobin E/beta thalassemia disease",363,15,"1.0"]
["C0599528","beta thalassemia major anemia",363,15,"1.0"]
["C0857812","Sickle cell-beta^+^-thalassemia",363,15,"1.0"]
["C0869532","Beta thalassemia minor",363,15,"1.0"]
["C1264000","Sickle cell-Hemoglobin O Arab disease",363,15,"1.0"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0"]
["C3161373","Dominant thalassemia",363,15,"1.0"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191"]
["C0154971","Presenile cataract",281,15,"0.6721328702701199","Abnormality of the eye"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","Abnormality of head or neck"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","Abnormality of the eye"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685","Abnormality of the eye"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685","Abnormality of the nervous system"]
["C0521573","Coloboma of eyelid",281,15,"0.04564369362472322","Abnormality of head or neck"]
["C0549307","Morning glory syndrome",281,15,"0.7499787358115191"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191"]
["C1835698","Keratitis, hereditary",281,15,"0.7499787358115191"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191"]
["C3554721","Morning glory anomaly",281,15,"0.6160530614576153"]
["C3805604","FOVEAL HYPOPLASIA 1",281,15,"0.7499787358115191"]
["C4310809","ANTERIOR SEGMENT DYSGENESIS 5",281,15,"0.7499787358115191"]
["C0235820","Neonatal encephalopathy",1324,14,"0.9477127756007206"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529"]
["C0796222","Mental Retardation, X-Linked 16",1324,14,"0.9477127756007206"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206","Abnormality of connective tissue"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206","Abnormality of the digestive system"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206","Abnormality of the nervous system"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206"]
["C1848211","Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism",1324,14,"0.9477127756007206"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206"]
["C1968552","Mental Retardation, X-Linked, With Spasticity",1324,14,"0.9477127756007206"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206"]
["C0393593","Dystonia Disorders",951,14,"0.6982519975028805"]
["C0393598","Idiopathic familial dystonia",951,14,"0.7679777162686043"]
["C0743332","Focal Dystonia",951,14,"0.9201450282110738","Abnormality of the nervous system"]
["C0752197","Adult-Onset Dystonias",951,14,"0.9589805064494471"]
["C0752198","Adult-Onset Idiopathic Focal Dystonias",951,14,"0.9592504244316343"]
["C0752199","Adult-Onset Idiopathic Torsion Dystonias",951,14,"0.9592504244316343"]
["C0752200","Autosomal Dominant Familial Dystonia",951,14,"0.9592504244316343"]
["C0752201","Autosomal Recessive Familial Dystonia",951,14,"0.9592504244316343"]
["C0752202","Childhood Onset Dystonias",951,14,"0.9583412898482454"]
["C0752203","Dystonia, Primary",951,14,"0.9427935104653784"]
["C0752205","Dystonia, Secondary",951,14,"0.9594463549465768"]
["C0752206","Dystonias, Sporadic",951,14,"0.9591923466269677"]
["C0752207","Familial Dystonia",951,14,"0.9117739505549026"]
["C4316810","Writer\\'s Cramp",951,14,"0.9592504244316343"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437","Abnormality of the cardiovascular system"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437"]
["C0796083","Najjar syndrome",183,14,"0.9732481556666437"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437"]
["C3266164","Dropped head syndrome",183,14,"0.9732481556666437"]
["C4021573","Patchy hypo- and hyperpigmentation",183,14,"0.9732481556666437","Abnormality of the integument"]
["C4021684","Sclerosis of hand bone",183,14,"0.9732481556666437","Abnormality of the skeletal system"]
["C4275075","Atypical Werner syndrome",183,14,"0.9694821351266303"]
["C0033377","Ptosis",1196,13,"0.9182382953840843"]
["C0154208","Disorder of endocrine ovary",1196,13,"0.7066692397622093"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106"]
["C1862260","BPES, TYPE I",1196,13,"0.9829110049058106"]
["C1862261","BPES, TYPE II",1196,13,"0.9829110049058106"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106"]
["C0008526","Choroiditis",507,13,"0.8004782025957944","Abnormality of the eye"]
["C0008526","Choroiditis",507,13,"0.8004782025957944","Abnormality of the immune system"]
["C0020875","Ileal Diseases",507,13,"0.7697948998824663"]
["C0022081","Iritis",507,13,"0.7697948998824663","Abnormality of the eye"]
["C0272192","Familial eosinophilia",507,13,"0.8004782025957944"]
["C0275551","Primary bacterial peritonitis",507,13,"0.49002046160008855"]
["C0341268","Disorder of small intestine",507,13,"0.8004782025957944"]
["C0376620","Pouchitis",507,13,"0.5543677376628083"]
["C1836122","SARCOIDOSIS, EARLY-ONSET",507,13,"0.8004782025957944"]
["C1853438","INFLAMMATORY BOWEL DISEASE 5",507,13,"0.44261517234695835"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218"]
["C2931133","Pediatric Crohn\\'s disease",507,13,"0.4326116375734043"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944","Abnormality of the eye"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944","Abnormality of the immune system"]
["C4310620","YAO SYNDROME",507,13,"0.8004782025957944"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895","Abnormality of the eye"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895","Abnormality of metabolism/homeostasis"]
["C0151814","Coronary Occlusion",22,13,"0.7102161850041155"]
["C0151970","Ulcer of esophagus",22,13,"0.8079605355986446","Abnormality of the digestive system"]
["C0154830","Proliferative diabetic retinopathy",22,13,"0.4046215313223032"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446","Abnormality of the eye"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446","Abnormality of the cardiovascular system"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684","Abnormality of the eye"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684","Abnormality of metabolism/homeostasis"]
["C0271084","Exudative age-related macular degeneration",22,13,"0.7292848099415582"]
["C0271178","Irvine-Gass Syndrome",22,13,"0.8079605355986446"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086"]
["C0730285","Diabetic macular edema",22,13,"0.5705128017554774"]
["C0741032","Refractory angina",22,13,"0.8079605355986446"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814"]
["C4068858","Avascular retina",22,13,"0.8079605355986446"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716","Abnormality of the skeletal system"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716","Abnormality of limbs"]
["C0521770","Asteroid hyalosis",6,13,"0.9640554617826333","Abnormality of the eye"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152","Abnormality of the skeletal system"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333"]
["C1858079","Osteoarthritis with Mild Chondrodysplasia",6,13,"0.9640554617826333"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333"]
["C4225273","SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",6,13,"0.9640554617826333"]
["C4302548","Dysspondyloenchondromatosis",6,13,"0.9640554617826333"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185","Abnormality of the genitourinary system"]
["C0221276","Relative erythrocytosis",1349,12,"0.9526266257878601"]
["C0272144","Erythrocytosis due to tissue hypoxemia",1349,12,"0.9526266257878601"]
["C0391869","Polycythemia due to excess erythopoetin production",1349,12,"0.9526266257878601"]
["C0541719","Stress polycythemia",1349,12,"0.9526266257878601"]
["C0865275","Polycythemia due to fall in plasma volume",1349,12,"0.9526266257878601"]
["C0865276","Polycythemia due to high altitude",1349,12,"0.9526266257878601"]
["C1837915","ERYTHROCYTOSIS, FAMILIAL, 2",1349,12,"0.9526266257878601"]
["C2674004","VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF",1349,12,"0.9526266257878601"]
["C2873823","Polycythemia due to erythropoietin",1349,12,"0.9526266257878601"]
["C2873824","Polycythemia due to stress",1349,12,"0.9526266257878601"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179"]
["C3149517","LARYNGOSPASM, SEVERE NEONATAL EPISODIC",773,12,"0.9993405043486447"]
["C3280112","MYASTHENIC SYNDROME, CONGENITAL, 16",773,12,"0.9993405043486447"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447"]
["C4023179","Paradoxical myotonia",773,12,"0.9993405043486447","Abnormality of the musculature"]
["C4275008","Acetazolamide responsive myotonia",773,12,"0.9993405043486447"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465"]
["C0085411","Angiodysplasia",142,12,"0.8847564051189242"]
["C0267370","Angiodysplasia of colon",142,12,"0.8847564051189242"]
["C0272355","von Willebrand disease, type IIC",142,12,"0.8847564051189242"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459"]
["C3641106","Congenital Bleeding Disorder",142,12,"0.6644661926356533"]
["C0035312","Retinal Drusen",94,12,"0.9997606633874201"]
["C0151565","Hemorrhagic colitis",94,12,"0.9997606633874201"]
["C0235618","Proliferative glomerulonephritis",94,12,"0.9997606633874201"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749"]
["C0730314","Chronic central serous chorioretinopathy",94,12,"0.9997606633874201"]
["C0853888","Hypocomplementaemia",94,12,"0.9997606633874201"]
["C1268937","Diarrhea-negative hemolytic uremic syndrome",94,12,"0.9997606633874201"]
["C1533060","Multifocal choroiditis",94,12,"0.9997606633874201"]
["C1720452","Soft drusen",94,12,"0.9997606633874201"]
["C1853147","MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)",94,12,"0.9997606633874201"]
["C1856143","HEMOLYTIC UREMIC SYNDROME, TYPICAL",94,12,"0.9997606633874201"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634"]
["C0032749","Post-kala-azar dermal leishmaniasis",61,12,"0.5850735930557925"]
["C0043407","Yersinia infections",61,12,"0.9361544369942634"]
["C0085311","Diffuse cutaneous leishmaniasis",61,12,"0.9361544369942634"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667","Abnormality of the immune system"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667","Abnormality of the digestive system"]
["C0267541","Typhlocolitis",61,12,"0.9361544369942634"]
["C0948780","Rhinosinusitis",61,12,"0.9361544369942634"]
["C1719498","Generalized chronic periodontitis",61,12,"0.9361544369942634"]
["C1720795","Acute Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1720796","Asymptomatic Inflammatory Prostatitis",61,12,"0.9361544369942634"]
["C1720797","Chronic Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1723764","Chronic Prostatitis with Chronic Pelvic Pain Syndrome",61,12,"0.9361544369942634"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463","Abnormality of the nervous system"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463","Abnormality of the cardiovascular system"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338","Abnormality of the nervous system"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338","Abnormality of the cardiovascular system"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978"]
["C0270933","Inflammatory neuropathy",690,11,"0.3133082460602747"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744"]
["C4020904","Myelin tomacula",690,11,"0.9471990763674978","Abnormality of the nervous system"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844"]
["C0268276","Juvenile GM 2 gangliosidosis",600,11,"0.9980248121615493"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493"]
["C1848915","Gm2-Gangliosidosis, Adult Chronic Type",600,11,"0.9980248121615493"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493"]
["C1848917","Tay-Sachs Disease, Pseudo-AB Variant",600,11,"0.9980248121615493"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493"]
["C2874270","GM2-GANGLIOSIDOSIS, ADULT",600,11,"0.9980248121615493"]
["C0162281","Corneal deposit",528,11,"0.9998287549904908"]
["C0271285","Epithelial basement membrane dystrophy",528,11,"0.9998287549904908","Abnormality of the eye"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908"]
["C0544848","Dystrophy, granular",528,11,"0.9998287549904908"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908"]
["C2939149","Amyloid of cornea",528,11,"0.9998287549904908"]
["C0012736","Dissecting aortic aneurysm",450,11,"0.9962367115472965"]
["C0023316","Lens Subluxation",450,11,"0.9962367115472965","Abnormality of the eye"]
["C0410787","Hereditary Connective Tissue Disorder",450,11,"0.9962367115472965"]
["C0856747","Aneurysm of ascending aorta",450,11,"0.9962367115472965"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965"]
["C3280054","GELEOPHYSIC DYSPLASIA 2",450,11,"0.9962367115472965"]
["C3541518","ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",450,11,"0.9962367115472965"]
["C4021645","Recurrent abdominal hernia",450,11,"0.9962367115472965"]
["C4310796","MARFAN LIPODYSTROPHY SYNDROME",450,11,"0.9962367115472965"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993"]
["C0018204","Granulomatous prostatitis",103,11,"0.8735624215362114"]
["C0023351","Tuberculoid leprosy",103,11,"0.8735624215362114"]
["C0041466","Typhoid Fever",103,11,"0.8794987616039337"]
["C0151450","Secondary SjÃ¶gren\\'s syndrome",103,11,"0.8735624215362114"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114"]
["C0242993","Nephropathia Epidemica",103,11,"0.5736702590571869"]
["C0393847","Multifocal motor neuropathy",103,11,"0.8735624215362114"]
["C0409651","Seropositive rheumatoid arthritis",103,11,"0.22365038115559094"]
["C0577620","Nut Hypersensitivity",103,11,"0.8735624215362114"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114"]
["C3899281","Early Inflammatory Arthritis",103,11,"0.8735624215362114"]
["C0021295","Infant, Premature, Diseases",37,11,"0.742036900172199"]
["C0028841","Ocular Hypotension",37,11,"0.742036900172199"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199"]
["C0152105","Hypertensive heart disease",37,11,"0.742036900172199"]
["C0740447","Diabetic peripheral neuropathy",37,11,"0.742036900172199"]
["C0741949","Cardiovascular Pathology",37,11,"0.6705414037844284"]
["C1096293","Macroangiopathy",37,11,"0.48674500112538505"]
["C1135196","Heart Failure, Diastolic",37,11,"-0.2529024267279328"]
["C1301700","Cardiovascular morbidity",37,11,"0.24729745995444893"]
["C1533172","Infantile nystagmus syndrome",37,11,"0.742036900172199"]
["C2349195","Acute Anterior Wall Myocardial Infarction",37,11,"0.742036900172199"]
["C0043124","West Nile Fever",1482,10,"0.8920888999971543"]
["C0282312","Bubonic Plague",1482,10,"0.8940559888874083"]
["C0404521","Infective vaginitis",1482,10,"0.8940559888874083"]
["C0497169","hiv-infection/aids",1482,10,"0.6285070490394137"]
["C0751583","Encephalitis, West Nile Fever",1482,10,"0.8915316185351188"]
["C0751584","West Nile Fever Meningitis",1482,10,"0.8940559888874083"]
["C0751585","West Nile Fever Meningoencephalitis",1482,10,"0.8940559888874083"]
["C0751586","West Nile Fever Myelitis",1482,10,"0.8940559888874083"]
["C0948192","Primary infection NOS",1482,10,"0.31706770862955735"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083"]
["C0037023","Sialadenitis",1391,10,"0.9926755805495429"]
["C0157843","Infective arthritis of shoulder region",1391,10,"0.9991842395001611"]
["C0157844","Unspecified infective arthritis involving upper arm",1391,10,"0.9991842395001611"]
["C0157845","Unspecified infective arthritis involving forearm",1391,10,"0.9991842395001611"]
["C0157846","Unspecified infective arthritis involving hand",1391,10,"0.9991842395001611"]
["C0157847","Unspecified infective arthritis, pelvic region and thigh",1391,10,"0.9991842395001611"]
["C0157848","Unspecified infective arthritis involving lower leg",1391,10,"0.9991842395001611"]
["C0157849","Unspecified infective arthritis, ankle and foot",1391,10,"0.9991842395001611"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611"]
["C3151379","OKT4 EPITOPE DEFICIENCY",1391,10,"0.9991842395001611"]
["C0042842","Vitamin A Deficiency",1309,10,"-0.06260598941674932","Abnormality of metabolism/homeostasis"]
["C0152455","Keratomalacia",1309,10,"0.7743075307898749"]
["C0271271","Xerotic keratitis",1309,10,"0.7743075307898749"]
["C0406481","Comedonal acne",1309,10,"0.7743075307898749"]
["C0856901","Retinol Deficiency",1309,10,"0.7743075307898749"]
["C3151228","RETINITIS PIGMENTOSA 38 (disorder)",1309,10,"-0.1846262653818366"]
["C3553016","Peripheral retinal atrophy",1309,10,"0.5935669506391431","Abnormality of the eye"]
["C3554593","RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",1309,10,"0.7743075307898749"]
["C4225330","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10",1309,10,"0.7743075307898749"]
["C4477027","Comedogenic acne",1309,10,"0.7743075307898749"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","Abnormality of the nervous system"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954"]
["C3150914","MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)",1143,10,"0.8880149060978981"]
["C3683791","Ataxia Neuropathy Spectrum",1143,10,"0.8880149060978981"]
["C4225153","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",1143,10,"0.8880149060978981"]
["C4225409","EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY",1143,10,"0.8880149060978981"]
["C4225440","EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",1143,10,"0.8880149060978981"]
["C0085541","Epilepsy, Frontal Lobe",1038,10,"0.7635039684443805"]
["C0393671","Frontal Epilepsy, Benign, Childhood",1038,10,"0.7113562741373897"]
["C0393683","Epilepsy, Supplementary Motor",1038,10,"0.7113562741373897"]
["C0393684","Epilepsy, Cingulate",1038,10,"0.7113562741373897"]
["C0393688","Epilepsy, Opercular",1038,10,"0.7113562741373897"]
["C0751642","Epilepsy, Anterior Fronto-Polar",1038,10,"0.7113562741373897"]
["C0751643","Epilepsy, Orbito-Frontal",1038,10,"0.7113562741373897"]
["C1838049","Epilepsy, Nocturnal Frontal Lobe, Type 1",1038,10,"0.12028915682573223"]
["C1854335","Epilepsy, Nocturnal Frontal Lobe, Type 3",1038,10,"0.11825610529682665"]
["C3696898","Autosomal Dominant Nocturnal Frontal Lobe Epilepsy",1038,10,"0.3706891001071476"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0"]
["C0238115","Boerhaave syndrome",1011,10,"1.0","Abnormality of the digestive system"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0"]
["C2675683","Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage",1011,10,"1.0"]
["C4302547","Dystrophic epidermolysis bullosa nails only",1011,10,"1.0"]
["C4511056","Centripetalis recessive dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C4518087","Acral dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C0016064","Fibrous Dysplasia, Monostotic",612,10,"0.8694170526648481","Abnormality of the skeletal system"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","Abnormality of the endocrine system"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904"]
["C0242292","McCune-Albright Syndrome",612,10,"0.858137083114479"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481","Abnormality of the nervous system"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481","Abnormality of the endocrine system"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484"]
["C3697137","Fibrous dysplasia of bone with intramuscular myxoma",612,10,"0.8694170526648481"]
["C0026919","Mycobacterium Infections, Nontuberculous",523,10,"1.0"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0","Abnormality of the skeletal system"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0","Abnormality of the immune system"]
["C0694566","Atypical Mycobacterial Infection, Disseminated",523,10,"1.0"]
["C1112429","Interferon gamma receptor deficiency",523,10,"1.0"]
["C1608955","Mycobacterium abscessus Infection",523,10,"1.0"]
["C2930924","Interferon gamma, receptor 1, deficiency",523,10,"1.0"]
["C3266863","Atypical Mycobacteriosis, Familial",523,10,"1.0"]
["C4011949","IMMUNODEFICIENCY 27A",523,10,"1.0"]
["C4014863","IMMUNODEFICIENCY 27B",523,10,"1.0"]
["C4288927","IFN-gamma Receptor 1 Deficiency",523,10,"1.0"]
["C0003907","Arthus Reaction",485,10,"0.6000971160313326"]
["C0014534","Epididymitis",485,10,"0.4276040266714033","Abnormality of the genitourinary system"]
["C0014534","Epididymitis",485,10,"0.4276040266714033","Abnormality of the immune system"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927"]
["C0398764","Complement Factor D Deficiency",485,10,"-0.19548728776622476"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484"]
["C0522274","Humoral immune defect",485,10,"0.7419300598689362"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362","Abnormality of the immune system"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362","Abnormality of the digestive system"]
["C3806660","Enteroviral dermatomyositis syndrome",485,10,"0.7419300598689362","Abnormality of the immune system"]
["C4280547","Infected joint",485,10,"0.7419300598689362"]
["C1300256","Thanatophoric dysplasia, type 1",252,10,"0.9998494245230437"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437","Abnormality of head or neck"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437","Abnormality of the skeletal system"]
["C1834928","Cloverleaf skull micromelia thoracic dysplasia",252,10,"0.9998494245230437"]
["C1851152","SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS",252,10,"0.9998494245230437"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437"]
["C2931282","Skeletal dysplasia, San Diego type",252,10,"0.9998494245230437"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024"]
["C0021845","Intestinal Perforation",163,10,"0.03238384849988696"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907","Abnormality of the cardiovascular system"]
["C0162869","Aneurysm, Ruptured",163,10,"0.7581173950476024"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996"]
["C1257763","Overnutrition",163,10,"0.7525548746269481"]
["C1442839","Hypervitaminosis D",163,10,"0.73652669314996"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024"]
["C0011389","Dental Plaque",64,10,"1.0"]
["C0265101","Carotid artery occlusion",64,10,"1.0","Abnormality of the cardiovascular system"]
["C0520574","Cerebrovascular amyloidosis",64,10,"1.0"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0","Abnormality of the nervous system"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0","Abnormality of the cardiovascular system"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0","Abnormality of blood and blood-forming tissues"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435"]
["C1856302","GSD IV, Nonprogressive Hepatic",1943,9,"0.9999178147408435"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435"]
["C1856306","GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy",1943,9,"0.9999178147408435"]
["C2936914","Cirrhosis, familial, with deposition of abnormal glycogen",1943,9,"0.9999178147408435"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738"]
["C1845117","Immunodeficiency without anhidrotic ectodermal dysplasia",1512,9,"0.9882351159840738"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738"]
["C2930820","Incontinentia pigmenti, familial male-lethal type",1512,9,"0.9882351159840738"]
["C4025314","Atrophic, patchy alopecia",1512,9,"0.9882351159840738","Abnormality of the integument"]
["C0007852","Cervical Migraine Syndrome",1398,9,"0.7501617077033723"]
["C0018984","Hemicrania migraine",1398,9,"0.7501617077033723"]
["C0042331","Migraine Variant",1398,9,"0.7160055476090497"]
["C0149931","Migraine Disorders",1398,9,"0.5559143549632166","Abnormality of the nervous system"]
["C0270858","Abdominal Migraine",1398,9,"0.7501617077033723"]
["C0338489","Status Migrainosus",1398,9,"0.7501617077033723"]
["C0521664","Acute Confusional Migraine",1398,9,"0.7501617077033723"]
["C0700438","Sick Headaches",1398,9,"0.7501617077033723"]
["C0744641","Intermittent migraine headaches",1398,9,"-0.32284017203017445"]
["C0865474","Parkinsonism or Parkinson\\'s disease NOS",1378,9,"1.0"]
["C0865475","Idiopathic Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C0865476","Primary Parkinsonism or Parkinson\\'s disease",1378,9,"1.0"]
["C1399358","Hemiparkinsonism",1378,9,"1.0"]
["C1851957","Diffuse Lewy Body Disease with Gaze Palsy",1378,9,"1.0"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0"]
["C1868595","PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)",1378,9,"1.0"]
["C1868596","Atypical Parkinson Disease",1378,9,"1.0"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064"]
["C3151468","PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1",1206,9,"0.9863358600890064"]
["C3275750","ATRIOVENTRICULAR SEPTAL DEFECT 3",1206,9,"0.9863358600890064"]
["C4479619","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3",1206,9,"0.9863358600890064"]
["C1306122","Oguchi disease",1122,9,"0.3824593538729675","Abnormality of the eye"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303"]
["C3551052","Night blindness, stationary",1122,9,"0.7006168224170927","Abnormality of the eye"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019"]
["C0154674","Symptomatic torsion dystonia",1078,9,"0.9895425567163028"]
["C0154675","Fragments of torsion dystonia",1078,9,"0.9895425567163028"]
["C0393601","Idiopathic non-familial dystonia",1078,9,"0.9895425567163028"]
["C0477373","Other forms of migraine",1078,9,"0.9895425567163028"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543"]
["C1832903","MIGRAINE, SPORADIC HEMIPLEGIC",1078,9,"0.9737107402936381"]
["C4310716","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42",1078,9,"0.9895425567163028"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493","Abnormality of the genitourinary system"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493","Abnormality of metabolism/homeostasis"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248"]
["C0546389","Hepatic periportal necrosis",1068,9,"0.9271356085439709","Abnormality of the digestive system"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644"]
["C3278154","GLUTARIC ACIDEMIA IIA",1068,9,"0.9134846171054567"]
["C3278155","GLUTARIC ACIDEMIA IIB",1068,9,"0.9105785627032866"]
["C3278156","GLUTARIC ACIDEMIA IIC",1068,9,"0.9154013645596661"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","Abnormality of the genitourinary system"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254","Abnormality of metabolism/homeostasis"]
["C1861453","Pseudohyperkalemia Cardiff",1053,9,"0.6837302474041852"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636"]
["C1862323","Southeast Asian ovalocytosis",1053,9,"0.9297508291212638"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636"]
["C4022665","Isothenuria",1053,9,"0.9317019562839636","Abnormality of the genitourinary system"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","Abnormality of the integument"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412","Abnormality of the integument"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885"]
["C4511230","Bathing suit ichthyosis",995,9,"0.4289803981348961"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761"]
["C0742468","Central nervous system lesion",740,9,"0.6383404306425577"]
["C0850741","Smoker\\'s lung",740,9,"0.4987757851787712"]
["C1167791","Skin toxicity",740,9,"0.5207036422508302"]
["C1512127","HER2 gene amplification",740,9,"0.21983729850888975"]
["C1559154","Rash and Dermatitis Adverse Event Associated with Chemoradiation",740,9,"0.055944302781270626"]
["C3266262","Multiple Chronic Conditions",740,9,"0.2803455268777472"]
["C3539781","Progressive cGVHD",740,9,"0.2558970703111747"]
["C4015130","INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",740,9,"0.6383404306425577"]
["C0270970","Reducing-body myopathy",734,9,"0.9800977569243934"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949","Abnormality of the musculature"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949","Abnormality of limbs"]
["C4225159","REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",734,9,"0.9800977569243934"]
["C4225423","REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",734,9,"0.9800977569243934"]
["C0025239","Melorheostosis",679,9,"0.9590810313320987"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804","Abnormality of the skeletal system"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987"]
["C2931505","Mixed sclerosing bone dystrophy",679,9,"0.9590810313320987"]
["C3149399","DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",679,9,"0.9590810313320987"]
["C3149631","MELORHEOSTOSIS, ISOLATED",679,9,"0.9590810313320987"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987"]
["C4305140","12q14 microdeletion syndrome",679,9,"0.7153201322878779"]
["C0158447","Idiopathic osteoporosis",572,9,"0.6786925250174957"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957"]
["C0432273","Worth disease",572,9,"0.6786925250174957"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957"]
["C1843330","OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",572,9,"0.6786925250174957"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612"]
["C1866176","EXUDATIVE VITREORETINOPATHY 4 (disorder)",572,9,"0.6786925250174957"]
["C1866180","Horizontal pendular nystagmus",572,9,"0.4673117248178364","Abnormality of the eye"]
["C4021951","Vertebral body sclerosis",572,9,"0.6786925250174957"]
["C0266491","Neuronal heterotopia",538,9,"0.4903918513767565","Abnormality of the nervous system"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175"]
["C1419610","RP23 gene",538,9,"0.5574660662561307"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497"]
["C1846175","SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)",538,9,"0.5574660662561307"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307"]
["C3554657","LISSENCEPHALY 5",538,9,"-0.021094451145836367"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665"]
["C1848214","Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia",489,9,"0.8633932514975425"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425"]
["C2748919","Frontootopalatodigital Osteodysplasia",489,9,"0.8633932514975425"]
["C3806579","CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",489,9,"0.8633932514975425"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447","Abnormality of the eye"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962"]
["C1835677","Keratoconus 1",469,9,"0.9149467475944513"]
["C3280099","CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME",469,9,"0.9420761249132962"]
["C0272005","Hemoglobin Bart\\'s hydrops syndrome",216,9,"0.9471710886523605"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177"]
["C1845298","MENTAL RETARDATION, X-LINKED 52",216,9,"0.1610886461493762"]
["C2873754","Severe alpha thalassemia",216,9,"0.9615459918125817"]
["C2873755","Triple gene defect alpha thalassemia",216,9,"0.9615459918125817"]
["C3161173","Hemoglobin H Constant Spring",216,9,"0.9615459918125817"]
["C3161175","Hydrops fetalis due to alpha thalassemia",216,9,"0.9615459918125817"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304"]
["C0015702","Favism",166,9,"0.9068857450061543"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543"]
["C0272132","Drug-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0472790","Chronic non-spherocytic hemolytic anemia",166,9,"0.9068857450061543"]
["C0520572","Enzymopathy",166,9,"0.9007307631074732"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824"]
["C4021648","Fava bean-induced hemolytic anemia",166,9,"0.9068857450061543","Abnormality of blood and blood-forming tissues"]
["C0000880","Acanthamoeba Keratitis",93,9,"0.9238516356314508"]
["C0036685","Septicaemia due to gram-negative organism, unspecified",93,9,"0.533549232007681"]
["C0262380","Asymptomatic bacteriuria",93,9,"0.7177161229130913"]
["C0744471","Gram-negative bacteremia",93,9,"0.9238516356314508"]
["C1864267","Endotoxin Hyporesponsiveness",93,9,"0.9238516356314508"]
["C1969108","Macular Degeneration, Age-Related, 10",93,9,"0.9238516356314508"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C4049883","Obstructive Ureterocele",93,9,"0.9238516356314508"]
["C0024140","Lupus Erythematosus, Subacute Cutaneous",55,9,"0.7340179452623813"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421"]
["C0206178","Cytomegalovirus Retinitis",55,9,"0.9579441245933421"]
["C0276622","Acute viral hepatitis",55,9,"0.9579441245933421"]
["C0340354","Q fever endocarditis",55,9,"0.9579441245933421"]
["C0678201","Terminal Ileitis",55,9,"0.9579441245933421"]
["C2348101","Destructive Arthritis",55,9,"0.9579441245933421"]
["C3826604","Celiac disease in children",55,9,"0.9579441245933421"]
["C3890941","Acute Motor Axonal Neuropathy",55,9,"0.9579441245933421"]
["C0271355","Abducens Nerve Diseases",2,9,"1.0"]
["C1838492","SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)",2,9,"1.0"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0"]
["C4024611","Nonprogressive muscular atrophy",2,9,"1.0","Abnormality of the musculature"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0","Abnormality of the skeletal system"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0","Abnormality of limbs"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742"]
["C0154778","Myopia, Degenerative",2035,8,"0.012251863619428949"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894"]
["C1968742","Glycogen Storage Disease IIID",1944,8,"0.9933621163568894"]
["C2936915","Amylo-1,6-glucosidase deficiency",1944,8,"0.9933621163568894"]
["C3695006","GLYCOGEN STORAGE DISEASE, TYPE IIIb",1944,8,"0.9933621163568894"]
["C3695007","GLYCOGEN STORAGE DISEASE, TYPE IIIa",1944,8,"0.9933621163568894"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0024591","Malignant hyperpyrexia due to anesthesia",1732,8,"0.8286985703814619","Abnormality of metabolism/homeostasis"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219"]
["C1840365","King Denborough syndrome",1732,8,"0.9533484815040281"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977","Abnormality of the musculature"]
["C1861751","Minicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861752","Multicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693"]
["C1867717","SAPOSIN D (disease)",1697,8,"0.7169491968775693"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614"]
["C4023499","Generalized clonic seizures",1697,8,"0.6117026369525251","Abnormality of the nervous system"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779"]
["C0730309","Inherited optic neuropathy",1520,8,"0.8982322948388008"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008"]
["C3276549","OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",1520,8,"0.8969385499601228"]
["C4225163","MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)",1520,8,"0.8982322948388008"]
["C4275164","Autosomal dominant optic atrophy plus syndrome",1520,8,"0.8982322948388008"]
["C0751776","Atypical Inclusion-Body Disease",1484,8,"0.7621691076824937"]
["C0751777","Familial Progressive Myoclonic Epilepsy",1484,8,"0.7621691076824937"]
["C0751778","Myoclonic Epilepsies, Progressive",1484,8,"0.7065093991195834","Abnormality of the nervous system"]
["C0751779","Action Myoclonus-Renal Failure Syndrome",1484,8,"0.6416655202717283"]
["C0751780","Biotin-Responsive Encephalopathy",1484,8,"0.7621691076824937"]
["C0751781","Dentatorubral-Pallidoluysian Atrophy",1484,8,"0.7049757231816715"]
["C0751782","May-White Syndrome",1484,8,"0.7621691076824937"]
["C4021759","Generalized myoclonic seizures",1484,8,"-0.12495320563348299","Abnormality of the nervous system"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355","Abnormality of the ear"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355","Neoplasm"]
["C0265234","Branchio-Oto-Renal Syndrome",1283,8,"0.32868895541348697"]
["C0376524","Branchio-Oculo-Facial Syndrome",1283,8,"-0.21518455895815086"]
["C1865143","BRANCHIOOTIC SYNDROME 1",1283,8,"0.002523954174933355"]
["C1970479","Branchiootorenal Syndrome 2",1283,8,"0.370317925827299"]
["C3551443","ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT",1283,8,"0.12954276709962123"]
["C3714941","OTOFACIOCERVICAL SYNDROME 1",1283,8,"-0.35773093630492153"]
["C4023411","Hemifacial hypoplasia",1283,8,"0.13737215279501558","Abnormality of head or neck"]
["C1832230","Peroxisome Biogenesis Disorder, Complementation Group 4",1186,8,"0.7408748471446291"]
["C1832231","Peroxisome Biogenesis Disorder, Complementation Group 6",1186,8,"0.7408748471446291"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209"]
["C3553538","BROWN-VIALETTO-VAN LAERE SYNDROME 2",1186,8,"-0.08228834986526815"]
["C3553936","PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)",1186,8,"0.7408748471446291"]
["C3553937","PEROXISOME BIOGENESIS DISORDER 4B",1186,8,"0.7408748471446291"]
["C4225267","HEIMLER SYNDROME 2",1186,8,"0.7408748471446291"]
["C1415817","HETEROTAXY, VISCERAL, 2, AUTOSOMAL",1133,8,"0.35958686099358655"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606"]
["C2931228","VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",1133,8,"0.1539267239679174"]
["C3151057","HETEROTAXY, VISCERAL, 4, AUTOSOMAL",1133,8,"0.224354478906329"]
["C3151867","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",1133,8,"0.6195813479742105"]
["C3553676","HETEROTAXY, VISCERAL, 6, AUTOSOMAL",1133,8,"0.47651770898072154"]
["C4274029","Biliary atresia with splenic malformation syndrome",1133,8,"-0.4702507365651105"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","Abnormality of the musculature"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679"]
["C3151295","HYPOMAGNESEMIA 6, RENAL",1012,8,"0.7250818753428685"]
["C4225333","HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION",1012,8,"0.7250818753428685"]
["C4510731","Familial primary hypomagnesemia with normocalciuria and normocalcemia",1012,8,"0.6372231128137914"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728","Abnormality of blood and blood-forming tissues"]
["C0014800","Erythroid hyperplasia",880,8,"0.03757468942048783","Abnormality of blood and blood-forming tissues"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182"]
["C0678199","Anemia of inadequate production",880,8,"-0.1460776513473016","Abnormality of blood and blood-forming tissues"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393"]
["C4025183","Macrocytic dyserythropoietic anemia",880,8,"0.34625443344394524","Abnormality of blood and blood-forming tissues"]
["C4225179","COWDEN SYNDROME 7",880,8,"0.05101840833974681"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189"]
["C4024710","Cerebellar cortical atrophy",871,8,"-0.02246949520390459","Abnormality of the nervous system"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156"]
["C1860406","VITREORETINOCHOROIDOPATHY (disorder)",794,8,"0.99720921350546"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546"]
["C3888099","Autosomal dominant vitreoretinochoroidopathy",794,8,"0.99720921350546"]
["C3888198","BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",794,8,"0.99720921350546"]
["C1320640","Peripheral degeneration of retina",789,8,"0.7738615683297322","Abnormality of the eye"]
["C1837029","Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",789,8,"0.2913636212590398"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891"]
["C1868569","Patterned dystrophy of retinal pigment epithelium",789,8,"0.6979186189155734"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322"]
["C2751290","CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",789,8,"0.7738615683297322"]
["C4024776","Reticular retinal dystrophy",789,8,"0.7738615683297322","Abnormality of the eye"]
["C4509881","Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus",789,8,"0.7738615683297322"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","Abnormality of the nervous system"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","Abnormality of the endocrine system"]
["C0034040","Puerperal Disorders",755,8,"0.6139125893059771"]
["C0751230","Hypothalamic Dysfunction Syndromes",755,8,"0.6139125893059771"]
["C1449720","Adolescent Gynecomastia",755,8,"0.6139125893059771"]
["C1449721","Infant Gynecomastia",755,8,"0.6139125893059771"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779","Abnormality of the breast"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","Abnormality of metabolism/homeostasis"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677"]
["C1968746","Gangliosidosis, Generalized GM1, Late-Infantile Type",599,8,"0.9824472859306677"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062"]
["C0271690","Type 2 diabetes mellitus with acanthosis nigricans",477,8,"0.9994747439888062"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062"]
["C0342336","Insulin resistance - type A",477,8,"0.9994747439888062"]
["C1864952","Hyperinsulinemic Hypoglycemia, Familial, 5",477,8,"0.9994747439888062"]
["C1960636","Dysglycemia",477,8,"0.9994747439888062"]
["C0017412","Genital Diseases, Male",439,8,"0.9202045795626449"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603"]
["C0860159","Partial androgen resistance",439,8,"0.9202045795626449"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","Abnormality of the endocrine system"]
["C0013390","Dysmenorrhea",409,8,"0.08185048481770882","Abnormality of the endocrine system"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124"]
["C0342394","Familial central diabetes insipidus",409,8,"0.7895683213028573"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","Abnormality of the nervous system"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514","Abnormality of the endocrine system"]
["C0857122","Hyponatraemic",409,8,"0.7895683213028573"]
["C1136135","Water Stress",409,8,"0.7895683213028573"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227"]
["C0340542","Sporadic primary pulmonary hypertension",378,8,"0.9125811377145642"]
["C0340544","Pulmonary arterial hypertension induced by drug",378,8,"0.9125811377145642"]
["C2939447","Right ventricular failure",378,8,"0.9125811377145642","Abnormality of the cardiovascular system"]
["C3697119","Pulmonary arterial hypertension associated with congenital heart disease",378,8,"0.9125811377145642"]
["C4020753","Intimal fibrosis",378,8,"0.9125811377145642","Abnormality of the cardiovascular system"]
["C4023403","Arterial intimal fibrosis",378,8,"0.9125811377145642","Abnormality of the cardiovascular system"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642","Abnormality of the cardiovascular system"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642","Abnormality of the respiratory system"]
["C0016436","Folliculitis",376,8,"0.5053871022777267"]
["C1275091","Ichthyosis follicularis with alopecia and photophobia (IFAP)",376,8,"0.8949262044208534"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534"]
["C2936846","Scarring alopecia",376,8,"0.8949262044208534"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534"]
["C3806745","PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED",376,8,"0.8949262044208534"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019"]
["C2673610","JEB-I",354,8,"0.843119422344277"]
["C4021730","Junctional split",354,8,"0.5710134342670009","Abnormality of the integument"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521"]
["C0342342","Idiopathic Hypoparathyroidism",330,8,"0.8829785322146788"]
["C0342637","Hypocalciuric hypercalcemia, familial, type 1",330,8,"0.8194862211047983"]
["C0345406","Neonatal hyperparathyroidism",330,8,"0.875290707550721"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261"]
["C1840348","Hypocalciuric Hypercalcemia, Acquired",330,8,"0.875290707550721"]
["C0014550","Myoclonic Epilepsy",323,8,"0.929047905660524","Abnormality of the nervous system"]
["C0338478","Idiopathic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0338479","Symptomatic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0393695","Early Childhood Epilepsy, Myoclonic",323,8,"0.948420157376199"]
["C0393702","Myoclonic Astatic Epilepsy",323,8,"0.7046903013229593","Abnormality of the nervous system"]
["C0393703","Myoclonic Absence Epilepsy",323,8,"0.948420157376199"]
["C0438414","Myoclonic Encephalopathy",323,8,"0.948420157376199"]
["C0751120","Benign Infantile Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052"]
["C1846388","CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",290,8,"0.996806704898052"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521"]
["C4478700","FOCAL CORTICAL DYSPLASIA, TYPE IIA",290,8,"0.996806704898052"]
["C4478701","FOCAL CORTICAL DYSPLASIA, TYPE IIB",290,8,"0.996806704898052"]
["C4479708","FCD IIA",290,8,"0.996806704898052"]
["C4479709","FCD IIB",290,8,"0.996806704898052"]
["C0032326","Pneumothorax",280,8,"0.8223784713035205","Abnormality of the respiratory system"]
["C0149781","Spontaneous pneumothorax",280,8,"0.9541762804677217","Abnormality of the respiratory system"]
["C0264558","Tension Pneumothorax",280,8,"0.9728018405562604"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654"]
["C0546483","Lung cyst",280,8,"0.9728018405562604"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604"]
["C1868193","PNEUMOTHORAX, PRIMARY SPONTANEOUS",280,8,"0.9720243119326936"]
["C4275252","Familial spontaneous pneumothorax",280,8,"0.9728018405562604"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744"]
["C0043037","Common wart",233,8,"0.9921988893938744"]
["C0085694","Chronic cholecystitis",233,8,"0.9921988893938744"]
["C0747742","polyp benign",233,8,"0.9921988893938744"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613"]
["C4049993","Aristolochic Acid Nephropathy",233,8,"0.9921988893938744"]
["C0153252","Systemic candidiasis",192,8,"0.505143674358917"]
["C0269084","Vulvar Vestibulitis",192,8,"0.8612264497413841"]
["C0746883","Febrile Neutropenia",192,8,"0.35346716001502215"]
["C1320214","Invasive Streptococcus pneumoniae disease",192,8,"0.6468126028250947"]
["C1609535","Invasive Candidiasis",192,8,"0.8612264497413841"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315"]
["C3825879","Otitis media in children",192,8,"0.8612264497413841"]
["C3826128","Infection in children",192,8,"0.8612264497413841"]
["C0003081","Anisometropia",173,8,"0.8200369611986975","Abnormality of the eye"]
["C0030517","Parathyroid Diseases",173,8,"0.7276449660258347","Abnormality of the endocrine system"]
["C0040046","Thrombophlebitis",173,8,"0.0255402408450929","Abnormality of blood and blood-forming tissues"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828"]
["C0030343","Panuveitis",69,8,"0.9384923708493668","Abnormality of the eye"]
["C0030343","Panuveitis",69,8,"0.9384923708493668","Abnormality of the immune system"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668"]
["C0729552","Genital infection",69,8,"0.9384923708493668"]
["C1328252","Mucocutaneous leishmaniasis",69,8,"0.9328875046648023"]
["C1609538","Latent Tuberculosis",69,8,"0.55470998528803"]
["C2350875","Constrictive Bronchiolitis",69,8,"0.8134100440183278","Abnormality of the respiratory system"]
["C2350876","Bronchiolitis, Exudative",69,8,"0.9384923708493668"]
["C2350988","Bronchiolitis, Proliferative",69,8,"0.9384923708493668"]
["C0206064","Microvascular Angina",20,8,"0.9317240164920229"]
["C0242129","Thrombotic stroke",20,8,"0.9591944520707146"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519"]
["C1856058","HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",20,8,"0.9591944520707146"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966","Abnormality of the nervous system"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286","Abnormality of head or neck"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496"]
["C0742191","Cervical spinal cord atrophy",1906,7,"0.7729275698293496","Abnormality of the nervous system"]
["C1847416","FRIEDREICH ATAXIA WITH RETAINED REFLEXES",1906,7,"0.7729275698293496"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402"]
["C3273225","Hereditary Neurodegenerative Disorder",1906,7,"0.595812236416077"]
["C4479491","LOPES-MACIEL-RODAN SYNDROME",1906,7,"-0.2961412440383463"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","Abnormality of the nervous system"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","Abnormality of the cardiovascular system"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827"]
["C0348447","Other specified diabetes mellitus",1721,7,"1.0"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0"]
["C0473524","Postpancreatectomy hypoinsulinemia",1721,7,"1.0"]
["C2874124","Diabetes mellitus due to genetic defect in insulin action",1721,7,"1.0"]
["C2874125","Diabetes mellitus due to genetic defect in beta cell function",1721,7,"1.0"]
["C4290094","postprocedural diabetes mellitus",1721,7,"1.0"]
["C4290095","secondary diabetes mellitus NEC",1721,7,"1.0"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515"]
["C1504405","Pyramidal tract dysfunction",1639,7,"0.6368796863267676","Abnormality of the nervous system"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412"]
["C4013648","POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",1639,7,"0.7014987938469461"]
["C0270969","Zebra body myopathy",1568,7,"0.9874271886404451"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451"]
["C4225181","MYOPATHY, SCAPULOHUMEROPERONEAL",1568,7,"0.9874271886404451"]
["C0001621","Adrenal Gland Diseases",1517,7,"0.8524907839149616","Abnormality of the endocrine system"]
["C0042131","Uterine Diseases",1517,7,"0.9744696903112824"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","Abnormality of the nervous system"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","Abnormality of the musculature"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824"]
["C1720816","Endometrial Diseases",1517,7,"0.9744696903112824"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091"]
["C0086648","MPS III B",1514,7,"0.7005171555200794"]
["C0086649","MPS III C",1514,7,"0.6829832180569418"]
["C0086650","MPS III D",1514,7,"0.6024101198885113"]
["C4225287","RETINITIS PIGMENTOSA 73",1514,7,"0.3445245033785194"]
["C4225306","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",1514,7,"0.2715014461574377"]
["C0220987","Hereditary orotic aciduria",1374,7,"0.7065315829061334"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321"]
["C3278622","OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA",1374,7,"0.7065315829061334"]
["C4021731","Pyrimidine-responsive megaloblastic anemia",1374,7,"0.7065315829061334","Abnormality of blood and blood-forming tissues"]
["C4025287","Folate-unresponsive megaloblastic anemia",1374,7,"0.7065315829061334","Abnormality of blood and blood-forming tissues"]
["C4225320","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",1374,7,"-0.18329244150023455"]
["C1833369","OROFACIAL CLEFT 3",1280,7,"0.9967601029660361"]
["C1835894","Orofacial Cleft 9",1280,7,"0.9967601029660361"]
["C1842143","Orofacial Cleft 4",1280,7,"0.9967601029660361"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126"]
["C1864323","OROFACIAL CLEFT 2",1280,7,"0.9967601029660361"]
["C2748505","Orofacial Cleft 12",1280,7,"0.9967601029660361"]
["C3151222","OROFACIAL CLEFT 13",1280,7,"0.9967601029660361"]
["C0454641","Expressive language delay",1249,7,"0.03949497349468351","Abnormality of the nervous system"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712"]
["C4225255","YUAN-HAREL-LUPSKI SYNDROME",1249,7,"0.8444506671680055"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158","Abnormality of the nervous system"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063","Abnormality of the immune system"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063","Abnormality of the digestive system"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385","Abnormality of the immune system"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385","Abnormality of the digestive system"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832","Abnormality of the immune system"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832","Abnormality of the digestive system"]
["C0156147","Crohn\\'s disease of large bowel",1029,7,"0.6170203836221173"]
["C0267380","Crohn\\'s disease of the ileum",1029,7,"0.6547814613509333"]
["C0678202","Regional enteritis",1029,7,"0.6591136699546444"]
["C0949272","IIeocolitis",1029,7,"0.6545885072337488"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","Abnormality of the nervous system"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802","Abnormality of the voice"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721"]
["C1843173","Charcot-Marie-Tooth disease, Type 2H",969,7,"0.8612066799351721"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721"]
["C0393556","Complicated hereditary spastic paraplegia",963,7,"0.72249728201469"]
["C0521670","Cranial nerve compression",963,7,"-0.2237250598717857","Abnormality of the nervous system"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469"]
["C4021582","Distal peripheral sensory neuropathy",963,7,"0.6231008219355161","Abnormality of the nervous system"]
["C4225253","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",963,7,"0.72249728201469"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008"]
["C1843418","Niemann-Pick Disease, Type F",956,7,"0.9848973435834008"]
["C2675644","Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression",956,7,"0.9848973435834008"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754"]
["C0221271","Elastosis perforans serpiginosa",947,7,"0.17291487511306886"]
["C0238421","Selenium deficiency",947,7,"-0.3067286723565978"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535"]
["C2751067","Parkinsonism-Dystonia, Infantile",947,7,"0.1389614173800297"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304"]
["C2931642","Benign symmetrical lipomatosis",869,7,"0.8539929001192434"]
["C4025619","Peripheral axonal atrophy",869,7,"0.03204881303701446","Abnormality of the nervous system"]
["C4310725","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",869,7,"0.865759783759407"]
["C0157738","Chronic skin ulcer",799,7,"0.36881212157454607"]
["C0206141","Idiopathic Hypereosinophilic Syndrome",799,7,"0.8321346232469082"]
["C0206143","Loeffler\\'s Endocarditis",799,7,"0.8309972982949037"]
["C0263662","Disseminated eosinophilic collagen disease",799,7,"0.8417435364687668"]
["C0745091","Hypereosinophilia",799,7,"0.5766791817757657"]
["C1540912","Hypereosinophilic syndrome",799,7,"0.7655568201131454"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814"]
["C0030590","Paroxysmal supraventricular tachycardia",768,7,"0.9428429931621836","Abnormality of the cardiovascular system"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","Abnormality of the cardiovascular system"]
["C0281788","Biventricular hypertrophy",768,7,"0.9428429931621836","Abnormality of the cardiovascular system"]
["C0559106","Ventricular preexcitation",768,7,"0.9219172999954353","Abnormality of the cardiovascular system"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914"]
["C1389102","Atrophy of the spinal cord",751,7,"0.537869109296383","Abnormality of the nervous system"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914"]
["C0019191","Infectious Canine Hepatitis",738,7,"1.0"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0"]
["C4013035","BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES",738,7,"1.0"]
["C4024975","Posterior leukoencephalopathy",738,7,"1.0","Abnormality of the nervous system"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705"]
["C0264789","Familial cardiomyopathy",731,7,"0.8191388975682928"]
["C1834481","CARDIOMYOPATHY, DILATED, 1S",731,7,"0.7107729389438642"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928"]
["C3150690","LEFT VENTRICULAR NONCOMPACTION 5",731,7,"0.8191388975682928"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928","Abnormality of the musculature"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928","Abnormality of limbs"]
["C0019624","Histiocytosis, Non-Langerhans-Cell",563,7,"0.9997076812797654"]
["C0878675","Erdheim-Chester Disease",563,7,"0.9982469751495253"]
["C1275336","Hashimoto-Pritzker syndrome",563,7,"0.9997076812797654"]
["C1402291","Pigmented lesions",563,7,"0.9997076812797654"]
["C1562010","Langerhans cell histiocytosis of lung",563,7,"0.9997076812797654"]
["C3150970","NOONAN SYNDROME 7",563,7,"0.9997076812797654"]
["C3150971","LEOPARD SYNDROME 3",563,7,"0.9997076812797654"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665"]
["C0281890","Laryngeal web",537,7,"0.5513991455619012","Abnormality of the respiratory system"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361"]
["C4025208","Severe T-cell immunodeficiency",537,7,"0.4673363837780735","Abnormality of the immune system"]
["C4540036","FRASER SYNDROME 2",537,7,"0.3853593638309096"]
["C0006848","Mucocutaneous candidiasis",524,7,"-0.07592702526490723"]
["C0032064","Plague",524,7,"0.6218490834498867"]
["C0040561","Ocular Toxoplasmosis",524,7,"0.11717401218752989"]
["C0343052","Guttate psoriasis",524,7,"-0.0854688567919862"]
["C0406317","Chronic small plaque psoriasis",524,7,"0.5041323683753064"]
["C1262117","Fungal keratitis",524,7,"0.6218490834498867"]
["C1609432","manifestations of immunopathology",524,7,"0.6218490834498867"]
["C0002438","Amebiasis",475,7,"0.7036637071355158"]
["C0013370","Amebic colitis",475,7,"0.7036637071355158"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","Abnormality of the nervous system"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","Abnormality of the endocrine system"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158"]
["C3554225","LEPTIN RECEPTOR DEFICIENCY",475,7,"0.7126397460079514"]
["C0001916","Albinism",394,7,"0.08659321546951285","Abnormality of the integument"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933"]
["C3888401","ALBINISM, OCULOCUTANEOUS, TYPE V",394,7,"0.6377678052519968"]
["C0014548","Epilepsy, Generalized",326,7,"0.6191113348262938"]
["C0017332","Generalized Nonconvulsive Seizure Disorder",326,7,"0.9484384670829212"]
["C0086236","Epilepsy, Atonic",326,7,"0.9484384670829212"]
["C0086241","Epilepsy, Tonic",326,7,"0.9484384670829212"]
["C0270854","Symptomatic Generalized Epilepsy",326,7,"0.9479388859098604"]
["C0311334","Generalized convulsive epilepsy",326,7,"0.9484384670829212"]
["C0347869","Epilepsy, Akinetic",326,7,"0.9484384670829212"]
["C0348617","Other cardiomyopathies",240,7,"0.06765223003863212"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021"]
["C4014393","CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",240,7,"0.8644666438091182"]
["C0085084","Motor Neuron Disease",181,7,"0.3621454154929846"]
["C0154681","Anterior Horn Cell Disease",181,7,"0.8434165605709408","Abnormality of the nervous system"]
["C0154682","Lateral Sclerosis",181,7,"0.7355465095145428"]
["C0270763","Familial Motor Neuron Disease",181,7,"0.8621489647310797"]
["C0270764","Motor Neuron Disease, Lower",181,7,"0.8626323328967057"]
["C0521659","Motor Neuron Disease, Upper",181,7,"0.8621489647310797"]
["C0543858","Motor Neuron Disease, Secondary",181,7,"0.8621489647310797"]
["C0033999","Pterygium",178,7,"0.624708766534821","Abnormality of the skeletal system"]
["C0033999","Pterygium",178,7,"0.624708766534821","Abnormality of the integument"]
["C0042749","Viremia",178,7,"0.7067899325459075"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164"]
["C0206608","Flavivirus Infections",178,7,"0.8433191715886285"]
["C0524911","Hepatitis D, Chronic",178,7,"0.8433191715886285"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0398641","Epstein syndrome (disorder)",137,7,"0.9995844678655483"]
["C0403445","Fechtner syndrome (disorder)",137,7,"0.9995844678655483"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639","Abnormality of the endocrine system"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639","Abnormality of the immune system"]
["C0340164","Lofgrens syndrome",104,7,"0.5970996544082956"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639"]
["C1304469","Localized vitiligo",104,7,"0.8822638238711639"]
["C0041105","Trismus",46,7,"0.5031468258950399","Abnormality of head or neck"]
["C0041105","Trismus",46,7,"0.5031468258950399","Abnormality of the skeletal system"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823"]
["C0520758","Prolonged neuromuscular block",46,7,"0.8807519467495823"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382"]
["C1867467","Acholinesterasemia",46,7,"0.8807519467495823"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C1867470","Hypocholinesterasemia, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599","Abnormality of the skeletal system"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175"]
["C0235989","Renal interstitial fibrosis",8,7,"0.8435672662936633"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027"]
["C0878576","Posterior Leukoencephalopathy Syndrome",8,7,"0.9264770333850133"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133"]
["C3160858","Posterior reversible encephalopathy syndrome",8,7,"0.9264770333850133"]
["C0270765","Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0393541","Distal Spinal Muscular Atrophy",3,7,"0.7938015520840968"]
["C0393546","Oculopharyngeal Spinal Muscular Atrophy",3,7,"0.89837165731556"]
["C0751334","Progressive Proximal Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0751335","Scapuloperoneal Form of Spinal Muscular Atrophy",3,7,"0.23472395381758301"]
["C0917981","Progressive Muscular Atrophy",3,7,"0.8391124368502302"]
["C3661519","Hereditary Motor Neuronopathy",3,7,"0.89837165731556"]
["C0032371","Poliomyelitis",2192,6,"1.0"]
["C0555971","Oral infection",2192,6,"1.0"]
["C0751445","Encephalitis, Polio",2192,6,"1.0"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0"]
["C1527258","Infantile paralysis",2192,6,"1.0"]
["C0007862","Cervico-Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0085920","Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0221759","Brachial Plexus Neuritis",2138,6,"0.999916502869803"]
["C0700251","Brachial Plexus Neuropathies",2138,6,"0.999916502869803","Abnormality of the nervous system"]
["C1510479","Neuralgic Amyotrophy",2138,6,"0.999916502869803"]
["C1834304","AMYOTROPHY, HEREDITARY NEURALGIC",2138,6,"0.9995804126684312"]
["C0013447","Ear Diseases",2068,6,"0.9975842949713284"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693"]
["C4023720","Cystic lesions of the pinnae",2068,6,"0.9995167617141693","Abnormality of the ear"]
["C1843807","Basal ganglia disease, biotin-responsive",1880,6,"0.09961392733652241"]
["C1851915","Abnormal facial muscle tone",1880,6,"0.6973555473280061"]
["C4023011","Craniofacial dystonia",1880,6,"0.6973555473280061","Abnormality of the nervous system"]
["C4072883","Abnormal craniofacial posture",1880,6,"0.6973555473280061"]
["C4310634","DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",1880,6,"0.24201927626570696"]
["C4310743","STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",1880,6,"0.2752157980350304"]
["C0023009","Speech and language disorder",1869,6,"0.3117899244885336"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795","Abnormality of the nervous system"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036"]
["C3281084","Congenital disorder of glycosylation type 1r",1869,6,"-0.1604413123167158"]
["C4021845","Oromotor apraxia",1869,6,"0.3874830477702107","Abnormality of the nervous system"]
["C4310833","INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN",1869,6,"0.11609787534550929"]
["C0206750","Coronavirus Infections",1846,6,"0.7293398185397326"]
["C0282687","Hemorrhagic Fever, Ebola",1846,6,"0.16044861831789892"]
["C0702135","Primary atypical pneumonia",1846,6,"0.8167081241366331"]
["C1412002","Atypical pneumonia",1846,6,"0.8167081241366331"]
["C3694279","Middle East Respiratory Syndrome",1846,6,"0.5768900183603317"]
["C4540188","NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",1846,6,"0.8167081241366331"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997"]
["C0151604","Genital edema",1819,6,"0.738826503950998"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998"]
["C4025182","Exercise-induced hemolysis",1819,6,"0.738826503950998","Abnormality of blood and blood-forming tissues"]
["C4225184","LYMPHEDEMA, HEREDITARY, III",1819,6,"0.738826503950998"]
["C4225242","DEHYDRATED HEREDITARY STOMATOCYTOSIS 2",1819,6,"-0.03416240762849514"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636"]
["C2939174","Medullary cystic disease",1609,6,"0.45796531755379355"]
["C3150877","SENIOR-LOKEN SYNDROME 7",1609,6,"0.5749325326275226"]
["C3889474","BARDET-BIEDL SYNDROME 16",1609,6,"-0.15177959363882892"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0"]
["C2749685","CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)",1567,6,"1.0"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0"]
["C4316899","Cystinosis",1567,6,"1.0"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","Abnormality of metabolism/homeostasis"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383"]
["C0010823","Cytomegalovirus Infections",1534,6,"0.6755742786632634"]
["C0026918","Mycobacterium Infections",1534,6,"0.7287136674355542"]
["C0340639","Carotid artery aneurysm",1534,6,"0.8878052037818089","Abnormality of the cardiovascular system"]
["C3151088","IMMUNODEFICIENCY 31B",1534,6,"0.8786081321831024"]
["C3279990","CANDIDIASIS, FAMILIAL, 7",1534,6,"0.8878052037818089"]
["C4013950","IMMUNODEFICIENCY 31A",1534,6,"0.8878052037818089"]
["C0154209","Hyperestrogenism",1516,6,"0.9920146521832814"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814"]
["C0853662","Oestrogen deficiency",1516,6,"0.9706426284991281"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814"]
["C1838780","Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease",1487,6,"1.0"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0"]
["C3280939","ATRIOVENTRICULAR SEPTAL DEFECT 5",1487,6,"1.0"]
["C3280943","ATRIAL SEPTAL DEFECT 9",1487,6,"1.0"]
["C3888085","PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",1487,6,"1.0"]
["C4012454","HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",1487,6,"1.0"]
["C0154822","Serous retinal detachment",1473,6,"0.28080632735466743","Abnormality of the eye"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","Abnormality of the musculature"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605"]
["C3280205","RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",1473,6,"0.13086365991194404"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904"]
["C1527284","Dental Pulp Stone",1447,6,"0.929948550601483","Abnormality of head or neck"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904"]
["C2750327","Hearing loss, sensorineural (high frequency)",1447,6,"0.9853361620923904"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904"]
["C0268559","Hyperglycinemia",1355,6,"0.2512969663981975","Abnormality of metabolism/homeostasis"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","Abnormality of metabolism/homeostasis"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0001890","Akinetic Petit Mal",1326,6,"0.8258188499216335"]
["C0014553","Absence Epilepsy",1326,6,"0.6375263018664784","Abnormality of the nervous system"]
["C0751124","Epilepsy, Absence, Atypical",1326,6,"0.8258188499216335"]
["C1838604","EPILEPSY, CHILDHOOD ABSENCE, 1",1326,6,"0.2716756322258953"]
["C4281785","Childhood Absence Epilepsy",1326,6,"0.8269372775744822"]
["C4317339","Juvenile Absence Epilepsy",1326,6,"0.8258188499216335"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659"]
["C1866505","Ichthyosis, Congenital, with Trichothiodystrophy",1293,6,"0.7387805067133496"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558"]
["C4024961","Metachromatic leukodystrophy variant",1293,6,"0.7387805067133496","Abnormality of the nervous system"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093","Abnormality of the genitourinary system"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093","Abnormality of metabolism/homeostasis"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093"]
["C0238304","Chronic interstitial nephritis",1221,6,"0.5079926130781431","Abnormality of the genitourinary system"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736"]
["C3280598","SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",1221,6,"0.6435137564077629"]
["C3280612","NEPHRONOPHTHISIS 13",1221,6,"0.6435137564077629"]
["C3280616","CRANIOECTODERMAL DYSPLASIA 4",1221,6,"0.4321476416969241"]
["C4225376","SENIOR-LOKEN SYNDROME 8",1221,6,"0.6435137564077629"]
["C0741916","Cardiac defects",1211,6,"0.1695060358123374"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421"]
["C2931638","Chromosome 8, monosomy 8p23 1",1211,6,"0.8020305089104421"]
["C3280777","VENTRICULAR SEPTAL DEFECT 1",1211,6,"0.8020305089104421"]
["C3280781","ATRIOVENTRICULAR SEPTAL DEFECT 4",1211,6,"0.8020305089104421"]
["C3809858","TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE",1211,6,"0.8020305089104421"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637","Abnormality of the cardiovascular system"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497"]
["C3276096","ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS",1207,6,"0.7703110005684497"]
["C3280785","VENTRICULAR SEPTAL DEFECT 3",1207,6,"0.7703110005684497"]
["C3280795","HYPOPLASTIC LEFT HEART SYNDROME 2",1207,6,"0.602452932946423"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497"]
["C0156259","Hypertrophy of kidney",1198,6,"0.9755319573696319"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319"]
["C1842534","DYSTONIA 18 (disorder)",1198,6,"0.8296927339960722"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319"]
["C3149117","GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",1198,6,"0.9755319573696319"]
["C0342482","X-linked Adrenal Hypoplasia",1180,6,"0.458298165746049"]
["C0795887","Complex Glycerol Kinase Deficiency",1180,6,"0.8097284676200114"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095"]
["C1868690","Hypoadrenocorticism, familial",1180,6,"0.780931783419923"]
["C3887896","Primary Adrenal Insufficiency",1180,6,"0.626300617743963"]
["C4505291","Xp21 Contiguous Gene Deletion Syndrome",1180,6,"0.8097284676200114"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277"]
["C3549544","ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C4225331","46,XY SEX REVERSAL 10",1175,6,"0.967585231757277"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555"]
["C0949690","Spondylarthritis",1173,6,"0.7980260053315987"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567"]
["C3549874","METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY",1173,6,"0.9586769150749567"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227"]
["C0268121","APRT deficiency, Japanese type",1166,6,"0.7256790722110227"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535"]
["C1291390","Deficiency of phosphorylase kinase",1166,6,"0.7256790722110227"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299","Abnormality of the genitourinary system"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713"]
["C0238062","Chronic intestinal pseudo-obstruction",1125,6,"0.8851738954991655"]
["C0266833","Visceral Myopathy, Familial",1125,6,"0.8851738954991655"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772"]
["C1835084","Megaduodenum and-or Megacystis",1125,6,"0.8823397396478201"]
["C1864996","Visceral Neuropathy, Familial, Autosomal Dominant",1125,6,"0.8851738954991655"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0"]
["C0033139","Primary Insomnia",1098,6,"1.0"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0"]
["C0751249","Chronic Insomnia",1098,6,"1.0"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577","Abnormality of the endocrine system"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936"]
["C0877017","Generalized tonic-clonic seizures with focal onset",1040,6,"0.24941196879596317","Abnormality of the nervous system"]
["C1850764","EPILEPSY, PROGRESSIVE MYOCLONIC 2B",1040,6,"0.8496640535115283"]
["C1850765","Visual auras",1040,6,"0.8592873956258936","Abnormality of the nervous system"]
["C4317153","Simple partial occipital seizures",1040,6,"0.8592873956258936"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Abnormality of blood and blood-forming tissues"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Abnormality of the immune system"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Abnormality of connective tissue"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887","Abnormality of the integument"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887","Abnormality of the cardiovascular system"]
["C1275345","Familial mastocytosis",1027,6,"0.7060233065158887"]
["C1837203","WAARDENBURG SYNDROME, TYPE IID",1027,6,"0.08207467360116744"]
["C4024848","Absent pigmentation of the ventral chest",1027,6,"0.6806030340524898","Abnormality of the integument"]
["C4509020","Isolated bone marrow mastocytosis",1027,6,"0.7060233065158887"]
["C0544008","Chandler syndrome",958,6,"0.6827524243787404"]
["C1611195","Congenital corneal dystrophy",958,6,"0.6297921518794525","Abnormality of the eye"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502"]
["C0028850","Ocular Motility Disorders",944,6,"1.0"]
["C1836217","Tukel syndrome",944,6,"1.0"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0"]
["C3808397","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",944,6,"1.0"]
["C4024789","Nonprogressive restrictive external ophthalmoplegia",944,6,"1.0","Abnormality of the eye"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269"]
["C2910340","Asphyxiating thoracic dysplasia [Jeune]",936,6,"0.09035794376709302"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499"]
["C1839022","Striatonigral Degeneration, Infantile, Mitochondrial",926,6,"0.9495225248828499"]
["C3275684","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",926,6,"0.9495225248828499"]
["C4225415","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",926,6,"0.7476245432308887"]
["C4225591","MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)",926,6,"0.9495225248828499"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147","Abnormality of the skeletal system"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147","Abnormality of limbs"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103","Abnormality of the skeletal system"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103","Abnormality of limbs"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235"]
["C1866751","Spinocerebellar tract degeneration",830,6,"0.14732935719479365","Abnormality of the nervous system"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0"]
["C1856491","Gaucher Disease, Type IIIa",825,6,"1.0"]
["C1856492","Gaucher Disease, Type IIIb",825,6,"1.0"]
["C1856493","Gaucher Disease, Norrbottnian Type",825,6,"1.0"]
["C2931585","Gaucher-like disease",825,6,"1.0"]
["C0398621","Hypoplasminogenemia",806,6,"1.0"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0","Abnormality of the immune system"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0","Abnormality of the digestive system"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0","Abnormality of head or neck"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0","Abnormality of the eye"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0","Abnormality of the cardiovascular system"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0","Abnormality of the immune system"]
["C4225445","PLASMINOGEN DEFICIENCY, TYPE II",806,6,"1.0"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938"]
["C1828221","Non dystrophic myotonia",774,6,"0.5916309905416627"]
["C1959600","Obscure African cardiomyopathy",774,6,"0.86557682095558"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","Abnormality of connective tissue"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398","Abnormality of connective tissue"]
["C0494360","Lipodystrophy, not elsewhere classified",746,6,"0.3287782726532428"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452","Abnormality of the endocrine system"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452","Abnormality of metabolism/homeostasis"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944"]
["C1833308","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V",745,6,"-0.5162988033870547"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003"]
["C2608087","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB",745,6,"0.36126552597097733"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678","Abnormality of the musculature"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678","Abnormality of limbs"]
["C4021578","Chronic axonal neuropathy",745,6,"0.16708847183798495","Abnormality of the nervous system"]
["C0432418","Trisomy 21- mitotic nondisjunction mosaicism",724,6,"1.0"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0"]
["C3550789","THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",724,6,"1.0"]
["C3550856","ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",724,6,"1.0"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108"]
["C0025637","Methemoglobinemia",658,6,"0.35530870263789033","Abnormality of blood and blood-forming tissues"]
["C0272087","Congenital Methemoglobinemia",658,6,"0.7408610909015111"]
["C2749559","Methemoglobinemia, Type I",658,6,"0.8600842424357462"]
["C2749560","Methemoglobinemia, Type Ii",658,6,"0.8600842424357462"]
["C2749561","Nadh-Cytochrome B5 Reductase Deficiency, Type I",658,6,"0.8600842424357462"]
["C2749562","Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",658,6,"0.8600842424357462"]
["C0409896","Familial chondrocalcinosis",605,6,"0.8107807238763005"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","Abnormality of the skeletal system"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","Abnormality of connective tissue"]
["C0856830","Calcium pyrophosphate arthropathy",605,6,"0.8107807238763005"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214"]
["C3279807","CRANIOECTODERMAL DYSPLASIA 3",605,6,"0.7028732630561377"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005","Abnormality of the skeletal system"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005","Abnormality of connective tissue"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305"]
["C3463992","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",592,6,"0.8317749686210503"]
["C0024214","Lymphangiectasis",530,6,"0.6760153254740777"]
["C0024236","Lymphedema",530,6,"-0.03265059806078997","Abnormality of metabolism/homeostasis"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861"]
["C1313885","Hereditary edema of legs",530,6,"0.6760153254740776"]
["C1704423","Milroy Disease",530,6,"0.535007958582348"]
["C4014628","LYMPHEDEMA, HEREDITARY, ID",530,6,"0.36209830077269245"]
["C0543968","Cone dysfunction syndrome",476,6,"0.9195113948520234","Abnormality of the eye"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127"]
["C3151784","MACULAR DEGENERATION, X-LINKED ATROPHIC",476,6,"0.982799499958127"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669","Abnormality of the endocrine system"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216"]
["C2677565","AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)",438,6,"0.9826350552897193"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996"]
["C3148872","FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150169","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150171","FTLD-TDP, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819"]
["C0149778","Soft Tissue Infections",420,6,"0.9162993573373813"]
["C0264515","Pneumonia, Necrotizing",420,6,"0.9415573225512234"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234"]
["C1846131","Photosensitive tonic-clonic seizures",420,6,"0.9415573225512234","Abnormality of the nervous system"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175"]
["C3279392","PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C3279393","PXE, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C4531299","Premature occlusive vascular stenosis",393,6,"0.09607115322396818"]
["C0472761","Homozygous alpha thalassemia",366,6,"0.970112026302299"]
["C0475813","Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder",366,6,"0.9663750839256856"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999"]
["C0878520","beta Thalassemia, heterozygous",366,6,"0.8692861543865809"]
["C1260396","Alpha thalassemia intermedia",366,6,"0.970112026302299"]
["C3161174","Hemoglobin H Disease",366,6,"0.9066147473341469","Abnormality of blood and blood-forming tissues"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819"]
["C3150989","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",351,6,"0.9524686161520819"]
["C4024942","Late-onset muscular dystrophy",351,6,"0.7987897505255578","Abnormality of the musculature"]
["C4225309","EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY",351,6,"0.9524686161520819"]
["C0221259","Trichiasis",348,6,"1.0","Abnormality of head or neck"]
["C0221259","Trichiasis",348,6,"1.0","Abnormality of the integument"]
["C0395973","Recessive sensorineural hearing loss",348,6,"1.0"]
["C0452136","Conductive hearing loss, bilateral",348,6,"1.0","Abnormality of the ear"]
["C0478084","Other congenital ichthyosis",348,6,"1.0"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0"]
["C0029442","Osteomalacia",339,6,"0.005119648623869788","Abnormality of the skeletal system"]
["C0235394","Wasting",339,6,"0.5685219587206719"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716","Abnormality of the skeletal system"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716","Abnormality of metabolism/homeostasis"]
["C0393698","Cryptogenic Infantile Spasms",306,6,"0.9757643589272029"]
["C0393699","Symptomatic Infantile Spasms",306,6,"0.9757643589272029"]
["C0546878","Nodding spasm",306,6,"0.9757643589272029","Abnormality of the eye"]
["C0553558","Jackknife Seizures",306,6,"0.9757643589272029"]
["C1527306","spasmus nutans",306,6,"0.9757643589272029"]
["C1527366","Salaam Seizures",306,6,"0.8865591049575577","Abnormality of the nervous system"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","Abnormality of head or neck"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","Abnormality of the skeletal system"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984"]
["C1863391","Vogt Cephalodactyly",268,6,"0.9112906808164984"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239"]
["C3281247","BENT BONE DYSPLASIA SYNDROME",268,6,"0.9112906808164984"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723"]
["C0282193","Iron Overload",241,6,"-0.07758041863174105"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062"]
["C1858583","HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",241,6,"0.26468488753674224"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664"]
["C0000833","Abscess",222,6,"0.581505321423442"]
["C0268419","Acatalasia",222,6,"0.8911954096941628"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628"]
["C0033300","Progeria",184,6,"0.6345171388494887"]
["C0270254","Hydrops of placenta",184,6,"0.8972865878833377","Abnormality of prenatal development or birth"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349"]
["C0685924","Adhesions of temporomandibular joint",184,6,"0.8972865878833377"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377","Abnormality of head or neck"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377","Abnormality of the skeletal system"]
["C0011156","Deficiency Diseases",180,6,"0.36174723865131375"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244"]
["C0232197","Fibrillation",180,6,"0.21342216278468734"]
["C0270780","Degenerative myelopathy",180,6,"0.5159609591113244"]
["C3542025","AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",180,6,"0.1648685959396861"]
["C3825201","Mitochondrial pathology",180,6,"0.4423756692204582"]
["C0020595","Hypoaldosteronism",157,6,"0.1961937930001835","Abnormality of the endocrine system"]
["C0268293","Corticosterone Methyl Oxidase Type I Deficiency",157,6,"0.5550612094891115"]
["C0376185","Hypoaldosteronism, Hyporeninemic",157,6,"0.5550612094891115"]
["C0701163","Adrenogenital disorder",157,6,"0.32536153033283927"]
["C3463917","Corticosterone Methyl Oxidase Type II Deficiency",157,6,"0.5550612094891115"]
["C3713420","Familial Hyperaldosteronism",157,6,"0.11995130846431504"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814"]
["C0041228","African Trypanosomiasis",156,6,"-0.05304669301863994"]
["C0085740","Mendelson Syndrome",156,6,"-0.14479271600563814"]
["C0340520","Athlete\\'s heart",156,6,"0.39154354883114173"]
["C1321756","Achalasia",156,6,"-0.20450268771115046"]
["C1867403","Pyloric Stenosis, Infantile Hypertrophic 1",156,6,"-0.3744174322734409"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396"]
["C2717961","Thrombotic Microangiopathies",134,6,"0.15056548950475487"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496","Abnormality of the immune system"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496","Abnormality of the digestive system"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792"]
["C1096155","Macrophage Activation Syndrome",112,6,"0.4606583798699249"]
["C4015067","AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS",112,6,"0.46628036569364917"]
["C4015276","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4",112,6,"0.46628036569364917"]
["C4225218","AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",112,6,"-0.1117809686920282"]
["C0031069","Familial Mediterranean Fever",86,6,"0.9229180407194504"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013"]
["C0151859","Polyserositis",86,6,"0.9279116111185013"]
["C0585274","Periodic syndrome",86,6,"0.7999244510282996"]
["C1851347","Familial Mediterranean Fever, Autosomal Dominant",86,6,"0.9279116111185013"]
["C3267073","Autoinflammatory disease",86,6,"0.696311485670011"]
["C0019247","Hereditary Diseases",73,6,"0.8360101580381964"]
["C0037176","Single-Gene Defects",73,6,"0.8425313121540062"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593"]
["C1956089","Osteophyte",73,6,"0.5536156371508102"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926"]
["C0030499","Parasitic Diseases",66,6,"0.70907731445352"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742"]
["C0155880","Intrinsic asthma",66,6,"0.9266062655996742"]
["C0311368","Idiopathic eosinophilia",66,6,"0.9266062655996742"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742"]
["C1322281","Seasonal rhinitis",66,6,"0.9266062655996742"]
["C0235419","Hyperuricemic nephropathy",50,6,"0.997573961104989"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989"]
["C3280216","HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",50,6,"0.997573961104989"]
["C4020705","Glomerulocystic kidney disease",50,6,"0.99059824428434","Abnormality of the genitourinary system"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801","Abnormality of blood and blood-forming tissues"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423","Abnormality of blood and blood-forming tissues"]
["C0235522","Disorder of vein",15,6,"0.9904669110156423"]
["C0749087","Thrombosis of subclavian vein",15,6,"0.9904669110156423"]
["C1853831","Bleeding Disorder, East Texas Type",15,6,"0.9904669110156423"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423"]
["C2584620","Thrombophilia, hereditary",15,6,"0.9353652690662111"]
["C0007177","Cardiac Tamponade",14,6,"0.729147014733889"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461"]
["C0085307","Embolism and Thrombosis",14,6,"0.443470289383963","Abnormality of blood and blood-forming tissues"]
["C0750949","Vertebrogenic Pain Syndrome",14,6,"0.7301506248948058"]
["C2676721","Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C2676722","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337"]
["C1838230","SPINAL MUSCULAR ATROPHY, TYPE IV",4,6,"0.6303982245856342"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495"]
["C0268241","Pancreatic colipase deficiency",2083,5,"1.0"]
["C3280527","PANCREATIC LIPASE DEFICIENCY",2083,5,"1.0"]
["C3280528","COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C3280529","LIPASE AND COLIPASE, DEFICIENCY OF",2083,5,"1.0"]
["C3280530","LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221"]
["C1840364","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",2019,5,"0.673654338282343"]
["C2937288","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",2019,5,"0.6748968612989924"]
["C2940786","Thyroid Hormone Resistance Syndrome",2019,5,"0.5561212833631795","Abnormality of the endocrine system"]
["C3280817","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",2019,5,"0.0563628462130201"]
["C3489796","Thyroid Hormone Resistance, Generalized, Autosomal Recessive",2019,5,"0.6748968612989924"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496"]
["C1291560","Deficiency of glutamate decarboxylase",1995,5,"0.5501185709836273"]
["C1849508","EPILEPSY, PYRIDOXINE-DEPENDENT",1995,5,"0.4039462108640794"]
["C4014621","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25",1995,5,"0.2836531644246132"]
["C4310632","EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",1995,5,"0.2487001495425813"]
["C1850343","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME",1974,5,"0.5511721923257112"]
["C1864389","PREMATURE CHROMATID SEPARATION TRAIT",1974,5,"0.1419757855409024"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288"]
["C3279843","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",1974,5,"0.20760954377828894"]
["C4539839","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3",1974,5,"0.15638233159140782"]
["C0014378","Enterovirus Infections",1854,5,"0.010236797056306087"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567"]
["C3150876","COG5 congenital disorder of glycosylation",1854,5,"0.16907535155741946"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195"]
["C4511057","Congenital muscular dystrophy Paradas type",1851,5,"0.9965337209002978"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821"]
["C0022408","Arthropathy",1850,5,"0.3414743229593591","Abnormality of the skeletal system"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914","Abnormality of head or neck"]
["C1835039","Melanosis, Universal",1847,5,"0.8519229792530103"]
["C1840392","HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",1847,5,"0.8519229792530103"]
["C4225241","DEAFNESS, AUTOSOMAL DOMINANT 69",1847,5,"0.8519229792530103"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0"]
["C4015286","MACULAR DEGENERATION, EARLY-ONSET",1833,5,"1.0"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456","Abnormality of the digestive system"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","Abnormality of the genitourinary system"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532","Constitutional symptom"]
["C0264885","Myxoid transformation of mitral valve",1829,5,"0.8035512099629083"]
["C3554279","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",1829,5,"0.7956855749996385"]
["C4509918","Polyvalvular heart disease syndrome",1829,5,"0.8035512099629083"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336","Abnormality of the integument"]
["C0477506","Other specified nonscarring hair loss",1795,5,"0.6383419119718972"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464"]
["C2750815","Marie Unna Hereditary Hypotrichosis 1",1795,5,"0.8169625301232976"]
["C2931059","Marie Unna congenital hypotrichosis",1795,5,"0.7014044744662146"]
["C1859228","Cerebrohepatorenal Syndrome, Variant Types",1771,5,"1.0"]
["C3550234","PEROXISOME BIOGENESIS DISORDER 2B",1771,5,"1.0"]
["C3550273","PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)",1771,5,"1.0"]
["C3550274","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",1771,5,"1.0"]
["C4225237","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",1771,5,"1.0"]
["C0393912","Segmental Autonomic Dysfunction",1765,5,"1.0"]
["C0750944","Peripheral Autonomic Nervous System Diseases",1765,5,"1.0"]
["C0750945","Nervous System Diseases, Parasympathetic",1765,5,"1.0"]
["C0750946","Nervous System Diseases, Sympathetic",1765,5,"1.0"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674"]
["C0393577","Pallidal degeneration",1760,5,"0.5824712588268566","Abnormality of the nervous system"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387"]
["C3550973","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5",1760,5,"0.0008224967299390304"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076","Abnormality of the genitourinary system"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364"]
["C3280113","NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",1753,5,"0.9455386127908967"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0"]
["C3151065","Cataract, Posterior Polar, 2",1747,5,"1.0"]
["C3151236","MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",1747,5,"1.0"]
["C3554649","CARDIOMYOPATHY, DILATED, 1II",1747,5,"1.0"]
["C3808377","CATARACT 16, MULTIPLE TYPES",1747,5,"1.0"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052"]
["C0265856","Hypoplasia of right heart",1735,5,"0.5925835487683471","Abnormality of the cardiovascular system"]
["C0344963","Right hypoplastic heart syndrome",1735,5,"0.5925835487683471","Abnormality of the cardiovascular system"]
["C4225164","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",1735,5,"0.5925835487683471"]
["C4225363","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",1735,5,"0.055851280077416444"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944"]
["C0221168","Podagra",1710,5,"0.8225380418005229","Abnormality of the skeletal system"]
["C0221168","Podagra",1710,5,"0.8225380418005229","Abnormality of metabolism/homeostasis"]
["C0221168","Podagra",1710,5,"0.8225380418005229","Abnormality of limbs"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959"]
["C0740394","Hyperuricemia",1710,5,"0.03535227515319863","Abnormality of metabolism/homeostasis"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229"]
["C0403719","Uric acid urolithiasis",1709,5,"0.6422766674534127","Abnormality of the genitourinary system"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305"]
["C0221333","Hypouricemia",1708,5,"0.12946930590856384","Abnormality of metabolism/homeostasis"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576"]
["C0744466","gout tophaceous",1708,5,"0.730238388189677"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677"]
["C2677551","GOUT SUSCEPTIBILITY 2",1708,5,"0.730238388189677"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655"]
["C0271007","Phthisis bulbi",1694,5,"0.1501664216321542","Abnormality of the eye"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465"]
["C0154748","Lesion of Sciatic Nerve",1685,5,"0.8539797045288393"]
["C0242013","Sciatic Neuritis",1685,5,"0.8539797045288393"]
["C0751924","Neuralgia-Neuritis, Sciatic Nerve",1685,5,"0.8539797045288393"]
["C0751925","Sciatic Nerve Palsy",1685,5,"0.8539797045288393"]
["C3809803","MICROPHTHALMIA, SYNDROMIC 12",1685,5,"0.38920436977425665"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","Abnormality of the genitourinary system"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","Abnormality of metabolism/homeostasis"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526"]
["C1857390","Cystinuria, Type A-B",1676,5,"0.9745055476398384"]
["C1288283","Atrophoderma maculatum",1657,5,"0.08431152027243953","Abnormality of the eye"]
["C3281045","CONE-ROD DYSTROPHY 16",1657,5,"0.7784678986723551"]
["C3281046","RETINITIS PIGMENTOSA 64",1657,5,"0.7833253612152383"]
["C4049066","Retinal dystrophy with early macular involvement",1657,5,"0.7663194196614513","Abnormality of the eye"]
["C4319932","BARDET-BIEDL SYNDROME 21",1657,5,"0.7833253612152383"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295"]
["C1844412","Liver Glycogenosis, X-Linked, Type II",1644,5,"0.7599745654210066"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066"]
["C3694531","GLYCOGEN STORAGE DISEASE IXa1",1644,5,"0.7599745654210066"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","Abnormality of the eye"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","Abnormality of the immune system"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","Abnormality of the eye"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","Abnormality of the immune system"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106"]
["C3280266","NARCOLEPSY 7",1629,5,"-0.2147329552818631"]
["C4310800","SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",1629,5,"0.6853346079299106"]
["C3539010","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",1594,5,"1.0"]
["C3542026","PEROXISOME BIOGENESIS DISORDER 5B",1594,5,"1.0"]
["C3553940","PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)",1594,5,"1.0"]
["C3553941","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",1594,5,"1.0"]
["C3553942","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",1594,5,"1.0"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","Abnormality of metabolism/homeostasis"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365","Abnormality of metabolism/homeostasis"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","Abnormality of head or neck"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","Abnormality of the integument"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126","Abnormality of the integument"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734"]
["C3554105","PERRAULT SYNDROME 2",1551,5,"0.24707933299286597"]
["C3808414","PERRAULT SYNDROME 3",1551,5,"0.31581968578772746"]
["C3809105","PERRAULT SYNDROME 4",1551,5,"0.5180309817283943"]
["C4310761","HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",1551,5,"0.31372328962368096"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355"]
["C3810230","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6",1501,5,"-0.04945486343765596"]
["C4020811","Length dependent motor neuropathy",1501,5,"0.4003814008500861"]
["C0023501","Leukemoid Reaction",1493,5,"0.5419678429417788"]
["C0259743","Autosomal recessive SCID",1493,5,"0.5419678429417788"]
["C0451694","Severe combined immunodeficiency with low or normal B-cell numbers",1493,5,"0.6248151313098189"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788"]
["C3809383","IMMUNODEFICIENCY 8",1493,5,"0.08153646319258152"]
["C1306557","Chronic venous insufficiency",1490,5,"0.4197229613425671"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787"]
["C4024769","Reticular pigmentary degeneration",1490,5,"0.8097167702994019","Abnormality of the eye"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932"]
["C3280203","WARBURG MICRO SYNDROME 3",1435,5,"-0.06258504762671371"]
["C3280214","WARBURG MICRO SYNDROME 2",1435,5,"0.23112283544863307"]
["C3810265","WARBURG MICRO SYNDROME 4",1435,5,"-0.06942722286925986"]
["C0267809","Cirrhosis, Cryptogenic",1431,5,"0.999597534729279"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232"]
["C1876166","Endemic Tyrolean Infantile Cirrhosis",1431,5,"0.9996601104552232"]
["C0009451","Communicating Hydrocephalus",1423,5,"0.8396907037589559","Abnormality of the nervous system"]
["C0270720","Hydrocephalus Ex-Vacuo",1423,5,"0.9282510595005322"]
["C0477432","Post-Traumatic Hydrocephalus",1423,5,"0.9282510595005322"]
["C0549423","Obstructive Hydrocephalus",1423,5,"0.8902721931853674","Abnormality of the nervous system"]
["C2936786","Aqueductal Stenosis",1423,5,"0.875456687988016","Abnormality of the nervous system"]
["C0155760","Rupture of artery",1420,5,"0.6702383025982454"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911"]
["C2936777","Nevo syndrome (disorder)",1420,5,"0.6160724138576151"]
["C4023719","Spontaneous rupture of the globe",1420,5,"0.6160724138576151","Abnormality of the eye"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264","Abnormality of the nervous system"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842","Abnormality of the nervous system"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952","Abnormality of the nervous system"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952"]
["C0752196","Ballismus",1418,5,"0.8988442563550952"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075"]
["C1306229","Dyschromatosis universalis",1386,5,"0.9205461551351056"]
["C1836705","Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",1386,5,"0.9205461551351056"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992"]
["C3281027","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7",1386,5,"0.9205461551351056"]
["C3809394","DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3",1386,5,"0.9205461551351056"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988"]
["C0085293","Hepatitis E",1360,5,"0.32903898421665645"]
["C0276609","Acute type B viral hepatitis",1360,5,"0.6354784963878342"]
["C0520788","Posttransfusion viral hepatitis",1360,5,"0.49133120035388833"]
["C0814152","Viral hepatitis, type G",1360,5,"0.266753976030262"]
["C3839044","Compensated liver disease",1360,5,"0.4712488114866798"]
["C0152457","Kayser-Fleischer ring",1358,5,"0.33703077800327974","Abnormality of the eye"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894","Abnormality of the immune system"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894","Abnormality of the digestive system"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783","Abnormality of the immune system"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783","Abnormality of the digestive system"]
["C4024907","Mixed demyelinating and axonal polyneuropathy",1358,5,"0.4261864154025783","Abnormality of the nervous system"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105"]
["C3809719","ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",1340,5,"0.704759334739796"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042","Abnormality of the integument"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042","Abnormality of limbs"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843"]
["C2910342","Inherited keratosis palmaris et plantaris",1205,5,"0.9758777861766843"]
["C2910343","Keratosis follicularis [Darier-White]",1205,5,"0.9758777861766843"]
["C4024891","Hyperkeratosis with erythema",1205,5,"0.9758777861766843","Abnormality of the integument"]
["C0342549","Familial Testotoxicosis",1189,5,"0.7986635229057605"]
["C1504412","Testotoxicosis",1189,5,"0.9446853246923097"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097"]
["C0001623","Adrenal gland hypofunction",1181,5,"-0.13489356862675858","Abnormality of the endocrine system"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558"]
["C3151406","SPERMATOGENIC FAILURE 8",1181,5,"0.6890546489703558"]
["C4479664","ADRENAL INSUFFICIENCY, NR5A1-RELATED",1181,5,"0.6890546489703558"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383"]
["C0027121","Myositis",1129,5,"0.7716076278102184","Abnormality of the immune system"]
["C0027121","Myositis",1129,5,"0.7716076278102184","Abnormality of the musculature"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149"]
["C1839928","IRIS HYPOPLASIA WITH GLAUCOMA",1128,5,"0.961006916034191"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191"]
["C1866561","Glaucoma Iridogoniodysplasia, Familial",1128,5,"0.961006916034191"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191"]
["C0264694","Chronic myocardial ischemia",1118,5,"0.0008821836519978632"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466"]
["C1837839","CARDIOMYOPATHY, DILATED, 1O",1118,5,"0.7584832467371466"]
["C3279695","ATRIAL FIBRILLATION, FAMILIAL, 12",1118,5,"0.7584832467371466"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696"]
["C1861306","Synostosis of Talus and Calcaneus with Short Stature",1108,5,"0.9539326140162592"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592"]
["C3714899","SYMPHALANGISM, PROXIMAL, 1A",1108,5,"0.933751820815308"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749"]
["C3150987","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",1036,5,"0.7853360683812317"]
["C4023515","Dialeptic seizures",1036,5,"0.8967851343553571"]
["C4049830","Focal seizures, afebril",1036,5,"0.8967851343553571","Abnormality of the nervous system"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0"]
["C1852587","EPILEPSY, BENIGN NEONATAL, 1",1035,5,"1.0"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0"]
["C3149074","SEIZURES, BENIGN FAMILIAL NEONATAL, 1",1035,5,"1.0"]
["C3149075","SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",1035,5,"1.0"]
["C0152216","Esophoria",1016,5,"1.0"]
["C1836929","Emanuel syndrome",1016,5,"1.0"]
["C1861129","Takao VCF Syndrome",1016,5,"1.0"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0"]
["C3150966","Supernumerary der(22)t(8"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293"]
["C0029191","Orchitis",1002,5,"0.22429933198955482","Abnormality of the genitourinary system"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258","Abnormality of head or neck"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258","Abnormality of the immune system"]
["C0149745","Oral Ulcer",1002,5,"-0.02283327277077203","Abnormality of head or neck"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616","Abnormality of head or neck"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616","Abnormality of the immune system"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656"]
["C1096274","Corneal thinning",974,5,"0.6577658267875326","Abnormality of the eye"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817","Abnormality of the immune system"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817","Abnormality of the digestive system"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861"]
["C0015456","Facial Dermatoses",941,5,"1.0"]
["C0015704","Favre-Racouchot Syndrome",941,5,"1.0"]
["C0343097","Nodular Elastoidosis",941,5,"1.0"]
["C3151189","C9 Deficiency",941,5,"1.0"]
["C3810042","MACULAR DEGENERATION, AGE-RELATED, 15",941,5,"1.0"]
["C0149841","Benign recurrent intrahepatic cholestasis",930,5,"-0.21421721799221513"]
["C0268312","Progressive intrahepatic cholestasis (disorder)",930,5,"0.19100678841023794"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125"]
["C0742395","Cholestasis, chronic",930,5,"0.046384677680306186"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329"]
["C1864567","CATARACT, POSTERIOR POLAR, 4 (disorder)",917,5,"0.9202954405633545"]
["C1970386","Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",917,5,"0.9202954405633545"]
["C3808029","CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES",917,5,"0.9202954405633545"]
["C4305131","Cataract glaucoma syndrome",917,5,"0.9202954405633545"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658"]
["C3278148","BERNARD-SOULIER SYNDROME, TYPE A1",900,5,"0.935479939014467"]
["C0270733","Striatonigral Degeneration",886,5,"0.63782679517134"]
["C0393911","Pure Autonomic Failure",886,5,"0.6358882719830289"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372"]
["C3551954","COENZYME Q10 DEFICIENCY, PRIMARY, 1",886,5,"0.596994348389225"]
["C0238590","Acrogeria",836,5,"0.917843561336474"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474"]
["C1853365","AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1",836,5,"0.917843561336474"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765"]
["C1858154","CARDIOMYOPATHY, DILATED, 1I",832,5,"0.8344094586458832"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757","Abnormality of the musculature"]
["C3809137","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R",832,5,"0.8344094586458832"]
["C0085623","Akinesia",821,5,"0.12382033685444625","Abnormality of the nervous system"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081","Abnormality of prenatal development or birth"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023"]
["C4225367","MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"0.18646269144342278"]
["C4225368","MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"-0.13461018234663405"]
["C1836694","Striatal Degeneration, Autosomal Dominant",820,5,"1.0"]
["C3280094","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",820,5,"1.0"]
["C4022417","Degeneration of the striatum",820,5,"1.0","Abnormality of the nervous system"]
["C4024947","Symmetric lesions of the basal ganglia",820,5,"1.0","Abnormality of the nervous system"]
["C4310808","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",820,5,"1.0"]
["C1449718","Endocrine Breast Diseases",816,5,"1.0"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0"]
["C1851879","Cleft Lip with or without Cleft Palate, Nonsyndromic, 8",816,5,"1.0"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612","Abnormality of the cardiovascular system"]
["C0264906","Second degree atrioventricular block",788,5,"0.955702896673057","Abnormality of the cardiovascular system"]
["C3554018","SINOATRIAL NODE DYSFUNCTION AND DEAFNESS",788,5,"0.955702896673057"]
["C3809609","PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",788,5,"0.955702896673057"]
["C4023501","Focal myoclonic seizures",788,5,"0.955702896673057","Abnormality of the nervous system"]
["C0008525","Choroideremia",784,5,"0.005265973717552532","Abnormality of the eye"]
["C0344297","Choroidal sclerosis",784,5,"0.5706909950367378"]
["C1536451","Central areolar choroidal sclerosis",784,5,"0.08872272413980947"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146"]
["C2931258","Amaurosis congenita of Leber, type 1",784,5,"0.32651852497600636"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668"]
["C1955768","Potassium sensitive periodic paralysis",771,5,"0.999680409462536"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536"]
["C2875318","Myotonic periodic paralysis (familial)",771,5,"0.999680409462536"]
["C2875319","Normokalemic paralysis (familial)",771,5,"0.999680409462536"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966","Abnormality of the nervous system"]
["C0271683","Polyneuropathy, Motor",752,5,"0.6097223738829489","Abnormality of the nervous system"]
["C0393851","Polyneuropathy, Critical Illness",752,5,"0.6954672334595603"]
["C0751448","Polyneuropathy, Familial",752,5,"0.7015166355769995"]
["C0751449","Acquired Polyneuropathy",752,5,"0.6954672334595603"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0","Abnormality of the genitourinary system"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0","Abnormality of metabolism/homeostasis"]
["C0018022","Endemic goiter",678,5,"0.622590013900868"]
["C0302859","Euthyroid Goiter",678,5,"0.8190903156047202","Abnormality of the endocrine system"]
["C0342208","Multinodular goiter",678,5,"0.6026990144130777","Abnormality of the endocrine system"]
["C1846034","Euthyroid multinodular goiter",678,5,"0.8674578999222015","Abnormality of the endocrine system"]
["C4053514","Nasal Chondromesenchymal Hamartoma",678,5,"0.8674578999222015"]
["C0151861","Porphyruria",677,5,"0.9634850647942104","Abnormality of metabolism/homeostasis"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103"]
["C0342860","Homozygous variegate porphyria",677,5,"0.9634850647942104"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885"]
["C3149848","VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT",677,5,"0.9634850647942104"]
["C0272315","Coagulation factor deficiency syndrome",639,5,"0.4016372355927287"]
["C0272323","Moderate hereditary factor VIII deficiency disease",639,5,"0.6706288898742829"]
["C0472801","Hemophilia A carrier",639,5,"0.7816274237700827"]
["C1096116","Acquired haemophilia",639,5,"0.8585073024109673"]
["C2873785","Deficiency of factor V [labile]",639,5,"0.8585073024109673"]
["C0151281","Genital ulcers",626,5,"1.0","Abnormality of the genitourinary system"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0"]
["C1865371","SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",626,5,"1.0"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0"]
["C1865373","SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",626,5,"1.0"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","Abnormality of head or neck"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","Abnormality of the skeletal system"]
["C0477324","Other combined immunodeficiencies",625,5,"0.5070714535312029"]
["C1832322","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",625,5,"0.7021714179644835"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772"]
["C0023003","Langer-Giedion Syndrome",619,5,"0.6029616457186685"]
["C0265255","Trichorhinophalangeal syndrome",619,5,"0.8493397346442323"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162"]
["C1860826","Coxa Magna",619,5,"0.9269340348085162","Abnormality of the skeletal system"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792","Abnormality of the nervous system"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792","Abnormality of metabolism/homeostasis"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692"]
["C4022179","Stenosis of the medullary cavity of the long bones",615,5,"0.47691330616982575","Abnormality of the skeletal system"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747"]
["C0021099","Impetigo",596,5,"0.7394560861547314"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775"]
["C0036285","Scarlet Fever",596,5,"0.7394560861547314"]
["C0036689","Streptococcal sore throat",596,5,"0.4528640899527099"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842"]
["C1291314","Deficiency of monooxygenase",594,5,"0.638464011983188"]
["C1291557","Deficiency of lyase",594,5,"0.8755887536869028"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017"]
["C4329212","17-Alpha-Hydroxylase/17,20 Lyase Deficiency",594,5,"0.8972134193349166"]
["C0043325","Xanthomatosis",584,5,"-0.28826065805726636","Abnormality of the integument"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875","Abnormality of head or neck"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875","Abnormality of the integument"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334","Abnormality of the skeletal system"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334","Abnormality of the integument"]
["C0302314","Xanthoma",584,5,"0.23136353835168352","Abnormality of head or neck"]
["C0302314","Xanthoma",584,5,"0.23136353835168352","Abnormality of the integument"]
["C4280602","Xanthelasma of periocular region",584,5,"0.38020978048416476"]
["C0004608","Retinopathy background",579,5,"0.5498824121417797"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859"]
["C0423361","Posterior Vitreous Detachment",579,5,"0.2491610862225742","Abnormality of the eye"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708"]
["C4072980","Exudative vitreoretinopathy",579,5,"0.6501299474582313","Abnormality of the eye"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835","Abnormality of the eye"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065","Abnormality of the eye"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054"]
["C3887937","CONE DYSTROPHY 5, X-LINKED",569,5,"0.6526334772650098"]
["C3887938","COLORBLINDNESS, PARTIAL, DEUTAN SERIES",569,5,"0.6411923191078364"]
["C0024586","Malignant Carcinoid Syndrome",542,5,"1.0"]
["C0342777","Succinate-coenzyme Q reductase deficiency",542,5,"1.0"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0"]
["C3532243","Fatal infantile mitochondrial cardiomyopathy",542,5,"1.0"]
["C3554516","COWDEN SYNDROME 3",542,5,"1.0"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587"]
["C0239816","Hand eczema",529,5,"0.8374027201381419"]
["C1304345","Occupational irritant contact dermatitis",529,5,"0.8520279601616959"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959"]
["C3662483","Allergic sensitization",529,5,"0.36999745758899866"]
["C0857069","Chronic candidiasis",526,5,"1.0"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","Abnormality of the skeletal system"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299","Abnormality of the skeletal system"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","Abnormality of the nervous system"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","Abnormality of the integument"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986","Neoplasm"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458"]
["C0019295","Inguinal Hernia, Direct",496,5,"1.0"]
["C0019296","Inguinal Hernia, Indirect",496,5,"1.0"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0"]
["C2674876","LOEYS-DIETZ SYNDROME, TYPE 1B",496,5,"1.0"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","Abnormality of the skeletal system"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899"]
["C0333997","Lymphoid hyperplasia",486,5,"0.4251036218063374"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244"]
["C0281967","Retinal infarction",471,5,"0.9949322243477006","Abnormality of the eye"]
["C1846837","Aortic Aneurysm, Familial Thoracic 2",471,5,"0.9949322243477006"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447"]
["C3151201","MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME",471,5,"0.9949322243477006"]
["C3279690","MOYAMOYA DISEASE 5",471,5,"0.9949322243477006"]
["C0012819","Diverticular disease of colon",459,5,"0.3302093137892965","Abnormality of the digestive system"]
["C0149754","Cellulitis of periorbital region",459,5,"0.3207606961331051"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293","Abnormality of the cardiovascular system"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293","Abnormality of the respiratory system"]
["C4025788","Nystagmus-induced head nodding",459,5,"0.4324756212869811","Abnormality of the eye"]
["C0021933","Intussusception",442,5,"0.1303982126527871","Abnormality of the digestive system"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964"]
["C0282207","Cronkhite-Canada Syndrome",442,5,"0.7870149386653003"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682","Neoplasm"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682","Abnormality of the digestive system"]
["C1333088","Colonic hamartomatous polyps",442,5,"0.7870149386653003"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383"]
["C0175708","Chronic rheumatic heart disease",421,5,"0.7649934920516644"]
["C0543698","Hypersensitive syndrome",421,5,"0.6531657451922412"]
["C2363973","Chronic thromboembolic pulmonary hypertension",421,5,"0.7649934920516644"]
["C3697982","Pulmonary arterial hypertension associated with connective tissue disease",421,5,"0.7649934920516644"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077"]
["C1866121","Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive",404,5,"0.9118170574071562"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333"]
["C2700265","Waardenburg Syndrome Type 2",397,5,"0.038494415989644315"]
["C2700405","WAARDENBURG SYNDROME, TYPE IIE",397,5,"0.7457627395862221"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832"]
["C1504404","Hippocampal sclerosis",377,5,"0.08852767818615044"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466"]
["C3539123","CEROID LIPOFUSCINOSIS, NEURONAL, 11",377,5,"0.8127624006985731"]
["C4022574","Limb apraxia",377,5,"0.8127624006985731","Abnormality of the nervous system"]
["C4275079","Posterior cortical atrophy syndrome",377,5,"0.8127624006985731"]
["C0270951","Ocular muscular dystrophy",375,5,"0.9975255625889035"]
["C2875311","Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy",375,5,"0.9975255625889035"]
["C2875312","Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]",375,5,"0.9975255625889035"]
["C2875313","Severe [Duchenne] muscular dystrophy",375,5,"0.9897582487876501"]
["C3264046","Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber",375,5,"0.9975255625889035"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083","Abnormality of the integument"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716","Abnormality of the integument"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365"]
["C4021534","Adult onset sensorineural hearing impairment",350,5,"0.6684020847974365","Abnormality of the ear"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815"]
["C3151038","ACNE INVERSA, FAMILIAL, 3",344,5,"0.9996247206634815"]
["C3160720","Cardiomyopathy, Dilated, 1u",344,5,"0.9996247206634815"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208"]
["C2829265","DEAFNESS, AUTOSOMAL RECESSIVE 86",327,5,"0.9411293476366208"]
["C3809173","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16",327,5,"0.6826169017122271"]
["C3892048","DEAFNESS, AUTOSOMAL DOMINANT 65",327,5,"0.9411293476366208"]
["C0023600","Leydig cell hyperplasia",308,5,"0.9936041361873322","Abnormality of the genitourinary system"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322"]
["C0342386","Follicle stimulating hormone deficiency",308,5,"0.9936041361873322"]
["C0403824","Teratozoospermia",308,5,"0.9753882553379186","Abnormality of the genitourinary system"]
["C1856716","Follicle-stimulating hormone deficiency, isolated",308,5,"0.9927611091750643"]
["C0394004","Congenital non-progressive ataxia",285,5,"0.9487477937836131"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585"]
["C4274987","Spinocerebellar ataxia type 29",285,5,"0.9487477937836131"]
["C0221405","Pituitary cachexia",283,5,"0.9999999999999991"]
["C0271577","Isolated gonadotropin deficiency",283,5,"0.9999999999999991"]
["C0342381","Idiopathic growth hormone deficiency",283,5,"0.9999999999999991"]
["C2874188","Isolated deficiency of pituitary hormone",283,5,"0.9999999999999991"]
["C2874190","Pituitary short stature",283,5,"0.9999999999999991"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785"]
["C0008058","Chilblains",206,5,"1.0"]
["C0275544","Congenital infectious disease",206,5,"1.0"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0"]
["C3150315","AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",206,5,"1.0"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953"]
["C1835875","Normocytic hypoplastic anemia",203,5,"0.997303787706911","Abnormality of blood and blood-forming tissues"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103"]
["C0341047","Hypertrophy of parotid gland",174,5,"0.9983831783696103","Abnormality of head or neck"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306"]
["C0221028","Neonatal thrombocytopenia (disorder)",133,5,"0.8635815007906218"]
["C0598221","Hereditary protein C deficiency",133,5,"0.8635815007906218"]
["C2585959","Homozygous protein C deficiency",133,5,"0.8635815007906218"]
["C2585960","Heterozygous protein C deficiency",133,5,"0.8635815007906218"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","Abnormality of the integument"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","Abnormality of the immune system"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498","Abnormality of the digestive system"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498"]
["C4012050","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1",120,5,"0.7817917811240498"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537"]
["C0031106","Periodontitis, Juvenile",96,5,"0.9124733506672643"]
["C0600298","Periodontosis",96,5,"0.9774677082030622"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719","Abnormality of the skeletal system"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074"]
["C0155616","Secondary hypertension",49,5,"0.8223626374010304"]
["C0264638","Low-renin essential hypertension",49,5,"0.8223626374010304"]
["C0264641","Endocrine hypertension",49,5,"0.8223626374010304"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368"]
["C4511620","Autosomal dominant tubulointerstitial kidney disease",49,5,"0.1442801985459706"]
["C0730278","Severe nonproliferative diabetic retinopathy",43,5,"0.9843506110917806"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156","Abnormality of blood and blood-forming tissues"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156","Neoplasm"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806"]
["C3554321","BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",43,5,"0.9843506110917806"]
["C4225270","KOSAKI OVERGROWTH SYNDROME",43,5,"0.9843506110917806"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414"]
["C1852242","Nonarteritic anterior ischemic optic neuropathy (NAION)",41,5,"0.8646401604930963","Abnormality of the eye"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694"]
["C4024935","Subcortical dementia",41,5,"0.8646401604930963","Abnormality of the nervous system"]
["C2584611","Hereditary protein S deficiency",35,5,"1.0"]
["C3278211","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",35,5,"1.0"]
["C3281092","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",35,5,"1.0"]
["C3502051","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",35,5,"1.0"]
["C3502052","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",35,5,"1.0"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282"]
["C0027013","Myeloid Metaplasia",33,5,"0.6234898378908553"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282"]
["C4022560","Splanchnic vein thrombosis",33,5,"0.6234898378908553","Abnormality of blood and blood-forming tissues"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118","Abnormality of the integument"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118","Abnormality of the cardiovascular system"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398"]
["C0338573","Cerebral venous sinus thrombosis",18,5,"0.8268104579573398"]
["C3203356","Factor II deficiency",18,5,"0.8268104579573398"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582"]
["C0268123","Muscle AMP deaminase deficiency",2139,4,"0.7930888377878672"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834"]
["C3714933","MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY",2139,4,"0.549760968191284"]
["C0162677","Caliciviridae Infections",2117,4,"1.0"]
["C0206044","Infections, Calicivirus",2117,4,"1.0"]
["C2712971","Enteritis due to Norovirus",2117,4,"1.0"]
["C3534585","Infection caused by Norovirus",2117,4,"1.0"]
["C0477729","Other chronic tubulo-interstitial nephritis",2104,4,"1.0"]
["C1392616","Nonobstructive chronic pyelonephritis NOS",2104,4,"1.0"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0"]
["C3553774","INTERSTITIAL NEPHRITIS, KARYOMEGALIC",2104,4,"1.0"]
["C0154207","Other specified disorders of adrenal gland",2093,4,"1.0"]
["C0271749","Abnormality of cortisol-binding globulin",2093,4,"1.0"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0"]
["C1969107","Corticosteroid-Binding Globulin, Elevated",2093,4,"1.0"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0","Abnormality of the nervous system"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0","Abnormality of the endocrine system"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0"]
["C3887992","THYROTROPIN-RELEASING HORMONE DEFICIENCY",2066,4,"1.0"]
["C0014556","Epilepsy, Temporal Lobe",2052,4,"0.6995476836933364"]
["C0014558","Uncinate Epilepsy",2052,4,"0.90625446164869"]
["C0393672","Epilepsy, Benign Psychomotor, Childhood",2052,4,"0.90625446164869"]
["C0393682","Epilepsy, Lateral Temporal",2052,4,"0.9057152939271543"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433"]
["C0009088","Cluster Headache",2026,4,"0.10847072985948918","Abnormality of the nervous system"]
["C0854739","Advanced sleep phase",2026,4,"0.7471456632218765"]
["C0854740","Delayed sleep phase",2026,4,"0.7471456632218765"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259"]
["C0265241","Franceschetti-Klein syndrome",2006,4,"0.5350980980337097"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804"]
["C3150983","TREACHER COLLINS SYNDROME 2",2006,4,"0.18259377074664826"]
["C4225305","LEUKODYSTROPHY, HYPOMYELINATING, 11",2006,4,"0.43718790385001804"]
["C1834659","Muscular dystrophy, limb-girdle, type 1A",2002,4,"1.0"]
["C1836607","MYOTILINOPATHY",2002,4,"1.0"]
["C1866785","Spheroid body myopathy",2002,4,"1.0"]
["C3714934","MYOPATHY, MYOFIBRILLAR, 3",2002,4,"1.0"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195"]
["C4479357","ANAUXETIC DYSPLASIA 2",1965,4,"0.20955860028436096"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0"]
["C3150681","CARDIOMYOPATHY, DILATED, 1R",1955,4,"1.0"]
["C3150682","LEFT VENTRICULAR NONCOMPACTION 4",1955,4,"1.0"]
["C1864171","Peroxisome Biogenesis Disorder, Complementation Group 12",1937,4,"1.0"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0"]
["C3553999","PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)",1937,4,"1.0"]
["C4479254","PEROXISOME BIOGENESIS DISORDER 10B",1937,4,"1.0"]
["C0040820","Trematode Infections",1925,4,"0.18360826675399552"]
["C0151740","Intracranial Hypertension",1925,4,"-0.006788146055624757","Abnormality of the nervous system"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284"]
["C3810212","JOUBERT SYNDROME 21",1902,4,"-0.0016848070386000556"]
["C4084822","JOUBERT SYNDROME 23",1902,4,"0.5096217763521104"]
["C4225286","SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",1902,4,"0.5096217763521104"]
["C4518774","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",1902,4,"0.5516313445750163"]
["C0014544","Epilepsy",1901,4,"0.5069372905650225","Abnormality of the nervous system"]
["C0086237","Epilepsy, Cryptogenic",1901,4,"0.5300347625933439"]
["C0543888","Epileptic encephalopathy",1901,4,"-0.028323523327071172","Abnormality of the nervous system"]
["C0751111","Awakening Epilepsy",1901,4,"0.5298326275394245"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878"]
["C1864902","Hyperinsulinemic hypoglycemia, familial, 7",1872,4,"0.8835242099319878"]
["C1864904","Exercise-induced hyperinsulinism",1872,4,"0.6838780716446347"]
["C4015186","MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY",1872,4,"0.8835242099319878"]
["C0029410","Osteoarthritis of hip",1871,4,"0.6120331263438924","Abnormality of the skeletal system"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982"]
["C1851537","Fairbank disease",1871,4,"0.8840146461282982"]
["C1851538","Epiphyseal Dysplasia, Ribbing Type",1871,4,"0.8840146461282982"]
["C0015652","Fascioliasis",1867,4,"0.6277408674588577"]
["C0268576","Hyperleucinemia",1867,4,"0.3830044297417646","Abnormality of metabolism/homeostasis"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182"]
["C1847555","Hyperinsulinemic hypoglycemia, familial, 6",1867,4,"0.3830044297417646"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787"]
["C1834330","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",1858,4,"0.4806017775377787"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749"]
["C4024765","Peripapillary chorioretinal atrophy",1858,4,"0.6666053456996756","Abnormality of the eye"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324"]
["C3809004","CATARACT 19, MULTIPLE TYPES",1841,4,"0.2355600140911948"]
["C3888097","CATARACT 21, MULTIPLE TYPES",1841,4,"0.4010445085297324"]
["C4021568","Cortical pulverulent cataract",1841,4,"0.6346485928827926","Abnormality of the eye"]
["C0152439","Retinoschisis",1820,4,"0.9186218991170633","Abnormality of the eye"]
["C0271091","Retinoschisis, Juvenile, X-Linked",1820,4,"0.967418984468633"]
["C1137478","Retinoschisis, Degenerative",1820,4,"0.9750308190586006"]
["C3714753","RETINOSCHISIS 1, X-LINKED, JUVENILE",1820,4,"0.9726649304899302"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0"]
["C1861826","Cataract, Nuclear Total",1817,4,"1.0"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0"]
["C3805412","CATARACT 41",1817,4,"1.0"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259","Abnormality of the nervous system"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959"]
["C3541471","MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",1809,4,"0.9878541601856959"]
["C0280962","Bone Marrow Suppression",1796,4,"1.0"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0"]
["C0948168","Bone marrow toxicity",1796,4,"1.0"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968"]
["C1846148","Sketetal dysplasia coarse facies mental retardation",1788,4,"0.9741494579900968"]
["C3151753","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6",1788,4,"0.9244309229690109"]
["C0017574","Gingivitis",1748,4,"0.04739206181505732","Abnormality of head or neck"]
["C0037856","Spermatic Cord Torsion",1748,4,"0.6181679809665507","Abnormality of the genitourinary system"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469"]
["C3809210","EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",1748,4,"0.43588492187803807"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0"]
["C3149009","DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",1746,4,"1.0"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0"]
["C0271514","Low frequency deafness",1745,4,"0.347282503437948","Abnormality of the ear"]
["C0452138","Sensorineural hearing loss, bilateral",1745,4,"-0.20938443561920492","Abnormality of the ear"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353"]
["C4225261","SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",1745,4,"0.44422495207280704"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728"]
["C3551716","CORTISONE REDUCTASE DEFICIENCY 1",1729,4,"0.16236178820229905"]
["C3553382","CORTISONE REDUCTASE DEFICIENCY 2",1729,4,"0.5058751906815325"]
["C4329210","11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency",1729,4,"0.5058751906815325"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695"]
["C0262404","Cerebellar degeneration",1722,4,"0.7031135972786946","Abnormality of the nervous system"]
["C0740279","Cerebellar atrophy",1722,4,"0.7005062606470862","Abnormality of the nervous system"]
["C4020873","Infratentorial atrophy",1722,4,"0.6978889253026573"]
["C1840061","SMALL PATELLA SYNDROME",1717,4,"1.0"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0"]
["C3150607","CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME",1717,4,"1.0"]
["C3150880","CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME",1717,4,"1.0"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856"]
["C1863998","Peroxisome Biogenesis Disorder, Complementation Group 9",1681,4,"0.9927955443639027"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419"]
["C3553959","PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)",1681,4,"0.9927955443639027"]
["C3553960","PEROXISOME BIOGENESIS DISORDER 8B",1681,4,"0.9927955443639027"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615"]
["C4304537","2p21 microdeletion syndrome",1675,4,"0.45075156801676186"]
["C4479088","MYASTHENIC SYNDROME, CONGENITAL, 22",1675,4,"0.19642155432468647"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124"]
["C0268322","Chester-type porphyria",1673,4,"0.998639274498678"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949","Abnormality of the skeletal system"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838"]
["C1853576","Diamond-Blackfan Anemia With Microtia And Cleft Palate",1662,4,"0.3801539584392106"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562"]
["C4225411","DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C4225422","DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174"]
["C3808977","CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4",1652,4,"0.513711257906384"]
["C3539168","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",1638,4,"0.9950495777552114"]
["C3553950","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",1638,4,"0.9983473780603996"]
["C3553951","PEROXISOME BIOGENESIS DISORDER 7B",1638,4,"0.9983473780603996"]
["C3888385","PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)",1638,4,"0.9983473780603996"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673"]
["C4310710","PEELING SKIN SYNDROME 5",1634,4,"0.19567187405639985"]
["C0085661","Onycholysis",1633,4,"0.024481775884359718","Abnormality of the integument"]
["C1840299","Hypotrichosis Simplex of Scalp",1633,4,"0.3757649689346729"]
["C3151432","HYPOTRICHOSIS 3",1633,4,"0.5011821529645496"]
["C3554117","ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",1633,4,"0.5011821529645496"]
["C0038395","Streptococcal Infections",1632,4,"0.869913117644807"]
["C0477316","Other specified coagulation defects",1632,4,"0.9667125729033856"]
["C2752081","ALPHA-2-PLASMIN INHIBITOR DEFICIENCY",1632,4,"0.9667125729033856"]
["C3489734","Anti-plasmin deficiency, congenital",1632,4,"0.9667125729033856"]
["C0235927","Vestibulocerebellar ataxia",1631,4,"0.6508862232903943"]
["C1837007","DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C3149566","DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C4015050","DEAFNESS, AUTOSOMAL RECESSIVE 103",1631,4,"0.2208888695984414"]
["C0454455","Mirror movements disorder",1630,4,"0.19435850177653452","Abnormality of the nervous system"]
["C3281089","MIRROR MOVEMENTS 2",1630,4,"0.40235211863948145"]
["C4284093","FANCONI ANEMIA, COMPLEMENTATION GROUP R",1630,4,"0.40235211863948145"]
["C4479640","GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2",1630,4,"0.02990250378864007"]
["C0342776","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency",1618,4,"0.25523039551124216"]
["C1838979","MITOCHONDRIAL COMPLEX I DEFICIENCY",1618,4,"0.6897253478517794"]
["C1855020","Acute necrotizing encephalopathy",1618,4,"0.583536851355696","Abnormality of the nervous system"]
["C2936907","NADH:Q(1) Oxidoreductase deficiency",1618,4,"0.6809300075488732"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577"]
["C3280182","ADAMS-OLIVER SYNDROME 2",1612,4,"0.11945273048497816"]
["C3809092","ADAMS-OLIVER SYNDROME 4",1612,4,"0.14968814822119603"]
["C4225271","ADAMS-OLIVER SYNDROME 6",1612,4,"0.1448909977210813"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583"]
["C3807327","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",1607,4,"0.20439008138949824"]
["C3808874","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",1607,4,"0.18234632393097386"]
["C4225169","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",1607,4,"0.1608018100036085"]
["C0270612","Leukoencephalopathies",1606,4,"0.1354334035343468","Abnormality of the nervous system"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693"]
["C1858991","Childhood Ataxia with Central Nervous System Hypomyelinization",1606,4,"0.6702942031271522"]
["C2960129","Vanishing white matter disease",1606,4,"0.5511014316085664"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985"]
["C2673883","RENAL-HEPATIC-PANCREATIC DYSPLASIA",1582,4,"0.5605354023863534"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294"]
["C3715199","RENAL-HEPATIC-PANCREATIC DYSPLASIA 1",1582,4,"0.8928033303679691"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","Abnormality of the endocrine system"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","Abnormality of metabolism/homeostasis"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601"]
["C0276096","Mastitis-metritis-agalactia syndrome",1556,4,"0.9271554973832203"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636"]
["C0271165","Punctate cataract",1542,4,"0.47328110646957205","Abnormality of the eye"]
["C1832175","Cataract, Congenital, Cerulean Type, 2",1542,4,"-0.10506018421842693"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205"]
["C4023734","Sutural cataract",1542,4,"0.0","Abnormality of the eye"]
["C0034067","Pulmonary Emphysema",1528,4,"0.8699255454217851","Abnormality of the respiratory system"]
["C0221227","Centriacinar Emphysema",1528,4,"0.9580362960754452"]
["C0264393","Panacinar Emphysema",1528,4,"0.9590502617079391"]
["C2350878","Focal Emphysema",1528,4,"0.9580362960754452"]
["C0014799","Erythroderma, Maculopapular",1505,4,"0.9999999999999991"]
["C0030437","Parakeratosis Variegata",1505,4,"0.9999999999999991"]
["C0030491","Parapsoriasis",1505,4,"0.9999999999999991"]
["C0162442","Parapsoriasis en Plaques",1505,4,"0.9999999999999991"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772","Abnormality of the genitourinary system"]
["C1261175","Pontoneocerebellar hypoplasia",1477,4,"0.3620903754809383"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736"]
["C3553449","PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",1477,4,"0.1990711850354729"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051"]
["C3150596","MONONEUROPATHY OF THE MEDIAN NERVE, MILD",1475,4,"0.4310433328408051"]
["C4082197","Charcot-Marie-Tooth disease type 4",1475,4,"0.554045516085599"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848","Abnormality of the nervous system"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517"]
["C4020854","Neuro-degenerative disease",1464,4,"0.23052351604307295","Abnormality of the nervous system"]
["C0003851","Arteriosclerosis Obliterans",1452,4,"0.7908589129385872"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","Abnormality of the endocrine system"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","Abnormality of prenatal development or birth"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374","Abnormality of metabolism/homeostasis"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488"]
["C0157743","Vibratory urticaria",1448,4,"1.0"]
["C0473546","Vibratory angioedema",1448,4,"1.0"]
["C1852145","Familial dermographism",1448,4,"1.0"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0"]
["C3278481","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",1439,4,"0.12812216106623717"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314"]
["C4015388","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",1439,4,"0.01222619684657216"]
["C4225362","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",1439,4,"0.17655159511533985"]
["C3150275","COMPLEMENT COMPONENT 2 DEFICIENCY",1438,4,"0.20347883136266592"]
["C3809653","MACULAR DEGENERATION, AGE-RELATED, 14",1438,4,"0.7300673201333486"]
["C3809654","MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF",1438,4,"0.7300673201333486"]
["C3809950","COMPLEMENT FACTOR B DEFICIENCY",1438,4,"0.13172921248628428"]
["C0795830","CHROMOSOME 9p DELETION SYNDROME",1428,4,"1.0"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0"]
["C0472792","Hemolytic anemia due to hexokinase deficiency",1426,4,"1.0"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0"]
["C3150343","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",1426,4,"1.0"]
["C4479526","RETINITIS PIGMENTOSA 79",1426,4,"1.0"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996"]
["C0002886","Anemia, Macrocytic",1397,4,"0.3596136155223349","Abnormality of blood and blood-forming tissues"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268","Abnormality of blood and blood-forming tissues"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096"]
["C4021821","Abnormality of the urinary system",1397,4,"0.6598239688072091","Abnormality of the genitourinary system"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605","Abnormality of the skeletal system"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605","Abnormality of the cardiovascular system"]
["C1260873","Aortic valve disorder",1387,4,"0.5755500314962895"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152"]
["C4014970","ADAMS-OLIVER SYNDROME 5",1387,4,"0.5428075822644881"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011"]
["C0243010","Viral Encephalitis",1385,4,"0.8925961896938558"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558"]
["C0242423","Ramsay Hunt Paralysis Syndrome",1380,4,"0.847252628185406"]
["C0752097","Autosomal Dominant Juvenile Parkinson Disease",1380,4,"0.847252628185406"]
["C0752098","Autosomal Dominant Parkinsonism",1380,4,"0.6879675453470102"]
["C0752104","Familial Juvenile Parkinsonism",1380,4,"0.847252628185406"]
["C1846862","PARKINSON DISEASE 8 (disorder)",1377,4,"0.5166910906744966"]
["C3489791","Parkinson Disease, Familial, Type 1",1377,4,"0.2767184953457182"]
["C4274355","Autosomal dominant late onset Parkinson disease",1377,4,"0.2586934111035029"]
["C4511452","Sporadic Parkinson disease",1377,4,"0.4095633351858349"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063","Abnormality of blood and blood-forming tissues"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063","Abnormality of the immune system"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891"]
["C2931320","T cell immunodeficiency primary",1371,4,"0.9912778369672891"]
["C4310768","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",1371,4,"0.9912778369672891"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222","Abnormality of the genitourinary system"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834","Abnormality of the genitourinary system"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834","Abnormality of metabolism/homeostasis"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375"]
["C0341706","Glycinuria",1356,4,"0.24134093454127567"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","Abnormality of the genitourinary system"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402","Abnormality of metabolism/homeostasis"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186","Abnormality of metabolism/homeostasis"]
["C0311298","Propionic acidemia, type II",1354,4,"0.8538448295626059"]
["C1306587","Acute encephalopathy",1354,4,"0.5554581171325069","Abnormality of the nervous system"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859"]
["C3281138","CHROMOSOME 17q12 DELETION SYNDROME",1350,4,"0.6331844510250144"]
["C1832244","CARDIOMYOPATHY, DILATED, 1C (disorder)",1348,4,"1.0"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0"]
["C3152137","LEFT VENTRICULAR NONCOMPACTION 3",1348,4,"1.0"]
["C4225414","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",1348,4,"1.0"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0","Neoplasm"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0","Abnormality of the digestive system"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","Abnormality of the nervous system"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622"]
["C0002878","Anemia, Hemolytic",1319,4,"0.7722862154642667","Abnormality of blood and blood-forming tissues"]
["C0002879","Anemia, Hemolytic, Acquired",1319,4,"0.9263136988199357"]
["C0002889","Anemia, Microangiopathic",1319,4,"0.9247417218838393"]
["C0221021","Microangiopathic hemolytic anemia",1319,4,"0.9206458597140103","Abnormality of blood and blood-forming tissues"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","Abnormality of the genitourinary system"]
["C0740896","Hypokalemic hypochloremic metabolic alkalosis",1304,4,"0.2844724550683174","Abnormality of metabolism/homeostasis"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696","Abnormality of the genitourinary system"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696","Abnormality of metabolism/homeostasis"]
["C4310805","BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",1304,4,"0.5707009785019546"]
["C0014549","Tonic-Clonic Epilepsy",1299,4,"0.9694464538022375"]
["C0751117","Cryptogenic Tonic-Clonic Epilepsy",1299,4,"0.9897204555042906"]
["C0751118","Epilepsy, Tonic-Clonic, Familial",1299,4,"0.9897204555042906"]
["C0751119","Epilepsy, Tonic-Clonic, Symptomatic",1299,4,"0.9897204555042906"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601"]
["C1861178","Thrombocytopenia Paris-Trousseau type",1276,4,"0.9959254730538218"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218"]
["C4479515","BLEEDING DISORDER, PLATELET-TYPE, 21",1276,4,"0.9959254730538218"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296","Abnormality of the nervous system"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272"]
["C1968845","Primary Lateral Sclerosis, Adult, 1",1273,4,"0.7604457615061272"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","Abnormality of the endocrine system"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","Abnormality of metabolism/homeostasis"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132"]
["C0406369","Lichen planus pemphigoides",1265,4,"0.9523254888813999"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999"]
["C4304724","Late-onset junctional epidermolysis bullosa",1265,4,"0.9523254888813999"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859","Abnormality of the integument"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525"]
["C1847582","Lipodystrophy with Congenital Cataracts and Neurodegeneration",1258,4,"1.0"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0"]
["C3807567","PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME",1258,4,"1.0"]
["C3809192","PULMONARY HYPERTENSION, PRIMARY, 3",1258,4,"1.0"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442"]
["C3553264","JOUBERT SYNDROME 17",1233,4,"0.545036801201581"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827","Abnormality of the musculature"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827","Abnormality of limbs"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255","Abnormality of the digestive system"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189"]
["C1857821","LEBER CONGENITAL AMAUROSIS 10 (disorder)",1224,4,"0.9772479626927189"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383"]
["C4020790","Medullary sponge kidney disease",1222,4,"0.5796980971608529","Abnormality of the genitourinary system"]
["C4024644","Multiple small medullary renal cysts",1222,4,"0.5796980971608529","Abnormality of the genitourinary system"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631"]
["C3279722","MYOPATHY, DISTAL, 4",1218,4,"0.9968577079381988"]
["C4310748","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",1218,4,"0.9968577079381988"]
["C4310749","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",1218,4,"0.9968577079381988"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897"]
["C1862391","ASD I",1210,4,"0.9349126180414541"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541"]
["C1862393","ASD II",1210,4,"0.9349126180414541"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683"]
["C3250443","MYOTONIC DYSTROPHY 1",1208,4,"0.49368672418271026"]
["C0596131","audiogenic seizure",1193,4,"0.7869541890541861"]
["C1401084","Ovarian Insufficiency",1193,4,"0.5846286681209663"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563"]
["C3275521","CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME",1193,4,"0.7869541890541861"]
["C0040963","Tricuspid Valve Stenosis",1192,4,"0.6368290335248984","Abnormality of the cardiovascular system"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853"]
["C3278147","GELEOPHYSIC DYSPLASIA 1",1192,4,"0.03254268110472885"]
["C0015708","Fazio-Londe Syndrome",1187,4,"0.8789814120223987"]
["C0030442","Progressive bulbar palsy",1187,4,"0.8789814120223987"]
["C0393540","Childhood Progressive Bulbar Palsy",1187,4,"0.8789814120223987"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863","Abnormality of the genitourinary system"]
["C0432470","46, XY female",1178,4,"0.6651249785936851"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012"]
["C0342841","Hunter\\'s syndrome, severe form",1176,4,"0.9998335879055861"]
["C0342842","Hunter\\'s syndrome, mild form",1176,4,"0.9998335879055861"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861"]
["C1860752","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",1160,4,"0.9892816288917842"]
["C1861861","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)",1160,4,"0.9683061203126658"]
["C2678474","CARDIOMYOPATHY, DILATED, 2A (disorder)",1160,4,"0.9892816288917842"]
["C2750091","Cardiomyopathy, Dilated, 1FF",1160,4,"0.9892816288917842"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209"]
["C0034362","Q Fever",1152,4,"0.9999999999999998"]
["C0519066","Acute Q fever",1152,4,"0.9999999999999998"]
["C1443892","Chronic Q Fever",1152,4,"0.9999999999999998"]
["C2973787","Coxiella burnetii Infection",1152,4,"0.9999999999999998"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468","Abnormality of head or neck"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468","Abnormality of the skeletal system"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468"]
["C2827469","Coronary Microvascular Disease",1150,4,"0.71346407156482"]
["C0342782","Depletion of mitochondrial DNA",1142,4,"0.5537493321779642"]
["C3149750","MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)",1142,4,"0.897339513924786"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786"]
["C4310734","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",1142,4,"0.897339513924786"]
["C0003756","Arenaviridae Infections",1141,4,"1.0"]
["C0205671","Infections, Arenavirus",1141,4,"1.0"]
["C3714509","Nutrition Disorders",1141,4,"1.0"]
["C4225219","IMMUNODEFICIENCY 46",1141,4,"1.0"]
["C0007193","Cardiomyopathy, Dilated",1138,4,"0.5573060417302593","Abnormality of the cardiovascular system"]
["C0264886","Conduction disorder of the heart",1138,4,"0.3898556667639416","Abnormality of the cardiovascular system"]
["C0340427","Familial dilated cardiomyopathy",1138,4,"0.36060005547372864"]
["C1449563","Cardiomyopathy, Familial Idiopathic",1138,4,"0.0031474371698796706"]
["C0030328","Panniculitis, Nodular Nonsuppurative",1137,4,"0.9099145068384988"]
["C0039841","Thiamine Deficiency",1137,4,"0.7563350547642427","Abnormality of metabolism/homeostasis"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645"]
["C0022578","Keratoconus",1121,4,"0.1752792905172218","Abnormality of the eye"]
["C0028077","Night Blindness",1121,4,"0.06556981725310781","Abnormality of the eye"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577","Abnormality of the eye"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101","Abnormality of the eye"]
["C0339527","Leber Congenital Amaurosis",1120,4,"0.614613666104317"]
["C0375206","Hemiplegia/hemiparesis",1120,4,"0.28613392330803156","Abnormality of the nervous system"]
["C1301509","Severe visual impairment",1120,4,"0.5081365186465451","Abnormality of the eye"]
["C3540662","Congenital Amaurosis of Retinal Origin",1120,4,"0.35544780678837085"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757"]
["C0852654","21-hydroxylase deficiency",1119,4,"0.6383699403167985"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757"]
["C4273964","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1119,4,"0.8788701999033757"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795"]
["C3711390","9q22.3 Microdeletion",1114,4,"0.9795969719383795"]
["C0155285","Orbital cyst",1113,4,"0.318931892986822","Abnormality of head or neck"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892","Abnormality of the nervous system"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892","Abnormality of the skeletal system"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822","Neoplasm"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822","Abnormality of the digestive system"]
["C4540342","JOUBERT SYNDROME 32",1113,4,"0.20405210589652178"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0"]
["C3151202","LEBER CONGENITAL AMAUROSIS 8",1093,4,"1.0"]
["C4072868","Paravenous chorioretinal atrophy",1093,4,"1.0","Abnormality of the eye"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975"]
["C4305155","Isolated autosomal dominant hypomagnesemia Glaudemans type",1083,4,"0.99792108950975"]
["C3149378","IMMUNODEFICIENCY, COMMON VARIABLE, 1",1071,4,"0.3055805201478008"]
["C3277428","Severe viral infections",1071,4,"0.4669578382140786"]
["C3809991","IMMUNODEFICIENCY, COMMON VARIABLE, 10",1071,4,"0.3055805201478008"]
["C4014617","IMMUNODEFICIENCY 24",1071,4,"0.17048051471309186"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879"]
["C4225365","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",1061,4,"0.9551660346730506"]
["C4274081","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1061,4,"0.9551660346730506"]
["C4303593","DEND syndrome",1061,4,"0.9551660346730506"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472","Abnormality of blood and blood-forming tissues"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561"]
["C4025285","Microspherocytosis",1049,4,"0.9101178765476561","Abnormality of blood and blood-forming tissues"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512"]
["C0391957","idiopathic epilepsy",1037,4,"0.11579113947359684"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972"]
["C1842564","Temporal epilepsy, familial",1037,4,"0.7776603817177512"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969"]
["C3277723","JOUBERT SYNDROME 12",1022,4,"0.946143372501969"]
["C3279899","Hydrolethalus Syndrome 2",1022,4,"0.946143372501969"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233"]
["C1866339","Preaxial Hallucal Polydactyly",1020,4,"-0.08921202085428967"]
["C3554247","CARPENTER SYNDROME 2",1020,4,"0.4232457986339482"]
["C4020889","Cornela disease",1020,4,"0.07721152036680853"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319","Abnormality of head or neck"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384"]
["C3266101","22q11 partial monosomy syndrome",1013,4,"0.8701801956520172"]
["C4024912","Occipital myelomeningocele",1013,4,"0.8693693476693937","Abnormality of the nervous system"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774"]
["C0035333","Retinitis",1003,4,"0.7450760583596704"]
["C0154874","Neuroretinitis",1003,4,"0.9052517448587774"]
["C3203733","Precordial Catch Syndrome",1003,4,"0.9052517448587774"]
["C0343239","Benign congenital hypotonia",994,4,"0.4019925104659892"]
["C1655035","congenital muscle disorder",994,4,"0.4019925104659892"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167"]
["C0795878","Monosomy 22",986,4,"0.9157211381818925"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925"]
["C2985524","Rhabdoid Tumor Predisposition Syndrome",986,4,"0.9157211381818925"]
["C3553248","MENTAL RETARDATION, AUTOSOMAL DOMINANT 15",986,4,"0.4769118408704372"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841"]
["C3277090","CHROMOSOME 2q23.1 DELETION SYNDROME",983,4,"0.7779578635877981"]
["C3553247","MENTAL RETARDATION, AUTOSOMAL DOMINANT 14",983,4,"-0.06539317343845784"]
["C4304532","2q23.1 microdeletion syndrome",983,4,"0.710787630067661"]
["C1854023","Spinal muscular atrophy, Jerash type",965,4,"0.3467724488146202"]
["C3280587","AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",965,4,"0.1331586705851838"]
["C3711384","Distal Hereditary Motor Neuropathy, Type II",965,4,"-0.1818813881409131"]
["C3888271","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID",965,4,"0.2966258170086335"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0"]
["C1853578","Neuroferritinopathy",961,4,"1.0"]
["C3810090","L-FERRITIN DEFICIENCY",961,4,"1.0"]
["C4024952","Cavitation of the basal ganglia",961,4,"1.0","Abnormality of the nervous system"]
["C0234517","Anarthria speech disorder",960,4,"0.08043819918468745","Abnormality of the nervous system"]
["C1853396","Primary lateral sclerosis juvenile",960,4,"0.753905345597191"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671","Abnormality of the endocrine system"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671","Abnormality of the skeletal system"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671"]
["C0338902","Writer\\'s cramp neurosis",949,4,"0.8441872370991478"]
["C1851945","DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",949,4,"0.9503061918558788"]
["C1969807","Dystonia, Focal, Task-Specific",949,4,"0.9509677233862748"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596","Abnormality of head or neck"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596","Abnormality of the musculature"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141"]
["C0398762","Properdin deficiency disease",942,4,"1.0"]
["C1839454","PROPERDIN DEFICIENCY, X-LINKED",942,4,"1.0"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029"]
["C4014780","OROFACIODIGITAL SYNDROME XIV",938,4,"0.5251645199190038"]
["C0008313","Cholangitis, Sclerosing",923,4,"0.22838409719731467"]
["C0038013","Ankylosing spondylitis",923,4,"-0.12575006794417226"]
["C0566602","Primary sclerosing cholangitis",923,4,"-0.12001639727158234"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936","Abnormality of the integument"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936","Abnormality of the cardiovascular system"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363"]
["C1844569","Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder",918,4,"0.9575445344660868"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868"]
["C3275558","MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",918,4,"0.9575445344660868"]
["C1300267","Brachydactyly syndrome type B",913,4,"0.9376849361290489"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834"]
["C3151609","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",913,4,"0.9621021108222909"]
["C3151610","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",913,4,"0.9621021108222909"]
["C3714995","CARDIOMYOPATHY, DILATED, 1KK",908,4,"1.0"]
["C3714998","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",908,4,"1.0"]
["C3808963","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",908,4,"1.0"]
["C4479186","NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE",908,4,"1.0"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487","Abnormality of the skeletal system"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487","Abnormality of the musculature"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487","Abnormality of connective tissue"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433","Abnormality of the cardiovascular system"]
["C1302790","Congenital malformation syndrome",892,4,"0.48092873988055274"]
["C2675862","Pyloric Stenosis, Infantile Hypertrophic, 5",892,4,"0.7699820102594364"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364","Abnormality of the genitourinary system"]
["C1563696","DNA Repair-Deficiency Disorders",885,4,"0.9621712857806799"]
["C1563697","Chromosome Instability Syndromes",885,4,"0.9621712857806799"]
["C3150667","MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",885,4,"0.8679791396861877"]
["C4225397","ATAXIA-OCULOMOTOR APRAXIA 4",885,4,"0.9621712857806799"]
["C0270724","Infantile Neuroaxonal Dystrophy",874,4,"0.8493486536305945"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714"]
["C2750220","Karak Syndrome",874,4,"0.9665095510784714"]
["C2751842","PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",874,4,"0.9665095510784714"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523"]
["C3152102","USH1D/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C3275872","USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C0338473","Neuroaxonal Dystrophies",850,4,"0.9763121476503032"]
["C0751716","Adult Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751717","Juvenile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751718","Late Infantile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519"]
["C3150732","LYMPHEDEMA, HEREDITARY, IC",828,4,"0.9689434860194519"]
["C4274084","Pelizaeus Merzbacher like disease",828,4,"0.8988264701320258"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481"]
["C0028817","Ochronosis",815,4,"0.9998949928170674","Abnormality of the integument"]
["C0410607","Intervertebral disk calcification",815,4,"0.9998949928170674","Abnormality of the skeletal system"]
["C2931645","Ochronosis, hereditary",815,4,"0.9998949928170674"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219"]
["C0026916","Mycobacterium avium-intracellulare Infection",809,4,"0.874268558118369"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369"]
["C0152205","Alternating esotropia",778,4,"0.6668195784166747","Abnormality of the eye"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791"]
["C0154141","Thyrotoxicosis with toxic single thyroid nodule",777,4,"0.7790903844121302","Abnormality of the endocrine system"]
["C0154143","Toxic multinodular goiter",777,4,"0.761212308025839","Abnormality of the endocrine system"]
["C0268446","Thyrotoxic periodic paralysis",777,4,"0.7634430126158891"]
["C4021553","Periodic hypokalemic paresis",777,4,"0.16836888503759684","Abnormality of the nervous system"]
["C0340486","Induced ventricular tachycardia",763,4,"0.9689497285955772"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772"]
["C4053736","Catecholaminergic Polymorphic Ventricular Tachycardia Type 1",763,4,"0.8604421250736728"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619"]
["C3279093","LONG QT SYNDROME 2/9, DIGENIC",760,4,"0.7046718288484356"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906"]
["C3277700","LONG QT SYNDROME 1/2, DIGENIC (disorder)",759,4,"0.5600704718799824"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671"]
["C1096660","Ehlers-Danlos syndrome type IX",757,4,"0.9584766650423687"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687"]
["C0023510","Leukocyte Disorders",754,4,"0.8708959682898822"]
["C0242597","Leukocyte-Adhesion Deficiency Syndrome",754,4,"0.8708959682898822"]
["C0272187","Congenital leukocyte adherence deficiency",754,4,"0.5926966934749797"]
["C0398738","Leukocyte adhesion deficiency type 1",754,4,"0.8923126575533546"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","Abnormality of head or neck"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","Abnormality of the eye"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","Abnormality of the cardiovascular system"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","Abnormality of the immune system"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324","Abnormality of the integument"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324","Abnormality of the immune system"]
["C0031046","Pericarditis",737,4,"0.7652398869788269","Abnormality of the cardiovascular system"]
["C0031046","Pericarditis",737,4,"0.7652398869788269","Abnormality of the immune system"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893","Abnormality of the cardiovascular system"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893","Abnormality of the immune system"]
["C1167732","Pleuropericarditis",737,4,"0.948447210824893"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251"]
["C3888088","SMITH-MCCORT DYSPLASIA 1",725,4,"0.9702319108165626"]
["C0006664","Calcinosis cutis",716,4,"0.9950932510684533"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566","Abnormality of blood and blood-forming tissues"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566","Abnormality of the immune system"]
["C0748397","Reynolds syndrome",716,4,"0.9950932510684533"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533"]
["C0151747","Renal tubular disorder",714,4,"0.6564438927056846","Abnormality of the genitourinary system"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443","Abnormality of the genitourinary system"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443","Abnormality of metabolism/homeostasis"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803"]
["C0268709","Renal tubular defect",714,4,"0.6568289259015833"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396","Abnormality of the genitourinary system"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243"]
["C3150674","CHROMOSOME 15q24 DELETION SYNDROME",708,4,"0.8389773239052534"]
["C3150675","CHROMOSOME 15q24 DUPLICATION SYNDROME",708,4,"0.8389773239052534"]
["C4025697","Gastrointestinal atresia",708,4,"0.5941201036686057","Abnormality of the digestive system"]
["C4310804","WITTEVEEN-KOLK SYNDROME",708,4,"0.8389773239052534"]
["C0263580","Ichthyosis hystrix",696,4,"0.8742152361227875"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219","Abnormality of the integument"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414","Abnormality of the integument"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029","Abnormality of the integument"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929","Abnormality of head or neck"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682"]
["C4011726","MYOPATHY, TUBULAR AGGREGATE, 1",681,4,"0.587886115917754"]
["C4015624","MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",681,4,"0.19107546263873001"]
["C0013369","Dysentery",674,4,"0.5565012010686669"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","Abnormality of the digestive system"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862"]
["C1857231","LACTASE PERSISTENCE",674,4,"0.44101976176582613"]
["C0014057","Japanese Encephalitis",670,4,"0.12529101004639417"]
["C0037354","Smallpox",670,4,"0.25178701965340117"]
["C0043395","Yellow Fever",670,4,"0.2715412910380418"]
["C1096184","West Nile viral infection",670,4,"0.14120861033824855"]
["C0155118","Corneal degeneration",668,4,"0.8857334165912198","Abnormality of the eye"]
["C0271288","Corneal guttata",668,4,"0.12529869842568003","Abnormality of the eye"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","Abnormality of the endocrine system"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874","Abnormality of the nervous system"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397","Abnormality of metabolism/homeostasis"]
["C0542037","Hypotriglyceridemia",660,4,"0.49505692326805123","Abnormality of metabolism/homeostasis"]
["C3149462","HYPERALPHALIPOPROTEINEMIA 1",660,4,"-0.10585370600871524"]
["C3151467","Apolipoprotein C-III Deficiency",660,4,"0.22375473325642664"]
["C0406810","Carney Complex",656,4,"0.966104924710435"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422"]
["C1864846","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)",656,4,"0.9882890821196422"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766"]
["C0030591","Paroxysmal ventricular tachycardia",646,4,"0.6412214985130897","Abnormality of the cardiovascular system"]
["C1832600","Naxos disease",646,4,"0.4094582303008028"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523"]
["C2677105","Inflammatory Bowel Disease 12",646,4,"-0.02988571523685779"]
["C0025306","Meningococcemia",643,4,"0.2591458046500854"]
["C0877430","Asthma chronic",643,4,"0.704724009687437"]
["C1096458","Vascular occlusion",643,4,"0.704724009687437"]
["C2750067","Plasminogen Activator Inhibitor-1 Deficiency",643,4,"0.704724009687437"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064"]
["C0272322","Severe hereditary factor VIII deficiency disease",640,4,"0.8052338115339882"]
["C0272324","Mild hereditary factor VIII deficiency disease",640,4,"0.8046019085659679"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527","Abnormality of the eye"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527","Abnormality of the integument"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527","Abnormality of the cardiovascular system"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","Abnormality of the eye"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239"]
["C3887709","Optic Neuropathy",637,4,"0.3628349824329477","Abnormality of the eye"]
["C0014173","Endometrial Hyperplasia",631,4,"0.9747354035273748"]
["C0349578","Complex Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0349579","Atypical Endometrial Hyperplasia",631,4,"0.9911635507461023"]
["C0456483","Simple Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607","Abnormality of the musculature"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607","Abnormality of limbs"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764"]
["C3150988","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",593,4,"-0.1953277045552747"]
["C3554316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15",593,4,"0.20570769240111966"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031"]
["C3553830","AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",585,4,"0.1924090306536971"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824","Abnormality of head or neck"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824","Abnormality of the skeletal system"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824","Abnormality of connective tissue"]
["C1855432","Mandibulofacial Dysostosis with Mental Deficiency",575,4,"1.0"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0"]
["C3495438","Macular Degeneration, Age-Related, 2",575,4,"1.0"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441"]
["C0242225","Color blindness",566,4,"0.9950754269291268"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441"]
["C0019625","Sinus histiocytosis",564,4,"1.0"]
["C0235592","Cervical lymphadenopathy",564,4,"1.0"]
["C0432262","Dysosteosclerosis",564,4,"1.0"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0"]
["C0432347","Uncombable hair syndrome",548,4,"0.8035445441555604"]
["C4020850","Generalized trichodysplasia",548,4,"0.8792453047085022"]
["C4025700","Trichodysplasia",548,4,"0.8792453047085022","Abnormality of the integument"]
["C4310649","UNCOMBABLE HAIR SYNDROME 2",548,4,"0.6533279180232886"]
["C3150733","LONG QT SYNDROME 13",547,4,"1.0"]
["C3150933","HYPERALDOSTERONISM, FAMILIAL, TYPE III",547,4,"1.0"]
["C4020742","Familial primary hyperaldosteronism type 2",547,4,"1.0"]
["C4023208","Glucocortocoid-insensitive primary hyperaldosteronism",547,4,"1.0","Abnormality of the endocrine system"]
["C0040412","Fissured tongue",541,4,"0.38932353203088294","Abnormality of head or neck"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794"]
["C3272802","Hamartomatous polyposis",541,4,"0.49314407207659977"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314","Abnormality of head or neck"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314","Abnormality of the eye"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314","Neoplasm"]
["C1708353","Hereditary Paraganglioma-Pheochromocytoma Syndrome",540,4,"0.10474032977052136"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165"]
["C1858592","Carney Triad",540,4,"0.24373366452987683"]
["C4025693","Hypertension associated with pheochromocytoma",540,4,"0.535271664386681","Abnormality of the cardiovascular system"]
["C3150412","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3",513,4,"0.6020080495063018"]
["C3150417","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",513,4,"0.8973661853444033"]
["C3151519","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",513,4,"0.8472780013808121"]
["C4310704","RETINITIS PIGMENTOSA 76",513,4,"0.8973661853444033"]
["C0268354","De Barsy syndrome",498,4,"1.0"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0"]
["C4225268","CUTIS LAXA, AUTOSOMAL DOMINANT 3",498,4,"1.0"]
["C4225272","SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",498,4,"1.0"]
["C0002949","Aneurysm, Dissecting",495,4,"0.4190083652153722","Abnormality of the cardiovascular system"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011"]
["C2697933","Loeys-Dietz Syndrome Type 1",495,4,"0.3284215457493587"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848","Abnormality of the respiratory system"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514","Abnormality of the cardiovascular system"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684"]
["C4022878","Descending aortic dissection",494,4,"0.4382772547496848","Abnormality of the cardiovascular system"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954"]
["C0029118","Opportunistic Infections",487,4,"0.44372825067254085"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885"]
["C0270246","Meconium plug syndrome",484,4,"0.8684151328108605"]
["C0398349","Distal intestinal obstruction syndrome",484,4,"-0.05192123239712883","Abnormality of the digestive system"]
["C2939175","Meconium ileus",484,4,"0.8993817382526215","Abnormality of the digestive system"]
["C3553270","DIARRHEA 6",484,4,"0.8684151328108605"]
["C0267937","Acute recurrent pancreatitis",481,4,"0.6551856257743953"]
["C0341471","Idiopathic chronic pancreatitis",481,4,"0.6557646647913911"]
["C0747198","pancreatitis idiopathic",481,4,"0.24422481763496753"]
["C2609129","Autoimmune pancreatitis",481,4,"0.4201820765467514"]
["C0341862","Hypothalamic amenorrhea",479,4,"1.0"]
["C3554224","LEPTIN DEFICIENCY OR DYSFUNCTION",479,4,"1.0"]
["C3824872","Obesity in animals",479,4,"1.0"]
["C3838754","Congenital leptin deficiency",479,4,"1.0"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0"]
["C1859069","Brittle Bone Disorder",461,4,"1.0"]
["C4303786","Ehlers-Danlos syndrome vascular-like type",461,4,"1.0"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784"]
["C3840085","Disorder of Achilles tendon",457,4,"0.39971956502070516"]
["C4225429","Ehlers-Danlos syndrome classic type",457,4,"0.42484294501622777"]
["C1837187","MACULAR DEGENERATION, AGE-RELATED, 3",453,4,"0.9332428068483192"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192"]
["C4225406","NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION",453,4,"0.9332428068483192"]
["C0014836","Escherichia coli Infections",436,4,"0.42148715921281665","Abnormality of the immune system"]
["C1096063","Drug Resistant Epilepsy",436,4,"0.5351995344085753"]
["C1861502","COLCHICINE RESISTANCE",436,4,"0.7518401423529796"]
["C2677101","Inflammatory Bowel Disease 13",436,4,"0.7518401423529796"]
["C0019114","Hemosiderosis",428,4,"0.886579780043549"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283"]
["C3469186","HEMOCHROMATOSIS, TYPE 1",428,4,"0.5059919153578046"]
["C0029421","Osteochondritis Dissecans",425,4,"0.6118752508401556","Abnormality of the skeletal system"]
["C0038012","Spondylitis",425,4,"0.8730318364465777"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777"]
["C3665488","Familial Osteochondritis Dissecans",425,4,"0.8730318364465777"]
["C0750145","Occlusive vascular disease",416,4,"0.9870622703220427"]
["C1306889","Peripheral arterial occlusive disease",416,4,"0.9956471897164249"]
["C4025272","Peripheral arterial stenosis",416,4,"0.9956471897164249"]
["C4531019","Arterial disease of legs",416,4,"0.9956471897164249"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915"]
["C3278482","DESBUQUOIS DYSPLASIA, KIM VARIANT",411,4,"0.5918089323106626"]
["C4012146","DESBUQUOIS DYSPLASIA 1",411,4,"0.5918089323106626"]
["C4014294","DESBUQUOIS DYSPLASIA 2",411,4,"-0.29884429387514977"]
["C0021100","Bullous impetigo",398,4,"0.6195026896156528"]
["C1838099","ABCD syndrome",398,4,"0.6195026896156528"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962"]
["C3266898","Waardenburg Syndrome",398,4,"-0.15530663933950462"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089"]
["C3809781","Cole disease",391,4,"0.8578268889014156"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798"]
["C4225369","MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",353,4,"0.9667328529971798"]
["C4225413","MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",353,4,"0.9667328529971798"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566"]
["C3665333","Keratitis-Ichthyosis-Deafness Syndrome",349,4,"0.7237192186662726"]
["C4011788","Behavioral variant of frontotemporal dementia",347,4,"0.7960292379557252"]
["C4021584","Frontotemporal cerebral atrophy",347,4,"0.7000467182622997","Abnormality of the nervous system"]
["C4024936","Temporal cortical atrophy",347,4,"0.7287840688620689","Abnormality of the nervous system"]
["C4024956","Grammar-specific speech disorder",347,4,"0.7900381285986946","Abnormality of the nervous system"]
["C0270920","Supranuclear paralysis",346,4,"0.7816267884283268"]
["C0338460","Argyrophilic grain disease",346,4,"0.5149372574107562"]
["C0393570","Corticobasal degeneration",346,4,"0.7499873031211506"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268"]
["C0477548","Other chondrocalcinosis",337,4,"0.6929768292601719"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736"]
["C2931105","Hypercalciuria, childhood idiopathic",337,4,"0.2494154124977662"]
["C0038833","Superior Vena Cava Syndrome",333,4,"1.0"]
["C0038834","Superior Vena Cava Thrombosis",333,4,"1.0"]
["C0267941","Pancreatitis, Acute Necrotizing",333,4,"1.0"]
["C3150644","BRACHYDACTYLY, TYPE E2",333,4,"1.0"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679","Abnormality of the nervous system"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688","Abnormality of the nervous system"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489","Abnormality of the nervous system"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584"]
["C0205858","General Paralysis",316,4,"0.4336675050527473"]
["C3280415","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",316,4,"0.7149075838121606"]
["C3281191","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13",316,4,"0.6351962755291004"]
["C4310728","SEIZURES, BENIGN FAMILIAL INFANTILE, 5",316,4,"0.7149075838121606"]
["C0014804","Erythromelalgia",295,4,"0.9798909948940998"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998"]
["C3178789","Widespread Chronic Pain",295,4,"0.9681508168503132"]
["C3276706","Small Fiber Neuropathy",295,4,"0.953713000278888"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013"]
["C0268800","Simple renal cyst",287,4,"0.27754182989834264","Abnormality of the genitourinary system"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922"]
["C0010709","Cyst",286,4,"0.314153182593162"]
["C0334054","cystic disease",286,4,"0.43401777605374775"]
["C1868148","Potter Type III Polycystic Kidney Disease",286,4,"0.7202711540267214"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875"]
["C3151568","NEPHROTIC SYNDROME, TYPE 4",278,4,"0.9969524000045875"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457"]
["C3150099","ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS",269,4,"0.2511528835159662"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857"]
["C4479387","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",262,4,"0.6186581197395332"]
["C4479409","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",262,4,"0.6186581197395332"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789"]
["C4303475","Hyperinsulinism due to HNF1A deficiency",261,4,"0.997160994457789"]
["C0586358","Biliary Intraepithelial Neoplasia",259,4,"0.859722580419669"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176"]
["C3809005","CARDIOFACIOCUTANEOUS SYNDROME 2",259,4,"0.7421456764536136"]
["C0268124","Adenosine deaminase deficiency",243,4,"0.9961400504485656"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779"]
["C1863236","SCID Due to ADA Deficiency, Early-Onset",243,4,"0.9948941602845729"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929"]
["C0085702","Monocytosis",211,4,"0.12792032357732802","Abnormality of blood and blood-forming tissues"]
["C0085702","Monocytosis",211,4,"0.12792032357732802","Abnormality of the immune system"]
["C0272183","Qualitative abnormality of granulocyte",211,4,"0.7687172741289907"]
["C2675526","Neutropenia, Severe Congenital, Autosomal Recessive 4",211,4,"0.7926872639946244"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135"]
["C0221023","Cyclic neutropenia",210,4,"0.8717659801155617"]
["C1859966","Neutropenia, Severe Congenital, Autosomal Dominant 1",210,4,"0.4452213445746989"]
["C3671688","Cyclic Hematopoesis",210,4,"0.8786183589438135"]
["C3151513","MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)",208,4,"0.7887256405736275"]
["C3711385","Deoxyguanosine Kinase Deficiency",208,4,"0.202928994485112"]
["C4310733","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",208,4,"0.8277342624068593"]
["C4310735","PORTAL HYPERTENSION, NONCIRRHOTIC",208,4,"0.8277342624068593"]
["C0024291","Lymphohistiocytosis, Hemophagocytic",198,4,"0.35312140083346233"]
["C0398794","Hypopigmentation-immunodeficiency disease",198,4,"0.3739540744581038"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701"]
["C3887558","Hemophagocytic Syndrome",198,4,"0.6268040040887832"]
["C0451720","Nephrotic syndrome, focal and segmental glomerular lesions",194,4,"1.0"]
["C2902887","Nephrotic syndrome with focal and segmental hyalinosis",194,4,"1.0"]
["C2902888","Nephrotic syndrome with focal and segmental sclerosis",194,4,"1.0"]
["C2902889","Nephrotic syndrome with focal glomerulonephritis",194,4,"1.0"]
["C0085278","Antiphospholipid Syndrome",189,4,"0.6552586323302864"]
["C1395512","Placental dysfunction",189,4,"0.856543739091351"]
["C1836302","Carotid Intimal Medial Thickness 1",189,4,"0.856543739091351"]
["C3875007","Nodular thyroid disease",189,4,"0.856543739091351"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937","Abnormality of the skeletal system"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937","Abnormality of limbs"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937"]
["C1850155","TORG-WINCHESTER SYNDROME",185,4,"0.8904162511903769"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937","Abnormality of the skeletal system"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937","Abnormality of limbs"]
["C0011644","Scleroderma",182,4,"0.6767100101356879","Abnormality of the integument"]
["C0036420","Localized scleroderma",182,4,"0.8924031484606498"]
["C0263409","Linear Scleroderma",182,4,"0.8908365329532832"]
["C1527383","Morphea",182,4,"0.8908365329532832","Abnormality of the integument"]
["C0152458","Leukocoria",172,4,"0.598085851562855","Abnormality of the eye"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544"]
["C3151302","Chromosome 13q14 deletion syndrome",172,4,"0.06853308659889465"]
["C3151445","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",172,4,"0.30082344945229544"]
["C1260386","Glucocorticoid-remediable aldosteronism",158,4,"0.8397479817803102"]
["C4020743","Glucocorticoid-remediable familial primary aldosteronism",158,4,"0.9695593994273085"]
["C4020744","Familial primary hyperaldosteronism type 1",158,4,"0.9695593994273085"]
["C4023209","Dexamethasone-suppresible primary hyperaldosteronism",158,4,"0.9695593994273085"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091","Abnormality of blood and blood-forming tissues"]
["C0477317","Other primary thrombocytopenia",151,4,"0.5454733586788403"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332","Abnormality of the nervous system"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777"]
["C0497299","meningitis/encephalitis",132,4,"0.8961309741885334"]
["C0948264","Neuroborreliosis",132,4,"0.8961309741885332"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061","Abnormality of the respiratory system"]
["C0852283","Respiratory Distress Syndrome",118,4,"0.65512356634232","Abnormality of the respiratory system"]
["C0001306","Acute alcoholic liver disease",116,4,"0.7883071854459298"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316"]
["C1290344","Nonspecific interstitial pneumonia",116,4,"-0.003977874222303178"]
["C3874381","Childhood nephrotic syndrome",116,4,"0.7930542201453316"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0"]
["C1834372","Narcolepsy 1",108,4,"1.0"]
["C4025713","Paroxysmal drowsiness",108,4,"1.0","Abnormality of the nervous system"]
["C4543926","Narcolepsy type 1",108,4,"1.0"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688","Abnormality of the skeletal system"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852"]
["C3278138","FIBROCHONDROGENESIS 1",91,4,"0.9566780682623128"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531","Abnormality of the musculature"]
["C0949496","Luft Disease",79,4,"0.8236839081654147"]
["C0011636","Dermatophytosis",78,4,"0.9010049904006909"]
["C0040247","Tinea",78,4,"0.9010049904006909"]
["C1262313","Invasive Fungal Infections",78,4,"0.7059847213506212"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989"]
["C0085663","Plasmacytosis",71,4,"0.5640227428535829"]
["C0854706","Neonatal infection",71,4,"0.7879726612329239"]
["C1304456","Congo hemorrhagic fever",71,4,"0.7879726612329239"]
["C0085655","Polymyositis",59,4,"0.8582276889857904"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199"]
["C0022806","Kwashiorkor",54,4,"0.8410997792706195"]
["C0151482","Megaloblastic anemia due to folate deficiency",54,4,"0.8410997792706195"]
["C0744483","growth hormone treatment",54,4,"0.4903928473083416"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637"]
["C0271561","Somatotropin deficiency",52,4,"0.6066731568781064"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556"]
["C2919861","Medullary cystic kidney disease type 1",51,4,"-0.03064740386634348"]
["C4025730","Renal cortical atrophy",51,4,"0.8209579156411062","Abnormality of the genitourinary system"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948"]
["C1857813","Macular Degeneration, Age-Related, 7",44,4,"0.9996445193767856"]
["C4225211","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",44,4,"0.9996445193767856"]
["C4293701","Status cribrosum",44,4,"0.9996445193767856"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0149649","Cholesterol Embolism",23,4,"0.9999999999999991"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776"]
["C3281128","FIBROCHONDROGENESIS 2",11,4,"0.9986611192663502"]
["C0038557","Submandibular Gland Diseases",7,4,"1.0"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0","Abnormality of the genitourinary system"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0","Abnormality of metabolism/homeostasis"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0"]
["C4225296","MENTAL RETARDATION, AUTOSOMAL DOMINANT 39",2188,3,"1.0"]
["C4225432","CHROMOSOME 2p25.3 DUPLICATION SYNDROME",2188,3,"1.0"]
["C4225433","CHROMOSOME 2p25.3 DELETION SYNDROME",2188,3,"1.0"]
["C0085417","Epilepsy, Complex Partial",2187,3,"1.0"]
["C0751640","Cryptogenic Partial Complex Epilepsy",2187,3,"1.0"]
["C0751641","Epilepsy, Symptomatic, Partial Complex",2187,3,"1.0"]
["C0749398","Recurrent thromboembolic disease",2170,3,"1.0"]
["C2751090","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency",2170,3,"1.0"]
["C2751091","Thrombophilia Due To Elevated Histidine-Rich Glycoprotein",2170,3,"1.0"]
["C0795942","Fitzsimmons-Guilbert syndrome",2164,3,"1.0"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0"]
["C4310784","MENTAL RETARDATION, AUTOSOMAL DOMINANT 41",2164,3,"1.0"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0"]
["C1852750","Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation",2160,3,"1.0"]
["C3805432","COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",2160,3,"1.0"]
["C0038041","Spotted Fever Group Rickettsiosis",2152,3,"1.0"]
["C0041471","TYPHUS",2152,3,"1.0"]
["C0343758","Typhus group rickettsial disease",2152,3,"1.0"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618"]
["C4011926","WHITE SPONGE NEVUS 1",2146,3,"0.4374897000674704"]
["C4014321","WHITE SPONGE NEVUS 2",2146,3,"0.24201997154868293"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356"]
["C4225266","IMMUNODEFICIENCY 42",2132,3,"0.34023871987494253"]
["C0342765","D-Glyceric aciduria",2127,3,"1.0"]
["C1291386","D-glycericacidemia",2127,3,"1.0"]
["C3887877","Deficiency of glycerate kinase",2127,3,"1.0"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656"]
["C0483368","Human anaplasmosis due to Anaplasma phagocytophilum",2115,3,"0.23389454682244462"]
["C3151068","RETINITIS PIGMENTOSA 44",2115,3,"0.05352557818713353"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0"]
["C3495589","Jalili syndrome",2113,3,"1.0"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143"]
["C4479534","TOWNES-BROCKS SYNDROME 2",2096,3,"0.20090481602953247"]
["C1847973","Persistent Polyclonal B-Cell Lymphocytosis",2095,3,"0.9979012783369534"]
["C3554686","IMMUNODEFICIENCY 11",2095,3,"0.9989503257576544"]
["C4539957","IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS",2095,3,"0.9989503257576544"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845"]
["C0035585","Rickettsia Infections",2091,3,"1.0"]
["C0162699","Tick-Borne Infections",2091,3,"1.0"]
["C0162700","Tick-Borne Diseases",2091,3,"1.0"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469"]
["C0268632","Homocarnosinosis",2089,3,"1.0"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0"]
["C3495555","Carnosinemia",2089,3,"1.0"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021"]
["C1997910","Citrin deficiency",2085,3,"0.9983849875296601"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0"]
["C0242770","Bronchiolitis Obliterans Organizing Pneumonia",2081,3,"1.0","Abnormality of the respiratory system"]
["C3809768","IMMUNODEFICIENCY 13",2081,3,"1.0"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554","Abnormality of the genitourinary system"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554","Abnormality of metabolism/homeostasis"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624"]
["C3150891","COCOON SYNDROME",2069,3,"0.7041825049843902"]
["C0341698","Atrophy of kidney",2063,3,"0.9800181943609076","Abnormality of the genitourinary system"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0"]
["C2746067","Spinocerebellar ataxia 22",2061,3,"1.0"]
["C4225340","BRUGADA SYNDROME 9",2061,3,"1.0"]
["C0748903","spinal cord involvement",2059,3,"0.5687426290587779"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036"]
["C3809008","HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY",2059,3,"0.13177922814717405"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953"]
["C3538999","DYSTONIA 23",2057,3,"0.5685229120141311"]
["C0339383","Choroidal and/or chorioretinal disorder",2051,3,"1.0"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499"]
["C0263874","Degeneration of lumbar intervertebral disc",2042,3,"0.48952620884826686"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0"]
["C4024950","Nonprogressive encephalopathy",2039,3,"1.0","Abnormality of the nervous system"]
["C4540014","VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",2039,3,"1.0"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193"]
["C4225419","RITSCHER-SCHINZEL SYNDROME 2",2028,3,"0.2945519152029828"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818"]
["C0341007","Alveolar ridge abnormality",2027,3,"0.9714367058705354","Abnormality of head or neck"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983"]
["C0040947","Trichostrongyloidiasis",2025,3,"1.0"]
["C3150923","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",2025,3,"1.0"]
["C4013764","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES",2025,3,"1.0"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0"]
["C3150127","BARDET-BIEDL SYNDROME 15",2024,3,"1.0"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399","Abnormality of metabolism/homeostasis"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156"]
["C3151404","AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",2023,3,"0.6895241324332145"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574"]
["C3280296","Microcephaly-capillary malformation syndrome",2020,3,"0.2606335725477711"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029"]
["C2921112","Septate uterus, complete or partial",2014,3,"0.9995763003557029"]
["C0271836","X-linked reduction of thyroxine-binding globulin",2010,3,"1.0"]
["C1839141","Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C3711378","Inherited Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0"]
["C1854058","SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",1988,3,"1.0"]
["C1866777","Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",1988,3,"1.0"]
["C0393555","Pure hereditary spastic paraplegia",1987,3,"1.0"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353"]
["C4274079","Bile acid CoA ligase deficiency and defective amidation",1986,3,"0.22106619772570074"]
["C1867315","Retinal Nonattachment And Falciform Detachment",1980,3,"0.7175213063989154"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154"]
["C3151617","ANTERIOR SEGMENT DYSGENESIS 7",1980,3,"0.39625116947742944"]
["C0030508","Parasomnia",1962,3,"1.0"]
["C1868570","CHAR SYNDROME",1962,3,"1.0"]
["C4284595","PATENT DUCTUS ARTERIOSUS 2",1962,3,"1.0"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676"]
["C3150191","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities",1948,3,"0.9200101486139004"]
["C4317224","Congenital disorder of glycosylation type 1q",1948,3,"0.7586903336298874"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817"]
["C4025196","Recurrent systemic pyogenic infections",1942,3,"0.999416310286182","Abnormality of the immune system"]
["C4304022","Attenuated ChÃ©diak-Higashi syndrome",1942,3,"0.999416310286182"]
["C1843791","CARDIOMYOPATHY, DILATED, 1N",1941,3,"1.0"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0"]
["C4225408","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",1941,3,"1.0"]
["C1838299","Peroxisome Biogenesis Disorder, Complementation Group 14",1936,3,"1.0"]
["C1838300","Peroxisome Biogenesis Disorder, Complementation Group J",1936,3,"1.0"]
["C3554002","PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)",1936,3,"1.0"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0"]
["C0268221","Fucosidosis Type I",1935,3,"1.0"]
["C0268222","Fucosidosis Type II",1935,3,"1.0"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991"]
["C1837549","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",1933,3,"0.9213910597659157"]
["C1853296","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3",1933,3,"0.8823924145580664"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0","Abnormality of metabolism/homeostasis"]
["C0740749","Chronic metabolic acidosis",1928,3,"1.0","Abnormality of metabolism/homeostasis"]
["C1856399","Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",1928,3,"1.0"]
["C1841989","Glomerulonephritis sparse hair telangiectases",1927,3,"1.0"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0"]
["C4317151","Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",1927,3,"1.0"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841"]
["C1879362","Hypertyrosinemia",1922,3,"0.8588806966598388","Abnormality of metabolism/homeostasis"]
["C1864356","ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",1913,3,"0.9943563839217691"]
["C4014690","EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",1913,3,"0.9971774483802369"]
["C4225399","SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES",1913,3,"0.9971774483802369"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948"]
["C4015542","NEPHRONOPHTHISIS 19",1909,3,"0.9924594449072948"]
["C4479344","SCLEROSING CHOLANGITIS, NEONATAL",1909,3,"0.9849411022011099"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688","Abnormality of the nervous system"]
["C0235946","Cerebral atrophy",1900,3,"0.6108245095183256","Abnormality of the nervous system"]
["C4020860","Supratentorial atrophy",1900,3,"0.7572480642891091"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0"]
["C3280977","SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",1897,3,"1.0"]
["C4274988","Spinocerebellar ataxia type 28",1897,3,"1.0"]
["C1858477","Epilepsy, Partial, with Variable Foci",1895,3,"0.348071332974478"]
["C4310708","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",1895,3,"0.19514242380157906"]
["C4310709","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",1895,3,"0.19514242380157906"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048"]
["C3148823","WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",1893,3,"0.9960886677518175"]
["C3148824","WH/HT",1893,3,"0.9960886677518175"]
["C1848435","WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",1892,3,"0.5827144378236757"]
["C1854310","Hypotrichosis simplex",1892,3,"0.1837819997464611"]
["C3279470","HYPOTRICHOSIS 8",1892,3,"0.6960132188769539"]
["C1366911","Cerebral Cavernous Malformations 1",1890,3,"0.9989230515253277"]
["C1861785","Cavernous Malformations of CNS and Retina",1890,3,"0.9994625329171823"]
["C1861786","Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations",1890,3,"0.9994625329171823"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634"]
["C0001338","Herpetic Acute Necrotizing Encephalitis",1881,3,"0.8495956933717724"]
["C0019385","Herpetic meningoencephalitis",1881,3,"0.9281142004175484"]
["C0276226","Herpes encephalitis",1881,3,"0.9106485268209112","Abnormality of the immune system"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","Abnormality of the nervous system"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","Abnormality of the respiratory system"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534"]
["C4225349","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA",1879,3,"0.7123240917271534"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334"]
["C0543697","Mixed cryoglobulinemia",1868,3,"0.42793889561978304"]
["C3542922","IMMUNODEFICIENCY, COMMON VARIABLE, 7",1868,3,"0.012789108690259137"]
["C3554540","LYMPHOPROLIFERATIVE SYNDROME 2",1868,3,"0.2270189344199347"]
["C0020800","Idiopathic Hypercatabolic Hypoproteinemia",1866,3,"0.9532340651889991"]
["C0033680","Protein-Losing Enteropathies",1866,3,"0.8918414272593603","Abnormality of the digestive system"]
["C4538570","COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",1866,3,"0.9532340651889991"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291"]
["C4225382","COLE-CARPENTER SYNDROME 2",1859,3,"0.31820989922858894"]
["C4317154","COLE-CARPENTER SYNDROME 1",1859,3,"0.2690631429428057"]
["C0152136","Low Tension Glaucoma",1857,3,"0.6895494718443996"]
["C0393729","Immersion Related Epilepsy",1857,3,"0.8588056389000274"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541"]
["C3280479","PITT-HOPKINS-LIKE SYNDROME 2",1856,3,"1.0"]
["C3280524","SCHIZOPHRENIA 17",1856,3,"1.0"]
["C3808494","CHROMOSOME 2p16.3 DELETION SYNDROME",1856,3,"1.0"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393"]
["C3806565","XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",1853,3,"0.9701802351769376"]
["C3808988","FANCONI ANEMIA, COMPLEMENTATION GROUP Q",1853,3,"0.9701802351769376"]
["C3809811","PARKINSON DISEASE 19A, JUVENILE-ONSET",1848,3,"0.7779017889053547"]
["C4310802","PARKINSON DISEASE 19B, EARLY-ONSET",1848,3,"0.7779017889053547"]
["C4510873","Atypical juvenile parkinsonism",1848,3,"0.0"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503"]
["C1851920","Dopa-Responsive Dystonia",1838,3,"0.7381031668122107"]
["C2673535","DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",1838,3,"0.37246962795044164"]
["C0042345","Varicosity",1837,3,"0.15021081890586396","Abnormality of the cardiovascular system"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988"]
["C3810170","DEAFNESS, AUTOSOMAL DOMINANT 56",1837,3,"0.03571767562373238"]
["C0005395","Bile Duct Diseases",1826,3,"0.7410174652844066"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478"]
["C0023092","Lassa Fever",1825,3,"1.0"]
["C3151184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",1825,3,"1.0"]
["C4225291","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",1825,3,"1.0"]
["C1858386","Leber Congenital Amaurosis 4",1821,3,"1.0"]
["C2751763","Retinitis Pigmentosa, Juvenile, Aipl1-Related",1821,3,"1.0"]
["C2751764","CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)",1821,3,"1.0"]
["C0030569","Secondary Parkinson Disease",1815,3,"1.0"]
["C0751414","Parkinson Disease, Secondary Vascular",1815,3,"1.0"]
["C0751415","Atherosclerotic Parkinsonism",1815,3,"1.0"]
["C0019050","Hemoglobinuria, Paroxysmal",1806,3,"0.8575029885859068"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564","Abnormality of the genitourinary system"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564","Abnormality of metabolism/homeostasis"]
["C0086774","Cold paroxysmal hemoglobinuria",1806,3,"0.8560542491747499"]
["C0158962","Hemolytic disease of fetus OR newborn due to RhD isoimmunization",1804,3,"0.8028804708317344"]
["C1263988","Hemolytic disorder",1804,3,"0.4778547659029687"]
["C3698348","Anti-D isoimmunization affecting pregnancy",1804,3,"0.7861702116869942"]
["C0272052","Rh Deficiency Syndrome",1803,3,"0.7511318301054977"]
["C1849387","Rh-Null, Regulator Type",1803,3,"0.8359234306347942"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591","Abnormality of the respiratory system"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591","Abnormality of the immune system"]
["C0032300","Lobar Pneumonia",1802,3,"0.9255647625813682"]
["C3714636","Pneumonitis",1802,3,"0.9325632566281837"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326","Abnormality of blood and blood-forming tissues"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326","Abnormality of the immune system"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387"]
["C4225289","EPILEPSY, PROGRESSIVE MYOCLONIC, 9",1801,3,"0.7755009700527273"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0"]
["C3550693","PEROXISOME BIOGENESIS DISORDER 3B",1790,3,"1.0"]
["C3553929","PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)",1790,3,"1.0"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0"]
["C2931894","Mucolipidosis 2",1780,3,"1.0"]
["C1857144","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",1779,3,"0.39096744761216035"]
["C3151441","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",1779,3,"0.2588869415408644"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","Abnormality of the integument"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","Abnormality of the cardiovascular system"]
["C1706559","Cornea verticillata",1775,3,"0.9732926826845234"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344"]
["C0949855","Electron Transport Chain Deficiencies, Mitochondrial",1774,3,"0.9996297667474157"]
["C0949856","Oxidative Phosphorylation Deficiencies",1774,3,"0.9994447643342457"]
["C0949857","Mitochondrial Respiratory Chain Deficiencies",1774,3,"0.9994447643342457"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0"]
["C3552236","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",1750,3,"1.0"]
["C4024960","Unilateral polymicrogyria",1750,3,"1.0","Abnormality of the nervous system"]
["C0017178","Gastrointestinal Diseases",1742,3,"0.9969676479693609","Abnormality of the digestive system"]
["C0559031","Functional Gastrointestinal Disorders",1742,3,"0.9984558439313651"]
["C1565321","Cholera Infantum",1742,3,"0.998489064790591"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748","Abnormality of head or neck"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748","Abnormality of the integument"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748"]
["C4072877","Scalp folds",1739,3,"0.9999999999999748"]
["C0003175","Anthrax disease",1736,3,"0.6264321207454795"]
["C0017567","Gingival Hypertrophy",1736,3,"0.35725477632624814","Abnormality of head or neck"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959"]
["C1832841","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",1730,3,"0.5501669211630772"]
["C1842852","EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2",1730,3,"0.205518699249844"]
["C3809374","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5",1730,3,"0.22496788737224574"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674"]
["C3809288","LEFT VENTRICULAR NONCOMPACTION 8",1726,3,"0.5689775839107454"]
["C3809289","CARDIOMYOPATHY, DILATED, 1LL",1726,3,"0.5689775839107454"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0"]
["C1336820","Treatment-Induced Anemia",1723,3,"1.0"]
["C4225256","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",1723,3,"1.0"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056"]
["C4012790","Ataxia-Telangiectasisa-Like Disorder 1",1712,3,"0.6228357668453862"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357","Abnormality of metabolism/homeostasis"]
["C1291266","Deficiency of aldehyde oxidase",1707,3,"0.9804894260217336","Abnormality of metabolism/homeostasis"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978"]
["C3896960","Childhood Pre-B Acute Lymphoblastic Leukemia",1705,3,"-0.027256490904037218"]
["C1854776","Infantile cardiomyopathy",1703,3,"0.979530290173549"]
["C3279793","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8",1703,3,"0.958339283945338"]
["C4014588","LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",1703,3,"0.979530290173549"]
["C0033046","Premenstrual syndrome",1702,3,"0.966480153099697"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739"]
["C4275181","Autosomal recessive limb girdle muscular dystrophy type 2A",1701,3,"0.9992510185641242"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739"]
["C1857079","Atretic auditory canal",1696,3,"0.024189804135687224"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577"]
["C0027743","Nerve compression syndrome",1688,3,"0.8472684661866572"]
["C1510429","Entrapment Neuropathies",1688,3,"0.8472684661866572","Abnormality of the nervous system"]
["C4225250","SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",1688,3,"0.6890086092574034"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146"]
["C4015557","AMELOGENESIS IMPERFECTA, TYPE IH",1686,3,"0.09544266829805154"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0"]
["C4024919","Spinocerebellar tract disease in lower limbs",1672,3,"1.0","Abnormality of the nervous system"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635"]
["C3554689","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",1661,3,"0.9997837179499807"]
["C4014934","IMMUNODEFICIENCY 36",1661,3,"0.9997837179499807"]
["C0026618","Dental Fluorosis, Acquired",1660,3,"0.5243431378048634"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511"]
["C3280660","ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",1660,3,"0.7324175848311858"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0"]
["C3553947","PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)",1659,3,"1.0"]
["C3553948","PEROXISOME BIOGENESIS DISORDER 6B",1659,3,"1.0"]
["C4539714","MECKEL SYNDROME 13",1656,3,"1.0"]
["C4539715","JOUBERT SYNDROME 29",1656,3,"1.0"]
["C4539729","OROFACIODIGITAL SYNDROME XVI",1656,3,"1.0"]
["C0033141","Cardiomyopathies, Primary",1651,3,"0.9490350504622265"]
["C0036529","Myocardial Diseases, Secondary",1651,3,"0.9490478822467757"]
["C0878544","Cardiomyopathies",1651,3,"0.8935952248165085","Abnormality of the cardiovascular system"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623","Abnormality of the skeletal system"]
["C0747078","Generalized osteopenia",1642,3,"0.09313533783521795","Abnormality of the skeletal system"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0"]
["C4225344","TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",1640,3,"1.0"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","Abnormality of metabolism/homeostasis"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197"]
["C0451697","Immunodeficiency following hereditary defective response to Epstein-Barr virus",1625,3,"0.7507871873692012"]
["C1264624","Fatal infectious mononucleosis",1625,3,"0.7507871873692012"]
["C0795842","chromosome 11q duplication syndrome",1615,3,"0.994706033041004"]
["C3150803","NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.9887721518740699"]
["C4016301","NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.994706033041004"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511"]
["C3469521","FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",1605,3,"0.5636886029201941"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041"]
["C0272027","Pyridoxine-responsive sideroblastic anemia",1604,3,"0.7589362110647558","Abnormality of blood and blood-forming tissues"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036"]
["C0029106","Opisthorchiasis",1601,3,"1.0"]
["C0277004","Opisthorchis felineus Infection",1601,3,"1.0"]
["C0277005","Opisthorchis viverrini Infection",1601,3,"1.0"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394"]
["C0342701","Transcobalamin II deficiency",1600,3,"0.12675202265221647"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856"]
["C0002888","Anemia, Megaloblastic",1599,3,"0.3113814700916742","Abnormality of blood and blood-forming tissues"]
["C0016412","Folic Acid Deficiency",1599,3,"0.5937557280258959","Abnormality of metabolism/homeostasis"]
["C3151205","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency",1599,3,"0.7022937679332074"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0"]
["C1837148","MYOPIA 6 (disorder)",1597,3,"0.606976978666884"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343"]
["C2931111","Myopia, susceptibility to",1597,3,"0.606976978666884"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474","Abnormality of the nervous system"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784"]
["C1955741","Glucocorticoid deficiency",1593,3,"0.14891614791697927"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764"]
["C4049714","Familial Glucocorticoid Deficiency Type 2",1593,3,"0.25484786257589775"]
["C1291611","Deficiency of glucose-6-phosphate isomerase",1592,3,"1.0","Abnormality of metabolism/homeostasis"]
["C3150730","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",1592,3,"1.0"]
["C4025184","Spontaneous hemolytic crises",1592,3,"1.0","Abnormality of blood and blood-forming tissues"]
["C0395837","Stenosis of external auditory canal",1591,3,"0.1918902462414706","Abnormality of the ear"]
["C0796117","Pitt-Rogers-Danks Syndrome",1591,3,"0.5489463610066461"]
["C1956097","Wolf-Hirschhorn Syndrome",1591,3,"0.5806709883240742"]
["C0036690","Septicemia",1590,3,"0.9509921932341228","Abnormality of the immune system"]
["C0243026","Sepsis",1590,3,"0.957037617548331"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135"]
["C0271801","Central hypothyroidism",1587,3,"0.656909284363833","Abnormality of the endocrine system"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874","Abnormality of the nervous system"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874","Abnormality of the endocrine system"]
["C4316995","Primary Hypothyroidism",1587,3,"0.5898037728754693"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177","Abnormality of connective tissue"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177","Abnormality of the digestive system"]
["C0477362","Other specified extrapyramidal and movement disorders",1584,3,"0.6653449434725934"]
["C3553288","HYPEREKPLEXIA 3",1584,3,"0.21501948255422285"]
["C3553291","HYPEREKPLEXIA 2",1584,3,"0.3040977728098021"]
["C3554398","SPINAL MUSCULAR ATROPHY, JOKELA TYPE",1581,3,"1.0"]
["C4014648","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2",1581,3,"1.0"]
["C4015513","MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",1581,3,"1.0"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0"]
["C3715164","LEBER CONGENITAL AMAUROSIS 17",1578,3,"1.0"]
["C3150967","KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",1577,3,"0.9039202345277295"]
["C3150968","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6",1577,3,"0.6228390306071097"]
["C3150969","MICROPHTHALMIA, ISOLATED 7",1577,3,"0.9039202345277295"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997","Abnormality of the eye"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997","Abnormality of the immune system"]
["C1853392","Interleukin 2 Receptor, Alpha, Deficiency of",1563,3,"0.9994186046050487"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826","Abnormality of the nervous system"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826","Abnormality of the endocrine system"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559"]
["C0032197","Platelet Storage Pool Deficiency",1549,3,"0.33774002271700443"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896"]
["C1969032","Cataract, Autosomal Dominant, Multiple Types 1",1544,3,"0.9818921622111928"]
["C3808115","CATARACT 12, MULTIPLE TYPES",1544,3,"0.9640131352322965"]
["C4021566","Progressive cataract",1544,3,"0.9818921622111928","Abnormality of the eye"]
["C0858617","Posterior subcapsular cataract",1540,3,"0.052711213386187644","Abnormality of the eye"]
["C1112768","Anterior subcapsular cataract",1540,3,"0.7180967726171851","Abnormality of the eye"]
["C1854311","Cataract, posterior polar, 3",1540,3,"0.7180967726171851"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868","Abnormality of the eye"]
["C1852438","CATARACT, COPPOCK-LIKE",1537,3,"0.5723004159825456"]
["C1861829","Cataract microcornea syndrome",1537,3,"0.3577739220403943"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257"]
["C3553494","CATARACT 38",1532,3,"0.9172248741417512"]
["C4025277","Exercise-induced lactic acidemia",1532,3,"0.9172248741417512","Abnormality of metabolism/homeostasis"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108"]
["C3280799","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB",1525,3,"0.6022810193401438"]
["C0023212","Left-Sided Heart Failure",1524,3,"0.9410950331781256","Abnormality of the cardiovascular system"]
["C0235527","Heart Failure, Right-Sided",1524,3,"0.9671676281065485","Abnormality of the cardiovascular system"]
["C1959583","Myocardial Failure",1524,3,"0.9684803067912073"]
["C3810127","IMMUNODEFICIENCY 18",1522,3,"1.0"]
["C3810128","IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",1522,3,"1.0"]
["C3810129","IMMUNODEFICIENCY 18, SCID VARIANT",1522,3,"1.0"]
["C0016063","Osteitis Fibrosa Disseminata",1510,3,"0.4283835395680186","Abnormality of the skeletal system"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321"]
["C4024867","Perifollicular hyperkeratosis",1509,3,"0.3855165440601735","Abnormality of the integument"]
["C4273658","Graham Little Piccardi Lassueur syndrome",1509,3,"0.12256466013168467"]
["C4540331","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5",1509,3,"0.14363459670153464"]
["C0019357","Keratitis, Herpetic",1504,3,"0.8543140063370543"]
["C0024441","Macular Holes",1504,3,"0.8543140063370543","Abnormality of the eye"]
["C1853959","Birdshot chorioretinopathy",1504,3,"0.7584042522847354"]
["C0019100","Severe Dengue",1496,3,"0.7285070510157791"]
["C0376300","Dengue Shock Syndrome",1496,3,"0.7320328876670107"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988"]
["C0009447","Common Variable Immunodeficiency",1489,3,"0.8050564431092794"]
["C2936664","Acquired Hypogammaglobulinemia",1489,3,"0.9098670297563175"]
["C2936665","Immunoglobulin Deficiency, Late-Onset",1489,3,"0.9018156343602505"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655","Abnormality of blood and blood-forming tissues"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655","Abnormality of the immune system"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","Abnormality of blood and blood-forming tissues"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","Abnormality of the immune system"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392","Abnormality of blood and blood-forming tissues"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392","Abnormality of the immune system"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0"]
["C3809443","MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",1485,3,"1.0"]
["C4310676","MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",1485,3,"1.0"]
["C0008312","Primary biliary cirrhosis",1480,3,"0.720194626981639","Abnormality of the digestive system"]
["C0023892","Biliary cirrhosis",1480,3,"0.825384502803407","Abnormality of the digestive system"]
["C0238065","Biliary Cirrhosis, Secondary",1480,3,"0.7621702456876895"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543","Abnormality of the immune system"]
["C0268307","Conjugated hyperbilirubinemia",1479,3,"0.3211554123848656","Abnormality of metabolism/homeostasis"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677","Abnormality of the integument"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677","Abnormality of the cardiovascular system"]
["C0020433","Hyperbilirubinemia",1478,3,"0.3877236539305781"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883"]
["C3554656","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",1467,3,"1.0"]
["C3808802","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",1467,3,"1.0"]
["C4225346","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3",1467,3,"1.0"]
["C0270715","Degenerative Diseases, Central Nervous System",1465,3,"0.8958738790288657"]
["C0524851","Neurodegenerative Disorders",1465,3,"0.7706493839617259","Abnormality of the nervous system"]
["C0751733","Degenerative Diseases, Spinal Cord",1465,3,"0.8958738790288657"]
["C0242383","Age related macular degeneration",1460,3,"0.3508155435707356","Abnormality of the eye"]
["C1536085","Geographic Atrophy",1460,3,"0.5365313915217961"]
["C2237660","exudative macular degeneration",1460,3,"0.5431116014489481"]
["C2931245","Bone Marrow failure syndromes",1459,3,"0.8681829340857987"]
["C3808553","Bone marrow failure syndrome 1",1459,3,"0.8082675486789305"]
["C3810350","Bone marrow failure syndrome 2",1459,3,"0.8140233132956897"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875"]
["C1442837","Myocardial necrosis",1457,3,"0.5199584299255984","Abnormality of the cardiovascular system"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335","Abnormality of the skeletal system"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335","Abnormality of limbs"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068"]
["C3554518","COWDEN SYNDROME 5",1453,3,"0.9820446258220068"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103","Abnormality of metabolism/homeostasis"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463","Abnormality of the endocrine system"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613","Abnormality of metabolism/homeostasis"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928"]
["C0031029","Periapical Granuloma",1446,3,"0.49219730693611324","Abnormality of head or neck"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399","Abnormality of head or neck"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904","Abnormality of head or neck"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788"]
["C0456103","Sepsis of the newborn",1425,3,"1.0","Abnormality of the immune system"]
["C3553597","3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",1425,3,"1.0"]
["C4040739","3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",1425,3,"1.0"]
["C0085662","Macrocytosis",1415,3,"0.6898979485566357"]
["C0236970","Alcohol-Induced Disorders",1415,3,"0.816496580927726"]
["C0679414","alcohol flush reaction",1415,3,"0.816496580927726"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","Abnormality of the eye"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892","Abnormality of head or neck"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892","Abnormality of the skeletal system"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892","Abnormality of the respiratory system"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892","Abnormality of the immune system"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815","Abnormality of the ear"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815","Abnormality of the immune system"]
["C4280333","Recurrent sinus disease",1409,3,"0.6221372819029892"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951","Abnormality of the respiratory system"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981"]
["C0343084","Capillary Leak Syndrome",1407,3,"0.9496117476479664","Abnormality of the cardiovascular system"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347"]
["C0036323","Schistosomiasis",1401,3,"0.4219447499614753"]
["C1850938","FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",1401,3,"0.44476091201218726"]
["C0012716","Disorder of magnesium metabolism",1389,3,"0.9722803115394203"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118"]
["C3151482","HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",1389,3,"0.9722803115394203"]
["C0003507","Aortic Valve Stenosis",1388,3,"0.48225750069486184","Abnormality of the cardiovascular system"]
["C3542024","AORTIC VALVE DISEASE 2",1388,3,"0.7393921099168455"]
["C4479496","CRANIOSYNOSTOSIS 7",1388,3,"0.7524548660560921"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833"]
["C0010068","Coronary heart disease",1381,3,"0.20571659217144087"]
["C1956346","Coronary Artery Disease",1381,3,"0.5274957649514675","Abnormality of the cardiovascular system"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672","Abnormality of the respiratory system"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672","Abnormality of the immune system"]
["C0585953","Recurrent chest infections",1368,3,"0.998040995440351"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351","Abnormality of the respiratory system"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351","Abnormality of the immune system"]
["C0011847","Diabetes",1364,3,"0.2947049926547248"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","Abnormality of the endocrine system"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","Abnormality of metabolism/homeostasis"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","Abnormality of the endocrine system"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","Abnormality of metabolism/homeostasis"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593"]
["C4310810","MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",1362,3,"0.25231642807326027"]
["C0268528","Hyperprolinemia",1357,3,"0.7784250447678972","Abnormality of metabolism/homeostasis"]
["C0268529","Proline dehydrogenase deficiency",1357,3,"0.8890025575602069"]
["C1833247","SCHIZOPHRENIA 4 (disorder)",1357,3,"0.8890025575602069"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","Abnormality of blood and blood-forming tissues"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","Abnormality of metabolism/homeostasis"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196","Abnormality of the immune system"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","Abnormality of blood and blood-forming tissues"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","Abnormality of metabolism/homeostasis"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","Abnormality of the immune system"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678"]
["C0003850","Arteriosclerosis",1322,3,"0.1460645896653591","Abnormality of the cardiovascular system"]
["C0004153","Atherosclerosis",1322,3,"0.22350184808457763","Abnormality of the cardiovascular system"]
["C0007222","Cardiovascular Diseases",1322,3,"0.08251658952238015","Abnormality of the cardiovascular system"]
["C2613439","Extramedullary Hematopoiesis (disorder)",1320,3,"0.06046716607367982","Abnormality of blood and blood-forming tissues"]
["C2931351","Familial myelofibrosis",1320,3,"0.7180248799368277"]
["C3809031","NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",1320,3,"0.5987370900416766"]
["C0015695","Fatty Liver",1316,3,"0.5990749101810389"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807"]
["C2711227","Steatohepatitis",1316,3,"0.38953306175171104","Abnormality of the digestive system"]
["C3151185","SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY",1312,3,"0.9914935111076358"]
["C3151186","NEPHRONOPHTHISIS 12",1312,3,"0.9830032650755726"]
["C3279203","JOUBERT SYNDROME 11",1312,3,"0.9914935111076358"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0"]
["C0339730","Blindness, Acquired",1301,3,"1.0"]
["C0376288","Amaurosis",1301,3,"1.0"]
["C0750958","Blindness, Monocular",1301,3,"1.0"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089"]
["C3150354","IMMUNODEFICIENCY, COMMON VARIABLE, 2",1298,3,"0.6181049441109089"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897","Abnormality of the immune system"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897","Abnormality of the digestive system"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0"]
["C3151063","MACULAR DEGENERATION, AGE-RELATED, 5",1289,3,"1.0"]
["C4310783","PREMATURE OVARIAN FAILURE 11",1289,3,"1.0"]
["C0393697","Epilepsy with grand mal seizures on awakening (disorder)",1288,3,"1.0"]
["C1854107","Hyperaldosteronism, Familial, Type II",1288,3,"1.0"]
["C3810242","LEUKOENCEPHALOPATHY WITH ATAXIA",1288,3,"1.0"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0"]
["C4225327","EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",1287,3,"1.0"]
["C4274995","Lissencephaly with cerebellar hypoplasia",1287,3,"1.0"]
["C0155568","Rheumatic aortic regurgitation",1275,3,"0.8568797603793529"]
["C0263009","Sclerosis of the skin",1275,3,"0.6239397720381178"]
["C0264774","Mitral and aortic incompetence",1275,3,"0.8568797603793529"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721"]
["C3715165","LEFT VENTRICULAR NONCOMPACTION 10",1271,3,"0.9957930780562956"]
["C3809346","CARDIOMYOPATHY, DILATED, 1MM",1271,3,"0.9957930780562956"]
["C0271902","Microcytic normochromic anemia",1270,3,"0.7826772402854394","Abnormality of blood and blood-forming tissues"]
["C1839832","Noncompaction cardiomyopathy",1270,3,"0.12856312160168254","Abnormality of the cardiovascular system"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171"]
["C3714602","Staphylococcal toxic shock syndrome",1266,3,"0.2689950293512008"]
["C4015141","MENTAL RETARDATION, AUTOSOMAL DOMINANT 29",1266,3,"0.7780821530583171"]
["C2674249","Anemia, Sideroblastic, Autosomal Dominant",1262,3,"1.0"]
["C4225180","EVEN-PLUS SYNDROME",1262,3,"1.0"]
["C4225428","ANEMIA, SIDEROBLASTIC, 4",1262,3,"1.0"]
["C2673914","Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",1260,3,"0.677213894756849"]
["C4225155","ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",1260,3,"0.9095043682710268"]
["C4225178","SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",1260,3,"0.9095043682710268"]
["C0030293","Pancreatic Insufficiency",1257,3,"0.002670792483117292","Abnormality of the digestive system"]
["C0267963","Exocrine pancreatic insufficiency",1257,3,"0.5081381914199979","Abnormality of the digestive system"]
["C0554119","Pancreatic malabsorption",1257,3,"0.2519420493453454"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017","Abnormality of metabolism/homeostasis"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","Abnormality of head or neck"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","Abnormality of the skeletal system"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792","Abnormality of head or neck"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792","Abnormality of the skeletal system"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0"]
["C1969106","Osteopetrosis, Autosomal Recessive 4",1244,3,"0.5252547295447586"]
["C3179239","Osteopetrosis Autosomal Dominant Type 2",1244,3,"0.7759970358718379"]
["C3645711","Congenital Osteopetrosis",1244,3,"0.187607563636263"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567","Abnormality of the nervous system"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","Abnormality of the eye"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525","Abnormality of the nervous system"]
["C4274118","Joubert syndrome with ocular defect",1238,3,"-0.04647399350109089"]
["C1851479","Keratoderma palmoplantaris transgrediens",1236,3,"1.0"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0"]
["C4509933","Peripheral neuropathy with sensorineural hearing impairment syndrome",1236,3,"1.0"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444"]
["C4310705","JOUBERT SYNDROME 28",1228,3,"0.9820205015404687"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248"]
["C3280898","JOUBERT SYNDROME 9/15, DIGENIC",1227,3,"0.9452684881936295"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0"]
["C3150796","NEPHRONOPHTHISIS 11",1223,3,"1.0"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587","Abnormality of the genitourinary system"]
["C3263719","Primary acquired melanosis",1217,3,"0.7860073215602715"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602","Abnormality of metabolism/homeostasis"]
["C4304578","1p21.3 microdeletion syndrome",1204,3,"0.9948528701877237"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","Abnormality of head or neck"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","Abnormality of the nervous system"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","Abnormality of the digestive system"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677","Abnormality of the genitourinary system"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697"]
["C1865804","Peroxisome Biogenesis Disorder, Complementation Group E",1185,3,"0.8349919383499697"]
["C3151055","ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",1182,3,"0.9993123421193053"]
["C3502131","Adrenal Insufficiency, Congenital",1182,3,"0.9996563911001033"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186","Abnormality of the genitourinary system"]
["C0432475","XX males",1177,3,"0.2239661574993518"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687"]
["C2931347","Cardiac form of generalized glycogenosis",1172,3,"1.0"]
["C3888924","Glycogen storage disease due to acid maltase deficiency, infantile onset",1172,3,"1.0"]
["C3888925","Pompe\\'s disease adult onset",1172,3,"1.0"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208"]
["C1832243","CARDIOMYOPATHY, DILATED, 1D (disorder)",1169,3,"1.0"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0"]
["C2676271","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)",1169,3,"1.0"]
["C0032027","Pityriasis Rubra Pilaris",1168,3,"0.9995933153685531"]
["C1304140","Familial psoriasis",1168,3,"0.9997966453559083"]
["C1864497","PSORIASIS 2",1168,3,"0.9997966453559083"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973","Abnormality of metabolism/homeostasis"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939"]
["C0271528","Isosexual precocious puberty",1157,3,"1.0","Abnormality of the endocrine system"]
["C3553841","HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA",1157,3,"1.0"]
["C3805879","PRECOCIOUS PUBERTY, CENTRAL, 1",1157,3,"1.0"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","Abnormality of the nervous system"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","Abnormality of the respiratory system"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614"]
["C2749861","MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)",1148,3,"1.0"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0"]
["C3150172","MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)",1148,3,"1.0"]
["C2749862","Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",1147,3,"0.513921222372273"]
["C3501849","Mngie Without Leukoencephalopathy",1147,3,"0.8595560550091821"]
["C3711125","Mitochondrial DNA Depletion Syndrome 8A",1147,3,"0.8595560550091821"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968"]
["C4476617","Autonomic visceral myopathy",1146,3,"0.9424078499136811"]
["C4476618","Degenerative enteric myopathy",1146,3,"0.9424078499136811"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629"]
["C4015307","PERRAULT SYNDROME 5",1145,3,"0.9991926175330871"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869","Abnormality of the nervous system"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176"]
["C3151221","TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3",1135,3,"0.5597699900588633"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148"]
["C1876171","Polyasplenia",1134,3,"1.0"]
["C1876172","VAH, AUTOSOMAL RECESSIVE",1134,3,"1.0"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989"]
["C2981142","Refractory anemia, without ringed sideroblasts, without excess blasts",1132,3,"-0.19870393161390473"]
["C4015323","LEUKODYSTROPHY, HYPOMYELINATING, 9",1132,3,"0.4915720836967764"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","Abnormality of blood and blood-forming tissues"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","Abnormality of metabolism/homeostasis"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996","Abnormality of the immune system"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","Abnormality of blood and blood-forming tissues"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","Abnormality of metabolism/homeostasis"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","Abnormality of the immune system"]
["C3279824","Kappa-Chain Deficiency",1130,3,"0.6549700904767264"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755","Abnormality of the eye"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315"]
["C3495489","Rieger eye malformation sequence",1127,3,"0.8584904938658368"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408"]
["C4073107","Incomplete congenital stationary night blindness",1123,3,"0.9261056152559028","Abnormality of the eye"]
["C2677713","Ichthyosis, X-Linked, Complicated",1117,3,"0.9556819931915008"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345"]
["C4274085","Syndromic recessive X-linked ichthyosis",1117,3,"0.9556819931915008"]
["C1852759","Papillorenal syndrome",1115,3,"1.0"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0"]
["C4014925","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7",1115,3,"1.0"]
["C3553989","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",1112,3,"0.2772555109619926"]
["C4015635","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",1112,3,"0.5676995580102657"]
["C4310763","SPINOCEREBELLAR ATAXIA 43",1112,3,"0.10241334539682348"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0"]
["C4225183","BRACHYDACTYLY, TYPE A1, D",1111,3,"1.0"]
["C4225404","ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",1111,3,"1.0"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428"]
["C1300268","Brachydactyly syndrome type C",1110,3,"0.8229665189170458"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0"]
["C3554446","BRACHYDACTYLY, TYPE A1, C",1109,3,"1.0"]
["C3809104","SYMPHALANGISM, PROXIMAL, 1B",1109,3,"1.0"]
["C0175700","Multiple synostosis syndrome",1107,3,"0.7230158543322864"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652"]
["C1861385","SYMPHALANGISM, PROXIMAL",1107,3,"0.28870098984799647","Abnormality of the skeletal system"]
["C0263746","Osteoarthritis of the hand",1105,3,"0.2822629998150747"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266"]
["C0002873","Anemia of chronic disease",1103,3,"0.631678303791508"]
["C0034902","Pure Red-Cell Aplasia",1103,3,"0.8017850725574002","Abnormality of blood and blood-forming tissues"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135"]
["C0151449","Primary SjÃ¶gren\\'s syndrome",1102,3,"0.04651040590251926"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424"]
["C1843808","CARDIOMYOPATHY, DILATED, 1M",1090,3,"1.0"]
["C2677491","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",1090,3,"1.0"]
["C4025009","Impaired myocardial contractility",1090,3,"1.0","Abnormality of the cardiovascular system"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226"]
["C2932678","Inherited Peripheral Neuropathy",1084,3,"0.8785976404641749"]
["C1853995","SEIZURES, BENIGN FAMILIAL INFANTILE, 2",1081,3,"0.900833527316034"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048"]
["C1868681","DYSTONIA 12",1080,3,"0.8881787002829464"]
["C3553788","ALTERNATING HEMIPLEGIA OF CHILDHOOD 2",1080,3,"0.8891807681023269"]
["C1865322","MIGRAINE, FAMILIAL HEMIPLEGIC, 2",1077,3,"0.9986309928846427"]
["C1865323","Migraine, Familial Basilar",1077,3,"0.9993483083046233"]
["C3549447","ALTERNATING HEMIPLEGIA OF CHILDHOOD 1",1077,3,"0.9993483083046233"]
["C0270860","Basilar-Type Migraine",1076,3,"0.25261010316084404"]
["C0270862","Hemiplegic migraine",1076,3,"0.5529862300163528"]
["C0338484","Familial Hemiplegic Migraine",1076,3,"0.2339266551635054"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022"]
["C3280443","MYOPATHY, DISTAL, TATEYAMA TYPE",1075,3,"0.4566869391734209"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836"]
["C1850096","Pancreatic Agenesis, Congenital",1069,3,"0.6717798979190753"]
["C0023213","Ventricular Outflow Obstruction, Left",1064,3,"1.0"]
["C0042512","Ventricular Outflow Obstruction",1064,3,"1.0"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0"]
["C0271714","Hypoglycemia, leucine-induced",1062,3,"1.0"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0"]
["C4274080","Autosomal dominant hyperinsulinism due to SUR1 deficiency",1062,3,"1.0"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499"]
["C0085569","Metabolic acidosis, NAG, acidifying salts",1054,3,"0.8628476839644287","Abnormality of metabolism/homeostasis"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","Abnormality of the genitourinary system"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871","Abnormality of metabolism/homeostasis"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221"]
["C0002891","Anemia, Neonatal",1052,3,"1.0"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0"]
["C2674219","SPHEROCYTOSIS, HEREDITARY, 2",1052,3,"1.0"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341"]
["C3151898","MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",1047,3,"0.5786318294775631"]
["C3278664","LIVER FAILURE, INFANTILE, TRANSIENT",1047,3,"-0.12010217163380388"]
["C0270855","Early myoclonic encephalopathy",1041,3,"0.4467736328480076"]
["C0752324","Focal Tonic Seizures",1041,3,"0.7361462163959118","Abnormality of the nervous system"]
["C4225360","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30",1041,3,"0.4283541506374561"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0"]
["C4014656","CARDIOMYOPATHY, DILATED, 1NN",1033,3,"1.0"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933","Abnormality of the eye"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933","Abnormality of the nervous system"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916","Abnormality of the nervous system"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916","Abnormality of the endocrine system"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975"]
["C0002884","Hypochromic anemia",1030,3,"0.49288060004750484","Abnormality of blood and blood-forming tissues"]
["C2673913","Anemia, Hypochromic Microcytic, With Iron Overload",1030,3,"0.6277283849723938"]
["C3806153","ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",1030,3,"0.6686264157314609"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132","Abnormality of the genitourinary system"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789"]
["C0302486","Erythrophagocytosis",1019,3,"0.4640616262681068"]
["C1864648","CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",1019,3,"0.6594294626506643"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126"]
["C0580190","3-Phosphoglycerate dehydrogenase deficiency",1008,3,"0.886596251260698"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698"]
["C0432253","Bruck syndrome",1006,3,"0.7474477853062812"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0"]
["C0745186","hypoventilation syndrome",999,3,"1.0"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953"]
["C0342162","Compensated hypothyroidism",993,3,"0.51635057976103","Abnormality of the endocrine system"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","Abnormality of the nervous system"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113","Abnormality of the cardiovascular system"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821"]
["C1744558","T-lymphocyte deficiency",990,3,"0.7941676321980821"]
["C3150700","MENTAL RETARDATION, AUTOSOMAL DOMINANT 20",985,3,"0.7274649641150404"]
["C4225434","CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",985,3,"0.5370699789047225"]
["C4304529","5q14.3 microdeletion syndrome",985,3,"0.6635328148757683"]
["C2676727","Chromosome 1q43-Q44 Deletion Syndrome",984,3,"0.8780870026494487"]
["C3808184","MENTAL RETARDATION, AUTOSOMAL DOMINANT 22",984,3,"0.8161607633831922"]
["C4273897","Distal monosomy 1q",984,3,"0.8426823480739919"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832","Abnormality of metabolism/homeostasis"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562"]
["C1261969","Type I hyperlipidaemia",978,3,"0.939650428157356"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356"]
["C1274228","Chylomicronemia syndrome",977,3,"0.1772955585516702"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897"]
["C4014767","HYPERLIPOPROTEINEMIA, TYPE ID",977,3,"-0.11687904109184909"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475"]
["C0029438","Massive Osteolyses",975,3,"0.9413069601199054"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588"]
["C0002735","Oppenheim\\'s Disease",972,3,"0.6460526699610827"]
["C0027868","Neuromuscular Diseases",972,3,"0.5249161850635937"]
["C0751381","Foley-Denny-Brown Syndrome",972,3,"0.6460526699610827"]
["C0017536","Giardiasis",971,3,"0.7029823815844127"]
["C0398562","Triose phosphate isomerase deficiency",971,3,"0.8154253186796703"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703"]
["C3809006","CARDIOFACIOCUTANEOUS SYNDROME 3",968,3,"-0.044681902698250266"]
["C4073145","Hyperkeratosis pilaris",968,3,"0.6092016001181005","Abnormality of the integument"]
["C4225282","NOONAN SYNDROME 9",968,3,"0.3194107486488001"]
["C1842675","AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)",959,3,"0.6233561816196592"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964"]
["C3539195","TREMOR, HEREDITARY ESSENTIAL, 4",959,3,"0.8203467912697964"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956","Abnormality of the nervous system"]
["C1997740","Segmental dystonia",950,3,"0.43799549855031084"]
["C2875058","Familial torsion dystonia",950,3,"0.5394380145597845"]
["C0154676","Organic writer\\'s cramp",948,3,"0.14318091640411917","Abnormality of the nervous system"]
["C1834570","Myoclonic dystonia",948,3,"0.5935597966934463"]
["C3697670","Spinal cord myoclonus",948,3,"0.5457101255958811","Abnormality of the nervous system"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906"]
["C4540439","RETINITIS PIGMENTOSA 80",937,3,"0.9560038819681063"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435"]
["C1865643","Cholestasis, progressive familial intrahepatic 3",929,3,"0.9995862957698269"]
["C2609268","Low phospholipid-associated cholelithiasis",929,3,"0.9991717793595999"]
["C3554241","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",929,3,"0.9995862957698269"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518","Abnormality of the integument"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518","Abnormality of the immune system"]
["C0409974","Lupus Erythematosus",921,3,"0.8960764006613194"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","Abnormality of the nervous system"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967","Abnormality of the digestive system"]
["C4310613","POLYCYSTIC LIVER DISEASE 1",916,3,"0.28097223288324835"]
["C4310769","POLYCYSTIC LIVER DISEASE 2",916,3,"0.3010032353390605"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","Abnormality of the genitourinary system"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121","Abnormality of the digestive system"]
["C0267834","Liver cyst",915,3,"0.3012900130798916","Abnormality of the digestive system"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0"]
["C1847903","Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",914,3,"1.0"]
["C3809272","LETHAL CONGENITAL CONTRACTURE SYNDROME 5",914,3,"1.0"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0"]
["C2678476","Cardiomyopathy, Dilated, 1y",907,3,"1.0"]
["C3808145","LEFT VENTRICULAR NONCOMPACTION 9",907,3,"1.0"]
["C1836448","Nemaline myopathy 1",906,3,"1.0"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0"]
["C3714994","CAP MYOPATHY 1",906,3,"1.0"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309"]
["C1836447","Nemaline myopathy 4",904,3,"1.0"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0"]
["C3807907","CAP MYOPATHY 2",904,3,"1.0"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973"]
["C3150703","FRONTONASAL DYSPLASIA 2",899,3,"0.7487890370512973"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385"]
["C3810041","ALZHEIMER DISEASE 18",897,3,"0.5402396229866435"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0","Abnormality of the integument"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0","Abnormality of limbs"]
["C4024872","Progressive reticulate hyperpigmentation",896,3,"1.0","Abnormality of the integument"]
["C0343111","Naegeli syndrome",895,3,"1.0"]
["C3715082","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",895,3,"1.0"]
["C4021831","Hypohidrosis or hyperhidrosis",895,3,"1.0","Abnormality of the integument"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934"]
["C2936861","Cortisol 11-beta-ketoreductase deficiency",893,3,"0.9460125033708048"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191"]
["C1855038","Hepatocellular necrosis",881,3,"0.7549663395038722","Abnormality of the digestive system"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017"]
["C0748540","Scleroderma, Limited",878,3,"0.8699461372542555"]
["C1258104","Diffuse Scleroderma",878,3,"0.7959991160811233"]
["C0406556","Hereditary acrokeratotic poikiloderma of Weary",875,3,"0.9998800359880042"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676"]
["C4024863","Diffuse skin atrophy",875,3,"0.9998800359880042","Abnormality of the integument"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952"]
["C2678048","Spinocerebellar Ataxia, X-Linked 5",873,3,"0.12215868177455817"]
["C1852577","FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)",865,3,"0.7686061981518031"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736"]
["C0339534","Usher syndrome type 2",864,3,"0.38304931576176277"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602"]
["C1848639","USHER SYNDROME, TYPE IA, FORMERLY",861,3,"0.9812096156815548"]
["C1848640","USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY",861,3,"0.9812096156815548"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0"]
["C0270736","Essential Tremor",852,3,"0.5464091227042035","Abnormality of the nervous system"]
["C0393615","Familial Tremor",852,3,"0.6111263431041652"]
["C3810400","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19",852,3,"0.08425671391134876"]
["C1836522","Schindler Disease, Type II",851,3,"1.0"]
["C1836544","Schindler Disease, Type I",851,3,"1.0"]
["C1836545","Schindler Disease, Type III",851,3,"1.0"]
["C0019099","Hemorrhagic Fever, Crimean",845,3,"0.8495692779949102"]
["C2062416","Sindbis virus infection",845,3,"0.46344353527434035"]
["C4015293","IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION",845,3,"0.8495692779949102"]
["C0032461","Polycythemia",844,3,"0.3964866500659292","Abnormality of blood and blood-forming tissues"]
["C0152264","Familial erythrocytosis",844,3,"0.16401170177288724"]
["C1868945","Polyglobulia",844,3,"-0.04673501290061726"]
["C0268405","Hemodialysis-associated amyloidosis",843,3,"0.9995847969407822"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562"]
["C4302669","Autosomal dominant beta2-microglobulinic amyloidosis",843,3,"0.9995847969407822"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323"]
["C1861827","Cataract, Nuclear Diffuse Nonprogressive",835,3,"1.0"]
["C3805411","CATARACT 30",835,3,"1.0"]
["C4024821","Diffuse nuclear cataract",835,3,"1.0","Abnormality of the eye"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807"]
["C1533847","Disorder of skeletal muscle",833,3,"0.2552427363235237","Abnormality of the musculature"]
["C1844917","Intermittent lactic acidemia",833,3,"0.7452101373728698","Abnormality of metabolism/homeostasis"]
["C0036310","Scheuermann\\'s Disease",829,3,"0.4999999999999999","Abnormality of the skeletal system"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982"]
["C3553660","SOTOS SYNDROME 2",829,3,"0.8200569756647982"]
["C0339651","Horizontal gaze palsy",827,3,"0.9666845092685129"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558"]
["C2062713","Progressive ophthalmoplegia",827,3,"0.9666845092685129","Abnormality of the eye"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568"]
["C1838114","Generalized limb muscle atrophy",823,3,"0.38499870284385157","Abnormality of the musculature"]
["C3150802","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",823,3,"0.7245721207629258"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006","Abnormality of blood and blood-forming tissues"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006","Abnormality of metabolism/homeostasis"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006","Abnormality of the immune system"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006"]
["C0221207","Urticaria due to cold",814,3,"1.0"]
["C3280914","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3",814,3,"1.0"]
["C3553961","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",814,3,"1.0"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","Abnormality of head or neck"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","Abnormality of the eye"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","Abnormality of the cardiovascular system"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929","Abnormality of the immune system"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Abnormality of head or neck"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Abnormality of the eye"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Abnormality of the cardiovascular system"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Abnormality of the immune system"]
["C2930821","Keratitis sicca",798,3,"0.997567866970376"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984","Abnormality of the eye"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183","Abnormality of the eye"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699"]
["C1272174","Scotopic sensitivity",791,3,"1.0"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0"]
["C0043167","Pertussis",785,3,"0.6912462089672032"]
["C0043168","Whooping cough due to unspecified organism",785,3,"0.28291312439684885"]
["C4015695","LONG QT SYNDROME 15",785,3,"0.547801524240991"]
["C2750466","Cardiomyopathy, Dilated, 1EE",783,3,"1.0"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0"]
["C0085612","Ventricular arrhythmia",782,3,"0.23372798040210413","Abnormality of the cardiovascular system"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972"]
["C2063326","Right ventricular cardiomyopathy",782,3,"0.530577282276811","Abnormality of the cardiovascular system"]
["C0694539","Chronic atrial fibrillation",776,3,"0.3908464338762619","Abnormality of the cardiovascular system"]
["C3279693","ATRIAL FIBRILLATION, FAMILIAL, 11",776,3,"0.5675442384934412"]
["C4021885","Atrial cardiomyopathy",776,3,"0.5675442384934412","Abnormality of the cardiovascular system"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","Abnormality of the nervous system"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786"]
["C3714580","Hypokalemic periodic paralysis type 1",772,3,"0.6652086315805826"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863"]
["C3151431","ATRIAL FIBRILLATION, FAMILIAL, 9",767,3,"0.8454787802995483"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609"]
["C2732979","Acquired long QT syndrome",766,3,"0.7226407697041758"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609"]
["C0264893","Nodal rhythm disorder",764,3,"0.9999999999999991"]
["C0348626","Other specified cardiac arrhythmias",764,3,"0.9999999999999991"]
["C1399226","Ectopic rhythm",764,3,"0.9999999999999991"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868"]
["C0206525","Tuberculosis, Drug-Resistant",756,3,"0.6568205172927352"]
["C0581384","Chronic anemia",753,3,"1.0"]
["C1142276","Renal anemia",753,3,"1.0"]
["C1442826","Neonatal necrotizing enterocolitis",753,3,"1.0"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806"]
["C0151860","Acquired porencephaly",739,3,"0.7212362652483564"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212"]
["C4082173","Porencephaly",739,3,"0.8350679879689631","Abnormality of the nervous system"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0"]
["C0007194","Hypertrophic Cardiomyopathy",733,3,"0.22620869394767568","Abnormality of the cardiovascular system"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195","Abnormality of the genitourinary system"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195","Abnormality of metabolism/homeostasis"]
["C3150909","D-2-HYDROXYGLUTARIC ACIDURIA 2",727,3,"0.3286182771296225"]
["C3152055","D-2-HYDROXYGLUTARIC ACIDURIA 1",727,3,"0.5957431952119965"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","Abnormality of the skeletal system"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","Neoplasm"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298"]
["C3553958","METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA",726,3,"0.6091163941300523"]
["C0263627","Calcinosis universalis",720,3,"0.9898149399542363"]
["C0282102","Chondrodysplasia punctata, X-linked dominant type",720,3,"0.9758431221748454"]
["C4085243","MEND SYNDROME",720,3,"0.9898149399542363"]
["C1290587","Failure of tooth eruption",719,3,"1.0","Abnormality of head or neck"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0"]
["C1852222","Failure of Tooth Eruption, Primary",719,3,"1.0"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548"]
["C3670629","Orthokeratotic hyperkeratosis",715,3,"0.6939368978354226"]
["C0017612","Glaucoma, Open-Angle",706,3,"0.9176231352915618"]
["C0271148","Secondary Open Angle Glaucoma",706,3,"0.9130639727499217"]
["C0339573","Glaucoma, Primary Open Angle",706,3,"0.8729406052878422","Abnormality of the eye"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542"]
["C1408174","Hypertrophic neuropathy of infancy",689,3,"0.9999999999999986"]
["C1408182","Hereditary motor and sensory neuropathy, types I-IV",689,3,"0.9999999999999986"]
["C2875300","Peroneal muscular atrophy (axonal type) (hypertrophic type)",689,3,"0.9999999999999986"]
["C0265010","Ruptured thoracic aortic aneurysm",684,3,"1.0"]
["C0265012","Ruptured abdominal aortic aneurysm",684,3,"1.0"]
["C1305122","Thoracoabdominal aortic aneurysm, ruptured",684,3,"1.0"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213"]
["C3279664","Emberger syndrome",675,3,"1.0"]
["C3280030","GATA2 Deficiency",675,3,"1.0"]
["C3711382","Familial Acute Myeloid Leukemia with Mutated Cebpa",675,3,"1.0"]
["C0030481","Tropical Spastic Paraparesis",669,3,"0.7825710467700424"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169"]
["C4304725","Leber plus disease",666,3,"0.694539227517883"]
["C0031111","Periostitis",665,3,"0.9913935913667882","Abnormality of the skeletal system"]
["C0524988","Schnitzler Syndrome",665,3,"0.9888710994603438"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798"]
["C0268618","Cystathioninemia",651,3,"0.6261277013972278","Abnormality of metabolism/homeostasis"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008"]
["C0002874","Aplastic Anemia",649,3,"0.5901995607011472","Abnormality of blood and blood-forming tissues"]
["C0178416","Hypoplastic anemia",649,3,"0.6198763860470586","Abnormality of blood and blood-forming tissues"]
["C0348890","Aplastic anemia, idiopathic",649,3,"0.45142364766888704"]
["C0038605","Subungual hyperkeratosis",647,3,"0.12349593724483938","Abnormality of the integument"]
["C2609071","Olmsted syndrome",647,3,"0.6115441670349493"]
["C4225339","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",647,3,"0.6389246684184573"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879"]
["C4024788","Anterior chamber synechiae",645,3,"0.6250101944893658","Abnormality of the eye"]
["C0022904","Lacrimal Apparatus Diseases",644,3,"0.776674791710952"]
["C0152227","Excessive tearing",644,3,"0.5102236067263464","Abnormality of the eye"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952"]
["C4225370","MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",635,3,"1.0"]
["C4225371","MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",635,3,"1.0"]
["C4225372","MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",635,3,"1.0"]
["C0004782","Basal Ganglia Diseases",628,3,"0.8582926301108811","Abnormality of the nervous system"]
["C0015371","Extrapyramidal Disorders",628,3,"0.7655680214129266","Abnormality of the nervous system"]
["C0750951","Lenticulostriate Disorders",628,3,"0.8643775304349076"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249"]
["C2931035","Pulmonary alveolar proteinosis, congenital",622,3,"0.7010064470016536"]
["C3280574","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",622,3,"0.3343465929888127"]
["C0014078","Venezuelan equine encephalomyelitis",620,3,"0.6221572821299786"]
["C0275524","Coinfection",620,3,"0.37299630712862025"]
["C0276623","Chronic viral hepatitis",620,3,"0.6052393843629835"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716"]
["C4310667","ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",616,3,"0.9995469127726716"]
["C0342495","Macronodular adrenal hyperplasia",614,3,"0.5687111613923593","Abnormality of the endocrine system"]
["C1857451","Acth-Independent Macronodular Adrenal Hyperplasia",614,3,"-0.05936912691847838"]
["C4014803","ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2",614,3,"0.6554777932173166"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663"]
["C3280402","SCLEROSTEOSIS 2",604,3,"0.9092710230453434"]
["C4225377","MYASTHENIC SYNDROME, CONGENITAL, 17",604,3,"0.9092710230453434"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741"]
["C0038522","Subacute Sclerosing Panencephalitis",597,3,"0.7063493783066593"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035"]
["C0156221","Acute glomerulonephritis",597,3,"0.7890951737804504"]
["C1863534","Stargardt disease 4",590,3,"0.7923232625833374"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","Abnormality of the genitourinary system"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","Abnormality of the immune system"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782"]
["C0032269","Pneumococcal Infections",588,3,"0.2159556364799022"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705"]
["C1843256","IRAK4 Deficiency",588,3,"-0.14411104728402485"]
["C1862937","AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1",582,3,"0.7179597827326383"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975"]
["C1838644","Stargardt disease 3",578,3,"0.8897922138617702"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565"]
["C3280856","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",578,3,"0.9630267096025565"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448"]
["C3552227","ACHROMATOPSIA 6",577,3,"0.8575898266315448"]
["C3665342","Progressive cone degeneration",577,3,"0.7549496193588813","Abnormality of the eye"]
["C0242852","Proliferative vitreoretinopathy",576,3,"0.8723962637600372"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777","Abnormality of the eye"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777","Abnormality of the cardiovascular system"]
["C1850109","Vitreoretinopathy",576,3,"0.5911328219081341"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728","Abnormality of blood and blood-forming tissues"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803"]
["C1960459","Hereditary angioedema with normal C1 esterase inhibitor activity",561,3,"0.9853275367424803"]
["C0398775","Hereditary C1 esterase inhibitor deficiency - deficient factor",558,3,"1.0"]
["C0398776","Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",558,3,"1.0"]
["C1852700","Complement Component 4, Partial Deficiency Of",558,3,"1.0"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576"]
["C0342191","Familial dyshormonogenetic goiter",552,3,"0.862527491884882"]
["C0342194","Thyroid Dyshormonogenesis 3",552,3,"0.7827759616504689"]
["C1321809","HYPOTHYROIDISM, GOITROUS",552,3,"0.29301253514214554"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107"]
["C0345244","Neuronal intestinal dysplasia",551,3,"0.9599060098797502"]
["C0878627","Mucosal neuromas",551,3,"0.9599060098797502"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655"]
["C4020801","Respiratory complex II deficiency",543,3,"0.7038195613641884"]
["C4025278","Stress/infection-induced lactic acidosis",543,3,"0.8029417514500117","Abnormality of metabolism/homeostasis"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884"]
["C3887743","WILMS TUMOR 2",535,3,"0.9993422950979884"]
["C0521648","Neonatal respiratory failure",534,3,"1.0"]
["C1970456","Surfactant Metabolism Dysfunction, Pulmonary, 3",534,3,"1.0"]
["C3161105","Neuroendocrine cell hyperplasia of infancy",534,3,"1.0"]
["C0400914","Acute hepatitis C",531,3,"0.6261110645443679"]
["C3887641","Recurrent hepatitis",531,3,"0.49895779289241626"]
["C4288963","Hepatitis C Virus Infection",531,3,"0.3365397970214199"]
["C3714932","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",518,3,"0.7035716343580917"]
["C3809216","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",518,3,"0.6580359225190742"]
["C3809221","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14",518,3,"0.8170220017721667"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837"]
["C3150413","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",515,3,"0.7043975488648069"]
["C3150411","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",514,3,"0.6411331857370002"]
["C3150416","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2",514,3,"0.807506899125178"]
["C3150418","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",514,3,"0.6914998959080981"]
["C1969024","CARDIOMYOPATHY, DILATED, 1X",512,3,"0.9366599214634904"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904"]
["C2751052","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4",512,3,"0.8331274404615924"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548","Abnormality of limbs"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976"]
["C0085652","Pyoderma Gangrenosum",500,3,"0.6918009783286836"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383"]
["C0025289","Meningitis",488,3,"0.4054667660952955","Abnormality of the nervous system"]
["C0025289","Meningitis",488,3,"0.4054667660952955","Abnormality of the immune system"]
["C0030167","Pachymeningitis",488,3,"0.5842891022745549"]
["C0085396","Neisseriaceae Infections",488,3,"0.36184227237429056"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452","Abnormality of the immune system"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452","Abnormality of the digestive system"]
["C0238339","Hereditary pancreatitis",482,3,"0.679838830712387"]
["C4080064","Autosomal Dominant Hereditary Pancreatitis",482,3,"0.5804737220382183"]
["C0340100","High altitude pulmonary edema",473,3,"0.9623565415098887"]
["C0340552","High altitude pulmonary hypertension",473,3,"0.9820151197518853"]
["C3810403","MOYAMOYA DISEASE 6 WITH ACHALASIA",473,3,"0.9820151197518853"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0"]
["C3541474","ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",458,3,"1.0"]
["C0016052","Fibromuscular Dysplasia",452,3,"0.9238496277384697","Abnormality of the cardiovascular system"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647"]
["C2315541","Diverticulum of renal calyx",452,3,"0.9238496277384697","Abnormality of the genitourinary system"]
["C2751316","Glaucoma 3, Primary Congenital, D",447,3,"1.0"]
["C3538951","MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",447,3,"1.0"]
["C3553785","WEILL-MARCHESANI SYNDROME 3",447,3,"1.0"]
["C0339578","Corticosteroid-induced glaucoma",445,3,"0.8538617180604857"]
["C1842028","GLAUCOMA 1, OPEN ANGLE, A",445,3,"0.5674554783513097"]
["C4068743","Juvenile open angle",445,3,"0.9064004855289406"]
["C1856439","GLAUCOMA 3, PRIMARY CONGENITAL, A",444,3,"0.2380619977083376"]
["C2981140","Glaucoma of childhood",444,3,"0.41241971712338665"]
["C3278153","GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",444,3,"0.7011851234458101"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217"]
["C4015146","RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES",435,3,"0.998645617247303"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398"]
["C2677774","Age-Related Macular Degeneration type 11",433,3,"0.7150800102457622"]
["C1704299","Hypobetalipoproteinemia, Familial, Apolipoprotein B",432,3,"0.9924597476952364"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181"]
["C3888316","Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B",432,3,"0.9924597476952364"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225"]
["C0268323","Familial porphyria cutanea tarda",429,3,"0.9461494793810225"]
["C0342861","Uroporphyrinogen decarboxylase deficiency",429,3,"0.8874155545355793"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0"]
["C0856742","Post MI",423,3,"0.6130718739759924"]
["C1959859","Acute lyme disease",423,3,"0.7717929577686702"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702"]
["C1864851","Pigmented Nodular Adrenocortical Disease, Primary, 2",422,3,"0.4005477155037526"]
["C4025760","Primary hypercorticolism",422,3,"0.4160512167133256","Abnormality of the endocrine system"]
["C4304832","Primary pigmented nodular adrenocortical disease",422,3,"0.41926813142409314"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364"]
["C2675059","Refractory macrocytic anemia",401,3,"0.7833326365550884","Abnormality of blood and blood-forming tissues"]
["C0391816","Tietz syndrome",396,3,"1.0"]
["C1860339","WAARDENBURG SYNDROME, TYPE IIA",396,3,"1.0"]
["C4310625","COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",396,3,"1.0"]
["C0221228","Comedone",388,3,"0.2997783391966423"]
["C3280309","ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",388,3,"0.8370005939492603"]
["C4310760","LETHAL CONGENITAL CONTRACTURE SYNDROME 10",388,3,"0.8370005939492603"]
["C1843181","Noonan syndrome-like disorder with loose anagen hair",386,3,"1.0"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0"]
["C4478716","NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1",386,3,"1.0"]
["C1969342","PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",383,3,"0.9868324341050282"]
["C1969343","Pulmonary Hypertension, Primary, Fenfluramine-Associated",383,3,"0.993366345217903"]
["C3714844","Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",383,3,"0.993366345217903"]
["C0456702","Severe childhood autosomal recessive muscular dystrophy",372,3,"0.5271687596976515"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178"]
["C0085077","Sweet Syndrome",367,3,"0.953678479718495"]
["C0472762","Alpha trait thalassemia",367,3,"0.818970631667975"]
["C4016158","ALPHA-THALASSEMIA, HMONG TYPE",367,3,"0.953678479718495"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603","Abnormality of blood and blood-forming tissues"]
["C2873756","Severe beta thalassemia",365,3,"0.9386566716242557"]
["C3665425","Hemoglobin M Disease",365,3,"0.9317457366317579"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897"]
["C0472767","Beta thalassemia intermedia",364,3,"0.1724637368799377"]
["C4274391","Dominant beta-thalassemia",364,3,"0.6207944424505132"]
["C4290090","diabetes (mellitus) due to autoimmune process",360,3,"0.9999999999999989"]
["C4290091","diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction",360,3,"0.9999999999999989"]
["C4290092","idiopathic diabetes (mellitus)",360,3,"0.9999999999999989"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0"]
["C4084823","MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",355,3,"1.0"]
["C4225405","MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",355,3,"1.0"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225"]
["C1838313","Pick Complex",345,3,"0.6843124998593689"]
["C0038368","Stomatognathic Diseases",342,3,"0.9999999999999989"]
["C1704330","Dental Diseases",342,3,"0.9999999999999989"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989"]
["C0271846","Familial hyperparathyroidism",335,3,"0.6671952657434286"]
["C1840402","HYPERPARATHYROIDISM 1",335,3,"0.4071805099846771"]
["C1864729","HYPERPARATHYROIDISM 3",335,3,"0.6642752246845705"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0"]
["C2609259","Symphysis Pubis Dysfunction",334,3,"1.0"]
["C4310807","BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME",334,3,"1.0"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862"]
["C1832648","Hypoparathyroidism familial isolated",331,3,"0.8584214123250228"]
["C1840334","Hypoparathyroidism, Autosomal Recessive",331,3,"0.7384861939472478"]
["C1843244","EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2",325,3,"0.7528190837205182"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085"]
["C0751122","Infantile Severe Myoclonic Epilepsy",322,3,"0.18096337931088682"]
["C0752323","Focal Clonic Seizures",322,3,"0.6149643692687011","Abnormality of the nervous system"]
["C4023511","Obtundation status",322,3,"0.6649472954377083","Abnormality of the nervous system"]
["C2748541","Brugada Syndrome 5",320,3,"1.0"]
["C3809311","ATRIAL FIBRILLATION, FAMILIAL, 13",320,3,"1.0"]
["C4479236","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52",320,3,"1.0"]
["C1853345","Generalized Epilepsy With Febrile Seizures Plus, Type 4",319,3,"0.9558758559257231"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022"]
["C3151191","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",319,3,"0.9558758559257231"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248"]
["C2748518","Lumbar scoliosis",313,3,"0.5772452536497906","Abnormality of the skeletal system"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848"]
["C0342541","Precocious pubarche",312,3,"0.4262996437255822","Abnormality of the endocrine system"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0"]
["C4014962","FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG",311,3,"1.0"]
["C4274078","Hyperinsulinism due to HNF4A deficiency",311,3,"1.0"]
["C1709353","Osteofibrous Dysplasia",310,3,"0.996624613942208"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486"]
["C4084709","DEAFNESS, AUTOSOMAL RECESSIVE 97",310,3,"0.998311106158486"]
["C0019372","Herpesviridae Infections",303,3,"0.5875335653359417"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422"]
["C0037140","B Virus Infection",303,3,"0.5876875690390145"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754"]
["C3807295","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",301,3,"0.8967891029535924"]
["C0796122","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome",300,3,"0.027748819518484326"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968"]
["C3280168","NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",299,3,"0.1466285677888863"]
["C3280283","MENTAL RETARDATION, AUTOSOMAL DOMINANT 9",299,3,"0.5955823061584353"]
["C1839602","Neuropathy, Hereditary Sensory, X-Linked",297,3,"1.0"]
["C1842586","Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",297,3,"1.0"]
["C1850384","Neuropathy, Hereditary Sensory, Atypical",297,3,"1.0"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447"]
["C0751540","Morvan\\'s Disease",293,3,"0.7890591451917791"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","Abnormality of the nervous system"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","Abnormality of the endocrine system"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796"]
["C3875161","Anterior pituitary hormone deficiency",284,3,"0.7666949360137796"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","Abnormality of the genitourinary system"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","Abnormality of the nervous system"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","Abnormality of the endocrine system"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136","Abnormality of the genitourinary system"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136","Abnormality of the endocrine system"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673","Abnormality of the genitourinary system"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673","Abnormality of the endocrine system"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236"]
["C0342384","Idiopathic hypogonadotropic hypogonadism",275,3,"0.17421961945359982"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843","Abnormality of the nervous system"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843","Abnormality of the endocrine system"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394"]
["C0269209","Hydrometrocolpos",272,3,"0.4693343490007862","Abnormality of the genitourinary system"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0"]
["C1863371","BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY",271,3,"1.0"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595"]
["C0010930","Dacryocystitis",267,3,"0.7173204998084639","Abnormality of head or neck"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578"]
["C0948060","Iridocele",267,3,"0.8255745980932205"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828","Abnormality of metabolism/homeostasis"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975"]
["C0149877","Hypoglycemic encephalopathy",264,3,"1.0","Abnormality of the nervous system"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0"]
["C1864948","Hyperinsulinemic Hypoglycemia, Familial, 4",264,3,"1.0"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853"]
["C3554449","MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",260,3,"0.8375518442369936"]
["C4539767","EXUDATIVE VITREORETINOPATHY 7",260,3,"0.9367837382438853"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849","Abnormality of the integument"]
["C4085252","PAGET DISEASE OF BONE 3",250,3,"1.0"]
["C4225326","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3",250,3,"1.0"]
["C4310693","NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",250,3,"1.0"]
["C1963905","Infantile free sialic acid storage disease",249,3,"1.0"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0"]
["C2931872","Free sialic acid storage disease",249,3,"1.0"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706"]
["C2931471","Sialuria, French type",246,3,"0.7348478907662926"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","Abnormality of the genitourinary system"]
["C0559470","Allergy to peanuts",245,3,"0.938525446752615"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0"]
["C4274307","Hypoplastic tibia and postaxial polydactyly syndrome",238,3,"1.0"]
["C0022783","Vulvar Lichen Sclerosus",232,3,"0.7311292287761382"]
["C0023652","Lichen Sclerosus et Atrophicus",232,3,"0.56220929744473"]
["C0950124","Disease due to Papilloma virus",232,3,"0.43494557468927125"]
["C1832814","Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant",230,3,"1.0"]
["C3806402","EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION",230,3,"1.0"]
["C3806403","Continuous spike and waves during slow sleep",230,3,"1.0"]
["C0343047","Complement component 5 deficiency",226,3,"1.0"]
["C3810402","ECULIZUMAB, POOR RESPONSE TO",226,3,"1.0"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0","Abnormality of the integument"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0","Abnormality of the immune system"]
["C0010246","Coxsackievirus Infections",223,3,"0.39862949737194436"]
["C0027059","Myocarditis",223,3,"0.31942533247535854","Abnormality of the cardiovascular system"]
["C0869523","Carditis",223,3,"0.5032068956524463"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926"]
["C0796224","MENTAL RETARDATION, X-LINKED 18",220,3,"0.78215150987722"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077"]
["C3888244","AICARDI-GOUTIERES SYNDROME 7",209,3,"0.652794315815637"]
["C4225427","SINGLETON-MERTEN SYNDROME 1",209,3,"0.8288622551983255"]
["C0456097","Congenital viral disease",207,3,"0.9610102910404928"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823"]
["C3280721","CHILBLAIN LUPUS 2",207,3,"0.9610102910404928"]
["C0393591","AICARDI-GOUTIERES SYNDROME",205,3,"0.6241787237771206"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253"]
["C2919166","Autosomal dominant focal segmental glomerulosclerosis",195,3,"0.6037754305541225"]
["C4049702","Focal Segmental Glomerulosclerosis, Not Otherwise Specified",195,3,"-0.09030889677372743"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364"]
["C3715156","AMYOTROPHIC LATERAL SCLEROSIS 20",187,3,"0.9389039000347364"]
["C3809469","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3",187,3,"0.7697707142525831"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043"]
["C3151403","AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA",186,3,"0.8640737966493615"]
["C4225244","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",186,3,"0.8640737966493615"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0"]
["C2930826","Acute malaria",175,3,"1.0"]
["C3825986","Meningitis in children",175,3,"1.0"]
["C3151443","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",171,3,"1.0"]
["C3151444","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4",171,3,"1.0"]
["C3553617","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1",171,3,"1.0"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915","Abnormality of the respiratory system"]
["C0034535","Radiation Syndrome",168,3,"0.7596362438178388"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388"]
["C0003969","Ascorbic Acid Deficiency",164,3,"0.9765319805014785","Abnormality of metabolism/homeostasis"]
["C3279786","ANHAPTOGLOBINEMIA",164,3,"0.9539726447270853"]
["C3279787","HYPOHAPTOGLOBINEMIA (disorder)",164,3,"0.9765319805014785"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813","Abnormality of the eye"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813","Abnormality of the immune system"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559"]
["C3714757","Juvenile rheumatoid arthritis",149,3,"0.2129721415189397","Abnormality of the skeletal system"]
["C0264969","Aneurysm of celiac artery",146,3,"1.0"]
["C0742747","High-output congestive heart failure",146,3,"1.0","Abnormality of the cardiovascular system"]
["C4023119","Mesenteric artery aneurysm",146,3,"1.0"]
["C0029804","Other specified hemorrhagic conditions",143,3,"0.9684189356577974"]
["C0340804","Hereditary vascular fragility",143,3,"0.9684189356577974"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394"]
["C3806737","DEAFNESS, X-LINKED 6",141,3,"0.329413822965663"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891"]
["C0035579","Rickets",126,3,"0.26626137724990145","Abnormality of the skeletal system"]
["C0221468","Vitamin D-dependent rickets",126,3,"0.5233397422833072"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874"]
["C0023283","Leishmaniasis, Cutaneous",123,3,"0.984115708481451"]
["C0086540","Leishmaniasis, New World",123,3,"0.9930968578826108"]
["C0086541","Urban cutaneous leishmaniasis",123,3,"0.9930968578826108"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298","Abnormality of metabolism/homeostasis"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057","Abnormality of the immune system"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057","Abnormality of the digestive system"]
["C0024205","Lymphadenitis",113,3,"0.8360195077066253","Abnormality of the immune system"]
["C1837023","CATARACT, CONGENITAL, CERULEAN TYPE, 3",111,3,"1.0"]
["C3540850","CATARACT 4, MULTIPLE TYPES",111,3,"1.0"]
["C3888390","Cataract, Punctate, Progressive Juvenile-Onset",111,3,"1.0"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048"]
["C0014179","Endometritis",110,3,"0.9940982941196048"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347"]
["C0157917","Pauciarticular juvenile rheumatoid arthritis",106,3,"0.31631902783291815"]
["C0221052","Chronic berylliosis",106,3,"0.5959839981607429"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174"]
["C0014324","Entamoebiasis",100,3,"0.6206861661801247"]
["C0151332","Active tuberculosis",100,3,"0.2215154056623684"]
["C4316791","Entamoeba histolytica Infection",100,3,"0.6206861661801247"]
["C0001828","Agricultural Workers\\' Diseases",97,3,"1.0"]
["C0019112","Hemorrhoids",97,3,"1.0"]
["C0282550","Persian Gulf Syndrome",97,3,"1.0"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079","Abnormality of the genitourinary system"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379"]
["C0149642","Cervical lymphadenitis",89,3,"0.7173049458911258"]
["C0149896","Primary gout",89,3,"0.7173049458911258"]
["C3890737","Autoinflammatory Syndrome",89,3,"0.4265838371316969"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766","Abnormality of metabolism/homeostasis"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766","Abnormality of the digestive system"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345"]
["C1761613","Conjunctival hyperemia",85,3,"0.9814759996404766"]
["C0015974","Periodic fever",84,3,"0.3318934246371938"]
["C3889136","Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome",84,3,"0.6241137905432769"]
["C4268691","Tumor necrosis factor receptor associated periodic syndrome [TRAPS]",84,3,"0.4331845087088078"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038"]
["C0023348","Leprosy, Lepromatous",77,3,"0.6627451881489584"]
["C0868908","Pancolitis",77,3,"0.8013174836134267"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286"]
["C1845604","Recurrent bacterial meningitis",72,3,"0.7930087106074266","Abnormality of the nervous system"]
["C0003615","Appendicitis",68,3,"0.9963609431550348"]
["C0729531","Viral respiratory infection",68,3,"0.9981758517332591"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464"]
["C1863053","Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy",65,3,"0.9798736161185492"]
["C3549448","ALZHEIMER DISEASE, PROTECTION AGAINST",65,3,"0.9798736161185492"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181","Abnormality of metabolism/homeostasis"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334"]
["C0029400","Osteitis",60,3,"0.49661527345423834"]
["C0263680","Chronic arthritis",60,3,"0.6693095654728507"]
["C2936258","Peri-Implantitis",60,3,"0.6270184777239977"]
["C0029877","Ear Inflammation",57,3,"0.27129105829368555"]
["C0340170","Complicated pneumoconiosis",57,3,"0.20204941957775405"]
["C0699744","Infection of ear",57,3,"0.13495340606489006"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665"]
["C0836924","Thrombocytosis",48,3,"0.5811053997945733","Abnormality of blood and blood-forming tissues"]
["C4273671","Inherited predisposition to essential thrombocythemia",48,3,"0.5768411149998041"]
["C4303761","Familial thrombocytosis",48,3,"0.6496419973713721"]
["C0002351","Altitude Sickness",45,3,"1.0"]
["C2673187","Erythrocytosis, Familial, 4",45,3,"1.0"]
["C4045968","Altitude Hypoxia",45,3,"1.0"]
["C0002063","Alkalosis",40,3,"0.5576724577582384","Abnormality of metabolism/homeostasis"]
["C0597854","renin induced hypertension",40,3,"0.5829787159870976"]
["C1397307","Cardiac fibrosis",40,3,"0.48008148630983444"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0"]
["C0030807","Pemphigus",30,3,"0.5529733602232959"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965"]
["C1332655","C3 DEFICIENCY",29,3,"1.0"]
["C1969651","Macular Degeneration, Age-Related, 9",29,3,"1.0"]
["C3151071","COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",29,3,"1.0"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296"]
["C4479260","AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",5,3,"0.5695994785299975"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","Abnormality of metabolism/homeostasis"]
["C1970051","METABOLIC SYNDROME, PROTECTION AGAINST",0,3,"0.6496303960143336"]
["C2930930","Abdominal obesity metabolic syndrome",0,3,"0.18983250123983675"]
["C1850985","Fragile Site 16p12",2198,2,"1.0"]
["C3149276","CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",2198,2,"1.0"]
["C0796218","MENTAL RETARDATION, X-LINKED 12",2196,2,"1.0"]
["C0796242","MENTAL RETARDATION, X-LINKED 35",2196,2,"1.0"]
["C0600336","Subcorneal pustular dermatosis",2195,2,"1.0"]
["C1274167","IgA pemphigus",2195,2,"1.0"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0"]
["C4310730","TOOTH AGENESIS, SELECTIVE, 8",2194,2,"1.0"]
["C0149756","Fasciitis, Plantar",2193,2,"1.0"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0"]
["C4014291","OOCYTE MATURATION DEFECT 1",2191,2,"0.8716015596375228"]
["C4540205","OOCYTE MATURATION DEFECT 3",2191,2,"0.8716012392107805"]
["C3810349","ALZHEIMER DISEASE 19",2190,2,"1.0"]
["C4540404","SPINOCEREBELLAR ATAXIA 46",2190,2,"1.0"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0"]
["C0549150","Pseudofolliculitis barbae (disorder)",2189,2,"1.0"]
["C0338650","Catatonia, Organic",2186,2,"1.0"]
["C0750992","Catatonia, Malignant",2186,2,"1.0"]
["C0029342","Orthomyxoviridae Infections",2185,2,"1.0"]
["C0276357","Swine influenza",2185,2,"1.0"]
["C1281440","Familial obesity",2184,2,"1.0"]
["C2937224","Constitutional obesity",2184,2,"1.0"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125"]
["C3245525","Familial renal glucosuria",2183,2,"0.9999979019244837"]
["C4304540","1q44 microdeletion syndrome",2182,2,"1.0"]
["C4479319","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54",2182,2,"1.0"]
["C0036093","Salivary Gland Diseases",2181,2,"1.0","Abnormality of head or neck"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0"]
["C3807873","FOVEAL HYPOPLASIA 2",2180,2,"1.0"]
["C1835845","Mitochondrial Phosphate Carrier Deficiency",2179,2,"1.0"]
["C4024201","Low-output congestive heart failure",2179,2,"1.0","Abnormality of the cardiovascular system"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651"]
["C4225317","ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",2178,2,"0.4299195452999688"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961","Abnormality of the musculature"]
["C0553757","Olfaction Disorders",2176,2,"1.0"]
["C3888024","Cacosmia",2176,2,"1.0"]
["C4024944","Profound static encephalopathy",2175,2,"1.0","Abnormality of the nervous system"]
["C4225203","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",2175,2,"1.0"]
["C4310663","SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",2174,2,"1.0"]
["C4310664","SUDDEN CARDIAC FAILURE, INFANTILE",2174,2,"1.0"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0"]
["C4310806","CATARACT 47",2173,2,"1.0"]
["C1855055","Microcephaly with spastic quadriplegia",2172,2,"1.0"]
["C4538630","MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS",2172,2,"1.0"]
["C1970414","Osteogenesis Imperfecta, Type V",2171,2,"0.9597158449731907"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112"]
["C3810160","SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",2169,2,"1.0"]
["C3810161","SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",2169,2,"1.0"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563"]
["C4021857","Speckled corneal dystrophy",2168,2,"0.9949909177015215","Abnormality of the eye"]
["C0796133","Ramon Syndrome",2167,2,"1.0"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0"]
["C2931893","Lysosomal beta-mannosidase deficiency",2166,2,"1.0"]
["C4048196","beta-Mannosidosis",2166,2,"1.0"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0"]
["C4225666","CHROMOSOME 15q14 DELETION SYNDROME",2165,2,"1.0"]
["C4310678","LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C4310682","INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C3150154","CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",2162,2,"1.0"]
["C3150701","CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",2162,2,"1.0"]
["C4022537","Triangular tongue",2161,2,"1.0","Abnormality of head or neck"]
["C4022537","Triangular tongue",2161,2,"1.0","Abnormality of the musculature"]
["C4225192","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",2161,2,"1.0"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0"]
["C3203738","Fowler syndrome",2159,2,"1.0"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0"]
["C4085582","MENTAL RETARDATION, X-LINKED 102",2158,2,"1.0"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0"]
["C3553625","FACIAL PARESIS, HEREDITARY CONGENITAL, 3",2157,2,"1.0"]
["C0268635","Acyl-CoA dehydrogenase deficiency",2156,2,"1.0"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","Abnormality of the genitourinary system"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0","Abnormality of metabolism/homeostasis"]
["C3151476","MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)",2154,2,"1.0"]
["C3280730","EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",2153,2,"1.0"]
["C3280734","FEBRILE SEIZURES, FAMILIAL, 11",2153,2,"1.0"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0"]
["C3809309","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",2151,2,"1.0"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0"]
["C4225323","BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",2150,2,"1.0"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0"]
["C0220721","CATARACT 46, JUVENILE-ONSET",2147,2,"1.0"]
["C2931791","Cataract Hutterite type",2147,2,"1.0"]
["C0740895","Hypochloremic metabolic alkalosis",2145,2,"1.0","Abnormality of metabolism/homeostasis"]
["C3151209","HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",2145,2,"1.0"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265"]
["C4014283","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",2144,2,"0.8804662006873856"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0","Abnormality of metabolism/homeostasis"]
["C3553636","INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",2143,2,"1.0"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807"]
["C0085423","Gram-Negative Bacterial Infections",2141,2,"0.9843319613353985"]
["C0085426","Gram-Positive Bacterial Infections",2141,2,"0.9849174799210693"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0"]
["C4283894","MENTAL RETARDATION, X-LINKED 61",2140,2,"1.0"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0"]
["C3806722","PARKINSONISM WITH SPASTICITY, X-LINKED",2137,2,"1.0"]
["C4539783","SPERMATOGENIC FAILURE 18",2136,2,"1.0"]
["C4539798","CILIARY DYSKINESIA, PRIMARY, 37",2136,2,"1.0"]
["C2751084","Cardiomyopathy, Dilated, 1CC",2134,2,"1.0"]
["C3151267","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",2134,2,"1.0"]
["C2678475","Cardiomyopathy, Dilated, 1z",2133,2,"1.0"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458"]
["C4225239","DESANTO-SHINAWI SYNDROME",2130,2,"1.0"]
["C4225431","CHROMOSOME 10p12-p11 DELETION SYNDROME",2130,2,"1.0"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648","Abnormality of metabolism/homeostasis"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0"]
["C4310811","MEESTER-LOEYS SYNDROME",2128,2,"1.0"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0"]
["C0398581","T-cell lymphocytosis",2126,2,"1.0"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666"]
["C0263912","Rotator cuff syndrome",2124,2,"0.6795023821736237"]
["C3492944","Lentiginosis Profusa",2124,2,"0.6933365101845443"]
["C3150897","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",2123,2,"1.0"]
["C3151351","DEAFNESS, AUTOSOMAL RECESSIVE 89",2123,2,"1.0"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","Abnormality of the genitourinary system"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191","Abnormality of the genitourinary system"]
["C3808589","IMMUNODEFICIENCY 32A",2121,2,"1.0"]
["C4016741","IMMUNODEFICIENCY 32B",2121,2,"1.0"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0"]
["C4014987","ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",2120,2,"1.0"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531"]
["C4310822","LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY",2118,2,"0.9948979750248561"]
["C0684324","Deficiency of phosphoglycerate kinase",2116,2,"0.9996383171337129"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976"]
["C3150912","CONE-ROD DYSTROPHY 15",2114,2,"1.0"]
["C3552852","RETINITIS PIGMENTOSA 65",2114,2,"1.0"]
["C4310791","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",2112,2,"1.0"]
["C4310792","DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",2112,2,"1.0"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102"]
["C4225418","MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",2111,2,"0.9993562479327174"]
["C3810295","SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",2110,2,"1.0"]
["C4014354","PONTOCEREBELLAR HYPOPLASIA, TYPE 9",2110,2,"1.0"]
["C3502075","Multiple Mitochondrial Dysfunctions Syndrome",2109,2,"0.3408546920892302"]
["C4225348","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4",2109,2,"0.6646486142146268"]
["C3809165","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3",2108,2,"1.0"]
["C4225322","SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",2108,2,"1.0"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0"]
["C4013360","GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",2107,2,"1.0"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0"]
["C3150973","THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)",2106,2,"1.0"]
["C0398593","Specific granule deficiency",2105,2,"0.9882304956667116"]
["C4479548","SPECIFIC GRANULE DEFICIENCY 2",2105,2,"0.9882813290181003"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0"]
["C4310699","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",2101,2,"0.9962469446876268"]
["C4310700","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44",2101,2,"0.9962356915624274"]
["C4022698","Acephalic spermatozoa",2100,2,"1.0","Abnormality of the genitourinary system"]
["C4310674","SPERMATOGENIC FAILURE 16",2100,2,"1.0"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605","Abnormality of the genitourinary system"]
["C1867332","Reticular Dystrophy Of Retinal Pigment Epithelium",2097,2,"1.0"]
["C4310680","RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES",2097,2,"1.0"]
["C0220730","Fryns syndrome",2092,2,"1.0"]
["C3279775","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1",2092,2,"1.0"]
["C4015172","SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",2088,2,"1.0"]
["C4310776","RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS",2088,2,"1.0"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863"]
["C2678415","Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency",2087,2,"0.9936009327432678"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0"]
["C3150833","OCCULT MACULAR DYSTROPHY",2086,2,"1.0"]
["C1328339","Dennie-Morgan fold",2084,2,"1.0"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0"]
["C3151206","LEBER CONGENITAL AMAUROSIS 15",2082,2,"1.0"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0"]
["C4539873","MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",2080,2,"1.0"]
["C1321780","Hypomagnesmic tetany",2079,2,"0.9996802237891713"]
["C1865974","Hypomagnesemia 1, Intestinal",2079,2,"0.9996802261627306"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0"]
["C0521839","Influenza-like illness",2076,2,"1.0"]
["C3809543","CILIARY DYSKINESIA, PRIMARY, 22",2076,2,"1.0"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0"]
["C3810405","POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",2075,2,"1.0"]
["C1861821","CATARACT, MARNER TYPE",2074,2,"0.9822017501741636","Abnormality of the eye"]
["C3888417","CATARACT 5, MULTIPLE TYPES",2074,2,"0.9829326225666419"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0"]
["C4479651","RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA",2073,2,"1.0"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605"]
["C4084821","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",2070,2,"1.0"]
["C4225400","INTERSTITIAL LUNG AND LIVER DISEASE",2070,2,"1.0"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0"]
["C4305134","Fried syndrome",2067,2,"1.0"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0"]
["C4015349","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",2065,2,"1.0"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0"]
["C3807521","AMYOTROPHIC LATERAL SCLEROSIS 21",2064,2,"1.0"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0"]
["C1968603","Osteopetrosis, Autosomal Recessive 5",2062,2,"1.0"]
["C0700323","Observation of Neuromuscular Block",2060,2,"0.6894349436942794"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501"]
["C0028734","Nocturia",2058,2,"1.0","Abnormality of the genitourinary system"]
["C0342687","dopamine beta hydroxylase deficiency",2058,2,"1.0"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017"]
["C3809845","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",2056,2,"0.3516426861351214"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764"]
["C3553816","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",2053,2,"1.0"]
["C4521563","SPINOCEREBELLAR ATAXIA 44",2053,2,"1.0"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0"]
["C4225361","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29",2050,2,"1.0"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0"]
["C3280965","CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",2049,2,"1.0"]
["C3280036","MECKEL SYNDROME, TYPE 10",2048,2,"1.0"]
["C4539386","JOUBERT SYNDROME 34",2048,2,"1.0"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0"]
["C3552634","LYMPHOPROLIFERATIVE SYNDROME 1",2046,2,"1.0"]
["C0175696","Congenital cleft larynx and Opitz-Frias syndrome",2045,2,"0.999716883875141"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812"]
["C0263532","Leukonychia punctata",2043,2,"1.0"]
["C3276977","LEUKONYCHIA STRIATUS",2043,2,"1.0"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0"]
["C4015261","POLYENDOCRINE-POLYNEUROPATHY SYNDROME",2038,2,"1.0"]
["C4539881","DEAFNESS, AUTOSOMAL DOMINANT 71",2038,2,"1.0"]
["C3836857","MECKEL SYNDROME, TYPE 8",2037,2,"1.0"]
["C4084841","JOUBERT SYNDROME 24",2037,2,"1.0"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0"]
["C0019693","HIV Infections",2033,2,"0.9449935927616423"]
["C4505456","HIV Coinfection",2033,2,"0.947367065095419"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0"]
["C4284594","BAND HETEROTOPIA",2032,2,"1.0"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918","Abnormality of the nervous system"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695"]
["C1291316","Deficiency of reductase",2021,2,"1.0"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0"]
["C4225321","ZIMMERMANN-LABAND SYNDROME 2",2018,2,"1.0"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193"]
["C0342792","Succinyl-CoA:3-oxoacid CoA transferase deficiency",2016,2,"1.0"]
["C1291422","Deficiency of 3-oxoacid CoA-transferase",2016,2,"1.0"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0"]
["C3151880","NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)",2012,2,"1.0"]
["C1858535","MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)",2011,2,"1.0"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0"]
["C0270857","Epilepsy, Reflex",2009,2,"0.9990926425026795"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0"]
["C3280644","LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",2008,2,"1.0"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652"]
["C0451669","Neuropathy in association with hereditary ataxia",2005,2,"1.0"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0"]
["C1291564","Deficiency of aromatic-L-amino-acid decarboxylase",2004,2,"1.0"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0","Abnormality of the cardiovascular system"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0"]
["C0008029","Cherubism",1999,2,"0.9995212723671753"]
["C0549122","Relative afferent pupillary defect",1999,2,"0.9995212584625025"]
["C3541319","SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",1998,2,"1.0"]
["C3809651","INFANTILE LIVER FAILURE SYNDROME 2",1998,2,"1.0"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728"]
["C1641852","Gelatinous droplike corneal dystrophy",1996,2,"0.9983711423594059"]
["C1862871","ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",1994,2,"0.8825437542729301"]
["C2745963","Kashin-Beck Disease",1994,2,"0.847930898647363"]
["C3281066","USHER SYNDROME, TYPE IIIB",1993,2,"1.0"]
["C4225265","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",1993,2,"1.0"]
["C0085635","Photopsia",1992,2,"1.0","Abnormality of the eye"]
["C4479481","RETINITIS PIGMENTOSA 78",1992,2,"1.0"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0"]
["C2931095","Osteogenesis imperfecta, type 7",1991,2,"1.0"]
["C4310779","SPERMATOGENIC FAILURE 15",1990,2,"1.0"]
["C4310782","PREMATURE OVARIAN FAILURE 12",1990,2,"1.0"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0"]
["C4275023","Spinocerebellar ataxia type 10",1989,2,"1.0"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074"]
["C4310658","MYOCLONUS, INTRACTABLE, NEONATAL",1985,2,"0.9930484671440507"]
["C0029408","Degenerative polyarthritis",1984,2,"0.9148291528771603","Abnormality of the skeletal system"]
["C0086743","Osteoarthrosis Deformans",1984,2,"0.9189154714954368"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544","Abnormality of the integument"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582"]
["C3281192","INFANTILE CEREBELLAR-RETINAL DEGENERATION",1981,2,"1.0"]
["C4225384","OPTIC ATROPHY 9",1981,2,"1.0"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0"]
["C3808166","MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT",1979,2,"1.0"]
["C0272173","Myelokathexis",1978,2,"0.9869468725933866"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0"]
["C3150808","RETINITIS PIGMENTOSA 55",1977,2,"1.0"]
["C4310675","ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",1975,2,"1.0"]
["C4316985","Cerebellar edema",1975,2,"1.0"]
["C4225177","SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1",1973,2,"1.0"]
["C4310736","MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",1973,2,"1.0"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452","Abnormality of head or neck"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452","Abnormality of the integument"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238"]
["C0809936","Branchio-skeleto-genital syndrome",1971,2,"1.0"]
["C0877521","Chronic synovitis",1971,2,"1.0"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232"]
["C2931141","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency",1970,2,"0.993735939153861"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153"]
["C3553645","MYASTHENIC SYNDROME, CONGENITAL, 13",1969,2,"0.9552197774138775"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0"]
["C3150899","PARKINSON DISEASE 5, AUTOSOMAL DOMINANT",1967,2,"1.0"]
["C3809665","SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",1967,2,"1.0"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0"]
["C4310697","FRONTOMETAPHYSEAL DYSPLASIA 2",1966,2,"1.0"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0"]
["C1847667","CARDIOMYOPATHY, DILATED, 1L",1963,2,"1.0"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965"]
["C3892050","DEAFNESS, AUTOSOMAL RECESSIVE 102",1960,2,"0.9805792872846669"]
["C4022756","Profound hearing impairment",1960,2,"0.9758431221748454","Abnormality of the ear"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824"]
["C0149696","Food intolerance (disorder)",1958,2,"0.9600138021889058","Abnormality of metabolism/homeostasis"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418"]
["C0023890","Liver Cirrhosis",1957,2,"0.8876806404745305","Abnormality of the digestive system"]
["C0239946","Fibrosis, Liver",1957,2,"0.8920036166681832","Abnormality of the digestive system"]
["C3553230","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",1956,2,"0.952300868513004"]
["C3809160","SHAHEEN SYNDROME",1956,2,"0.9517879856932137"]
["C0034951","Refractive Errors",1954,2,"0.6804215250225317"]
["C1527310","Ametropia",1954,2,"0.5606393009725587"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818"]
["C3469542","FANCONI ANEMIA, COMPLEMENTATION GROUP P",1953,2,"0.45072110575490854"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231"]
["C1824925","DEAFNESS, AUTOSOMAL RECESSIVE 70",1951,2,"0.960444629476515"]
["C3554129","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13",1951,2,"0.9597183910999514"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093"]
["C4015597","MYASTHENIC SYNDROME, CONGENITAL, 14",1950,2,"0.9351499839718267"]
["C3550904","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36",1949,2,"0.9992390690722684"]
["C4317295","Congenital disorder of glycosylation type 1s",1949,2,"0.9992388540617094"]
["C0027612","Congenital, Hereditary, and Neonatal Diseases and Abnormalities",1947,2,"0.9986497212960793"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0"]
["C0006111","Brain Diseases",1945,2,"0.8224639816105657"]
["C0085584","Encephalopathies",1945,2,"0.8326211128565733","Abnormality of the nervous system"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0"]
["C1866257","Peroxisome Biogenesis Disorder, Complementation Group K",1938,2,"1.0"]
["C3554004","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)",1938,2,"1.0"]
["C4083048","SPONDYLOCOSTAL DYSOSTOSIS 5",1934,2,"0.8079663270928997"]
["C4274761","Autosomal dominant spondylocostal dysostosis",1934,2,"0.8335519858943492"]
["C1852521","Spondylocostal Dysostosis 4, Autosomal Dominant",1932,2,"0.380214281887591"]
["C3150942","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",1932,2,"0.3203474161409904"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0"]
["C4015371","MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT",1930,2,"1.0"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885"]
["C4020911","Herpetiform corneal ulceration",1923,2,"0.7744797493416075","Abnormality of the eye"]
["C3150705","FOXG1 syndrome",1921,2,"1.0"]
["C4305240","14q12 microdeletion syndrome",1921,2,"1.0"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546"]
["C3554349","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",1920,2,"0.4019411527173876"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844"]
["C1969644","Cataract, Cortical, Juvenile-Onset",1918,2,"1.0"]
["C3808107","CATARACT 33, MULTIPLE TYPES",1918,2,"1.0"]
["C0016037","Fibrodysplasia Ossificans Progressiva",1917,2,"0.937027148580973"]
["C0027122","Myositis Ossificans",1917,2,"0.9541993806119232"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556"]
["C3280556","PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",1916,2,"0.9486011868150879"]
["C3554168","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14",1915,2,"0.9594478719131199"]
["C4310750","SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",1915,2,"0.9595564828919343"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272"]
["C4024779","Marginal corneal dystrophy",1914,2,"0.9997988212639636","Abnormality of the eye"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0"]
["C4225281","RETINITIS PIGMENTOSA 74",1912,2,"1.0"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0"]
["C3151107","RETINITIS PIGMENTOSA 40 (disorder)",1911,2,"1.0"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0"]
["C3150715","RETINITIS PIGMENTOSA 51",1910,2,"1.0"]
["C1855305","Ter Haar syndrome",1908,2,"1.0"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0"]
["C3151781","CK SYNDROME",1904,2,"1.0"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0"]
["C4225329","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25",1899,2,"1.0"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0"]
["C4225345","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",1896,2,"1.0"]
["C0221237","Angular cheilitis",1894,2,"1.0","Abnormality of head or neck"]
["C4225381","PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",1894,2,"1.0"]
["C1272352","Deficiency of vitamin D3",1891,2,"0.4400455048729931"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0"]
["C0342728","3-Methylglutaconic aciduria type 1",1889,2,"1.0"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521"]
["C2751811","Spermatogenic Failure 7",1887,2,"0.4389480052211166"]
["C4225337","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33",1886,2,"1.0"]
["C4225343","MENTAL RETARDATION, AUTOSOMAL DOMINANT 38",1886,2,"1.0"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0"]
["C0085399","Ehrlichiosis",1883,2,"1.0"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0"]
["C1319860","Sendai virus infection",1882,2,"0.5513291578680211"]
["C1558931","Flu-Like Syndrome Adverse Event",1882,2,"0.6429747773225882"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0"]
["C4274732","Ischio-vertebral syndrome",1878,2,"1.0"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901","Abnormality of head or neck"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901","Neoplasm"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594","Abnormality of the genitourinary system"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692","Abnormality of the cardiovascular system"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155","Abnormality of the cardiovascular system"]
["C3280452","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",1873,2,"1.0"]
["C4015519","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",1873,2,"1.0"]
["C0398564","Deficiency of adenylate kinase",1870,2,"1.0"]
["C2675459","Adenylate Kinase Deficiency, Hemolytic Anemia Due To",1870,2,"1.0"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0"]
["C1861101","THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT",1865,2,"1.0"]
["C0020097","HTLV-I Infections",1864,2,"0.5241517128506971"]
["C1260874","Infective dermatitis",1864,2,"0.6616355314469539"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238"]
["C2732267","Auditory neuropathy spectrum disorder",1862,2,"0.902617382239077"]
["C1704436","Peripheral Arterial Diseases",1860,2,"0.38424296801974117","Abnormality of the cardiovascular system"]
["C4304539","20p12.3 microdeletion syndrome",1860,2,"0.3390729342062795"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517","Abnormality of the genitourinary system"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141","Abnormality of the genitourinary system"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663","Abnormality of the genitourinary system"]
["C3809824","PARKINSON DISEASE 20, EARLY-ONSET",1849,2,"1.0"]
["C4479313","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53",1849,2,"1.0"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0"]
["C3151056","SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",1843,2,"0.8432220061304524"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993"]
["C0268464","Transient hyperphenylalaninemia",1839,2,"0.3363570533779135","Abnormality of metabolism/homeostasis"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402"]
["C3151355","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A",1836,2,"1.0"]
["C3151356","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION",1836,2,"1.0"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0"]
["C3151461","LISSENCEPHALY 4",1835,2,"1.0"]
["C1857342","Deafness, Cochlear, with Myopia and Intellectual Impairment",1834,2,"1.0"]
["C3806275","DEAFNESS AND MYOPIA",1834,2,"1.0"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934"]
["C0155728","Other specified transient cerebral ischemias",1832,2,"0.9204860580043087"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138","Abnormality of metabolism/homeostasis"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","Abnormality of the genitourinary system"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063","Abnormality of metabolism/homeostasis"]
["C2675186","LEBER CONGENITAL AMAUROSIS 13",1828,2,"0.9844482350661028"]
["C3150208","RETINITIS PIGMENTOSA 53",1828,2,"0.9844174981586188"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616"]
["C0155567","Rheumatic aortic stenosis",1824,2,"0.5919890323990766"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741"]
["C0400966","Non-alcoholic Fatty Liver Disease",1822,2,"0.9651929936931013"]
["C3241937","Nonalcoholic Steatohepatitis",1822,2,"0.966623355139347"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716"]
["C0348932","Other specified diabetes mellitus with unspecified complications",1818,2,"0.8854110834335897"]
["C3532239","Mitochondrial cardiomyopathy",1816,2,"1.0"]
["C4310690","MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)",1816,2,"1.0"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0"]
["C3714897","SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",1813,2,"1.0"]
["C3539920","ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1812,2,"0.9971926212392787"]
["C3541517","ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",1812,2,"0.9973417841950787"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985","Abnormality of the integument"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246"]
["C3554687","IL21R IMMUNODEFICIENCY",1808,2,"1.0"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0","Abnormality of the immune system"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0","Abnormality of the digestive system"]
["C3809356","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",1807,2,"1.0"]
["C3809369","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2",1807,2,"1.0"]
["C3275508","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",1805,2,"1.0"]
["C3806670","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1",1805,2,"1.0"]
["C0018824","Heart valve disease",1800,2,"0.468320665397619","Abnormality of the cardiovascular system"]
["C0263628","Tumoral calcinosis",1800,2,"0.48046789900471765"]
["C0599973","Waardenburg Anophthalmia Syndrome",1799,2,"0.9351312529556339"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709"]
["C0559469","Allergy to eggs",1798,2,"1.0"]
["C4015316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",1798,2,"1.0"]
["C3501647","Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",1797,2,"1.0"]
["C4025283","Compensated hemolytic anemia",1797,2,"1.0","Abnormality of blood and blood-forming tissues"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413"]
["C2316810","Chronic kidney disease stage 5",1794,2,"0.5745825559846915","Abnormality of the genitourinary system"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937","Abnormality of the nervous system"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937","Abnormality of the cardiovascular system"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","Abnormality of the nervous system"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","Abnormality of the cardiovascular system"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431","Abnormality of the respiratory system"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431","Abnormality of the immune system"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573"]
["C0035305","Retinal Detachment",1787,2,"0.6122910704788862","Abnormality of the eye"]
["C0339546","Retinal Pigment Epithelial Detachment",1787,2,"0.6155897910275362"]
["C0494559","Diseases of inner ear",1786,2,"1.0"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616"]
["C3550903","CORNELIA DE LANGE SYNDROME 5",1785,2,"0.29742385892933076"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267"]
["C3151752","NYSTAGMUS 6, CONGENITAL, X-LINKED",1782,2,"0.9779609451758826"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336","Abnormality of metabolism/homeostasis"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402"]
["C1848651","Al Awadi syndrome",1778,2,"1.0"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0"]
["C1867923","Posterior column ataxia",1776,2,"1.0"]
["C0432328","Xeroderma pigmentosum, variant form",1773,2,"1.0"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0"]
["C0152915","Acute miliary tuberculosis",1772,2,"1.0"]
["C4013949","IMMUNODEFICIENCY 30",1772,2,"1.0"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0"]
["C4284088","MIRAGE SYNDROME",1770,2,"1.0"]
["C0021831","Intestinal Diseases",1769,2,"0.16045635888817433","Abnormality of the digestive system"]
["C0041582","Ulcer",1769,2,"0.30176868286225256"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853"]
["C0267557","Secretory diarrhea",1766,2,"0.5275118889809377","Abnormality of the digestive system"]
["C2678346","Diarrhea 3, Secretory Sodium, Congenital, Syndromic",1766,2,"0.6741573365128385"]
["C0013363","Dysautonomia",1764,2,"0.6671654799032101","Abnormality of the nervous system"]
["C1145628","Autonomic nervous system disorders",1764,2,"0.3421901059201606","Abnormality of the nervous system"]
["C0009782","Connective Tissue Diseases",1763,2,"0.5214293159438249"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129"]
["C1860405","Snowflake vitreoretinal degeneration",1762,2,"0.9991353388790598","Abnormality of the eye"]
["C3280062","LEBER CONGENITAL AMAUROSIS 16",1762,2,"0.9991355169469426"]
["C0021843","Intestinal Obstruction",1759,2,"0.4246850904909229","Abnormality of the digestive system"]
["C1859047","CYSTIC FIBROSIS MODIFIER 1",1759,2,"0.5371449152882891"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971"]
["C0005806","Blood Group Incompatibility",1757,2,"0.8117784679370667"]
["C0860218","ABO incompatibility",1757,2,"0.800208731510822"]
["C0010474","Curling Ulcer",1756,2,"0.9221385845809931"]
["C0013295","Duodenal Ulcer",1756,2,"0.9243479921850533","Abnormality of the digestive system"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483"]
["C0026650","Movement Disorders",1754,2,"0.8255199927423146","Abnormality of the nervous system"]
["C0266487","Etat Marbre",1754,2,"0.8114893949278197"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886","Abnormality of head or neck"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886","Abnormality of the nervous system"]
["C2930898","Benign essential blepharospasm",1749,2,"0.6380295298670042"]
["C3150801","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",1744,2,"0.9405416247051087"]
["C3539506","SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",1744,2,"0.9400269311959818"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0"]
["C1409412","Periostosis",1741,2,"1.0","Abnormality of the skeletal system"]
["C3280800","HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",1741,2,"1.0"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099"]
["C4539985","CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",1738,2,"0.9881727607209994"]
["C0235222","Diastolic hypertension",1737,2,"0.324754344661128"]
["C1837739","Hypertension, Diastolic, Resistance to",1737,2,"0.5843464757410313"]
["C0393933","Pseudomyopathic myasthenia",1734,2,"1.0"]
["C3552335","MYASTHENIC SYNDROME, CONGENITAL, 12",1734,2,"1.0"]
["C0014867","Esophageal Varices",1733,2,"0.6350096126274755","Abnormality of the digestive system"]
["C0017145","Gastric Varix",1733,2,"0.6760817366349227","Abnormality of the digestive system"]
["C0149821","ACUTE ALCOHOL WITHDRAWAL",1731,2,"0.6741994823480865"]
["C3554691","HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2",1731,2,"0.6653230555327193"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","Abnormality of the ear"]
["C0039128","Syphilis",1727,2,"0.375610952098552"]
["C4310772","NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",1727,2,"0.32760471436713395"]
["C1969639","Cardiomyopathy, Dilated, 1w",1725,2,"1.0"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0"]
["C0948441","Venoocclusive disease",1724,2,"0.2574309206206856"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532"]
["C0270921","Axonal neuropathy",1720,2,"0.9135486148895609","Abnormality of the nervous system"]
["C1263857","Peripheral axonal neuropathy",1720,2,"0.9132666940481179","Abnormality of the nervous system"]
["C3810175","SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",1719,2,"0.9962600971483832"]
["C4225342","RETINITIS PIGMENTOSA 71",1719,2,"0.9962491437281913"]
["C0265245","Nager syndrome",1718,2,"1.0"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712"]
["C2752072","Cardiomyopathy, Dilated, 1BB",1714,2,"0.9959411723834988"]
["C0162830","Dermatitis, Phototoxic",1711,2,"1.0"]
["C1527358","Phototoxicity",1711,2,"1.0"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035","Abnormality of metabolism/homeostasis"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011","Abnormality of metabolism/homeostasis"]
["C1838656","Macrocytosis, Familial",1704,2,"1.0"]
["C4015537","THROMBOCYTOPENIA 5",1704,2,"1.0"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","Abnormality of head or neck"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","Abnormality of the eye"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","Abnormality of the immune system"]
["C0339063","Cellulitis of eyelid",1695,2,"0.9999999999999978"]
["C0238044","Concentric hypertrophic cardiomyopathy",1693,2,"0.5837644351220689","Abnormality of the cardiovascular system"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0"]
["C4225313","BETHLEM MYOPATHY 2",1690,2,"1.0"]
["C4225314","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2",1690,2,"1.0"]
["C0948245","Cytokine release syndrome",1689,2,"1.0"]
["C3150738","Antibody Deficiency due to Defect in CD19",1689,2,"1.0"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988"]
["C4024972","Symmetrical progressive peripheral demyelination",1687,2,"0.9893212140445037","Abnormality of the nervous system"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0"]
["C2748055","Hypoinsulinaemia (disorder)",1682,2,"1.0","Abnormality of the endocrine system"]
["C4015710","TENORIO SYNDROME",1682,2,"1.0"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0"]
["C1840284","LEBER CONGENITAL AMAUROSIS 11",1679,2,"1.0"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526"]
["C0342770","Fumarase deficiency",1677,2,"1.0"]
["C2936826","Fumaric aciduria",1677,2,"1.0"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0"]
["C1533587","Hydroxymethylglutaric aciduria",1674,2,"1.0"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","Abnormality of the genitourinary system"]
["C3554520","UROFACIAL SYNDROME 2",1671,2,"0.4159675632417093"]
["C1866259","Peroxisome Biogenesis Disorder, Complementation Group 13",1670,2,"0.7716336185757453"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262"]
["C3554000","PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)",1669,2,"0.9012942939516393"]
["C3554001","PEROXISOME BIOGENESIS DISORDER 11B",1669,2,"0.8016209522598845"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661"]
["C4275170","Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1",1668,2,"0.9167319571695101"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0"]
["C4310824","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",1666,2,"1.0"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","Abnormality of the genitourinary system"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","Abnormality of the immune system"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807"]
["C1858679","CATARACT, AUTOSOMAL DOMINANT",1658,2,"0.9880133262157748"]
["C3888098","Cataract, Autosomal Recessive Congenital 1",1658,2,"0.98816940786915"]
["C0342778","Ubiquinone dehydrogenase deficiency",1655,2,"0.8598979150097114"]
["C1852372","MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)",1655,2,"0.8806601599968179"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366"]
["C3554127","ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",1654,2,"0.5632680307570415"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","Abnormality of the immune system"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759"]
["C0748140","Multiple pulmonary infections",1650,2,"0.9706120916814711"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891","Abnormality of the respiratory system"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891","Abnormality of the immune system"]
["C0022638","Ketosis",1647,2,"0.9934333057638904","Abnormality of metabolism/homeostasis"]
["C0235430","Ketonemia",1647,2,"0.9934126622468727","Abnormality of metabolism/homeostasis"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674"]
["C0221005","Mauriac\\'s syndrome",1645,2,"0.8881871104799041"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086"]
["C3150754","GLYCOGEN STORAGE DISEASE XV",1643,2,"1.0"]
["C4015452","POLYGLUCOSAN BODY MYOPATHY 2",1643,2,"1.0"]
["C0008370","Cholestasis",1641,2,"0.5438031918208762","Abnormality of the digestive system"]
["C1112213","Cholestasis in newborn",1641,2,"0.4534190889884303"]
["C0035869","Rotavirus Infections",1637,2,"0.2095573791608353"]
["C0267446","Acute gastroenteritis",1637,2,"0.42568256794379544"]
["C0268152","Classical galactosemia, homozygous Duarte-type",1636,2,"1.0"]
["C3278146","GALACTOSEMIA, DUARTE VARIANT",1636,2,"1.0"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687"]
["C3150618","Maturity-onset diabetes of the young, type 11",1628,2,"0.32880966290534697"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","Abnormality of the skeletal system"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","Abnormality of the immune system"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737","Abnormality of the immune system"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737","Abnormality of the digestive system"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0"]
["C3152083","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",1624,2,"1.0"]
["C1845408","Contiguous Abcd1-Dxs1375e Deletion Syndrome",1623,2,"0.8377425196350115"]
["C3806634","DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",1623,2,"0.8860174567657735"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774"]
["C0034069","Pulmonary Fibrosis",1621,2,"0.8183503591523228","Abnormality of the respiratory system"]
["C0085786","Hamman-Rich syndrome",1621,2,"0.7686256632017731"]
["C0241984","Honeycomb lung",1620,2,"0.878243287721025"]
["C1800706","Idiopathic Pulmonary Fibrosis",1620,2,"0.8686501159010562"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803","Abnormality of the nervous system"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803","Abnormality of metabolism/homeostasis"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577","Abnormality of the nervous system"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577","Abnormality of metabolism/homeostasis"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463"]
["C3553637","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",1617,2,"0.4448050821973686"]
["C0272242","Complement deficiency disease",1616,2,"0.05908131845707539","Abnormality of the immune system"]
["C1864694","Complement Component 7 Deficiency",1616,2,"0.3791243296303916"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456"]
["C3872560","Acute vascular graft rejection",1614,2,"0.9995880480031659"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541"]
["C3463897","HYDATIDIFORM MOLE, RECURRENT, 1",1613,2,"0.737995914660835"]
["C3502073","Woolly Hair, Autosomal Recessive",1611,2,"0.9824197758040908"]
["C4225214","WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",1611,2,"0.9839865392557181"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732","Abnormality of metabolism/homeostasis"]
["C0001125","Acidosis, Lactic",1608,2,"0.164081161727295","Abnormality of metabolism/homeostasis"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","Abnormality of the nervous system"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384","Abnormality of the voice"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293"]
["C3553358","COENZYME Q10 DEFICIENCY, PRIMARY, 3",1602,2,"0.37791205537038886"]
["C3553374","COENZYME Q10 DEFICIENCY, PRIMARY, 5",1602,2,"0.3554669543959837"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592"]
["C1861106","Thyrotropin-Releasing Hormone Resistance, Generalized",1589,2,"1.0"]
["C4511136","Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency",1589,2,"1.0"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603"]
["C4082174","Thyrotropin deficiency, isolated",1588,2,"0.9986728115370451"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165"]
["C4280575","Progressive brain disease",1586,2,"0.09162557557979803","Abnormality of the nervous system"]
["C3151188","NEPHRONOPHTHISIS 9",1583,2,"1.0"]
["C3809434","RENAL-HEPATIC-PANCREATIC DYSPLASIA 2",1583,2,"1.0"]
["C3554235","JOUBERT SYNDROME 20",1580,2,"1.0"]
["C3809352","MECKEL SYNDROME, TYPE 11",1580,2,"1.0"]
["C3539071","NEPHRONOPHTHISIS 14",1579,2,"1.0"]
["C3553846","JOUBERT SYNDROME 19",1579,2,"1.0"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0"]
["C4225424","OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY",1573,2,"1.0"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0"]
["C4015555","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9",1572,2,"1.0"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0"]
["C1863557","Young Simpson syndrome",1571,2,"1.0"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317"]
["C0220687","KBG syndrome",1565,2,"1.0"]
["C4304594","16q24.3 microdeletion syndrome",1565,2,"1.0"]
["C0271907","Acquired aplastic anemia",1564,2,"0.2741952790412705"]
["C0744855","hepatitis immune",1564,2,"0.3134045287442611"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123"]
["C3809536","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS",1560,2,"0.4825095762737312"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118","Abnormality of metabolism/homeostasis"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671","Abnormality of the genitourinary system"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671","Abnormality of metabolism/homeostasis"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0"]
["C4310742","COLD-INDUCED SWEATING SYNDROME 3",1553,2,"1.0"]
["C0242994","Hantavirus Infections",1550,2,"0.3457132766276379"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0"]
["C3280220","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",1548,2,"1.0"]
["C2675188","Kallmann Syndrome 6",1547,2,"1.0"]
["C3552574","HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA",1547,2,"1.0"]
["C1857720","KALLMANN SYNDROME 4 (disorder)",1546,2,"1.0"]
["C3552343","HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA",1546,2,"1.0"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0"]
["C3888124","CATARACT 17, MULTIPLE TYPES",1545,2,"1.0"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0"]
["C0023240","Legionellosis",1541,2,"1.0"]
["C3809001","CATARACT 15, MULTIPLE TYPES",1541,2,"1.0"]
["C0392557","Nuclear cataract",1539,2,"0.9728213294750262","Abnormality of the eye"]
["C1112705","Nuclear non-senile cataract",1539,2,"0.9730895139831194"]
["C1861828","Cataract, Zonular Pulverulent 1",1538,2,"0.9995307914643872"]
["C1866984","Sclerocornea, Autosomal Dominant",1538,2,"0.9995339311877735"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0"]
["C3151402","CANDIDIASIS, FAMILIAL, 5",1535,2,"1.0"]
["C4310803","IMMUNODEFICIENCY 51",1535,2,"1.0"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703","Abnormality of the integument"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703","Abnormality of the immune system"]
["C0007971","Cheilitis",1533,2,"0.39024983625431026","Abnormality of head or neck"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117","Abnormality of blood and blood-forming tissues"]
["C2873787","Deficiency of factor X [Stuart-Prower]",1531,2,"0.9823409279708865"]
["C0026267","Mitral Valve Prolapse Syndrome",1530,2,"0.15666223115234226","Abnormality of the cardiovascular system"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843"]
["C0024117","Chronic Obstructive Airway Disease",1529,2,"0.6912310300548151","Abnormality of the respiratory system"]
["C1527303","Chronic Airflow Obstruction",1529,2,"0.7003753972171192"]
["C0151559","Central nervous system depression (disorder)",1527,2,"0.596908233595892"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763"]
["C0392702","Abnormal involuntary movement",1526,2,"1.0"]
["C1860861","TREMOR, HEREDITARY ESSENTIAL, 1",1526,2,"1.0"]
["C0018801","Heart failure",1523,2,"0.966996233275587","Abnormality of the cardiovascular system"]
["C0018802","Congestive heart failure",1523,2,"0.9664922736405422","Abnormality of the cardiovascular system"]
["C0272167","Reticular dysgenesis",1521,2,"1.0"]
["C1282908","De Vaal\\'s syndrome",1521,2,"1.0"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557"]
["C4310692","ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",1518,2,"0.9349076696179686"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563"]
["C2749929","Musician\\'s Dystonia",1515,2,"0.6946182617384036"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","Neoplasm"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","Abnormality of the digestive system"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454"]
["C0877221","Decreased erythroid precursor production",1511,2,"1.0"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314","Abnormality of the immune system"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314","Abnormality of the digestive system"]
["C0149519","Chronic Persistent Hepatitis",1508,2,"0.8262575274558098"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856","Abnormality of the immune system"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856","Abnormality of the digestive system"]
["C0524611","Cryptogenic Chronic Hepatitis",1507,2,"0.6128263576684341"]
["C0235812","Vitritis",1506,2,"0.5514805143348978","Abnormality of the eye"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152"]
["C0003864","Arthritis",1503,2,"0.3662407056719722","Abnormality of the skeletal system"]
["C0162323","Polyarthritis",1503,2,"0.2836236717604402","Abnormality of the skeletal system"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638","Abnormality of the skeletal system"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638","Abnormality of limbs"]
["C0235840","Neonatal diarrhea",1500,2,"0.9999999999999984"]
["C0495452","Noninfective neonatal diarrhea",1500,2,"0.9999999999999984"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808"]
["C4275062","Intestinal epithelial dysplasia",1499,2,"0.9992593093388547"]
["C0006266","Bronchial Spasm",1498,2,"1.0"]
["C1837371","Sudden Infant Death with Dysgenesis of the Testes Syndrome",1498,2,"1.0"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","Abnormality of the genitourinary system"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","Abnormality of the immune system"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584"]
["C3266102","Steroid resistant nephrotic syndrome of childhood",1495,2,"0.6802326706319196"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666"]
["C1271398","Pigment dispersion syndrome (disorder)",1492,2,"0.6484561206792332"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812"]
["C0008350","Cholelithiasis",1491,2,"0.49590903592182917","Abnormality of the digestive system"]
["C0947622","Cholecystolithiasis",1491,2,"0.405946169327562"]
["C0268532","Deficiency of prolidase",1486,2,"1.0"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0","Abnormality of the integument"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0","Abnormality of the immune system"]
["C0016977","Gall Bladder Diseases",1483,2,"0.33339552239079984"]
["C3275124","Biliary System Disorder",1483,2,"0.4843113020635257"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443"]
["C0494491","Mononeuropathies",1476,2,"0.8486055939681488","Abnormality of the nervous system"]
["C4225318","EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",1476,2,"0.8576804381377912"]
["C0398788","Immunodeficiency syndrome, variable",1474,2,"1.0"]
["C0494266","Other specified immunodeficiencies",1474,2,"1.0"]
["C0241423","Atrophy of tongue",1472,2,"0.06702470554463351","Abnormality of head or neck"]
["C3472711","Spinocerebellar ataxia 36",1472,2,"0.33752033883368693"]
["C0221260","Dystrophia unguium",1471,2,"0.3446832338711288","Abnormality of the integument"]
["C1834405","Nail dysplasia",1471,2,"0.370343242850545","Abnormality of the integument"]
["C1853205","Glycosylphosphatidylinositol deficiency",1470,2,"0.44828598636543987"]
["C4014958","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5",1470,2,"0.38532317021966167"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897","Abnormality of the endocrine system"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897","Abnormality of the immune system"]
["C0040558","Toxoplasmosis",1469,2,"0.5598850919242668"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591"]
["C0543669","Neutrophilia, Hereditary",1466,2,"1.0"]
["C4310764","NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",1466,2,"1.0"]
["C3280155","MECKEL SYNDROME, TYPE 9",1463,2,"1.0"]
["C4310706","JOUBERT SYNDROME 27",1463,2,"1.0"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0","Abnormality of head or neck"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0","Abnormality of the skeletal system"]
["C0268425","Alstrom Syndrome",1462,2,"1.0"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0"]
["C4310694","MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",1461,2,"1.0"]
["C2986691","Inherited bone marrow failure syndrome",1458,2,"0.9380677966232861"]
["C4310744","BONE MARROW FAILURE SYNDROME 3",1458,2,"0.9364712329965857"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031"]
["C4012727","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",1455,2,"0.6612955252399989"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106","Abnormality of the nervous system"]
["C4014738","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2",1454,2,"0.6672655055693232"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0"]
["C1863224","Adenosine Triphosphate, Elevated, Of Erythrocytes",1449,2,"1.0"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135"]
["C4225347","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4",1444,2,"1.0"]
["C4225356","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",1444,2,"1.0"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0"]
["C3553758","JOUBERT SYNDROME 18",1443,2,"1.0"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0"]
["C3281235","BARAITSER-WINTER SYNDROME 2",1442,2,"1.0"]
["C1846331","Juvenile-onset dystonia",1441,2,"1.0"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0"]
["C0029429","Osteochondrosis",1440,2,"0.8069608419822124","Abnormality of the skeletal system"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964"]
["C3809454","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",1437,2,"1.0"]
["C4225398","CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY",1437,2,"1.0"]
["C3280526","ARTHROGRYPOSIS, DISTAL, TYPE 1B",1436,2,"0.9249505911485285"]
["C3554046","LETHAL CONGENITAL CONTRACTURE SYNDROME 4",1436,2,"0.9314737620755409"]
["C0014335","Enteritis",1434,2,"0.9879426557371656"]
["C2677093","Inflammatory Bowel Disease 16",1434,2,"0.9879025609714773"]
["C0151718","Hypocholesterolemia",1433,2,"0.33012678812714935","Abnormality of metabolism/homeostasis"]
["C1863551","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3",1433,2,"0.19665291281432154"]
["C1335029","Non-Neoplastic Peripheral Nervous System Disorder",1430,2,"0.5023225742943741"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443"]
["C1291312","Deficiency of oxidase",1429,2,"0.3943931652889704"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","Abnormality of the cardiovascular system"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","Abnormality of the respiratory system"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833","Abnormality of the genitourinary system"]
["C0268634","Disorder of fatty acid metabolism",1421,2,"0.4142135623730946"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736"]
["C0235831","Renal Cell Dysplasia",1419,2,"0.9997021305126301"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974"]
["C1827377","Slow acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8526657136218124"]
["C1827820","Fast acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8345100102085748"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0"]
["C0086457","Industrial Dermatosis",1416,2,"1.0"]
["C0026780","Mumps",1414,2,"1.0"]
["C1562585","Leprosy, Multibacillary",1414,2,"1.0"]
["C2674705","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",1413,2,"1.0"]
["C4310752","DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS",1413,2,"1.0"]
["C0271379","Convergence Insufficiency",1412,2,"1.0","Abnormality of the eye"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967"]
["C0429468","Anovulatory (finding)",1406,2,"0.47168332213328373"]
["C1960447","Hypergonadotropic amenorrhea",1406,2,"0.7173063832417884"]
["C0272175","Immune neutropenia",1404,2,"0.6026267298452191"]
["C0272176","Alloimmune neonatal neutropenia",1404,2,"0.15755240005121957"]
["C0033770","Prune Belly Syndrome",1402,2,"1.0","Abnormality of the digestive system"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262"]
["C3553060","EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",1400,2,"0.9200732965020476"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155","Abnormality of the immune system"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537"]
["C0031115","Peripheral angiopathy in diseases classified elsewhere",1394,2,"0.6809517019828334"]
["C0750151","Vaso-Occlusive Crisis",1394,2,"0.7025588374726794"]
["C3808899","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4",1393,2,"0.9435324364824292"]
["C4015062","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22",1393,2,"0.9438218026003791"]
["C2700431","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE",1392,2,"1.0"]
["C3276276","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",1392,2,"1.0"]
["C0162835","Hypopigmentation disorder",1390,2,"0.2647585969412623","Abnormality of the integument"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0"]
["C1837893","SCHIZOPHRENIA 12",1384,2,"1.0"]
["C0011876","Diabetic cataract",1383,2,"0.6845916832455673"]
["C1514284","Potassium Deficiency Disorder",1383,2,"0.6915367632325774"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654"]
["C0752100","Autosomal Recessive Parkinsonism",1379,2,"0.27047966988755523"]
["C0752105","Parkinsonism, Juvenile",1379,2,"0.42568383807760807"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0"]
["C3553656","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB",1373,2,"1.0"]
["C0003257","Antibody Deficiency Syndrome",1372,2,"0.590638217785264"]
["C0021051","Immunologic Deficiency Syndromes",1372,2,"0.6290146726113154","Abnormality of the immune system"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496","Abnormality of the nervous system"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496","Abnormality of the immune system"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838"]
["C1611706","Myosclerosis",1367,2,"1.0"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0"]
["C2937300","Congenital hereditary muscular dystrophy",1366,2,"1.0"]
["C4225336","DYSTONIA 27",1366,2,"1.0"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167","Abnormality of head or neck"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167","Abnormality of the skeletal system"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167","Abnormality of the immune system"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806","Abnormality of head or neck"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806","Abnormality of the skeletal system"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806","Abnormality of the immune system"]
["C0006271","Bronchiolitis",1352,2,"0.3312540847342675","Abnormality of the respiratory system"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398"]
["C0796081","Myhre syndrome",1346,2,"1.0"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516"]
["C0268414","Hyperphosphatasemia with bone disease",1342,2,"0.8634178441561433"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621","Abnormality of metabolism/homeostasis"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167"]
["C0040896","Trichinellosis",1338,2,"0.9676544328470965"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109"]
["C0042847","Vitamin B 12 Deficiency",1337,2,"0.400561110536149","Abnormality of metabolism/homeostasis"]
["C3553915","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",1337,2,"0.5571722360340035"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973","Abnormality of the nervous system"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973","Abnormality of the musculature"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289"]
["C4303860","Craniofacial ulnar renal syndrome",1333,2,"0.7276725189747749"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726"]
["C0036305","Schamberg Disease",1331,2,"1.0"]
["C0549567","Pigmentation Disorders",1331,2,"1.0"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974","Abnormality of the ear"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974","Abnormality of the immune system"]
["C0743359","Chronic ear infection",1330,2,"0.9999999999999974"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623","Abnormality of the skeletal system"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623","Abnormality of the immune system"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898","Abnormality of the skeletal system"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898","Abnormality of the immune system"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","Abnormality of head or neck"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","Abnormality of the skeletal system"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675","Abnormality of the immune system"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","Abnormality of head or neck"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","Abnormality of the skeletal system"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","Abnormality of the immune system"]
["C3809872","PERIVENTRICULAR NODULAR HETEROTOPIA 6",1325,2,"1.0"]
["C4304514","6q terminal deletion syndrome",1325,2,"1.0"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819"]
["C3280041","RETINITIS PIGMENTOSA 61",1318,2,"0.8064481575566744"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191","Abnormality of the integument"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191","Abnormality of the immune system"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369","Abnormality of the integument"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369","Abnormality of the immune system"]
["C3806917","CRANIOSYNOSTOSIS 4",1314,2,"1.0"]
["C4310679","CHITAYAT SYNDROME",1314,2,"1.0"]
["C0085577","Normocytic anemia",1313,2,"0.43670068381445454","Abnormality of blood and blood-forming tissues"]
["C0235983","Normochromic anemia",1313,2,"0.43670068381445454","Abnormality of blood and blood-forming tissues"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657"]
["C4025020","Acute hepatic steatosis",1311,2,"0.6189166498244726","Abnormality of the digestive system"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0"]
["C4014557","MYOPATHY, TUBULAR AGGREGATE, 2",1308,2,"1.0"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0"]
["C0348460","Other hyperaldosteronism",1303,2,"0.18878692946233366"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137"]
["C0740898","Hypokalemic metabolic alkalosis",1302,2,"0.45535063513060364","Abnormality of metabolism/homeostasis"]
["C1859844","LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)",1300,2,"1.0"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0"]
["C0152443","Urethral diverticulum",1297,2,"1.0","Abnormality of the genitourinary system"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592"]
["C3281289","TRICHOHEPATOENTERIC SYNDROME 2",1295,2,"0.5484954582860951"]
["C1859312","CAMFAK syndrome",1292,2,"1.0"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0"]
["C0020241","Hydroa Vacciniforme",1291,2,"0.9691996983110974"]
["C1833561","UV-Sensitive Syndrome",1291,2,"0.9663567408071206"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0"]
["C3810012","RIENHOFF SYNDROME",1286,2,"1.0"]
["C1842124","BRANCHIOOTIC SYNDROME 3 (disorder)",1285,2,"1.0"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0"]
["C1833691","Otofaciocervical Syndrome",1284,2,"0.9999999999999992"]
["C2931416","Fara Chlupackova syndrome",1284,2,"0.9999999999999992"]
["C1260894","Hypertrophic obesity",1282,2,"1.0"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831"]
["C0017155","Gastritis, Hypertrophic",1278,2,"0.6518707927038697","Abnormality of the digestive system"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222","Abnormality of the cardiovascular system"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","Abnormality of the nervous system"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","Abnormality of the cardiovascular system"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947"]
["C0000809","Abortion, Habitual",1274,2,"0.45258826509498923"]
["C0004509","Azoospermia",1274,2,"0.17912247405891452","Abnormality of the genitourinary system"]
["C0025281","Meniere Disease",1272,2,"0.5143358249322583"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086"]
["C0235574","Intravascular hemolysis",1267,2,"0.9827146256296009"]
["C0312854","Extravascular Hemolysis",1267,2,"0.9830977683208306"]
["C0024473","Magnesium Deficiency",1264,2,"0.8519725714103367"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","Abnormality of the genitourinary system"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572","Abnormality of metabolism/homeostasis"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061"]
["C4225425","ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",1261,2,"0.6681844956895604"]
["C4274077","Autosomal recessive sideroblastic anemia",1261,2,"0.14426450077914602"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376"]
["C3150672","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",1255,2,"0.8228974361357007"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721","Abnormality of the immune system"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721","Abnormality of the digestive system"]
["C4020697","Giant cell hepatitis on liver biopsy",1254,2,"0.9674837487832815"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529"]
["C4304526","5q35 microduplication syndrome",1250,2,"0.8034306746759059"]
["C0432261","Osteopetrosis - intermediate type",1247,2,"0.7944092834839236"]
["C1969093","Osteopetrosis, Autosomal Recessive 6",1247,2,"0.85206035659522"]
["C1850126","Osteopetrosis, mild autosomal recessive form",1245,2,"0.8524958902742232"]
["C4025318","Chronic rhinitis due to narrow nasal airway",1245,2,"0.890626014422713","Abnormality of head or neck"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038","Abnormality of the eye"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106","Abnormality of the eye"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106","Abnormality of the nervous system"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0","Abnormality of the nervous system"]
["C3714760","Drug-induced tardive dyskinesia",1242,2,"1.0"]
["C0276501","Human immunodeficiency virus II infection",1241,2,"0.11505819125095162"]
["C1832097","EPIDERMAL DIFFERENTIATION COMPLEX",1241,2,"0.12157183903492909"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493"]
["C4225378","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY",1239,2,"1.0"]
["C4540355","JOUBERT SYNDROME 31",1239,2,"1.0"]
["C4225252","IMMUNODEFICIENCY 45",1237,2,"0.7883097787584327"]
["C4225260","IMMUNODEFICIENCY 44",1237,2,"0.7751681058336038"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0"]
["C3280845","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",1234,2,"1.0"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996"]
["C0687120","Nephronophthisis",1231,2,"0.3691188545802995","Abnormality of the genitourinary system"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486","Abnormality of the genitourinary system"]
["C3887499","Renal cyst",1229,2,"0.47156372814058795","Abnormality of the genitourinary system"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0"]
["C0265215","Meckel-Gruber syndrome",1225,2,"0.3836049514725714"]
["C1853235","Sclerocornea",1225,2,"0.5256736191656237","Abnormality of the eye"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648","Abnormality of the eye"]
["C3150874","CRANIOECTODERMAL DYSPLASIA 2",1219,2,"0.9603897250236316"]
["C3279792","SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY",1219,2,"0.9599874819609588"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0"]
["C4012268","TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",1216,2,"1.0"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901"]
["C0265354","CHARGE Syndrome",1214,2,"0.9191471251905701"]
["C2936502","Familial CHARGE Syndrome",1214,2,"0.9003052600390744"]
["C2675302","KALLMANN SYNDROME 5 (disorder)",1213,2,"1.0"]
["C3552553","HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA",1213,2,"1.0"]
["C1970440","CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)",1212,2,"1.0"]
["C4225231","TOOTH AGENESIS, SELECTIVE, 7",1212,2,"1.0"]
["C2910126","Patent or persistent ostium secundum defect (type II)",1209,2,"1.0"]
["C2910127","Patent or persistent sinus venosus defect",1209,2,"1.0"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266"]
["C3280679","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",1202,2,"1.0"]
["C3541476","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",1202,2,"1.0"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","Abnormality of the eye"]
["C3489704","Vision Disability",1200,2,"0.897731631073227"]
["C1843315","Neuronopathy, Distal Hereditary Motor, Type Viib",1197,2,"0.9960557128089368"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0"]
["C1849695","Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency",1191,2,"1.0"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168","Abnormality of the nervous system"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168","Abnormality of the musculature"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658","Abnormality of the nervous system"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658","Abnormality of the musculature"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692"]
["C0266427","Testicular regression syndrome",1179,2,"1.0","Abnormality of the genitourinary system"]
["C4510744","46,XY partial gonadal dysgenesis",1179,2,"1.0"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0"]
["C3280797","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",1174,2,"1.0"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","Abnormality of the genitourinary system"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","Abnormality of metabolism/homeostasis"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098"]
["C0268613","Disorder of sulfur-bearing amino acid metabolism",1164,2,"0.8385223249579978"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066"]
["C0521857","Increased drug resistance",1162,2,"1.0"]
["C4540293","IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",1162,2,"1.0"]
["C0007196","Restrictive cardiomyopathy",1159,2,"0.4540983319334666","Abnormality of the cardiovascular system"]
["C0348616","Other restrictive cardiomyopathy",1159,2,"0.7425494796420091"]
["C0342543","Central Precocious Puberty",1158,2,"0.25321663309340026"]
["C0342544","Idiopathic central precocious puberty",1158,2,"0.5940290300661761"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0","Abnormality of metabolism/homeostasis"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278","Abnormality of the eye"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278","Abnormality of the immune system"]
["C0264413","Late onset asthma",1153,2,"0.8130589681681095"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728"]
["C4275024","Spinocerebellar ataxia type 8",1149,2,"0.6578129948411049"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021","Abnormality of the genitourinary system"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","Abnormality of the integument"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","Abnormality of the immune system"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265"]
["C0033817","Pseudomonas Infections",1136,2,"0.9736862246271955"]
["C0854135","Pseudomonas aeruginosa infection",1136,2,"0.970674399737973"]
["C0021847","Intestinal Pseudo-Obstruction",1124,2,"0.40317560541625125","Abnormality of the digestive system"]
["C0030446","Paralytic Ileus",1124,2,"0.5217970390924583","Abnormality of the digestive system"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0"]
["C3280342","STICKLER SYNDROME, TYPE V",1101,2,"1.0"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684"]
["C3711376","Isodicentric Chromosome 15 Syndrome",1097,2,"0.4164850544134028"]
["C4310712","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43",1097,2,"0.1761085741518913"]
["C3810313","DOWLING-DEGOS DISEASE 4",1096,2,"1.0"]
["C4310660","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",1096,2,"1.0"]
["C1865295","Auriculo-condylar syndrome",1095,2,"0.22596025311926737"]
["C3553404","AURICULOCONDYLAR SYNDROME 2",1095,2,"0.5800479358559968"]
["C2677338","Cardiomyopathy, Dilated, 1AA",1091,2,"1.0"]
["C4225403","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",1091,2,"1.0"]
["C0343055","Generalized pustular psoriasis",1089,2,"0.573505897743746"]
["C0392439","Acrodermatitis continua of Hallopeau",1089,2,"0.6034108222593161"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0"]
["C0008489","Chorea",1087,2,"0.5817541337085892","Abnormality of the nervous system"]
["C4020858","Choreatic disease",1087,2,"0.797168543895444"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281"]
["C1863062","Episodic quadriplegia",1079,2,"0.5435616645304149","Abnormality of the nervous system"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745"]
["C3809606","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",1072,2,"0.8631453698009163"]
["C4479569","NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS",1072,2,"0.8886491791176292"]
["C0020617","Hypoglycemic coma",1067,2,"0.2767185585329721","Abnormality of the nervous system"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485","Abnormality of the nervous system"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485","Abnormality of metabolism/homeostasis"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177","Abnormality of the endocrine system"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177","Abnormality of metabolism/homeostasis"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217"]
["C3150617","Maturity-onset diabetes of the young, type 10",1065,2,"0.9507603149588209"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348"]
["C1865290","Hyperinsulinemic hypoglycemia, familial, 3",1063,2,"0.8545320016886053"]
["C1960469","Left ventricular noncompaction",1058,2,"0.5811015942894953","Abnormality of the cardiovascular system"]
["C4021133","Left ventricular noncompaction cardiomyopathy",1058,2,"0.5235726950831312","Abnormality of the cardiovascular system"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","Abnormality of metabolism/homeostasis"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159"]
["C4304505","8p11.2 deletion syndrome",1051,2,"0.8662695367980746"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565"]
["C1138434","Genetic Diseases, X-Linked",1045,2,"0.9979955756181758"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258"]
["C0343386","Clostridium difficile infection",1044,2,"0.9744737905593374"]
["C1411966","Clostridium"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0"]
["C2955673","Urate nephropathy",1043,2,"1.0"]
["C0393706","Early infantile epileptic encephalopathy with suppression bursts",1042,2,"0.15288439742569668"]
["C2677326","Epileptic Encephalopathy, Early Infantile, 4",1042,2,"0.18722178804574632"]
["C0159020","Convulsions in the newborn",1034,2,"0.3782057960325707"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0","Abnormality of head or neck"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0","Abnormality of the integument"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0","Abnormality of connective tissue"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444","Abnormality of the respiratory system"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396","Abnormality of the respiratory system"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204"]
["C1857627","Chorioretinal dystrophy",1018,2,"0.2991993329525742","Abnormality of the eye"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102","Abnormality of head or neck"]
["C4021592","Unilateral primary pulmonary dysgenesis",1017,2,"0.5543990106061871","Abnormality of the respiratory system"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984","Abnormality of the integument"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984","Abnormality of the immune system"]
["C3806554","Dysseborrheic dermatitis",1015,2,"0.9999999999999984"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0"]
["C4015019","NEU-LAXOVA SYNDROME 2",1009,2,"1.0"]
["C1859709","Kuskokwim disease",1007,2,"1.0"]
["C3151218","OSTEOGENESIS IMPERFECTA, TYPE XI",1007,2,"1.0"]
["C0012754","Distemper",1005,2,"1.0"]
["C3150807","ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",1005,2,"1.0"]
["C0263449","Perioral Dermatitis",1004,2,"0.918465657485471","Abnormality of head or neck"]
["C3714948","PACHYONYCHIA CONGENITA 3",1004,2,"0.9199167778120383"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0"]
["C0311338","Fundus Albipunctatus",1000,2,"0.9505547627879886","Abnormality of the eye"]
["C1405854","Retinitis punctata albescens (disorder)",1000,2,"0.9385325537583171"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0"]
["C3539888","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",997,2,"1.0"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774"]
["C4014414","MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",992,2,"0.7739230884715675"]
["C4310683","DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",992,2,"0.8463529097363073"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0"]
["C4225280","NOONAN SYNDROME 10",991,2,"1.0"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0"]
["C4014795","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",989,2,"1.0"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292"]
["C2750074","Rhabdoid Tumor Predisposition Syndrome 2",987,2,"0.7495043829608568"]
["C3553249","COFFIN-SIRIS SYNDROME 4",987,2,"0.47691184087043675"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","Abnormality of the nervous system"]
["C0559506","Neonatal unconjugated hyperbilirubinemia",980,2,"0.9629535304817508","Abnormality of metabolism/homeostasis"]
["C0268199","Familial apolipoprotein C-II deficiency",979,2,"0.8627265902538743"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627"]
["C0221252","Eruptive xanthoma",976,2,"0.427639577192762","Abnormality of the integument"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307","Abnormality of the eye"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307","Abnormality of the cardiovascular system"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656"]
["C3151853","MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE",973,2,"0.9819746152502863"]
["C0017605","Angle Closure Glaucoma",970,2,"0.7049276108717428"]
["C0017606","Primary angle-closure glaucoma",970,2,"0.6557167140677719","Abnormality of the eye"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0"]
["C1837552","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",966,2,"1.0"]
["C3554428","OSTEOGENESIS IMPERFECTA, TYPE XIV",964,2,"0.654748724664011"]
["C3808844","OSTEOGENESIS IMPERFECTA, TYPE XV",964,2,"0.6333018672635082"]
["C1847640","KUFOR-RAKEB SYNDROME",962,2,"1.0"]
["C4310662","SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",962,2,"1.0"]
["C0863106","Afebrile seizure",957,2,"0.3731672679933728"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069"]
["C0339652","Vertical gaze palsy",955,2,"0.9999999999999996","Abnormality of the eye"]
["C1843369","Vertical supranuclear gaze palsy",955,2,"0.9999999999999996","Abnormality of the eye"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0"]
["C2231324","Brucellosis, Pulmonary",954,2,"1.0"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827"]
["C0156344","Endometriosis of ovary",946,2,"0.4491920550752994"]
["C3809250","ESTROGEN RESISTANCE",946,2,"0.6067590309594577"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078","Abnormality of the genitourinary system"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078","Abnormality of metabolism/homeostasis"]
["C3888081","L-2-hydroxyglutaric acidemia",943,2,"0.993142425952035","Abnormality of metabolism/homeostasis"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193"]
["C2936859","N syndrome",939,2,"0.9958996947077335"]
["C0796275","Brunner Syndrome",935,2,"1.0"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489"]
["C2608083","Cholestasis, benign recurrent intrahepatic 2",932,2,"0.9994309680168438"]
["C3489789","Cholestasis, Progressive Familial Intrahepatic, 2",932,2,"0.9994311095138338"]
["C3549845","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",931,2,"1.0"]
["C4025019","Intrahepatic cholestasis with episodic jaundice",931,2,"1.0","Abnormality of the digestive system"]
["C0745744","End Stage Liver Disease",928,2,"0.9250287157626629"]
["C2936476","Chronic Liver Failure",928,2,"0.9279305560035096","Abnormality of the digestive system"]
["C3275685","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2",927,2,"1.0"]
["C3275686","CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY",927,2,"1.0"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188","Abnormality of blood and blood-forming tissues"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188","Abnormality of the immune system"]
["C0014458","Eosinophilia, Tropical",919,2,"0.6779891694267985"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872"]
["C3888212","SECKEL SYNDROME 4",911,2,"0.4686864890208793"]
["C3553582","SECKEL SYNDROME 6",910,2,"0.8360149084189106"]
["C3891452","SECKEL SYNDROME 8",910,2,"0.8086943833531022"]
["C0007930","Chagas Cardiomyopathy",909,2,"0.7229817457473199"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364"]
["C3277076","BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",901,2,"0.9772185373047375"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0"]
["C4225248","SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",898,2,"1.0"]
["C0796221","MENTAL RETARDATION, X-LINKED 15",890,2,"0.9946567719011925"]
["C3887959","MENTAL RETARDATION, X-LINKED 49",890,2,"0.9952526709315459"]
["C1835928","CARDIOMYOPATHY, DILATED, 1P",889,2,"0.9937171881860674"]
["C3151265","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",889,2,"0.9938162969982599"]
["C0920646","Ischemia of kidney",888,2,"0.23747759747484204"]
["C0920715","Myocardial hypoxia",888,2,"0.18202164255493047"]
["C0031030","Periapical Periodontitis",887,2,"0.40992645799122546"]
["C0524686","Periodontitis, Acute Nonsuppurative",887,2,"0.2635987595030968"]
["C3150344","HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",884,2,"0.5966922944141666"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","Abnormality of the genitourinary system"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","Abnormality of metabolism/homeostasis"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127"]
["C3280976","Thrombophilia due to Thrombomodulin Defect",879,2,"0.6083443841351104"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0"]
["C3553944","USHER SYNDROME, TYPE IJ",877,2,"1.0"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0"]
["C1860157","Elejalde Disease",872,2,"1.0"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568"]
["C4049342","Foot osteomyelitis",870,2,"0.693176807610238"]
["C0405578","Gigantism and acromegaly",867,2,"1.0"]
["C4521132","ACROMEGALY DUE TO PITUITARY ADENOMA 1",867,2,"1.0"]
["C2676439","USHER SYNDROME, TYPE IIB, FORMERLY",866,2,"0.9999999999999983"]
["C3148929","USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",866,2,"0.9999999999999983"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106"]
["C0040127","Thyroid Crisis",856,2,"0.5493164845774884","Abnormality of the endocrine system"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921","Abnormality of the nervous system"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921","Abnormality of the endocrine system"]
["C4023211","Adrenocorticotropin deficient adrenal insufficiency",854,2,"0.32252306691722366","Abnormality of the endocrine system"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384","Abnormality of the nervous system"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384","Abnormality of the endocrine system"]
["C4014425","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",853,2,"1.0"]
["C4016748","CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC",853,2,"1.0"]
["C3539003","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",849,2,"0.7320508075688765"]
["C3809470","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",849,2,"0.8472422208337105"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0"]
["C2751309","Achromatopsia 5",847,2,"1.0"]
["C2680446","SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",846,2,"1.0"]
["C3280371","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4",846,2,"1.0"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0"]
["C3164344","Adult onset autosomal dominant leukodystrophy",840,2,"1.0"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0"]
["C1867326","RETINAL CONE DYSTROPHY 1",838,2,"1.0"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0"]
["C4014831","VESICOURETERAL REFLUX 8",837,2,"1.0"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0"]
["C3151293","CARDIOMYOPATHY, DILATED, 1HH",834,2,"1.0"]
["C0023308","Lens Diseases",831,2,"0.3716897644346344","Abnormality of the eye"]
["C1854065","LATE-ONSET RETINAL DEGENERATION (disorder)",831,2,"0.618030620635236"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277","Abnormality of the skeletal system"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277","Abnormality of limbs"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743","Abnormality of the skeletal system"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743","Abnormality of limbs"]
["C0677659","Gastro-esophageal reflux disease with esophagitis",819,2,"0.5747628024909952"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0"]
["C0270853","Juvenile Myoclonic Epilepsy",805,2,"0.8183164185537508"]
["C0393676","Panayiotopoulos Syndrome",805,2,"0.773773876807001"]
["C3544092","Urgency frequency syndrome",804,2,"0.9983310779247285"]
["C4020898","Overactive bladder syndrome",804,2,"0.99833219605315","Abnormality of the genitourinary system"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0"]
["C0206526","Tuberculosis, Multidrug-Resistant",801,2,"0.5857143019959369"]
["C2959467","Tuberculous pleural effusion",801,2,"0.6220428423581812"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0"]
["C3151440","PITUITARY HORMONE DEFICIENCY, COMBINED, 6",797,2,"1.0"]
["C3150819","RETINITIS PIGMENTOSA 56",796,2,"0.839130207283061"]
["C4015343","MACULAR DYSTROPHY, VITELLIFORM, 5",796,2,"0.7058832043421653"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767"]
["C3151138","RETINITIS PIGMENTOSA 39 (disorder)",790,2,"0.9034325027409735"]
["C0393738","Chronic tension-type headache",787,2,"1.0"]
["C0522254","Analgesic Overuse Headache",787,2,"1.0"]
["C3554047","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",786,2,"1.0"]
["C4015671","LONG QT SYNDROME 14",786,2,"1.0"]
["C0030326","Panniculitis",781,2,"0.22850361610122386","Abnormality of the immune system"]
["C0030326","Panniculitis",781,2,"0.22850361610122386","Abnormality of connective tissue"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946","Abnormality of the cardiovascular system"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0"]
["C3810401","ATRIAL STANDSTILL 2",779,2,"1.0"]
["C0340489","Lone atrial fibrillation",775,2,"0.20797013810246612"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696","Abnormality of the nervous system"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836"]
["C3887654","POLYARTERITIS NODOSA, CHILDHOOD-ONSET",758,2,"0.9992679579442352"]
["C0220754","Biotinidase Deficiency",750,2,"1.0"]
["C1854698","Multiple Carboxylase Deficiency, Juvenile-Onset",750,2,"1.0"]
["C0014852","Esophageal Diseases",748,2,"0.6611022496549224"]
["C0085648","Synovial Cyst",748,2,"0.5884721565011979"]
["C0010398","Cruveilhier-Baumgarten Syndrome",747,2,"0.25302478234126086"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364","Abnormality of the cardiovascular system"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364","Abnormality of the digestive system"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471"]
["C4014700","ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",744,2,"0.9985938757440144"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956"]
["C0020473","Hyperlipidemia",741,2,"0.416870097433047","Abnormality of metabolism/homeostasis"]
["C0020476","Hyperlipoproteinemias",741,2,"0.5276146831771171","Abnormality of metabolism/homeostasis"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","Abnormality of the ear"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078"]
["C0205700","Asymmetric Septal Hypertrophy",732,2,"0.7739861564546344","Abnormality of the cardiovascular system"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151"]
["C1858763","Cardiomyopathy, Dilated, 1g",729,2,"0.9999999999997151"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0"]
["C1839413","Pyruvate Dehydrogenase E1 Alpha Deficiency",721,2,"1.0"]
["C0410445","Osteomalacia secondary to drug",712,2,"0.4864035305026815"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0"]
["C3150652","FANCONI RENOTUBULAR SYNDROME 2",711,2,"1.0"]
["C4310232","Hypercalcemia, Infantile, 1",710,2,"0.7669843524860251"]
["C4310473","Hypercalcemia, infantile, 2",710,2,"0.20583087736403713"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734","Abnormality of metabolism/homeostasis"]
["C0026141","Milk-Alkali Syndrome",709,2,"0.8043957909327021"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","Abnormality of the nervous system"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","Abnormality of the digestive system"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552"]
["C1863512","HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",704,2,"0.9884476400487494"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214","Abnormality of the cardiovascular system"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214","Abnormality of metabolism/homeostasis"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147"]
["C0006277","Bronchitis",700,2,"0.9938496747180657","Abnormality of the respiratory system"]
["C0149514","Acute bronchitis",700,2,"0.9938503080083153","Abnormality of the respiratory system"]
["C4014722","STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",699,2,"1.0"]
["C4040879","STING-associated vasculopathy with onset in infancy",699,2,"1.0"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292"]
["C3665704","Congenital reticular ichthyosiform erythroderma",698,2,"0.6975931161326213"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379"]
["C1862005","Epidermolytic Hyperkeratosis, Late-Onset",697,2,"0.8995467019257061"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711"]
["C0596992","myelinopathy",693,2,"0.7218266850127371"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178"]
["C3551756","NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT",692,2,"0.9615248209387778"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956"]
["C3553549","POROKERATOSIS 7, MULTIPLE TYPES",686,2,"0.5835054583215198"]
["C0011303","Demyelinating Diseases",685,2,"0.7752290377018304"]
["C2350037","Clinically Isolated Syndrome, CNS Demyelinating",685,2,"0.7423947339652351"]
["C0521736","Lower eyelid ectropion",676,2,"0.3445350331475028","Abnormality of head or neck"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465"]
["C0038826","Superinfection",672,2,"0.4660447112480546"]
["C0375021","Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",672,2,"0.5591932666714367"]
["C0024266","Lymphocytic Choriomeningitis",671,2,"0.7779065358730058"]
["C0153014","Non-arthropod borne lymphocytic choriomeningitis",671,2,"0.8001508084484671"]
["C0038362","Stomatitis",664,2,"0.8475133864211715","Abnormality of head or neck"]
["C0038362","Stomatitis",664,2,"0.8475133864211715","Abnormality of the immune system"]
["C1568868","Oral Mucositis",664,2,"0.8350957420433578"]
["C0271826","Iodide transport defect",663,2,"0.6882466465469741"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754","Abnormality of the endocrine system"]
["C4020805","Athyroidal hypothyroidism",661,2,"0.5241414839373812"]
["C0268193","NADH cytochrome B5 reductase deficiency",659,2,"0.4036750004034327"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162","Abnormality of blood and blood-forming tissues"]
["C0272320","Hereditary factor VII deficiency disease",655,2,"0.9809362143502084"]
["C0034734","Raynaud Disease",654,2,"0.9999999999999978"]
["C0034735","Raynaud Phenomenon",654,2,"0.9999999999999978","Abnormality of the cardiovascular system"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588"]
["C0008533","Hemophilia B",642,2,"0.966245300359561"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322","Abnormality of blood and blood-forming tissues"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","Abnormality of the eye"]
["C3810365","Central visual impairment",638,2,"0.9776886371551199"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479","Abnormality of the eye"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0"]
["C2751288","Neutropenia, Severe Congenital, Autosomal Dominant 2",634,2,"1.0"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328"]
["C4310751","SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",632,2,"0.8423192739130502"]
["C0154841","Central retinal vein occlusion",630,2,"1.0"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433","Abnormality of the eye"]
["C0155119","Recurrent erosion of cornea",629,2,"0.2650551126554656","Abnormality of the eye"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225","Abnormality of the integument"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225","Abnormality of the cardiovascular system"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225","Abnormality of blood and blood-forming tissues"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201","Abnormality of the immune system"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193"]
["C0155241","Lacrimal mucocele",621,2,"0.7862345793723479","Abnormality of head or neck"]
["C1867060","Lacrimal Puncta, Absence of",621,2,"0.6146774849779518","Abnormality of head or neck"]
["C0015302","External exotoses",618,2,"0.6444798448047331"]
["C0432282","Dysplasia epiphysealis hemimelica",618,2,"0.7963893485560049"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801","Abnormality of the eye"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291"]
["C0730290","Cone dystrophy",609,2,"0.8513923630406093","Abnormality of the eye"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072"]
["C2930971","Acroosteolysis dominant type",607,2,"0.9987308376921606"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782","Abnormality of head or neck"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782","Abnormality of the skeletal system"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009","Abnormality of the integument"]
["C0043345","Xeroderma",601,2,"0.1663235688718565"]
["C2930996","Muscular dystrophy, tardive Emery-Dreifuss type, with contractures",595,2,"1.0"]
["C4023180","Type 1 muscle fiber atrophy",595,2,"1.0","Abnormality of the musculature"]
["C3890205","Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative",591,2,"0.999653788395011"]
["C3898105","Oligoarticular Juvenile Idiopathic Arthritis",591,2,"0.9996546390765393"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663"]
["C0265345","Lymphedema distichiasis syndrome",583,2,"1.0"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0"]
["C4225315","RETINITIS PIGMENTOSA 72",581,2,"1.0"]
["C4225316","EXUDATIVE VITREORETINOPATHY 6",581,2,"1.0"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0"]
["C3151060","Macular Degeneration, Age-Related, 6",580,2,"1.0"]
["C0271093","Stargardt\\'s disease",574,2,"0.974571387466299"]
["C1855465","STARGARDT DISEASE 1 (disorder)",574,2,"0.9748124424696775"]
["C4021559","Retinitis pigmentosa inversa",573,2,"0.7487472823872741","Abnormality of the eye"]
["C4282180","Juvenile macular degeneration",573,2,"0.4479718180457302"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204","Abnormality of the eye"]
["C4020734","Nystagmus, continuous pendular",570,2,"0.6720572290839278"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085","Abnormality of the eye"]
["C3887980","COLORBLINDNESS, PARTIAL, PROTAN SERIES",568,2,"0.5912784469348508","Abnormality of the eye"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","Abnormality of the eye"]
["C0858618","Dyschromatopsia",567,2,"0.6626440512016597","Abnormality of the eye"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0","Abnormality of blood and blood-forming tissues"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0","Abnormality of metabolism/homeostasis"]
["C1856719","Kininogen Deficiency, Total",560,2,"1.0"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646"]
["C3151078","Complement Component C1s Deficiency",556,2,"1.0"]
["C4310681","EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",556,2,"1.0"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028"]
["C1960272","Latent autoimmune diabetes mellitus in adult",555,2,"0.5755643200635913"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0"]
["C4015214","CTLA4 Haploinsufficiency",554,2,"1.0"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0"]
["C3887639","Autoimmune gastritis",553,2,"1.0"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259"]
["C1843003","MITRAL VALVE PROLAPSE, MYXOMATOUS 2",550,2,"0.7745867661635375"]
["C3809875","VAN MALDERGEM SYNDROME 2",549,2,"1.0"]
["C4014939","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2",549,2,"1.0"]
["C3150898","CARDIOMYOPATHY, DILATED, 1GG",546,2,"1.0"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0"]
["C0270786","Binswanger Disease",545,2,"1.0"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","Abnormality of the eye"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","Abnormality of the cardiovascular system"]
["C4476521","Renal glomerular fibrosis",539,2,"0.5796800734151006"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438"]
["C0020550","Hyperthyroidism",533,2,"0.5310963689084658","Abnormality of the endocrine system"]
["C3714618","Primary Hyperthyroidism",533,2,"0.49638561391152536"]
["C0022593","Keratosis",532,2,"0.9765912444509646"]
["C0022594","Keratosis Blennorrhagica",532,2,"0.9810459660205855"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0"]
["C3553330","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",519,2,"0.9233168059257613"]
["C4015095","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",519,2,"0.9339192086255407"]
["C3808964","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",517,2,"0.9577822444510047"]
["C4015184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",517,2,"0.9623600204742797"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292"]
["C3150414","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6",516,2,"0.7046555751397945"]
["C0033626","Protein Deficiency",510,2,"0.6459081826906153"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158"]
["C3553720","CFHR5 DEFICIENCY",508,2,"0.6198948742524636"]
["C4055342","C3 Glomerulonephritis",508,2,"0.24228411941257433"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357","Abnormality of head or neck"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357","Abnormality of the immune system"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656","Abnormality of head or neck"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656","Abnormality of the immune system"]
["C3150215","CHROMOSOME 6q24-q25 DELETION SYNDROME",504,2,"1.0"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977"]
["C2609260","Caudal dysplasia syndrome",502,2,"0.4903697787021711"]
["C0236124","Gastrointestinal obstruction",501,2,"1.0","Abnormality of the digestive system"]
["C1867775","Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation",501,2,"1.0"]
["C2674127","LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)",497,2,"1.0"]
["C2931764","Furlong syndrome",497,2,"1.0"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0"]
["C3275356","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",492,2,"1.0"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158"]
["C3698541","Ohdo syndrome, Maat-Kievit-Brunner type",491,2,"0.9805706382908068"]
["C0271642","Fibrocalculous pancreatic diabetes",483,2,"0.8024504376285998"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229"]
["C0036130","Salpingitis",480,2,"1.0"]
["C0340238","Infectious disorder of bronchus",480,2,"1.0"]
["C3279947","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",478,2,"0.8876140883947304"]
["C3279974","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",478,2,"0.9213497530746388"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727","Abnormality of the respiratory system"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084"]
["C1842026","GLAUCOMA 1, OPEN ANGLE, E",472,2,"1.0"]
["C3150692","AMYOTROPHIC LATERAL SCLEROSIS 12",472,2,"1.0"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307","Abnormality of the eye"]
["C0423325","Ectropion uveae",468,2,"0.2931796476185303"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739"]
["C3854315","Pseudoprimary hyperaldosteronism",466,2,"0.6278966923236721"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731"]
["C0268360","Osteogenesis imperfecta, recessive perinatal lethal",462,2,"0.6800758704992528"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732","Abnormality of the integument"]
["C2930812","Generalized elastolysis",460,2,"0.6973716491077706"]
["C1394691","Bowel diverticula",456,2,"0.9999999999999993"]
["C1395674","Bowel diverticulosis",456,2,"0.9999999999999993","Abnormality of the digestive system"]
["C0003499","Supravalvular aortic stenosis",455,2,"0.6775986019638545","Abnormality of the cardiovascular system"]
["C1305147","Congenital supravalvular aortic stenosis",455,2,"0.6875930283334726"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965"]
["C3276539","CUTIS LAXA, AUTOSOMAL DOMINANT 1",454,2,"0.38907494172645524"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243"]
["C1856441","Late onset congenital glaucoma",446,2,"1.0","Abnormality of the eye"]
["C4310623","ANTERIOR SEGMENT DYSGENESIS 6",446,2,"1.0"]
["C1533041","Primary congenital glaucoma",443,2,"0.8045052695033835","Abnormality of the eye"]
["C1832977","GLAUCOMA 3, PRIMARY INFANTILE, B",443,2,"0.8418411033992419"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268"]
["C1856184","HEMIHYPERPLASIA, ISOLATED",441,2,"0.08434478187202335"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757","Abnormality of blood and blood-forming tissues"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757","Abnormality of the immune system"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005","Abnormality of the nervous system"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208","Abnormality of blood and blood-forming tissues"]
["C0240066","Iron deficiency",431,2,"0.1532600255712564"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172"]
["C1276127","Sporadic porphyria cutanea tarda",430,2,"0.5563569852247574"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419"]
["C0017086","Gangrene",426,2,"0.5899649644787076","Abnormality of metabolism/homeostasis"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649"]
["C3150958","Cardiomyopathy, Dilated, 1V",419,2,"0.8644843533259763"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219","Abnormality of the cardiovascular system"]
["C1841659","Atrioventricular nodal disease",418,2,"0.44628644725636907"]
["C1969115","GALLBLADDER DISEASE 4",417,2,"0.5070206533678672"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653"]
["C1848486","Premature arteriosclerosis",415,2,"0.9999999999999967","Abnormality of the cardiovascular system"]
["C4280503","Premature hardening of arteries",415,2,"0.9999999999999967"]
["C0342881","Familial hypercholesterolemia - homozygous",414,2,"0.9950686441998615"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504","Abnormality of the nervous system"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504","Abnormality of the cardiovascular system"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369"]
["C3150972","NEUROPATHY, HEREDITARY SENSORY, TYPE ID",413,2,"0.586520528858976"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0"]
["C4225412","Spondylo-ocular syndrome",410,2,"1.0"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775"]
["C0854145","Feeding Disorders",408,2,"0.6376287887875876"]
["C0015930","Fetal Distress",407,2,"0.45256406260740734"]
["C0033575","Prostatic Diseases",407,2,"0.27536877547810695"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894"]
["C0002897","Anemia, Splenic",403,2,"0.5425821165873709"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868","Abnormality of the immune system"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868","Abnormality of the digestive system"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253"]
["C0221262","Poliosis",402,2,"0.15104698983732226","Abnormality of the integument"]
["C0342680","Klein-Waardenberg\\'s syndrome",400,2,"1.0"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0"]
["C0079661","Klein\\'s Syndrome",399,2,"0.4695045680263902"]
["C1847800","Waardenburg Syndrome Type 1",399,2,"0.36030594134845584"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959"]
["C1863198","ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9720885679905467"]
["C0264955","Idiopathic arterial calcification of infancy",392,2,"0.8787091073698305"]
["C1859727","Arterial calcification of infancy",392,2,"0.7463705437855592"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011"]
["C4024631","Renal hypophosphatemia",390,2,"0.4754203404321968","Abnormality of metabolism/homeostasis"]
["C0518988","Dental abscess",389,2,"1.0","Abnormality of head or neck"]
["C1282952","Enthesitis",389,2,"1.0","Abnormality of connective tissue"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711","Abnormality of the genitourinary system"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711","Abnormality of metabolism/homeostasis"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986","Abnormality of the cardiovascular system"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986","Abnormality of the respiratory system"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924","Abnormality of the cardiovascular system"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924","Abnormality of the respiratory system"]
["C0340543","Familial primary pulmonary hypertension",384,2,"0.2731814749495957"]
["C1701939","Familial pulmonary arterial hypertension",384,2,"0.6003141436099456"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477","Abnormality of the cardiovascular system"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477","Abnormality of the respiratory system"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477","Neoplasm"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512","Abnormality of the cardiovascular system"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512","Abnormality of the respiratory system"]
["C3887658","PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",381,2,"0.9080891088792171"]
["C0432240","Stuve-Wiedemann dysplasia",379,2,"1.0"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849"]
["C0699741","Benign congenital myopathy",373,2,"0.9972372709231963"]
["C3668940","Dmd-Associated Dilated Cardiomyopathy",373,2,"0.9972120608689411"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865","Abnormality of metabolism/homeostasis"]
["C2827503","HFE-Associated Hereditary Hemochromatosis",370,2,"0.9134244775840457"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213"]
["C0271991","delta^0^ Thalassemia",369,2,"0.8883038961902984"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0"]
["C1849158","Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein",362,2,"1.0"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467"]
["C0342326","Tumor-induced hypoglycemia",359,2,"1.0"]
["C4225307","GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES",359,2,"1.0"]
["C0014742","Erythema Multiforme",358,2,"0.9947243149110956"]
["C3151085","MASP2 Deficiency",358,2,"0.9948802121872607"]
["C1847835","VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)",357,2,"0.9199535412388848"]
["C4479278","AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS",357,2,"0.9176241837195498"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581"]
["C4317320","Factor V deficiency",356,2,"0.4485430979187163"]
["C0393929","Familial infantile myasthenia",352,2,"1.0"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837","Abnormality of the integument"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837","Abnormality of the immune system"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209","Abnormality of the integument"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209","Abnormality of the immune system"]
["C1833693","Otodental Dysplasia",341,2,"1.0"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0"]
["C1840347","HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)",340,2,"1.0"]
["C3809243","HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",340,2,"1.0"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","Neoplasm"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","Abnormality of the digestive system"]
["C0271844","Parathyroid hyperplasia",338,2,"0.5993809292643847","Abnormality of the endocrine system"]
["C1840394","Parathyroid Adenomatosis, Familial Cystic",336,2,"1.0"]
["C1840403","Parathyroid Adenoma, Familial",336,2,"1.0"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0"]
["C4479229","HYPERPARATHYROIDISM 4",332,2,"1.0"]
["C3715128","HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",329,2,"0.9244236065313127"]
["C4048195","Autosomal dominant hypocalcemia",329,2,"0.9376584870455091"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896"]
["C0595948","Atypical absence seizure",328,2,"0.7938951754925483","Abnormality of the nervous system"]
["C2677078","Generalized Epilepsy With Febrile Seizures Plus, Type 6",321,2,"0.1388245210853384"]
["C2677079","Inflammatory Bowel Disease 19",321,2,"0.6789069553318091"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043"]
["C0391958","Familial Epilepsies",317,2,"1.0"]
["C1864987","Migraine, Familial Hemiplegic, 3",317,2,"1.0"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418"]
["C3150274","COMPLEMENT COMPONENT C1r/C1s DEFICIENCY",315,2,"0.8381970974099762"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0"]
["C0037769","West Syndrome",307,2,"0.470177921914013","Abnormality of the nervous system"]
["C3887898","Infantile Spasm",307,2,"0.5792649730881743","Abnormality of the nervous system"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","Abnormality of the endocrine system"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","Abnormality of the endocrine system"]
["C0342546","Premature adrenarche",304,2,"1.0","Abnormality of the endocrine system"]
["C4020713","Penile melanosis",304,2,"1.0"]
["C0003892","Neurogenic arthropathy",302,2,"0.4274246459299818","Abnormality of the skeletal system"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163","Abnormality of the respiratory system"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163","Abnormality of the immune system"]
["C3809882","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",298,2,"0.7749559668602081"]
["C3809899","EPISODIC PAIN SYNDROME, FAMILIAL, 3",298,2,"0.8911583170629884"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035"]
["C3151229","FEBRILE SEIZURES, FAMILIAL, 3B",296,2,"0.9715609139633676"]
["C0014805","Primary Erythermalgia",294,2,"1.0"]
["C1833661","PAROXYSMAL EXTREME PAIN DISORDER",294,2,"1.0"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996"]
["C0008733","Chylothorax",289,2,"0.7325683322546428","Abnormality of metabolism/homeostasis"]
["C0008733","Chylothorax",289,2,"0.7325683322546428","Abnormality of the respiratory system"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","Abnormality of the nervous system"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","Abnormality of the endocrine system"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318"]
["C2931803","Deletion 11p13",279,2,"0.9115534156796891"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469","Abnormality of the genitourinary system"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469","Abnormality of the endocrine system"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352","Abnormality of the genitourinary system"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352","Abnormality of the endocrine system"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0"]
["C3150773","CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME",273,2,"1.0"]
["C0751486","Reye-Like Syndrome",266,2,"1.0"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0"]
["C0036651","Senile lentigo",263,2,"0.9635667491119488","Abnormality of the integument"]
["C1328931","Multiple lentigines",263,2,"0.9568552516542852","Abnormality of the integument"]
["C1959635","Parvovirus B19 (disease)",258,2,"0.9999999999999987"]
["C2062441","Influenza A",258,2,"0.9999999999999987"]
["C0034089","Pulmonary Valve Stenosis",257,2,"0.6379953895721809"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583"]
["C2674723","RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER",254,2,"0.21217349147789383"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387"]
["C2931732","Familial Paget\\'s disease of bone",251,2,"0.9105113961730806"]
["C4085251","PAGET DISEASE OF BONE 2, EARLY-ONSET",251,2,"0.9453216217988855"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619"]
["C1867610","Macrocephaly mesodermal hamartoma spectrum",244,2,"1.0"]
["C3554519","COWDEN SYNDROME 6",244,2,"1.0"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0"]
["C4014479","CULLER-JONES SYNDROME",239,2,"1.0"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208"]
["C1112530","Leukoplakia of oral mucosa, incl tongue",235,2,"0.37552475762219273"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592"]
["C0264490","Acute respiratory failure",234,2,"0.26144710725229064"]
["C0376532","Epilepsy, Rolandic",231,2,"0.9863768331648847"]
["C2363129","Benign Rolandic Epilepsy",231,2,"0.9835612799265155"]
["C1264031","Alloimmune thrombocytopenia",229,2,"1.0"]
["C3280114","Glycoprotein IA Deficiency",229,2,"1.0"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567","Abnormality of the eye"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567","Abnormality of the cardiovascular system"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713"]
["C3463916","Complement Factor I (C3 inactivator) deficiency",227,2,"0.9993580970880713"]
["C3809523","MACULAR DEGENERATION, AGE-RELATED, 13",227,2,"0.999362695947115"]
["C1449646","Primary Peritonitis",225,2,"1.0"]
["C1449647","Secondary Peritonitis",225,2,"1.0"]
["C1404521","Limb-girdle myopathy",224,2,"1.0","Abnormality of the musculature"]
["C1404521","Limb-girdle myopathy",224,2,"1.0","Abnormality of limbs"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0","Abnormality of the musculature"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0","Abnormality of limbs"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568"]
["C0796206","Atkin syndrome",218,2,"1.0"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672","Abnormality of blood and blood-forming tissues"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854"]
["C0042875","Vitamin E Deficiency",202,2,"0.7260317392737631","Abnormality of metabolism/homeostasis"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042"]
["C0015544","Failure to Thrive",200,2,"0.8155779028014215"]
["C4539857","CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME",200,2,"0.8677287779857149"]
["C0746882","Chronic neutropenia",199,2,"0.4265838371316968"]
["C2931027","Neutropenia, severe chronic",199,2,"0.5920100690213788"]
["C0272199","Familial Hemophagocytic Lymphocytosis",197,2,"0.8777966363934008"]
["C0877564","Lymphohistiocytosis",197,2,"0.7536397048762788"]
["C0155686","Acute myocarditis",196,2,"0.999197085045493"]
["C1863727","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",196,2,"0.999197507327757"]
["C0393934","Slow channel syndrome",193,2,"1.0"]
["C0751950","Neuromuscular Junction Diseases",193,2,"1.0"]
["C0236811","Chronobiology Disorders",191,2,"0.9982707714617883"]
["C0813142","Circadian Rhythm Disorders",191,2,"0.9982724805137935"]
["C0036330","Schistosomiasis mansoni",179,2,"0.988763024335123"]
["C0242497","Intestinal schistosomiasis",179,2,"0.9886896464834624"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567"]
["C4023400","Generalized hypopigmentation of hair",170,2,"0.8741752036602615","Abnormality of the integument"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547"]
["C0024799","Marginal ulcer",167,2,"0.3288398176990978"]
["C0030920","Peptic Ulcer",167,2,"0.5447430931358818","Abnormality of the digestive system"]
["C0023364","Leptospirosis",165,2,"1.0"]
["C0043102","Weil Disease",165,2,"1.0"]
["C0014476","Eperythrozoonosis",162,2,"0.9763688333050579"]
["C0026936","Mycoplasma Infections",162,2,"0.9765910390406776"]
["C0009326","Collagen Diseases",161,2,"0.2197946581904022"]
["C0029883","Otitis Media with Effusion",161,2,"0.2197946581904022","Abnormality of the ear"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087","Abnormality of the endocrine system"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723","Abnormality of the endocrine system"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","Abnormality of the musculature"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","Abnormality of the digestive system"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366","Abnormality of blood and blood-forming tissues"]
["C3854603","FNAITP",153,2,"0.9015382542785494"]
["C0343206","Hypocomplementemic urticarial vasculitis",150,2,"0.7251035333722083"]
["C4023113","Small vessel vasculitis",150,2,"0.4802384476127429","Abnormality of the cardiovascular system"]
["C1384600","Systemic onset juvenile chronic arthritis",148,2,"0.37732833560863793"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482"]
["C0877445","Candidemia",147,2,"0.6222172173608798"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452"]
["C0006105","Brain Abscess",144,2,"0.993164548373027","Abnormality of the nervous system"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656","Abnormality of the integument"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656","Abnormality of the cardiovascular system"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656","Abnormality of the digestive system"]
["C0238157","Benign hematuria",139,2,"1.0"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618"]
["C0264657","Renal sclerosis with hypertension",136,2,"0.36556103101872844"]
["C0238305","Sickle cell nephropathy",135,2,"1.0"]
["C2749515","Collapsing glomerulopathy",135,2,"1.0"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573"]
["C0271737","Addison\\'s disease due to autoimmunity",127,2,"0.7301362487287018"]
["C2103602","Autoimmune Primary Adrenal Insufficiency",127,2,"0.7475607575035587"]
["C0409952","Idiopathic osteoarthritis",125,2,"0.4268252862938259"]
["C1384584","Generalized osteoarthritis",125,2,"0.35786274943789437"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","Abnormality of the nervous system"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889"]
["C1456246","Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site",122,2,"0.4649887553430743"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831"]
["C1970470","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)",117,2,"1.0"]
["C3711368","Surfactant Dysfunction",117,2,"1.0"]
["C1833487","Varicella, Severe Recurrent",115,2,"1.0","Abnormality of the immune system"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458"]
["C0038160","Staphylococcal Infections",109,2,"0.9748344539664633"]
["C1318973","Staphylococcus aureus infection",109,2,"0.9753952292699479"]
["C0014848","Esophageal Achalasia",107,2,"0.8953453362940573","Abnormality of the digestive system"]
["C0859976","Idiopathic achalasia of esophagus",107,2,"0.8959759896830298"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777","Abnormality of the nervous system"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0"]
["C0017677","Glossitis, Benign Migratory",101,2,"1.0"]
["C0342879","Primary hypercholesterolemia",92,2,"0.5072362079212815"]
["C0342880","Polygenic hypercholesterolemia",92,2,"0.47131209749419495"]
["C0221014","Reactive systemic amyloidosis",88,2,"0.8757721251653822"]
["C3536715","AA amyloidosis",88,2,"0.8195465827971186"]
["C0342611","Familial non-neuropathic amyloidosis",87,2,"0.9999999999999984"]
["C1719313","Hereditary amyloid nephropathy",87,2,"0.9999999999999984"]
["C1318520","Necrotizing vasculitis",81,2,"0.3452722686939388"]
["C4050407","Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis",81,2,"0.5754267412787729"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672"]
["C0276447","Rhinovirus infection",75,2,"0.5989059067265652"]
["C0860564","Retinoic acid syndrome",75,2,"0.10735026511308464"]
["C0006274","Bronchiolitis, Viral",74,2,"1.0"]
["C0343378","Helicobacter-associated gastritis",74,2,"1.0"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431"]
["C0340076","Asthmatic pulmonary eosinophilia",67,2,"0.9875146502406423"]
["C0008513","Chorioretinitis",58,2,"1.0","Abnormality of the eye"]
["C0271429","Acute otitis media",58,2,"1.0","Abnormality of the ear"]
["C0271429","Acute otitis media",58,2,"1.0","Abnormality of the immune system"]
["C0740451","Granulomatous disorder",56,2,"0.7227409402498903"]
["C1334228","Intestinal Graft Versus Host Disease",56,2,"0.582080753975764"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303"]
["C1449626","CADASILM",42,2,"0.9999999999999983"]
["C4024918","Recurrent subcortical infarcts",42,2,"0.9999999999999983","Abnormality of the nervous system"]
["C0598428","genetic hypertension",39,2,"0.10835372021513352"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508","Abnormality of the genitourinary system"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335","Abnormality of blood and blood-forming tissues"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591","Abnormality of the cardiovascular system"]
["C0268790","Renal vascular disorder",31,2,"0.9330123872994867"]
["C3810332","AURICULOCONDYLAR SYNDROME 3",31,2,"0.9296815872533594"]
["C0031039","Pericardial effusion",27,2,"0.6271121230469775","Abnormality of the cardiovascular system"]
["C0242426","Chylopericardium",27,2,"0.5052535960135892","Abnormality of the cardiovascular system"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984"]
["C0018814","Heart Rupture, Post-Infarction",24,2,"0.9859785298241688"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0"]
["C0852711","Sickle Cell Dactylitis",21,2,"1.0"]
["C0311370","Lupus anticoagulant disorder",17,2,"0.39169644528297426"]
["C2584409","Prothrombin G20210A mutation",17,2,"0.2175313471973938"]
["C0039103","Synovitis",13,2,"0.7609897081569665","Abnormality of the skeletal system"]
["C0410574","Synovial Hypertrophy",13,2,"0.7390675909001504","Abnormality of the skeletal system"]
["C2675767","EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",12,2,"1.0"]
["C3279941","STICKLER SYNDROME, TYPE IV",12,2,"1.0"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193"]
["C4021538","Mild neurosensory hearing impairment",10,2,"0.9210085775509319","Abnormality of the ear"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135"]
["C0687751","Acanthocytosis",1,2,"0.44297794826270537","Abnormality of blood and blood-forming tissues"]

{"sheet":"ICD","index":4,"n_rows":7285,"n_cols":6,"rows_kept":7285,"cut":false,"hidden":false,"merged":[]}
["disease_id","disease_name","cluster","cluster_items","silhouette_sample","ICD class name"]
["C0001231","ACTH Syndrome, Ectopic",155,29,"0.8917446133803774","Endocrine, nutritional and metabolic diseases"]
["C0001614","Adrenal Cortex Diseases",155,29,"0.8930542471690757"]
["C0001622","Adrenal Gland Hyperfunction",155,29,"0.6835686301495986"]
["C0003868","Arthritis, Gouty",155,29,"0.46305133568186185"]
["C0015469","Facial paralysis",155,29,"0.63050275280022","Diseases of the nervous system"]
["C0020488","Hypernatremia",155,29,"0.5913723966697572","Endocrine, nutritional and metabolic diseases"]
["C0154695","Diplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0154697","Cerebral Palsy, Quadriplegic, Infantile",155,29,"0.8930542471690757"]
["C0154698","Monoplegic Infantile Cerebral Palsy",155,29,"0.8930542471690757"]
["C0242217","Calcium Pyrophosphate Dihydrate Deposition",155,29,"0.8930542471690757"]
["C0270742","Athetoid cerebral palsy",155,29,"0.8930542471690757","Diseases of the nervous system"]
["C0270807","Monoplegic Cerebral Palsy",155,29,"0.8930542471690757"]
["C0271738","Hypocortisolism secondary to another disorder",155,29,"0.8930542471690757"]
["C0338596","Spastic cerebral palsy",155,29,"0.8930542471690757","Diseases of the nervous system"]
["C0340375","Subaortic stenosis",155,29,"0.42098968313868534"]
["C0342442","ACTH-dependent Cushing\\'s syndrome",155,29,"0.8930542471690757"]
["C0342494","Adrenocortical hyperplasia",155,29,"0.49969250988094815"]
["C0393626","Opsoclonus-Myoclonus Syndrome",155,29,"0.8930542471690757"]
["C0394003","Cerebral Palsy, Dystonic-Rigid",155,29,"0.8930542471690757"]
["C0394007","Cerebral Palsy, Atonic",155,29,"0.8930542471690757"]
["C0553767","Congenital Cerebral Palsy",155,29,"0.8930542471690757"]
["C0574960","Sacroiliitis",155,29,"0.8776843642592694"]
["C0751024","Cerebral Palsy, Mixed",155,29,"0.8930542471690757"]
["C0751025","Cerebral Palsy, Rolandic Type",155,29,"0.8930542471690757"]
["C1096154","Kinsbourne Syndrome",155,29,"0.8930542471690757"]
["C1721017","Paraneoplastic Opsoclonus-Myoclonus Ataxia",155,29,"0.8730135753135644"]
["C1857854","Proopiomelanocortin Deficiency",155,29,"0.8930542471690757"]
["C2936444","Pyogenic Sacroiliitis",155,29,"0.8930542471690757"]
["C2936445","Septic Sacroiliitis",155,29,"0.8930542471690757"]
["C0007286","Carpal Tunnel Syndrome",701,24,"0.8028438978019458","Diseases of the nervous system"]
["C0155127","Familial Amyloid Polyneuropathy, Type V",701,24,"0.04458880582337942","Diseases of the eye and adnexa"]
["C0158328","Trigger Finger Disorder",701,24,"0.923439776663983","Diseases of the musculoskeletal system and connective tissue"]
["C0206245","Amyloid Neuropathies, Familial",701,24,"0.9021123936287181","Endocrine, nutritional and metabolic diseases"]
["C0206247","Amyloid Neuropathies",701,24,"0.923439776663983"]
["C0259749","Autonomic neuropathy",701,24,"0.8613429782763394"]
["C0268380","Systemic amyloidosis",701,24,"0.6363915466641327"]
["C0268383","Familial amyloid polyneuropathy, type VI",701,24,"0.923439776663983"]
["C0268384","Familial Amyloid Neuropathy, Portuguese Type",701,24,"0.9220991276576457"]
["C0268385","Familial Amyloid Polyneuropathy, Jewish Type",701,24,"0.923439776663983"]
["C0268386","Amyloid Polyneuropathy, Swiss Type",701,24,"0.923439776663983"]
["C0339562","Amyloid of vitreous",701,24,"0.923439776663983"]
["C0342608","Amyloid Polyneuropathy, British Type (disorder)",701,24,"0.7187502700570871"]
["C0342613","Danish type familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0342623","Senile systemic amyloidosis",701,24,"0.923439776663983"]
["C1527337","Familial Amyloid Polyneuropathy, Appalachian Type",701,24,"0.923439776663983"]
["C1719315","Hereditary cardiac amyloidosis",701,24,"0.923439776663983"]
["C2718001","Protein Misfolding Disorders",701,24,"0.923439776663983"]
["C2750824","Dystransthyretinemic Euthyroidal Hyperthyroxinemia",701,24,"0.923439776663983"]
["C2751492","AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED",701,24,"0.8835970678476642"]
["C3151470","AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3151471","AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED",701,24,"0.923439776663983"]
["C3468338","CARPAL TUNNEL SYNDROME, FAMILIAL",701,24,"0.923439776663983"]
["C4275067","Transthyretin related familial amyloid cardiomyopathy",701,24,"0.923439776663983"]
["C0040479","Torsades de Pointes",761,20,"0.04960521615724695"]
["C0264913","Left posterior fascicular block",761,20,"0.6561976047947479","Diseases of the circulatory system"]
["C0340493","Paroxysmal familial ventricular fibrillation",761,20,"0.2585759617414731"]
["C0344431","Ventricular tachycardia, monomorphic",761,20,"0.6561976047947479"]
["C0685108","Lenegre\\'s disease",761,20,"0.6561976047947479"]
["C1141890","Congenital long QT syndrome",761,20,"-0.4814313865646901"]
["C1832680","CARDIOMYOPATHY, DILATED, 1E",761,20,"0.6561976047947479"]
["C1837845","SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE",761,20,"0.6561976047947479"]
["C1859062","LONG QT SYNDROME 3",761,20,"0.6760732736639268"]
["C1861983","Heart Block, Nonprogressive",761,20,"0.6561976047947479"]
["C1861984","Cardiac Conduction Defect, Nonprogressive",761,20,"0.6561976047947479"]
["C1879286","Hereditary bundle branch system defect",761,20,"0.4592001422253858"]
["C2748542","CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)",761,20,"0.6119080928300611"]
["C2751898","Ventricular Fibrillation, Paroxysmal Familial, 1",761,20,"0.5072771874691712"]
["C2931401","Long QT syndrome type 3",761,20,"0.6561976047947479"]
["C3151464","ATRIAL FIBRILLATION, FAMILIAL, 10",761,20,"0.6561976047947479"]
["C3276240","LONG QT SYNDROME 2/3, DIGENIC",761,20,"0.5148869923873103"]
["C3276241","LONG QT SYNDROME 3/6, DIGENIC Disorder",761,20,"0.42203767574616585"]
["C3698186","Cardiac channelopathy",761,20,"0.6561976047947479"]
["C4476543","Complete heart block with broad QRS complexes",761,20,"0.6561976047947479"]
["C0155380","Dissociated Nystagmus",571,20,"0.9740371723062394","Diseases of the eye and adnexa"]
["C0240595","Rotary Nystagmus",571,20,"0.7188603094384184"]
["C0271382","Periodic Alternating Nystagmus",571,20,"0.9740371723062394"]
["C0271383","Symptomatic Nystagmus",571,20,"0.9740371723062394"]
["C0271384","Spontaneous Ocular Nystagmus",571,20,"0.9740371723062394","Diseases of the eye and adnexa"]
["C0271386","Vertical Nystagmus",571,20,"0.8211496988999306"]
["C0271387","Rebound Nystagmus",571,20,"0.9740371723062394"]
["C0271389","Jerk Nystagmus",571,20,"0.9740371723062394"]
["C0344243","See-Saw Nystagmus",571,20,"0.9740371723062394"]
["C0520731","Retraction Nystagmus",571,20,"0.9740371723062394"]
["C0521753","Temporary Nystagmus",571,20,"0.9740371723062394"]
["C0521754","Permanent Nystagmus",571,20,"0.9740371723062394"]
["C0521755","Unidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521756","Multidirectional Nystagmus",571,20,"0.9740371723062394"]
["C0521757","Conjugate Nystagmus",571,20,"0.9740371723062394"]
["C0521759","Convergence Nystagmus",571,20,"0.9740371723062394"]
["C0521760","Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C0521761","Non-Fatigable Positional Nystagmus",571,20,"0.9740371723062394"]
["C1854260","LEBER CONGENITAL AMAUROSIS 6 (disorder)",571,20,"0.9740371723062394"]
["C2750720","Cone-Rod Dystrophy 13",571,20,"0.9740371723062394"]
["C0019345","Herpes Labialis",62,19,"0.947551417529255","Certain infectious and parasitic diseases"]
["C0020479","Hyperlipoproteinemia Type III",62,19,"0.7531548851998167"]
["C0036489","Sea-Blue Histiocyte Syndrome",62,19,"0.8168563870397634"]
["C0340569","Internal Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0349081","Dementia in Parkinson\\'s disease",62,19,"0.947551417529255","Diseases of the nervous system"]
["C0393664","Multiple Sclerosis, Acute Relapsing",62,19,"0.947551417529255"]
["C0595905","cortex bone disorders",62,19,"0.947551417529255"]
["C0751635","Common Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751636","External Carotid Artery Stenosis",62,19,"0.947551417529255"]
["C0751967","Multiple Sclerosis, Relapsing-Remitting",62,19,"0.6766125011495338"]
["C1862556","Apolipoprotein E, Deficiency or Defect of",62,19,"0.947551417529255"]
["C1862557","Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d",62,19,"0.947551417529255"]
["C1862558","Familial Hyperbeta- and Prebetalipoproteinemia",62,19,"0.947551417529255"]
["C1862560","Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis",62,19,"0.947551417529255"]
["C1862561","Broad-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1862562","Floating-Betalipoproteinemia",62,19,"0.947551417529255"]
["C1863051","ALZHEIMER DISEASE 2",62,19,"0.7487289614634013"]
["C2673196","LIPOPROTEIN GLOMERULOPATHY",62,19,"0.9466710447551693"]
["C4237227","Obstructive sleep apnea hypopnea",62,19,"0.947551417529255","Diseases of the nervous system"]
["C0796207","MENTAL RETARDATION, X-LINKED 2 (disorder)",217,18,"0.9407568144808138"]
["C0796220","MENTAL RETARDATION, X-LINKED 14",217,18,"0.9407568144808138"]
["C0796226","MENTAL RETARDATION, X-LINKED 20",217,18,"0.9407568144808138"]
["C0796229","MENTAL RETARDATION, X-LINKED 23",217,18,"0.9407568144808138"]
["C1845144","Mental Retardation, X-Linked 92",217,18,"0.9407568144808138"]
["C1845286","MENTAL RETARDATION, X-LINKED 82",217,18,"0.9407568144808138"]
["C1845297","MENTAL RETARDATION, X-LINKED 84",217,18,"0.9407568144808138"]
["C1845499","MENTAL RETARDATION, X-LINKED 77",217,18,"0.9407568144808138"]
["C1845531","MENTAL RETARDATION, X-LINKED 81",217,18,"0.9407568144808138"]
["C1845810","MENTAL RETARDATION, X-LINKED 42",217,18,"0.9407568144808138"]
["C1845860","MENTAL RETARDATION, X-LINKED 73",217,18,"0.9407568144808138"]
["C1845889","MENTAL RETARDATION, X-LINKED 53",217,18,"0.9407568144808138"]
["C1846038","MENTAL RETARDATION, X-LINKED 72",217,18,"0.7974229647634385"]
["C1848087","MENTAL RETARDATION, X-LINKED 50",217,18,"0.9407568144808138"]
["C2678034","MENTAL RETARDATION, X-LINKED 95",217,18,"0.9407568144808138"]
["C3275443","MENTAL RETARDATION, X-LINKED 90 (disorder)",217,18,"0.6438841517661003"]
["C3275444","MENTAL RETARDATION, X-LINKED 88 (disorder)",217,18,"0.9407568144808138"]
["C3887939","MENTAL RETARDATION, X-LINKED 41",217,18,"0.600161968928229"]
["C0001889","Akinetic Mutism",130,18,"0.880517536873952"]
["C0017495","Gerstmann-Straussler-Scheinker Disease",130,18,"0.868073046561852","Certain infectious and parasitic diseases"]
["C0022802","Kuru",130,18,"0.880517536873952","Certain infectious and parasitic diseases"]
["C0162534","Prion Diseases",130,18,"0.5639481907382818","Certain infectious and parasitic diseases"]
["C0206042","Fatal Familial Insomnia",130,18,"0.880517536873952","Certain infectious and parasitic diseases"]
["C0751645","Human Transmissible Spongiform Encephalopathies, Inherited",130,18,"0.880517536873952"]
["C1135993","Wasting Disease, Chronic",130,18,"0.880517536873952"]
["C1847650","SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES",130,18,"0.880517536873952"]
["C1852467","Creutzfeldt-Jakob Disease, Sporadic",130,18,"0.858696393031489","Certain infectious and parasitic diseases"]
["C1864112","HUNTINGTON DISEASE-LIKE 1",130,18,"0.880517536873952"]
["C1969957","Creutzfeldt-Jakob Disease, Heidenhain Variant",130,18,"0.880517536873952"]
["C2349757","Iatrogenic Jakob-Creutzfeldt disease",130,18,"0.548250420431056","Certain infectious and parasitic diseases"]
["C2900450","Other Creutzfeldt-Jakob disease",130,18,"0.7910919249868396","Certain infectious and parasitic diseases"]
["C2931022","Amyloidosis, Cerebral, with Spongiform Encephalopathy",130,18,"0.880517536873952"]
["C2931859","Acquired CJD",130,18,"0.12289884470083402"]
["C3805618","CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED",130,18,"0.880517536873952"]
["C4275003","Familial Creutzfeldt-Jakob",130,18,"0.880517536873952"]
["C4303482","Familial Alzheimer-like prion disease",130,18,"0.880517536873952"]
["C0027145","Myxedema",562,17,"0.8680601743049992","Endocrine, nutritional and metabolic diseases"]
["C0040149","Subacute thyroiditis",562,17,"0.8680601743049992","Endocrine, nutritional and metabolic diseases"]
["C0040156","Thyrotoxicosis",562,17,"0.2650637609359388","Endocrine, nutritional and metabolic diseases"]
["C0271790","Subclinical hypothyroidism",562,17,"0.8597538955951437"]
["C0271791","Severe hypothyroidism",562,17,"0.6205795358777723"]
["C0271814","Silent thyroiditis",562,17,"0.8680601743049992"]
["C0302840","Toxic thyroid adenoma",562,17,"0.8680601743049992"]
["C0342114","Diffuse goiter",562,17,"0.8680601743049992","Endocrine, nutritional and metabolic diseases"]
["C0342122","Toxic diffuse goiter",562,17,"0.8680601743049992","Endocrine, nutritional and metabolic diseases"]
["C0700502","Acquired hypothyroidism",562,17,"0.7958214371441152"]
["C0869147","Neonatal hyperthyroidism",562,17,"0.8680601743049992"]
["C0920350","Autoimmune thyroiditis",562,17,"-0.04821207215882876","Endocrine, nutritional and metabolic diseases"]
["C1262098","Congenital hyperthyroidism",562,17,"0.8680601743049992"]
["C1836706","Hyperthyroidism, Nonautoimmune",562,17,"0.8680601743049992"]
["C1863959","Hyperthyroidism, Familial Gestational",562,17,"0.8680601743049992"]
["C2940785","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3",562,17,"0.8680601743049992"]
["C3493776","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1",562,17,"0.8536636567972329"]
["C0014547","Epilepsies, Partial",1039,16,"0.39604734328491253"]
["C0086240","Epilepsy, Simple Partial",1039,16,"0.9183429424175625"]
["C0234974","Simple Partial Seizures",1039,16,"0.7989936344921901"]
["C0270820","Gelastic Epilepsy",1039,16,"0.9183429424175625"]
["C0270847","Benign Focal Epilepsy, Childhood",1039,16,"0.9183429424175625"]
["C0393675","Childhood Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C0393679","Amygdalo-Hippocampal Epilepsy",1039,16,"0.9183429424175625"]
["C0393681","Rhinencephalic Epilepsy",1039,16,"0.9183429424175625"]
["C0393691","Occipital Lobe Epilepsy",1039,16,"0.9183429424175625"]
["C0751112","Subclinical Seizure",1039,16,"0.9183429424175625"]
["C0751113","Uncinate Seizures",1039,16,"0.9183429424175625"]
["C0751115","Digestive Epilepsy",1039,16,"0.9183429424175625"]
["C1851549","Benign Occipital Epilepsy",1039,16,"0.9183429424175625"]
["C3494976","Migrating partial seizures in infancy",1039,16,"0.7057371472318906"]
["C3554195","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14",1039,16,"0.7989936344921899"]
["C3554306","EPILEPSY, NOCTURNAL FRONTAL LOBE, 5",1039,16,"0.8997102131297593"]
["C0022333","Jacksonian Seizure",1976,15,"0.9789328826113658"]
["C0149958","Complex partial seizures",1976,15,"0.9709321206286015"]
["C0234533","Generalized seizures",1976,15,"0.971800977558953"]
["C0234535","Seizures, Clonic",1976,15,"0.9789366277704856"]
["C0270824","Visual seizure",1976,15,"0.7895829692997142"]
["C0270846","Epileptic drop attack",1976,15,"0.9713198860612889"]
["C0422853","Olfactory seizure",1976,15,"0.9789328826113658"]
["C0422855","Vertiginous seizure",1976,15,"0.9789328826113658"]
["C0494475","Tonic - clonic seizures",1976,15,"0.940252008368818","Diseases of the nervous system"]
["C0751110","Single Seizure",1976,15,"0.9789328826113658"]
["C0751123","Atonic Absence Seizures",1976,15,"0.9789328826113658"]
["C0751495","Seizures, Focal",1976,15,"0.96689874902201"]
["C3495874","Nonepileptic Seizures",1976,15,"0.9789328826113658"]
["C4317109","Epileptic Seizures",1976,15,"0.9788980572659038"]
["C4505436","Generalized Absence Seizures",1976,15,"0.9789328826113658"]
["C0019021","Hemoglobin C Disease",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0221019","Sickle cell-beta-thalassemia",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0271986","delta beta^0^ Thalassemia",363,15,"1.0"]
["C0271987","^A^gamma delta beta^0^ thalassemia",363,15,"1.0"]
["C0272080","Hemoglobin D disease",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272084","Hemoglobin SD disease",363,15,"1.0"]
["C0272085","Sickle cell-hemoglobin E disease",363,15,"1.0"]
["C0472769","Hemoglobin Lepore trait",363,15,"1.0"]
["C0472777","Hemoglobin E/beta thalassemia disease",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0599528","beta thalassemia major anemia",363,15,"1.0"]
["C0857812","Sickle cell-beta^+^-thalassemia",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0869532","Beta thalassemia minor",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1264000","Sickle cell-Hemoglobin O Arab disease",363,15,"1.0"]
["C1858990","Beta Thalassemia, Dominant Inclusion Body Type",363,15,"1.0"]
["C3161373","Dominant thalassemia",363,15,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0029132","Disorder of the optic nerve",281,15,"0.6301434130279467"]
["C0152112","Foster-Kennedy Syndrome",281,15,"0.7499787358115191","Diseases of the eye and adnexa"]
["C0154971","Presenile cataract",281,15,"0.6721328702701199"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","Diseases of the eye and adnexa"]
["C0155299","Coloboma of optic disc",281,15,"0.4842581372775531","Congenital malformations, deformations and chromosomal abnormalities"]
["C0338502","Hypoplasia of the optic nerve",281,15,"0.21257798129024685","Diseases of the eye and adnexa"]
["C0521573","Coloboma of eyelid",281,15,"0.04564369362472322","Congenital malformations, deformations and chromosomal abnormalities"]
["C0549307","Morning glory syndrome",281,15,"0.7499787358115191"]
["C0751402","Optic Disk Disorders",281,15,"0.7499787358115191"]
["C1833797","Optic Nerve Hypoplasia, Bilateral",281,15,"0.7499787358115191","Diseases of the eye and adnexa"]
["C1833798","Optic Nerve Aplasia, Bilateral",281,15,"0.7499787358115191"]
["C1835698","Keratitis, hereditary",281,15,"0.7499787358115191"]
["C2931644","O\\'Donnell Pappas syndrome",281,15,"0.7499787358115191"]
["C3554721","Morning glory anomaly",281,15,"0.6160530614576153"]
["C3805604","FOVEAL HYPOPLASIA 1",281,15,"0.7499787358115191"]
["C4310809","ANTERIOR SEGMENT DYSGENESIS 5",281,15,"0.7499787358115191"]
["C0235820","Neonatal encephalopathy",1324,14,"0.9477127756007206","Certain conditions originating in the perinatal period"]
["C0751349","Myoclonus, Eyelid",1324,14,"0.550376361912529"]
["C0796222","Mental Retardation, X-Linked 16",1324,14,"0.9477127756007206"]
["C1442978","Hernia of abdominal wall",1324,14,"0.9477127756007206"]
["C1510417","Gait Apraxia",1324,14,"0.9477127756007206"]
["C1839332","Rett Syndrome, Preserved Speech Variant",1324,14,"0.9477127756007206"]
["C1848211","Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism",1324,14,"0.9477127756007206"]
["C1968550","Mental Retardation, X-Linked, Syndromic 13",1324,14,"0.9477127756007206"]
["C1968551","Mental Retardation, X-Linked 79",1324,14,"0.9477127756007206"]
["C1968552","Mental Retardation, X-Linked, With Spasticity",1324,14,"0.9477127756007206"]
["C1968556","ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS",1324,14,"0.9477127756007206"]
["C2677682","Rett Syndrome, Zappella Variant",1324,14,"0.9477127756007206"]
["C3713418","Ppm-X Syndrome",1324,14,"0.9477127756007206"]
["C3714043","Trisomy Xq28",1324,14,"0.9477127756007206"]
["C0393593","Dystonia Disorders",951,14,"0.6982519975028805","Diseases of the nervous system"]
["C0393598","Idiopathic familial dystonia",951,14,"0.7679777162686043","Diseases of the nervous system"]
["C0743332","Focal Dystonia",951,14,"0.9201450282110738"]
["C0752197","Adult-Onset Dystonias",951,14,"0.9589805064494471"]
["C0752198","Adult-Onset Idiopathic Focal Dystonias",951,14,"0.9592504244316343"]
["C0752199","Adult-Onset Idiopathic Torsion Dystonias",951,14,"0.9592504244316343"]
["C0752200","Autosomal Dominant Familial Dystonia",951,14,"0.9592504244316343"]
["C0752201","Autosomal Recessive Familial Dystonia",951,14,"0.9592504244316343"]
["C0752202","Childhood Onset Dystonias",951,14,"0.9583412898482454"]
["C0752203","Dystonia, Primary",951,14,"0.9427935104653784"]
["C0752205","Dystonia, Secondary",951,14,"0.9594463549465768"]
["C0752206","Dystonias, Sporadic",951,14,"0.9591923466269677"]
["C0752207","Familial Dystonia",951,14,"0.9117739505549026"]
["C4316810","Writer\\'s Cramp",951,14,"0.9592504244316343"]
["C0037188","Sinoatrial Block",183,14,"0.9732481556666437","Diseases of the circulatory system"]
["C0432291","Mandibuloacral dysostosis",183,14,"0.7458752608412959"]
["C0796031","Malouf syndrome",183,14,"0.9732481556666437"]
["C0796083","Najjar syndrome",183,14,"0.9732481556666437"]
["C1834653","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)",183,14,"0.7792889807876336"]
["C1854154","Charcot-Marie-Tooth disease, Type 2B1",183,14,"0.9732481556666437"]
["C1857829","Heart-hand syndrome, Slovenian type",183,14,"0.9732481556666437"]
["C2750035","Emery-Dreifuss Muscular Dystrophy 3",183,14,"0.9732481556666437"]
["C2750285","Progeria Syndrome, Childhood-Onset",183,14,"0.9732481556666437"]
["C2750785","MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)",183,14,"0.9732481556666437"]
["C3266164","Dropped head syndrome",183,14,"0.9732481556666437"]
["C4021573","Patchy hypo- and hyperpigmentation",183,14,"0.9732481556666437"]
["C4021684","Sclerosis of hand bone",183,14,"0.9732481556666437"]
["C4275075","Atypical Werner syndrome",183,14,"0.9694821351266303"]
["C0033377","Ptosis",1196,13,"0.9182382953840843"]
["C0154208","Disorder of endocrine ovary",1196,13,"0.7066692397622093","Endocrine, nutritional and metabolic diseases"]
["C0220663","BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)",1196,13,"0.9829110049058106"]
["C1837008","PREMATURE OVARIAN FAILURE 3 (disorder)",1196,13,"0.9829110049058106"]
["C1862260","BPES, TYPE I",1196,13,"0.9829110049058106"]
["C1862261","BPES, TYPE II",1196,13,"0.9829110049058106"]
["C1862262","Bpes With Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862263","Bpes Without Ovarian Failure",1196,13,"0.9829110049058106"]
["C1862264","Bpes With Duane Retraction Syndrome",1196,13,"0.9829110049058106"]
["C1970106","Bpes, Type I, Autosomal Recessive",1196,13,"0.9829110049058106"]
["C2931135","Blepharophimosis syndrome type 1",1196,13,"0.9829110049058106"]
["C2931136","Blepharophimosis syndrome type 2",1196,13,"0.9829110049058106"]
["C3714208","Blepharophimosis, Ptosis, and Epicanthus Inversus Type II",1196,13,"0.9829110049058106"]
["C0008526","Choroiditis",507,13,"0.8004782025957944","Diseases of the eye and adnexa"]
["C0020875","Ileal Diseases",507,13,"0.7697948998824663"]
["C0022081","Iritis",507,13,"0.7697948998824663"]
["C0272192","Familial eosinophilia",507,13,"0.8004782025957944","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0275551","Primary bacterial peritonitis",507,13,"0.49002046160008855","Diseases of the digestive system"]
["C0341268","Disorder of small intestine",507,13,"0.8004782025957944"]
["C0376620","Pouchitis",507,13,"0.5543677376628083","Diseases of the digestive system"]
["C1836122","SARCOIDOSIS, EARLY-ONSET",507,13,"0.8004782025957944"]
["C1853438","INFLAMMATORY BOWEL DISEASE 5",507,13,"0.44261517234695835"]
["C1861303","SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)",507,13,"0.7999739921000218","Diseases of the musculoskeletal system and connective tissue"]
["C2931133","Pediatric Crohn\\'s disease",507,13,"0.4326116375734043"]
["C4024795","Nongranulomatous uveitis",507,13,"0.8004782025957944"]
["C4310620","YAO SYNDROME",507,13,"0.8004782025957944"]
["C0024440","Macular Edema, Cystoid",22,13,"0.614760960454895"]
["C0151814","Coronary Occlusion",22,13,"0.7102161850041155","Diseases of the circulatory system"]
["C0151970","Ulcer of esophagus",22,13,"0.8079605355986446","Diseases of the digestive system"]
["C0154830","Proliferative diabetic retinopathy",22,13,"0.4046215313223032"]
["C0154916","Rubeosis iridis",22,13,"0.8079605355986446","Diseases of the eye and adnexa"]
["C0271051","Macular retinal edema",22,13,"0.7170523466438684"]
["C0271084","Exudative age-related macular degeneration",22,13,"0.7292848099415582","Diseases of the eye and adnexa"]
["C0271178","Irvine-Gass Syndrome",22,13,"0.8079605355986446"]
["C0600518","Choroidal Neovascularization",22,13,"0.6499477350730086"]
["C0730285","Diabetic macular edema",22,13,"0.5705128017554774"]
["C0741032","Refractory angina",22,13,"0.8079605355986446"]
["C1456868","Diabetic foot ulcer",22,13,"0.6488481141584814"]
["C4068858","Avascular retina",22,13,"0.8079605355986446"]
["C0023234","Legg-Calve-Perthes Disease",6,13,"0.7868469387818716","Diseases of the musculoskeletal system and connective tissue"]
["C0521770","Asteroid hyalosis",6,13,"0.9640554617826333"]
["C0700635","Strudwick syndrome",6,13,"0.7546808215812152"]
["C0796173","Spondyloperipheral dysplasia short ulna",6,13,"0.9640554617826333"]
["C1835437","Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",6,13,"0.9640554617826333"]
["C1836080","Stickler Syndrome, Type I, Nonsyndromic Ocular",6,13,"0.9640554617826333"]
["C1836081","RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT",6,13,"0.9640554617826333"]
["C1851536","Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness",6,13,"0.9640554617826333"]
["C1852989","Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia",6,13,"0.9640554617826333"]
["C1858079","Osteoarthritis with Mild Chondrodysplasia",6,13,"0.9640554617826333"]
["C1866688","Spondylometaphyseal dysplasia, Algerian type",6,13,"0.9640554617826333"]
["C4225273","SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE",6,13,"0.9640554617826333"]
["C4302548","Dysspondyloenchondromatosis",6,13,"0.9640554617826333"]
["C0019562","Von Hippel-Lindau Syndrome",1349,12,"0.8306391344771956","Congenital malformations, deformations and chromosomal abnormalities"]
["C0037859","Spermatocele",1349,12,"0.3133829326841185","Diseases of the genitourinary system"]
["C0221276","Relative erythrocytosis",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272144","Erythrocytosis due to tissue hypoxemia",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0391869","Polycythemia due to excess erythopoetin production",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0541719","Stress polycythemia",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0865275","Polycythemia due to fall in plasma volume",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0865276","Polycythemia due to high altitude",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1837915","ERYTHROCYTOSIS, FAMILIAL, 2",1349,12,"0.9526266257878601"]
["C2674004","VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF",1349,12,"0.9526266257878601"]
["C2873823","Polycythemia due to erythropoietin",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2873824","Polycythemia due to stress",1349,12,"0.9526266257878601","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0221055","Paramyotonia Congenita (disorder)",773,12,"0.9993405043486447","Diseases of the nervous system"]
["C0268445","Normokalemic Periodic Paralysis",773,12,"0.9993405043486447"]
["C0752355","Myotonia Fluctuans (disorder)",773,12,"0.9993405043486447","Diseases of the nervous system"]
["C1868433","Normokalemic Periodic Paralysis, Potassium-Sensitive",773,12,"0.9993405043486447"]
["C1868619","Paramyotonia Congenita Without Cold Paralysis",773,12,"0.9993405043486447"]
["C2750061","Hypokalemic Periodic Paralysis, Type 2",773,12,"0.9993405043486447"]
["C2931826","Potassium aggravated myotonia",773,12,"0.9927818852737179","Diseases of the nervous system"]
["C3149517","LARYNGOSPASM, SEVERE NEONATAL EPISODIC",773,12,"0.9993405043486447"]
["C3280112","MYASTHENIC SYNDROME, CONGENITAL, 16",773,12,"0.9993405043486447"]
["C3489447","Hyperkalemic Periodic Paralysis Type 2",773,12,"0.9993405043486447"]
["C4023179","Paradoxical myotonia",773,12,"0.9993405043486447"]
["C4275008","Acetazolamide responsive myotonia",773,12,"0.9993405043486447"]
["C0042974","von Willebrand Disease",142,12,"0.026664763351565465","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0085411","Angiodysplasia",142,12,"0.8847564051189242"]
["C0267370","Angiodysplasia of colon",142,12,"0.8847564051189242","Diseases of the digestive system"]
["C0272355","von Willebrand disease, type IIC",142,12,"0.8847564051189242"]
["C1264039","von Willebrand Disease, Type 1",142,12,"0.8833237979197212"]
["C1264040","von Willebrand Disease, Type 2",142,12,"0.8847564051189242"]
["C1264041","von Willebrand Disease, Type 3",142,12,"0.886221121444255"]
["C1282968","von Willebrand Disease, Type 2A",142,12,"0.8871952082542592"]
["C1282971","von Willebrand Disease, Type 2B",142,12,"0.8902910182284697"]
["C1282974","von Willebrand disease type 2M",142,12,"0.8847564051189242"]
["C1282975","von Willebrand Disease, Type 2N",142,12,"0.8860578969850459"]
["C3641106","Congenital Bleeding Disorder",142,12,"0.6644661926356533"]
["C0035312","Retinal Drusen",94,12,"0.9997606633874201"]
["C0151565","Hemorrhagic colitis",94,12,"0.9997606633874201"]
["C0235618","Proliferative glomerulonephritis",94,12,"0.9997606633874201"]
["C0398777","Complement Factor H Deficiency",94,12,"0.9997606633874201"]
["C0730295","BASAL LAMINAR DRUSEN (disorder)",94,12,"0.9973717360343749"]
["C0730314","Chronic central serous chorioretinopathy",94,12,"0.9997606633874201"]
["C0853888","Hypocomplementaemia",94,12,"0.9997606633874201"]
["C1268937","Diarrhea-negative hemolytic uremic syndrome",94,12,"0.9997606633874201"]
["C1533060","Multifocal choroiditis",94,12,"0.9997606633874201"]
["C1720452","Soft drusen",94,12,"0.9997606633874201"]
["C1853147","MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)",94,12,"0.9997606633874201"]
["C1856143","HEMOLYTIC UREMIC SYNDROME, TYPICAL",94,12,"0.9997606633874201"]
["C0030409","Paracoccidioidomycosis",61,12,"0.9361544369942634","Certain infectious and parasitic diseases"]
["C0032749","Post-kala-azar dermal leishmaniasis",61,12,"0.5850735930557925","Certain infectious and parasitic diseases"]
["C0043407","Yersinia infections",61,12,"0.9361544369942634"]
["C0085311","Diffuse cutaneous leishmaniasis",61,12,"0.9361544369942634"]
["C0267375","Chronic colitis",61,12,"0.8359086116075667"]
["C0267541","Typhlocolitis",61,12,"0.9361544369942634"]
["C0948780","Rhinosinusitis",61,12,"0.9361544369942634"]
["C1719498","Generalized chronic periodontitis",61,12,"0.9361544369942634","Diseases of the digestive system"]
["C1720795","Acute Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1720796","Asymptomatic Inflammatory Prostatitis",61,12,"0.9361544369942634"]
["C1720797","Chronic Bacterial Prostatitis",61,12,"0.9361544369942634"]
["C1723764","Chronic Prostatitis with Chronic Pelvic Pain Syndrome",61,12,"0.9361544369942634"]
["C0740385","Aneurysm, Middle Cerebral Artery",808,11,"0.6714273968825109"]
["C0740386","Aneurysm, Anterior Communicating Artery",808,11,"0.6714273968825109"]
["C0740387","Aneurysm, Posterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751000","Aneurysm, Anterior Cerebral Artery",808,11,"0.6714273968825109"]
["C0751001","Aneurysm, Basilar Artery",808,11,"0.6714273968825109"]
["C0751003","Brain Aneurysm",808,11,"0.37870250515460463"]
["C0751004","Giant Intracranial Aneurysm",808,11,"0.6714273968825109"]
["C0751005","Mycotic Aneurysm, Intracranial",808,11,"0.6714273968825109"]
["C0917996","Cerebral Aneurysm",808,11,"0.5486628484746809","Diseases of the circulatory system"]
["C1290398","Cerebral arterial aneurysm",808,11,"-0.2623549887524338"]
["C1856251","Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I",808,11,"0.6714273968825109"]
["C0023944","Locked-In Syndrome",690,11,"0.9471990763674978","Diseases of the nervous system"]
["C0270933","Inflammatory neuropathy",690,11,"0.3133082460602747"]
["C0393814","Hereditary liability to pressure palsies",690,11,"0.940500904712082"]
["C0751460","Flaccid Quadriplegia",690,11,"0.9471990763674978"]
["C0751461","Paralysis, Spinal, Quadriplegic",690,11,"0.9471990763674978"]
["C1861669","Charcot-Marie-Tooth disease and deafness",690,11,"0.9471990763674978"]
["C2931686","Charcot-Marie-Tooth disease, Type 1E",690,11,"0.9471990763674978"]
["C3495591","Charcot-Marie-Tooth Disease, Demyelinating, Type 1e",690,11,"0.9471990763674978"]
["C3542501","Acute inflammatory demyelinating polyneuropathy",690,11,"0.9459716713743744"]
["C4020904","Myelin tomacula",690,11,"0.9471990763674978"]
["C4083008","Guillain-Barre Syndrome, Familial",690,11,"0.9471990763674978"]
["C0039373","Tay-Sachs Disease",600,11,"0.9792245946550844","Endocrine, nutritional and metabolic diseases"]
["C0268276","Juvenile GM 2 gangliosidosis",600,11,"0.9980248121615493","Endocrine, nutritional and metabolic diseases"]
["C0282220","Amaurotic Familial Idiocy",600,11,"0.9980248121615493"]
["C1848913","Tay-Sachs Disease, Juvenile",600,11,"0.9980248121615493"]
["C1848914","Hexosaminidase A Deficiency, Adult Type",600,11,"0.9980248121615493"]
["C1848915","Gm2-Gangliosidosis, Adult Chronic Type",600,11,"0.9980248121615493"]
["C1848916","Tay-Sachs Disease, Variant B1",600,11,"0.9980248121615493"]
["C1848917","Tay-Sachs Disease, Pseudo-AB Variant",600,11,"0.9980248121615493"]
["C1848922","Hexosaminidase alpha-Subunit Deficiency (Variant B)",600,11,"0.9980248121615493"]
["C2749283","Gm2-Gangliosidosis, Variant B1",600,11,"0.9980248121615493"]
["C2874270","GM2-GANGLIOSIDOSIS, ADULT",600,11,"0.9980248121615493","Endocrine, nutritional and metabolic diseases"]
["C0162281","Corneal deposit",528,11,"0.9998287549904908","Diseases of the eye and adnexa"]
["C0271285","Epithelial basement membrane dystrophy",528,11,"0.9998287549904908"]
["C0339278","Reis-Bucklers\\' corneal dystrophy",528,11,"0.9998287549904908"]
["C0521723","Corneal dystrophy, epithelial basement membrane",528,11,"0.9998287549904908"]
["C0544848","Dystrophy, granular",528,11,"0.9998287549904908"]
["C1275685","Avellino corneal dystrophy",528,11,"0.998712044918426"]
["C1562894","Thiel-Behnke corneal dystrophy",528,11,"0.9994048100703302"]
["C1641846","Groenouw corneal dystrophy type I (disorder)",528,11,"0.9998287549904908"]
["C1690006","Lattice corneal dystrophy Type I",528,11,"0.9998287549904908"]
["C1837974","Corneal Dystrophy, Lattice Type IIIA",528,11,"0.9998287549904908"]
["C2939149","Amyloid of cornea",528,11,"0.9998287549904908"]
["C0012736","Dissecting aortic aneurysm",450,11,"0.9962367115472965"]
["C0023316","Lens Subluxation",450,11,"0.9962367115472965","Diseases of the eye and adnexa"]
["C0410787","Hereditary Connective Tissue Disorder",450,11,"0.9962367115472965"]
["C0856747","Aneurysm of ascending aorta",450,11,"0.9962367115472965"]
["C1858556","OVERLAP CONNECTIVE TISSUE DISEASE",450,11,"0.9635070861983746"]
["C1861456","Stiff Skin Syndrome",450,11,"0.9962367115472965"]
["C2931588","GEMSS syndrome",450,11,"0.9962367115472965"]
["C3280054","GELEOPHYSIC DYSPLASIA 2",450,11,"0.9962367115472965"]
["C3541518","ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT",450,11,"0.9962367115472965"]
["C4021645","Recurrent abdominal hernia",450,11,"0.9962367115472965"]
["C4310796","MARFAN LIPODYSTROPHY SYNDROME",450,11,"0.9962367115472965"]
["C0039338","Taste Disorders",406,11,"0.9999999999999993"]
["C0234297","Taste Disorder, Primary",406,11,"0.9999999999999993"]
["C0234298","Taste Disorder, Primary, Sweet",406,11,"0.9999999999999993"]
["C0234299","Taste Disorder, Primary, Salt",406,11,"0.9999999999999993"]
["C0234300","Taste Disorder, Primary, Bitter",406,11,"0.9999999999999993"]
["C0234302","Taste Disorder, Anterior Tongue",406,11,"0.9999999999999993"]
["C0234303","Taste Disorder, Secondary",406,11,"0.9999999999999993"]
["C0234304","Taste Disorder, Secondary, Sweet",406,11,"0.9999999999999993"]
["C0234305","Taste Disorder, Secondary, Salt",406,11,"0.9999999999999993"]
["C0234306","Taste Disorder, Secondary, Bitter",406,11,"0.9999999999999993"]
["C0234319","Taste Disorder, Posterior Tongue",406,11,"0.9999999999999993"]
["C0018204","Granulomatous prostatitis",103,11,"0.8735624215362114","Diseases of the genitourinary system"]
["C0023351","Tuberculoid leprosy",103,11,"0.8735624215362114","Certain infectious and parasitic diseases"]
["C0041466","Typhoid Fever",103,11,"0.8794987616039337","Certain infectious and parasitic diseases"]
["C0151450","Secondary SjÃ¶gren\\'s syndrome",103,11,"0.8735624215362114"]
["C0240903","Rheumatoid Vasculitis",103,11,"0.8735624215362114"]
["C0242993","Nephropathia Epidemica",103,11,"0.5736702590571869","Certain infectious and parasitic diseases"]
["C0393847","Multifocal motor neuropathy",103,11,"0.8735624215362114","Diseases of the nervous system"]
["C0409651","Seropositive rheumatoid arthritis",103,11,"0.22365038115559094"]
["C0577620","Nut Hypersensitivity",103,11,"0.8735624215362114"]
["C1843273","Tubulointerstitial nephritis and uveitis",103,11,"0.8735624215362114"]
["C3899281","Early Inflammatory Arthritis",103,11,"0.8735624215362114"]
["C0021295","Infant, Premature, Diseases",37,11,"0.742036900172199"]
["C0028841","Ocular Hypotension",37,11,"0.742036900172199","Diseases of the eye and adnexa"]
["C0042075","Urologic Diseases",37,11,"0.742036900172199","Diseases of the genitourinary system"]
["C0152105","Hypertensive heart disease",37,11,"0.742036900172199","Diseases of the circulatory system"]
["C0740447","Diabetic peripheral neuropathy",37,11,"0.742036900172199"]
["C0741949","Cardiovascular Pathology",37,11,"0.6705414037844284"]
["C1096293","Macroangiopathy",37,11,"0.48674500112538505"]
["C1135196","Heart Failure, Diastolic",37,11,"-0.2529024267279328","Diseases of the circulatory system"]
["C1301700","Cardiovascular morbidity",37,11,"0.24729745995444893"]
["C1533172","Infantile nystagmus syndrome",37,11,"0.742036900172199"]
["C2349195","Acute Anterior Wall Myocardial Infarction",37,11,"0.742036900172199"]
["C0043124","West Nile Fever",1482,10,"0.8920888999971543","Certain infectious and parasitic diseases"]
["C0282312","Bubonic Plague",1482,10,"0.8940559888874083","Certain infectious and parasitic diseases"]
["C0404521","Infective vaginitis",1482,10,"0.8940559888874083","Diseases of the genitourinary system"]
["C0497169","hiv-infection/aids",1482,10,"0.6285070490394137"]
["C0751583","Encephalitis, West Nile Fever",1482,10,"0.8915316185351188","Certain infectious and parasitic diseases"]
["C0751584","West Nile Fever Meningitis",1482,10,"0.8940559888874083"]
["C0751585","West Nile Fever Meningoencephalitis",1482,10,"0.8940559888874083"]
["C0751586","West Nile Fever Myelitis",1482,10,"0.8940559888874083"]
["C0948192","Primary infection NOS",1482,10,"0.31706770862955735"]
["C2675864","DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder)",1482,10,"0.8940559888874083"]
["C0037023","Sialadenitis",1391,10,"0.9926755805495429","Diseases of the digestive system"]
["C0157843","Infective arthritis of shoulder region",1391,10,"0.9991842395001611"]
["C0157844","Unspecified infective arthritis involving upper arm",1391,10,"0.9991842395001611"]
["C0157845","Unspecified infective arthritis involving forearm",1391,10,"0.9991842395001611"]
["C0157846","Unspecified infective arthritis involving hand",1391,10,"0.9991842395001611"]
["C0157847","Unspecified infective arthritis, pelvic region and thigh",1391,10,"0.9991842395001611"]
["C0157848","Unspecified infective arthritis involving lower leg",1391,10,"0.9991842395001611"]
["C0157849","Unspecified infective arthritis, ankle and foot",1391,10,"0.9991842395001611"]
["C0162526","AIDS-Related Opportunistic Infections",1391,10,"0.9991842395001611"]
["C3151379","OKT4 EPITOPE DEFICIENCY",1391,10,"0.9991842395001611"]
["C0042842","Vitamin A Deficiency",1309,10,"-0.06260598941674932","Endocrine, nutritional and metabolic diseases"]
["C0152455","Keratomalacia",1309,10,"0.7743075307898749","Diseases of the eye and adnexa"]
["C0271271","Xerotic keratitis",1309,10,"0.7743075307898749"]
["C0406481","Comedonal acne",1309,10,"0.7743075307898749"]
["C0856901","Retinol Deficiency",1309,10,"0.7743075307898749"]
["C3151228","RETINITIS PIGMENTOSA 38 (disorder)",1309,10,"-0.1846262653818366"]
["C3553016","Peripheral retinal atrophy",1309,10,"0.5935669506391431"]
["C3554593","RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME",1309,10,"0.7743075307898749"]
["C4225330","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10",1309,10,"0.7743075307898749"]
["C4477027","Comedogenic acne",1309,10,"0.7743075307898749"]
["C0004712","Balo\\'s Concentric Sclerosis",1143,10,"0.8880149060978981"]
["C0007795","Diffuse Cerebral Sclerosis of Schilder",1143,10,"0.5820396073909369","Diseases of the nervous system"]
["C0205710","Alpers Syndrome (disorder)",1143,10,"0.8880149060978981","Diseases of the nervous system"]
["C1843852","SPINOCEREBELLAR ATAXIA WITH EPILEPSY",1143,10,"0.8880149060978981"]
["C1850303","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE",1143,10,"0.6212320864996954"]
["C3150914","MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)",1143,10,"0.8880149060978981"]
["C3683791","Ataxia Neuropathy Spectrum",1143,10,"0.8880149060978981"]
["C4225153","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1",1143,10,"0.8880149060978981"]
["C4225409","EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY",1143,10,"0.8880149060978981"]
["C4225440","EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY",1143,10,"0.8880149060978981"]
["C0085541","Epilepsy, Frontal Lobe",1038,10,"0.7635039684443805"]
["C0393671","Frontal Epilepsy, Benign, Childhood",1038,10,"0.7113562741373897"]
["C0393683","Epilepsy, Supplementary Motor",1038,10,"0.7113562741373897"]
["C0393684","Epilepsy, Cingulate",1038,10,"0.7113562741373897"]
["C0393688","Epilepsy, Opercular",1038,10,"0.7113562741373897"]
["C0751642","Epilepsy, Anterior Fronto-Polar",1038,10,"0.7113562741373897"]
["C0751643","Epilepsy, Orbito-Frontal",1038,10,"0.7113562741373897"]
["C1838049","Epilepsy, Nocturnal Frontal Lobe, Type 1",1038,10,"0.12028915682573223"]
["C1854335","Epilepsy, Nocturnal Frontal Lobe, Type 3",1038,10,"0.11825610529682665"]
["C3696898","Autosomal Dominant Nocturnal Frontal Lobe Epilepsy",1038,10,"0.3706891001071476"]
["C0079293","Epidermolysis Bullosa Acquisita",1011,10,"1.0","Diseases of the skin and subcutaneous tissue"]
["C0238115","Boerhaave syndrome",1011,10,"1.0"]
["C1275114","Epidermolysis Bullosa Pruriginosa",1011,10,"1.0"]
["C1843477","Epidermolysis Bullosa Simplex Superficialis",1011,10,"1.0"]
["C1843761","TOENAIL DYSTROPHY, ISOLATED",1011,10,"1.0"]
["C1851573","Transient bullous dermolysis of the newborn",1011,10,"1.0"]
["C2675683","Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage",1011,10,"1.0"]
["C4302547","Dystrophic epidermolysis bullosa nails only",1011,10,"1.0"]
["C4511056","Centripetalis recessive dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C4518087","Acral dystrophic epidermolysis bullosa",1011,10,"1.0"]
["C0016064","Fibrous Dysplasia, Monostotic",612,10,"0.8694170526648481","Diseases of the musculoskeletal system and connective tissue"]
["C0033806","Pseudohypoparathyroidism",612,10,"0.20871617834641756","Endocrine, nutritional and metabolic diseases"]
["C0033835","Pseudopseudohypoparathyroidism",612,10,"0.8795117884228904"]
["C0242292","McCune-Albright Syndrome",612,10,"0.858137083114479","Congenital malformations, deformations and chromosomal abnormalities"]
["C0334041","Osteoma cutis",612,10,"0.8694170526648481"]
["C0342198","Thyrotoxicosis due to pituitary thyroid hormone resistance",612,10,"0.8694170526648481"]
["C2931404","Albright\\'s hereditary osteodystrophy",612,10,"0.6592429021798056"]
["C2932716","Pseudohypoparathyroidism Type 1C",612,10,"0.8694170526648481"]
["C3494506","Pseudohypoparathyroidism, Type Ia",612,10,"0.7070873258715484"]
["C3697137","Fibrous dysplasia of bone with intramuscular myxoma",612,10,"0.8694170526648481"]
["C0026919","Mycobacterium Infections, Nontuberculous",523,10,"1.0","Certain infectious and parasitic diseases"]
["C0152491","Salmonella osteomyelitis",523,10,"1.0","Certain infectious and parasitic diseases"]
["C0694566","Atypical Mycobacterial Infection, Disseminated",523,10,"1.0"]
["C1112429","Interferon gamma receptor deficiency",523,10,"1.0"]
["C1608955","Mycobacterium abscessus Infection",523,10,"1.0"]
["C2930924","Interferon gamma, receptor 1, deficiency",523,10,"1.0"]
["C3266863","Atypical Mycobacteriosis, Familial",523,10,"1.0"]
["C4011949","IMMUNODEFICIENCY 27A",523,10,"1.0"]
["C4014863","IMMUNODEFICIENCY 27B",523,10,"1.0"]
["C4288927","IFN-gamma Receptor 1 Deficiency",523,10,"1.0"]
["C0003907","Arthus Reaction",485,10,"0.6000971160313326","Injury, poisoning and certain other consequences of external causes"]
["C0014534","Epididymitis",485,10,"0.4276040266714033","Diseases of the genitourinary system"]
["C0221026","X-linked agammaglobulinemia",485,10,"0.7040317281813655"]
["C0241932","X-linked hypogammaglobulinemia",485,10,"0.7401613957638927"]
["C0398764","Complement Factor D Deficiency",485,10,"-0.19548728776622476"]
["C0472813","X-linked agammaglobulinemia with growth hormone deficiency",485,10,"0.6535077525654484"]
["C0522274","Humoral immune defect",485,10,"0.7419300598689362"]
["C1843995","Enteroviral hepatitis",485,10,"0.7419300598689362"]
["C3806660","Enteroviral dermatomyositis syndrome",485,10,"0.7419300598689362"]
["C4280547","Infected joint",485,10,"0.7419300598689362"]
["C1300256","Thanatophoric dysplasia, type 1",252,10,"0.9998494245230437"]
["C1300257","Thanatophoric dysplasia, type 2",252,10,"0.999239852258784"]
["C1535953","Stenosis of foramen magnum",252,10,"0.9998494245230437"]
["C1834928","Cloverleaf skull micromelia thoracic dysplasia",252,10,"0.9998494245230437"]
["C1851152","SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS",252,10,"0.9998494245230437"]
["C1864436","Muenke Syndrome",252,10,"0.9998494245230437"]
["C1864852","CATSHL syndrome",252,10,"0.9998494245230437"]
["C1868678","THANATOPHORIC DYSPLASIA, TYPE I (disorder)",252,10,"0.9992549844184199"]
["C2677099","CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)",252,10,"0.9998494245230437"]
["C2931282","Skeletal dysplasia, San Diego type",252,10,"0.9998494245230437"]
["C0002963","Angina Pectoris, Variant",163,10,"0.7581173950476024","Diseases of the circulatory system"]
["C0018036","Hypertension, Goldblatt",163,10,"0.7581173950476024"]
["C0021845","Intestinal Perforation",163,10,"0.03238384849988696"]
["C0151636","Premature ventricular contractions",163,10,"0.5106636687436907","Diseases of the circulatory system"]
["C0162869","Aneurysm, Ruptured",163,10,"0.7581173950476024"]
["C0742343","Acute Chest Syndrome",163,10,"0.38344148119269883"]
["C0852036","Pregnancy associated hypertension",163,10,"-0.13236555590096996"]
["C1257763","Overnutrition",163,10,"0.7525548746269481"]
["C1442839","Hypervitaminosis D",163,10,"0.73652669314996","Endocrine, nutritional and metabolic diseases"]
["C2931193","Prinzmetal\\'s variant angina",163,10,"0.7581173950476024"]
["C0011389","Dental Plaque",64,10,"1.0"]
["C0265101","Carotid artery occlusion",64,10,"1.0"]
["C0520574","Cerebrovascular amyloidosis",64,10,"1.0"]
["C2751494","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT",64,10,"1.0"]
["C2751536","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED",64,10,"1.0"]
["C2931672","Cerebral hemorrhage with amyloidosis, hereditary, Dutch type",64,10,"1.0"]
["C3888307","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT",64,10,"1.0"]
["C3888308","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT",64,10,"1.0"]
["C3888309","CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT",64,10,"1.0"]
["C4025264","Recurrent cerebral hemorrhage",64,10,"1.0"]
["C0017923","Glycogen Storage Disease Type IV",1943,9,"0.9993425852388222","Endocrine, nutritional and metabolic diseases"]
["C1849722","Polyglucosan Body Disease, Adult Form",1943,9,"0.9999178147408435"]
["C1856301","GSD IV, Classic Hepatic",1943,9,"0.9999178147408435"]
["C1856302","GSD IV, Nonprogressive Hepatic",1943,9,"0.9999178147408435"]
["C1856303","GSD IV, Neuromuscular Form, Fatal Perinatal",1943,9,"0.9999178147408435"]
["C1856304","GSD IV, Neuromuscular Form, Congenital",1943,9,"0.9999178147408435"]
["C1856305","GSD IV, Neuromuscular Form, Childhood",1943,9,"0.9999178147408435"]
["C1856306","GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy",1943,9,"0.9999178147408435"]
["C2936914","Cirrhosis, familial, with deposition of abnormal glycogen",1943,9,"0.9999178147408435"]
["C0011882","Diabetic Neuropathies",1713,9,"0.7070476409930305"]
["C0271673","Symmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271674","Asymmetric Diabetic Proximal Motor Neuropathy",1713,9,"0.9647482344153133"]
["C0271678","Diabetic Mononeuropathy",1713,9,"0.9647482344153133"]
["C0271680","Diabetic Polyneuropathies",1713,9,"0.9647482344153133"]
["C0271685","Diabetic Amyotrophy",1713,9,"0.9647482344153133"]
["C0271686","Diabetic Autonomic Neuropathy",1713,9,"0.9647482344153133"]
["C0393835","Diabetic Asymmetric Polyneuropathy",1713,9,"0.9647482344153133"]
["C0751074","Diabetic Neuralgia",1713,9,"0.9647482344153133"]
["C0021171","Bloch Sulzberger syndrome",1512,9,"0.9873811110666031","Congenital malformations, deformations and chromosomal abnormalities"]
["C1845073","INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)",1512,9,"0.9882351159840738"]
["C1845117","Immunodeficiency without anhidrotic ectodermal dysplasia",1512,9,"0.9882351159840738"]
["C1845919","Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema",1512,9,"0.9882351159840738"]
["C1846006","Ectodermal dysplasia, hypohidrotic, with immune deficiency",1512,9,"0.9079549042323177"]
["C1846008","HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC",1512,9,"0.9882351159840738"]
["C1970879","ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)",1512,9,"0.9882351159840738"]
["C2930820","Incontinentia pigmenti, familial male-lethal type",1512,9,"0.9882351159840738"]
["C4025314","Atrophic, patchy alopecia",1512,9,"0.9882351159840738"]
["C0007852","Cervical Migraine Syndrome",1398,9,"0.7501617077033723"]
["C0018984","Hemicrania migraine",1398,9,"0.7501617077033723"]
["C0042331","Migraine Variant",1398,9,"0.7160055476090497"]
["C0149931","Migraine Disorders",1398,9,"0.5559143549632166","Diseases of the nervous system"]
["C0270858","Abdominal Migraine",1398,9,"0.7501617077033723","Diseases of the nervous system"]
["C0338489","Status Migrainosus",1398,9,"0.7501617077033723","Diseases of the nervous system"]
["C0521664","Acute Confusional Migraine",1398,9,"0.7501617077033723"]
["C0700438","Sick Headaches",1398,9,"0.7501617077033723"]
["C0744641","Intermittent migraine headaches",1398,9,"-0.32284017203017445"]
["C0865474","Parkinsonism or Parkinson\\'s disease NOS",1378,9,"1.0","Diseases of the nervous system"]
["C0865475","Idiopathic Parkinsonism or Parkinson\\'s disease",1378,9,"1.0","Diseases of the nervous system"]
["C0865476","Primary Parkinsonism or Parkinson\\'s disease",1378,9,"1.0","Diseases of the nervous system"]
["C1399358","Hemiparkinsonism",1378,9,"1.0","Diseases of the nervous system"]
["C1851957","Diffuse Lewy Body Disease with Gaze Palsy",1378,9,"1.0"]
["C1851958","Lewy Body Variant of Alzheimer Disease",1378,9,"1.0"]
["C1854182","PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)",1378,9,"1.0"]
["C1868595","PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)",1378,9,"1.0"]
["C1868596","Atypical Parkinson Disease",1378,9,"1.0"]
["C0018522","Hallermann\\'s Syndrome",1206,9,"0.9620203892948224"]
["C1861366","SYNDACTYLY, TYPE III",1206,9,"0.9863358600890064"]
["C1863093","Alopecia congenita keratosis palmoplantaris",1206,9,"0.9863358600890064"]
["C2749477","Oculodentodigital Dysplasia, Autosomal Recessive",1206,9,"0.9863358600890064"]
["C2931244","Craniometaphyseal dysplasia, autosomal recessive type",1206,9,"0.9181797186347005"]
["C2931577","Basaran Yilmaz syndrome",1206,9,"0.9863358600890064"]
["C3151468","PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1",1206,9,"0.9863358600890064"]
["C3275750","ATRIOVENTRICULAR SEPTAL DEFECT 3",1206,9,"0.9863358600890064"]
["C4479619","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3",1206,9,"0.9863358600890064"]
["C1306122","Oguchi disease",1122,9,"0.3824593538729675","Diseases of the eye and adnexa"]
["C1848172","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A",1122,9,"0.42919265933719747"]
["C1850362","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B",1122,9,"0.7481912787836372"]
["C1864877","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)",1122,9,"0.8242599745008896"]
["C3495587","Night Blindness, Congenital Stationary, Type 1A",1122,9,"0.755380015690686"]
["C3501847","Night blindness, congenital stationary, type 1",1122,9,"0.8170647027708303"]
["C3551052","Night blindness, stationary",1122,9,"0.7006168224170927"]
["C3711543","X-Linked Csnb",1122,9,"0.8151921667611092"]
["C4041558","Cone-rod synaptic disorder, congenital nonprogressive",1122,9,"0.7401219792475716"]
["C0022972","Lambert-Eaton Myasthenic Syndrome",1078,9,"0.9711044189592019","Diseases of the nervous system"]
["C0154674","Symptomatic torsion dystonia",1078,9,"0.9895425567163028"]
["C0154675","Fragments of torsion dystonia",1078,9,"0.9895425567163028"]
["C0393601","Idiopathic non-familial dystonia",1078,9,"0.9895425567163028","Diseases of the nervous system"]
["C0477373","Other forms of migraine",1078,9,"0.9895425567163028","Diseases of the nervous system"]
["C1720416","Episodic ataxia type 2 (disorder)",1078,9,"0.989164625824895"]
["C1832884","Hemiplegic migraine, familial type 1",1078,9,"0.940451864505543"]
["C1832903","MIGRAINE, SPORADIC HEMIPLEGIC",1078,9,"0.9737107402936381"]
["C4310716","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42",1078,9,"0.9895425567163028"]
["C0268594","Glutaric aciduria",1068,9,"0.3952708643162493","Endocrine, nutritional and metabolic diseases"]
["C0268596","Multiple Acyl Coenzyme A Dehydrogenase Deficiency",1068,9,"0.9126783317194248","Endocrine, nutritional and metabolic diseases"]
["C0546389","Hepatic periportal necrosis",1068,9,"0.9271356085439709"]
["C1856401","Glutaric Aciduria IIA",1068,9,"0.927135608543971"]
["C1856403","Glutaric Aciduria IIB",1068,9,"0.927135608543971"]
["C1856405","Glutaric Aciduria IIC",1068,9,"0.9272239327967644"]
["C3278154","GLUTARIC ACIDEMIA IIA",1068,9,"0.9134846171054567"]
["C3278155","GLUTARIC ACIDEMIA IIB",1068,9,"0.9105785627032866"]
["C3278156","GLUTARIC ACIDEMIA IIC",1068,9,"0.9154013645596661"]
["C1704380","Distal Renal Tubular Acidosis",1053,9,"0.7768200081374254"]
["C1861453","Pseudohyperkalemia Cardiff",1053,9,"0.6837302474041852"]
["C1862322","Ovalocytosis, Malaysian-Melanesian-Filipino Type",1053,9,"0.9317019562839636"]
["C1862323","Southeast Asian ovalocytosis",1053,9,"0.9297508291212638"]
["C1862324","Elliptocytosis 4",1053,9,"0.9317019562839636"]
["C1969038","RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder)",1053,9,"0.9317019562839636"]
["C1969039","Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology",1053,9,"0.9317019562839636"]
["C2675212","Spherocytosis, Type 4",1053,9,"0.9317019562839636"]
["C4022665","Isothenuria",1053,9,"0.9317019562839636"]
["C0020758","Congenital ichthyosis",995,9,"0.6108877260519419","Congenital malformations, deformations and chromosomal abnormalities"]
["C0079154","Congenital Nonbullous Ichthyosiform Erythroderma",995,9,"0.5189557281855458","Congenital malformations, deformations and chromosomal abnormalities"]
["C0079583","Ichthyosiform Erythroderma, Congenital",995,9,"0.3951190708262412"]
["C0239849","Harlequin Fetus",995,9,"0.533486565175772","Congenital malformations, deformations and chromosomal abnormalities"]
["C0598226","Harlequin type ichthyosis",995,9,"0.2038592026460194"]
["C1855789","Self-Healing Collodion Baby",995,9,"0.12663992095249743"]
["C3536797","Ichthyosis Congenita II",995,9,"0.6042233084815888"]
["C3543867","Collodion Fetus",995,9,"0.6035662432978885"]
["C4511230","Bathing suit ichthyosis",995,9,"0.4289803981348961"]
["C0080032","Pleural Effusion, Malignant",740,9,"0.5393299433927761","Diseases of the respiratory system"]
["C0742468","Central nervous system lesion",740,9,"0.6383404306425577"]
["C0850741","Smoker\\'s lung",740,9,"0.4987757851787712"]
["C1167791","Skin toxicity",740,9,"0.5207036422508302"]
["C1512127","HER2 gene amplification",740,9,"0.21983729850888975"]
["C1559154","Rash and Dermatitis Adverse Event Associated with Chemoradiation",740,9,"0.055944302781270626"]
["C3266262","Multiple Chronic Conditions",740,9,"0.2803455268777472"]
["C3539781","Progressive cGVHD",740,9,"0.2558970703111747"]
["C4015130","INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2",740,9,"0.6383404306425577"]
["C0270970","Reducing-body myopathy",734,9,"0.9800977569243934"]
["C2678015","Myopathy, Reducing Body, X-Linked, Childhood-Onset",734,9,"0.9800977569243934"]
["C2678027","Myopathy, Reducing Body, X-Linked, Early-Onset, Severe",734,9,"0.9800977569243934"]
["C2678055","MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)",734,9,"0.9800977569243934"]
["C2678061","SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT",734,9,"0.9798865074146669"]
["C2749106","Emery-Dreifuss Muscular Dystrophy 6, X-Linked",734,9,"0.9800977569243934"]
["C2931268","Scapuloperoneal myopathy",734,9,"0.6943409642551949"]
["C4225159","REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET",734,9,"0.9800977569243934"]
["C4225423","REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET",734,9,"0.9800977569243934"]
["C0025239","Melorheostosis",679,9,"0.9590810313320987"]
["C0029455","Osteopoikilosis (disorder)",679,9,"0.9598080857747804","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265514","Dermatofibrosis lenticularis disseminata",679,9,"0.9554246723112128"]
["C1833699","Osteopoikilosis, Isolated",679,9,"0.9590810313320987"]
["C2931505","Mixed sclerosing bone dystrophy",679,9,"0.9590810313320987"]
["C3149399","DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED",679,9,"0.9590810313320987"]
["C3149631","MELORHEOSTOSIS, ISOLATED",679,9,"0.9590810313320987"]
["C3149695","Melorheostosis with Osteopoikilosis",679,9,"0.9590810313320987"]
["C4305140","12q14 microdeletion syndrome",679,9,"0.7153201322878779"]
["C0158447","Idiopathic osteoporosis",572,9,"0.6786925250174957"]
["C0432252","Osteoporosis with pseudoglioma",572,9,"0.6786925250174957"]
["C0432273","Worth disease",572,9,"0.6786925250174957"]
["C1843323","Van Buchem disease type 2",572,9,"0.6786925250174957"]
["C1843330","OSTEOPETROSIS, AUTOSOMAL DOMINANT 1",572,9,"0.6786925250174957"]
["C1849792","Achromatopsia 3",572,9,"-0.6013901863439612"]
["C1866176","EXUDATIVE VITREORETINOPATHY 4 (disorder)",572,9,"0.6786925250174957"]
["C1866180","Horizontal pendular nystagmus",572,9,"0.4673117248178364"]
["C4021951","Vertebral body sclerosis",572,9,"0.6786925250174957"]
["C0266491","Neuronal heterotopia",538,9,"0.4903918513767565"]
["C0406726","Orofaciodigital syndrome 3",538,9,"0.23338045150104175"]
["C1419610","RP23 gene",538,9,"0.5574660662561307"]
["C1510460","Orofaciodigital Syndrome I",538,9,"0.14655967249456497"]
["C1846175","SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)",538,9,"0.5574660662561307"]
["C1858695","Chudley-Mccullough syndrome",538,9,"0.0718617858358444"]
["C2749019","JOUBERT SYNDROME 10 (disorder)",538,9,"0.5574660662561307"]
["C2931426","Orofaciodigital syndrome type1",538,9,"0.5574660662561307"]
["C3554657","LISSENCEPHALY 5",538,9,"-0.021094451145836367"]
["C0265251","Oto-Palato-digital syndrome type 1",489,9,"0.7474420190130919"]
["C1846129","Terminal Osseous Dysplasia and Pigmentary Defects",489,9,"0.8633932514975425"]
["C1848213","Periventricular Heterotopia, X-Linked",489,9,"0.7860784518169665"]
["C1848214","Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia",489,9,"0.8633932514975425"]
["C1868720","Periventricular Nodular Heterotopia",489,9,"0.4620614329198002"]
["C2746068","Congenital idiopathic intestinal pseudoobstruction",489,9,"0.8633932514975425"]
["C2748918","Otopalatodigital Spectrum Disorder",489,9,"0.8633932514975425"]
["C2748919","Frontootopalatodigital Osteodysplasia",489,9,"0.8633932514975425"]
["C3806579","CONGENITAL SHORT BOWEL SYNDROME, X-LINKED",489,9,"0.8633932514975425"]
["C0010035","Hereditary corneal dystrophy",469,9,"0.9420761249132962","Diseases of the eye and adnexa"]
["C0014008","Empty Sella Syndrome",469,9,"0.9320678887561975"]
["C0018179","Granular Dystrophy, Corneal",469,9,"0.6185577850794447","Diseases of the eye and adnexa"]
["C0018245","Groenouw\\'s Dystrophies",469,9,"0.9420761249132962"]
["C0038457","Stromal Dystrophies, Corneal",469,9,"0.9420761249132962"]
["C0271574","Empty Sella Syndrome, Primary",469,9,"0.9420761249132962"]
["C0751097","Empty Sella Syndrome, Secondary",469,9,"0.9420761249132962"]
["C1835677","Keratoconus 1",469,9,"0.9149467475944513"]
["C3280099","CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME",469,9,"0.9420761249132962"]
["C0272005","Hemoglobin Bart\\'s hydrops syndrome",216,9,"0.9471710886523605","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0796003","Juberg-Marsidi syndrome",216,9,"0.9615459918125817"]
["C0796159","Mental retardation Smith Fineman Myers type",216,9,"0.9615459918125817"]
["C1845055","ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",216,9,"0.9591167723581177"]
["C1845298","MENTAL RETARDATION, X-LINKED 52",216,9,"0.1610886461493762"]
["C2873754","Severe alpha thalassemia",216,9,"0.9615459918125817","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2873755","Triple gene defect alpha thalassemia",216,9,"0.9615459918125817","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3161173","Hemoglobin H Constant Spring",216,9,"0.9615459918125817","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3161175","Hydrops fetalis due to alpha thalassemia",216,9,"0.9615459918125817","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0002882","Anemia, Hemolytic, Congenital Nonspherocytic",166,9,"0.3540717791548304"]
["C0015702","Favism",166,9,"0.9068857450061543","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0031306","Phagocyte Bactericidal Dysfunction",166,9,"0.9068857450061543"]
["C0272132","Drug-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0472790","Chronic non-spherocytic hemolytic anemia",166,9,"0.9068857450061543"]
["C0520572","Enzymopathy",166,9,"0.9007307631074732"]
["C2720289","ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY",166,9,"0.8872843038674663"]
["C2939465","Deficiency of glucose-6-phosphate dehydrogenase",166,9,"0.8874408504884824"]
["C4021648","Fava bean-induced hemolytic anemia",166,9,"0.9068857450061543"]
["C0000880","Acanthamoeba Keratitis",93,9,"0.9238516356314508"]
["C0036685","Septicaemia due to gram-negative organism, unspecified",93,9,"0.533549232007681","Certain infectious and parasitic diseases"]
["C0262380","Asymptomatic bacteriuria",93,9,"0.7177161229130913"]
["C0744471","Gram-negative bacteremia",93,9,"0.9238516356314508"]
["C1864267","Endotoxin Hyporesponsiveness",93,9,"0.9238516356314508"]
["C1969108","Macular Degeneration, Age-Related, 10",93,9,"0.9238516356314508"]
["C2350529","Pulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C2350530","Bronchopulmonary Aspergillosis",93,9,"0.9238516356314508"]
["C4049883","Obstructive Ureterocele",93,9,"0.9238516356314508"]
["C0024140","Lupus Erythematosus, Subacute Cutaneous",55,9,"0.7340179452623813","Diseases of the skin and subcutaneous tissue"]
["C0031903","Pigeon Breeder\\'s Lung",55,9,"0.9579441245933421","Diseases of the respiratory system"]
["C0206178","Cytomegalovirus Retinitis",55,9,"0.9579441245933421"]
["C0276622","Acute viral hepatitis",55,9,"0.9579441245933421","Certain infectious and parasitic diseases"]
["C0340354","Q fever endocarditis",55,9,"0.9579441245933421"]
["C0678201","Terminal Ileitis",55,9,"0.9579441245933421","Diseases of the digestive system"]
["C2348101","Destructive Arthritis",55,9,"0.9579441245933421"]
["C3826604","Celiac disease in children",55,9,"0.9579441245933421"]
["C3890941","Acute Motor Axonal Neuropathy",55,9,"0.9579441245933421"]
["C0271355","Abducens Nerve Diseases",2,9,"1.0"]
["C1838492","SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)",2,9,"1.0"]
["C1847406","Digital Arthropathy-Brachydactyly, Familial",2,9,"1.0"]
["C1853710","HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)",2,9,"1.0"]
["C2079540","Charcot-Marie-Tooth disease, Type 2C",2,9,"1.0"]
["C3159322","SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE",2,9,"1.0"]
["C3711162","Metatropic Dysplasia Type 1",2,9,"1.0"]
["C4024611","Nonprogressive muscular atrophy",2,9,"1.0"]
["C4025381","Osteoarthritis of the small joints of the hand",2,9,"1.0"]
["C0036161","Sandhoff Disease",2103,8,"0.9871925860870976","Endocrine, nutritional and metabolic diseases"]
["C0751489","Adult Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751490","Infantile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C0751491","Juvenile Sandhoff Disease",2103,8,"0.9981921566618742"]
["C1849320","Sandhoff Disease, Adult Type",2103,8,"0.9981921566618742"]
["C1849321","Sandhoff Disease, Juvenile Type",2103,8,"0.9981921566618742"]
["C1849322","Sandhoff Disease, Infantile Type",2103,8,"0.9981921566618742"]
["C2713499","Total Hexosaminidase Deficiency",2103,8,"0.9981921566618742"]
["C0154778","Myopia, Degenerative",2035,8,"0.012251863619428949","Diseases of the eye and adnexa"]
["C0206307","Canavan Disease",2035,8,"0.8321947876439797"]
["C0751663","Canavan Disease, Familial Form",2035,8,"0.8625395369633555"]
["C0751664","Canavan Disease, Neonatal",2035,8,"0.8737170223550509"]
["C0751665","Canavan Disease, Sporadic Form",2035,8,"0.8737170223550509"]
["C0751666","Canavan Disease, Infantile",2035,8,"0.8737170223550509"]
["C0751667","Canavan Disease, Juvenile",2035,8,"0.8737170223550509"]
["C3542499","Aminoacylase 2 Deficiency",2035,8,"0.8737170223550509"]
["C0017922","Glycogen Storage Disease Type III",1944,8,"0.9357500900867354","Endocrine, nutritional and metabolic diseases"]
["C1968739","Glycogen Storage Disease IIIA",1944,8,"0.9933621163568894"]
["C1968740","Glycogen Storage Disease IIIB",1944,8,"0.9933621163568894"]
["C1968741","Glycogen Storage Disease IIIC",1944,8,"0.9933621163568894"]
["C1968742","Glycogen Storage Disease IIID",1944,8,"0.9933621163568894"]
["C2936915","Amylo-1,6-glucosidase deficiency",1944,8,"0.9933621163568894"]
["C3695006","GLYCOGEN STORAGE DISEASE, TYPE IIIb",1944,8,"0.9933621163568894"]
["C3695007","GLYCOGEN STORAGE DISEASE, TYPE IIIa",1944,8,"0.9933621163568894"]
["C0238281","Middle Cerebral Artery Syndrome",1861,8,"0.9446927714047687","Diseases of the nervous system"]
["C0740376","Middle Cerebral Artery Thrombosis",1861,8,"0.9446927714047687"]
["C0740392","Infarction, Middle Cerebral Artery",1861,8,"0.5927932194038797"]
["C0751845","Middle Cerebral Artery Embolus",1861,8,"0.9446927714047687"]
["C0751846","Left Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0751847","Embolic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751848","Thrombotic Infarction, Middle Cerebral Artery",1861,8,"0.9446927714047687"]
["C0751849","Right Middle Cerebral Artery Infarction",1861,8,"0.9446927714047687"]
["C0024591","Malignant hyperpyrexia due to anesthesia",1732,8,"0.8286985703814619","Injury, poisoning and certain other consequences of external causes"]
["C0751951","Central Core Myopathy (disorder)",1732,8,"0.8255752863118219","Diseases of the nervous system"]
["C1840365","King Denborough syndrome",1732,8,"0.9533484815040281"]
["C1850674","MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)",1732,8,"0.9426044949715977"]
["C1861751","Minicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861752","Multicore Myopathy, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C1861753","Multiminicore Disease, Moderate, with Hand Involvement",1732,8,"0.9533484815040281"]
["C2674259","NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)",1732,8,"0.9533484815040281"]
["C0037899","Sphingolipidoses",1697,8,"0.7169491968775693","Endocrine, nutritional and metabolic diseases"]
["C0268262","Metachromatic Leukodystrophy due to Saposin B Deficiency",1697,8,"0.7169491968775693"]
["C1864651","GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY",1697,8,"0.7169491968775693"]
["C1867717","SAPOSIN D (disease)",1697,8,"0.7169491968775693"]
["C2673266","KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY",1697,8,"0.7169491968775693"]
["C2673635","Combined Saposin Deficiency",1697,8,"0.7169491968775693"]
["C3280314","Combined Malonic and Methylmalonic Aciduria",1697,8,"-0.23529041345439614"]
["C4023499","Generalized clonic seizures",1697,8,"0.6117026369525251"]
["C0221061","Behr syndrome",1520,8,"0.8982322948388008"]
["C0338508","Optic Atrophy, Autosomal Dominant",1520,8,"0.7811387384073779"]
["C0730309","Inherited optic neuropathy",1520,8,"0.8982322948388008"]
["C1258666","Myxoid cyst",1520,8,"0.13691407769625316","Diseases of the musculoskeletal system and connective tissue"]
["C1852267","OPTIC ATROPHY 1 AND DEAFNESS",1520,8,"0.8982322948388008"]
["C3276549","OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY",1520,8,"0.8969385499601228"]
["C4225163","MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)",1520,8,"0.8982322948388008"]
["C4275164","Autosomal dominant optic atrophy plus syndrome",1520,8,"0.8982322948388008"]
["C0751776","Atypical Inclusion-Body Disease",1484,8,"0.7621691076824937"]
["C0751777","Familial Progressive Myoclonic Epilepsy",1484,8,"0.7621691076824937"]
["C0751778","Myoclonic Epilepsies, Progressive",1484,8,"0.7065093991195834"]
["C0751779","Action Myoclonus-Renal Failure Syndrome",1484,8,"0.6416655202717283"]
["C0751780","Biotin-Responsive Encephalopathy",1484,8,"0.7621691076824937"]
["C0751781","Dentatorubral-Pallidoluysian Atrophy",1484,8,"0.7049757231816715"]
["C0751782","May-White Syndrome",1484,8,"0.7621691076824937"]
["C4021759","Generalized myoclonic seizures",1484,8,"-0.12495320563348299"]
["C0008373","Cholesteatoma",1283,8,"-0.15545252739245355","Diseases of the ear and mastoid process"]
["C0265234","Branchio-Oto-Renal Syndrome",1283,8,"0.32868895541348697"]
["C0376524","Branchio-Oculo-Facial Syndrome",1283,8,"-0.21518455895815086"]
["C1865143","BRANCHIOOTIC SYNDROME 1",1283,8,"0.002523954174933355"]
["C1970479","Branchiootorenal Syndrome 2",1283,8,"0.370317925827299"]
["C3551443","ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT",1283,8,"0.12954276709962123"]
["C3714941","OTOFACIOCERVICAL SYNDROME 1",1283,8,"-0.35773093630492153"]
["C4023411","Hemifacial hypoplasia",1283,8,"0.13737215279501558"]
["C1832230","Peroxisome Biogenesis Disorder, Complementation Group 4",1186,8,"0.7408748471446291"]
["C1832231","Peroxisome Biogenesis Disorder, Complementation Group 6",1186,8,"0.7408748471446291"]
["C1832232","Peroxisome Biogenesis Disorder, Complementation Group C",1186,8,"0.7382108113859798"]
["C1849094","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3",1186,8,"0.6326298558626209"]
["C3553538","BROWN-VIALETTO-VAN LAERE SYNDROME 2",1186,8,"-0.08228834986526815"]
["C3553936","PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)",1186,8,"0.7408748471446291"]
["C3553937","PEROXISOME BIOGENESIS DISORDER 4B",1186,8,"0.7408748471446291"]
["C4225267","HEIMLER SYNDROME 2",1186,8,"0.7408748471446291"]
["C1415817","HETEROTAXY, VISCERAL, 2, AUTOSOMAL",1133,8,"0.35958686099358655"]
["C1844020","HETEROTAXY, VISCERAL, 1, X-LINKED",1133,8,"0.613647219668846"]
["C1853444","Heterotaxy, Visceral, 3, Autosomal",1133,8,"0.5515432780296606"]
["C2931228","VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS",1133,8,"0.1539267239679174"]
["C3151057","HETEROTAXY, VISCERAL, 4, AUTOSOMAL",1133,8,"0.224354478906329"]
["C3151867","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED",1133,8,"0.6195813479742105"]
["C3553676","HETEROTAXY, VISCERAL, 6, AUTOSOMAL",1133,8,"0.47651770898072154"]
["C4274029","Biliary atresia with splenic malformation syndrome",1133,8,"-0.4702507365651105"]
["C0037768","Spasmophilia",1012,8,"0.7250818753428685"]
["C0039621","Tetany",1012,8,"-0.16127708372692812","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0270224","Tetany, Neonatal",1012,8,"0.7250818753428685","Certain conditions originating in the perinatal period"]
["C0917812","Tetanilla",1012,8,"0.7250818753428685"]
["C2673648","Hypomagnesemia 4, Renal",1012,8,"0.01021116141334679"]
["C3151295","HYPOMAGNESEMIA 6, RENAL",1012,8,"0.7250818753428685"]
["C4225333","HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION",1012,8,"0.7250818753428685"]
["C4510731","Familial primary hypomagnesemia with normocalciuria and normocalcemia",1012,8,"0.6372231128137914"]
["C0002876","Congenital dyserythropoietic anemia",880,8,"0.6077407407960728","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0014800","Erythroid hyperplasia",880,8,"0.03757468942048783"]
["C0271933","Congenital dyserythropoietic anemia, type I",880,8,"0.6222003860944513"]
["C0271934","Congenital dyserythropoietic anemia, type III",880,8,"0.5779574393757182"]
["C0678199","Anemia of inadequate production",880,8,"-0.1460776513473016"]
["C1306589","Congenital dyserythropoietic anemia, type II",880,8,"0.5187429401892393"]
["C4025183","Macrocytic dyserythropoietic anemia",880,8,"0.34625443344394524"]
["C4225179","COWDEN SYNDROME 7",880,8,"0.05101840833974681"]
["C0024814","Marinesco-Sjogren syndrome",871,8,"0.8203184201313121"]
["C0033132","Cerebellar Degenerations, Primary",871,8,"0.9201621109153189"]
["C0037952","Spinocerebellar Degeneration",871,8,"0.9185757796259643"]
["C0270749","Marie Cerebellar Ataxia",871,8,"0.9201621109153189","Diseases of the nervous system"]
["C0270755","Corticostriatal-Spinal Degeneration",871,8,"0.9201621109153189"]
["C0393519","Cerebellar Ataxia, Early Onset",871,8,"0.9083030318022156","Diseases of the nervous system"]
["C0393524","Cerebellar Ataxia, Late Onset",871,8,"0.9201621109153189","Diseases of the nervous system"]
["C4024710","Cerebellar cortical atrophy",871,8,"-0.02246949520390459"]
["C1835178","MACULAR DYSTROPHY, ATYPICAL VITELLIFORM",794,8,"0.9807450904749156"]
["C1860406","VITREORETINOCHOROIDOPATHY (disorder)",794,8,"0.99720921350546"]
["C2674009","Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma",794,8,"0.99720921350546"]
["C2675055","BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder)",794,8,"0.99720921350546"]
["C2678493","BESTROPHINOPATHY",794,8,"0.99720921350546"]
["C2750789","RETINITIS PIGMENTOSA, CONCENTRIC (disorder)",794,8,"0.99720921350546"]
["C3888099","Autosomal dominant vitreoretinochoroidopathy",794,8,"0.99720921350546"]
["C3888198","BESTROPHINOPATHY, AUTOSOMAL RECESSIVE",794,8,"0.99720921350546"]
["C1320640","Peripheral degeneration of retina",789,8,"0.7738615683297322","Diseases of the eye and adnexa"]
["C1837029","Macular Dystrophy, Butterfly-Shaped Pigmentary, 2",789,8,"0.2913636212590398"]
["C1842475","Retinitis Pigmentosa 7",789,8,"0.7079079580996891"]
["C1868569","Patterned dystrophy of retinal pigment epithelium",789,8,"0.6979186189155734"]
["C2675552","Retinitis Pigmentosa 7, Digenic",789,8,"0.7738615683297322"]
["C2751290","CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2",789,8,"0.7738615683297322"]
["C4024776","Reticular retinal dystrophy",789,8,"0.7738615683297322"]
["C4509881","Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus",789,8,"0.7738615683297322"]
["C0008043","Chiari-Frommel Syndrome",755,8,"-0.004081915484912758"]
["C0015951","Fetal Resorption",755,8,"0.4048485648837485"]
["C0020514","Hyperprolactinemia",755,8,"0.2759085450125295","Endocrine, nutritional and metabolic diseases"]
["C0034040","Puerperal Disorders",755,8,"0.6139125893059771"]
["C0751230","Hypothalamic Dysfunction Syndromes",755,8,"0.6139125893059771"]
["C1449720","Adolescent Gynecomastia",755,8,"0.6139125893059771"]
["C1449721","Infant Gynecomastia",755,8,"0.6139125893059771","Certain conditions originating in the perinatal period"]
["C3665358","Galactorrhea",755,8,"0.4780361967103779"]
["C0085131","Gangliosidosis GM1",599,8,"0.9678805452165683","Endocrine, nutritional and metabolic diseases"]
["C0086652","Mucopolysaccharidosis type IVB",599,8,"0.7893357411891418","Endocrine, nutritional and metabolic diseases"]
["C0268271","Gangliosidosis, Generalized GM1, Type 1 (disorder)",599,8,"0.9824472859306677"]
["C0268272","Gangliosidosis, Generalized GM1, Type 2",599,8,"0.9824472859306677"]
["C0268273","Gangliosidosis, Generalized GM1, Type 3",599,8,"0.9824472859306677"]
["C1968746","Gangliosidosis, Generalized GM1, Late-Infantile Type",599,8,"0.9824472859306677"]
["C1968748","Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement",599,8,"0.9824472859306677"]
["C2718068","beta-Galactosidase Deficiency",599,8,"0.9824472859306677"]
["C0265344","Donohue Syndrome",477,8,"0.9963272794794978"]
["C0271689","Insulin Receptor, Defect in",477,8,"0.9994747439888062"]
["C0271690","Type 2 diabetes mellitus with acanthosis nigricans",477,8,"0.9994747439888062"]
["C0271695","Rabson-Mendenhall Syndrome",477,8,"0.9994747439888062"]
["C0342278","Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans",477,8,"0.9994747439888062"]
["C0342336","Insulin resistance - type A",477,8,"0.9994747439888062"]
["C1864952","Hyperinsulinemic Hypoglycemia, Familial, 5",477,8,"0.9994747439888062"]
["C1960636","Dysglycemia",477,8,"0.9994747439888062"]
["C0017412","Genital Diseases, Male",439,8,"0.9202045795626449","Diseases of the genitourinary system"]
["C0268301","Reifenstein Syndrome",439,8,"0.9139354555773221","Endocrine, nutritional and metabolic diseases"]
["C0752353","Atrophy, Muscular, Spinobulbar",439,8,"0.8830366517407603"]
["C0860159","Partial androgen resistance",439,8,"0.9202045795626449"]
["C1839259","Bulbo-Spinal Atrophy, X-Linked",439,8,"0.6671661436653933"]
["C2713546","Androgen Receptor Deficiency",439,8,"0.9202045795626449"]
["C2931395","Bulbospinal neuronopathy, X-linked recessive",439,8,"0.9202045795626449"]
["C2931847","Type I familial incomplete male pseudohermaphroditism",439,8,"0.9202045795626449"]
["C0011848","Diabetes Insipidus",409,8,"0.6084695505834085","Endocrine, nutritional and metabolic diseases"]
["C0013390","Dysmenorrhea",409,8,"0.08185048481770882","Diseases of the genitourinary system"]
["C0021141","Inappropriate ADH Syndrome",409,8,"0.7895683213028573","Endocrine, nutritional and metabolic diseases"]
["C0037019","Shy-Drager Syndrome",409,8,"0.49090034929725124"]
["C0342394","Familial central diabetes insipidus",409,8,"0.7895683213028573"]
["C0687720","Central Diabetes Insipidus",409,8,"0.7475880940383514"]
["C0857122","Hyponatraemic",409,8,"0.7895683213028573"]
["C1136135","Water Stress",409,8,"0.7895683213028573"]
["C0206081","Hyperandrogenism",378,8,"0.49513035844595227"]
["C0340542","Sporadic primary pulmonary hypertension",378,8,"0.9125811377145642"]
["C0340544","Pulmonary arterial hypertension induced by drug",378,8,"0.9125811377145642"]
["C2939447","Right ventricular failure",378,8,"0.9125811377145642","Diseases of the circulatory system"]
["C3697119","Pulmonary arterial hypertension associated with congenital heart disease",378,8,"0.9125811377145642"]
["C4020753","Intimal fibrosis",378,8,"0.9125811377145642"]
["C4023403","Arterial intimal fibrosis",378,8,"0.9125811377145642"]
["C4025217","Pulmonary aterial intimal fibrosis",378,8,"0.9125811377145642"]
["C0016436","Folliculitis",376,8,"0.5053871022777267"]
["C1275091","Ichthyosis follicularis with alopecia and photophobia (IFAP)",376,8,"0.8949262044208534"]
["C1839988","Ichthyosis follicularis atrichia photophobia syndrome",376,8,"0.8949262044208534"]
["C2748527","KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)",376,8,"0.8949262044208534"]
["C2936846","Scarring alopecia",376,8,"0.8949262044208534","Diseases of the skin and subcutaneous tissue"]
["C3502469","Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia",376,8,"0.8949262044208534"]
["C3806745","PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED",376,8,"0.8949262044208534"]
["C3887525","Keratosis Follicularis Spinulosa Decalvans, X-Linked",376,8,"0.7880165727600934"]
["C0079297","Epidermolysis Bullosa Progressiva",354,8,"0.913537232376121"]
["C0079301","Junctional Epidermolysis Bullosa",354,8,"0.9045256557658822"]
["C0079683","Herlitz Disease",354,8,"0.7360886497994255","Congenital malformations, deformations and chromosomal abnormalities"]
["C0268374","Adult junctional epidermolysis bullosa (disorder)",354,8,"0.8869994016805661"]
["C2608084","EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)",354,8,"0.8603971037152934"]
["C2673609","Epidermolysis bullosa inversa dystrophica",354,8,"0.8709839285228019"]
["C2673610","JEB-I",354,8,"0.843119422344277"]
["C4021730","Junctional split",354,8,"0.5710134342670009"]
["C0006705","Calcium Metabolism Disorders",330,8,"0.8344257762932521","Endocrine, nutritional and metabolic diseases"]
["C0342342","Idiopathic Hypoparathyroidism",330,8,"0.8829785322146788","Endocrine, nutritional and metabolic diseases"]
["C0342637","Hypocalciuric hypercalcemia, familial, type 1",330,8,"0.8194862211047983"]
["C0345406","Neonatal hyperparathyroidism",330,8,"0.875290707550721"]
["C1809471","Familial benign hypercalcemia",330,8,"0.2564165647373486","Endocrine, nutritional and metabolic diseases"]
["C1832612","Hypocalcemia, Autosomal Dominant, with Bartter Syndrome",330,8,"0.875290707550721"]
["C1832615","HYPERPARATHYROIDISM, NEONATAL SEVERE",330,8,"0.8935081054677261"]
["C1840348","Hypocalciuric Hypercalcemia, Acquired",330,8,"0.875290707550721"]
["C0014550","Myoclonic Epilepsy",323,8,"0.929047905660524"]
["C0338478","Idiopathic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0338479","Symptomatic Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C0393695","Early Childhood Epilepsy, Myoclonic",323,8,"0.948420157376199"]
["C0393702","Myoclonic Astatic Epilepsy",323,8,"0.7046903013229593","Diseases of the nervous system"]
["C0393703","Myoclonic Absence Epilepsy",323,8,"0.948420157376199","Diseases of the nervous system"]
["C0438414","Myoclonic Encephalopathy",323,8,"0.948420157376199"]
["C0751120","Benign Infantile Myoclonic Epilepsy",323,8,"0.948420157376199"]
["C1846385","FOCAL CORTICAL DYSPLASIA OF TAYLOR",290,8,"0.9797735514561366"]
["C1846386","Focal Cortical Dysplasia of Taylor, Type IIa",290,8,"0.996806704898052"]
["C1846388","CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY",290,8,"0.996806704898052"]
["C1846389","Focal Cortical Dysplasia of Taylor, Type IIb",290,8,"0.9968067048980521"]
["C4478700","FOCAL CORTICAL DYSPLASIA, TYPE IIA",290,8,"0.996806704898052"]
["C4478701","FOCAL CORTICAL DYSPLASIA, TYPE IIB",290,8,"0.996806704898052"]
["C4479708","FCD IIA",290,8,"0.996806704898052"]
["C4479709","FCD IIB",290,8,"0.996806704898052"]
["C0032326","Pneumothorax",280,8,"0.8223784713035205","Diseases of the respiratory system"]
["C0149781","Spontaneous pneumothorax",280,8,"0.9541762804677217","Diseases of the respiratory system"]
["C0264558","Tension Pneumothorax",280,8,"0.9728018405562604"]
["C0346010","Multiple fibrofolliculomas",280,8,"0.9695390905825654"]
["C0546483","Lung cyst",280,8,"0.9728018405562604"]
["C1860850","Familial multiple trichodiscomas",280,8,"0.9728018405562604"]
["C1868193","PNEUMOTHORAX, PRIMARY SPONTANEOUS",280,8,"0.9720243119326936","Diseases of the respiratory system"]
["C4275252","Familial spontaneous pneumothorax",280,8,"0.9728018405562604"]
["C0004698","Balkan Nephropathy",233,8,"0.9508379990282759","Diseases of the genitourinary system"]
["C0014818","Erythroplasia",233,8,"0.9921988893938744","Neoplasms"]
["C0043037","Common wart",233,8,"0.9921988893938744","Certain infectious and parasitic diseases"]
["C0085694","Chronic cholecystitis",233,8,"0.9921988893938744","Diseases of the digestive system"]
["C0747742","polyp benign",233,8,"0.9921988893938744"]
["C1835398","LI-FRAUMENI SYNDROME 1",233,8,"0.9921988893938744"]
["C2675080","Li-Fraumeni-Like Syndrome",233,8,"0.9887935880224613"]
["C4049993","Aristolochic Acid Nephropathy",233,8,"0.9921988893938744"]
["C0153252","Systemic candidiasis",192,8,"0.505143674358917","Certain infectious and parasitic diseases"]
["C0269084","Vulvar Vestibulitis",192,8,"0.8612264497413841","Diseases of the genitourinary system"]
["C0746883","Febrile Neutropenia",192,8,"0.35346716001502215"]
["C1320214","Invasive Streptococcus pneumoniae disease",192,8,"0.6468126028250947"]
["C1609535","Invasive Candidiasis",192,8,"0.8612264497413841"]
["C3280586","Mannose-Binding Protein Deficiency",192,8,"0.860582122717315"]
["C3825879","Otitis media in children",192,8,"0.8612264497413841"]
["C3826128","Infection in children",192,8,"0.8612264497413841"]
["C0003081","Anisometropia",173,8,"0.8200369611986975","Diseases of the eye and adnexa"]
["C0030517","Parathyroid Diseases",173,8,"0.7276449660258347","Endocrine, nutritional and metabolic diseases"]
["C0040046","Thrombophlebitis",173,8,"0.0255402408450929"]
["C0265326","Bannayan-Riley-Ruvalcaba Syndrome",173,8,"0.7673040548656176","Endocrine, nutritional and metabolic diseases"]
["C1834711","CEREBELLOPARENCHYMAL DISORDER VI",173,8,"0.8200369611986975"]
["C1834712","Cerebellar Granule Cell Hypertrophy and Megalencephaly",173,8,"0.8200369611986975"]
["C1854416","MACROCEPHALY/AUTISM SYNDROME",173,8,"0.7562546663929541"]
["C1866398","Proteus-Like Syndrome (disorder)",173,8,"0.7869597350261828"]
["C0030343","Panuveitis",69,8,"0.9384923708493668","Diseases of the eye and adnexa"]
["C0036118","Salmonella Infections, Animal",69,8,"0.9384923708493668"]
["C0729552","Genital infection",69,8,"0.9384923708493668"]
["C1328252","Mucocutaneous leishmaniasis",69,8,"0.9328875046648023","Certain infectious and parasitic diseases"]
["C1609538","Latent Tuberculosis",69,8,"0.55470998528803"]
["C2350875","Constrictive Bronchiolitis",69,8,"0.8134100440183278"]
["C2350876","Bronchiolitis, Exudative",69,8,"0.9384923708493668"]
["C2350988","Bronchiolitis, Proliferative",69,8,"0.9384923708493668"]
["C0206064","Microvascular Angina",20,8,"0.9317240164920229"]
["C0242129","Thrombotic stroke",20,8,"0.9591944520707146"]
["C0268611","Arakawa syndrome 2",20,8,"0.9591944520707146"]
["C0852077","Blood Coagulation Disorders, Inherited",20,8,"0.9381778310931519"]
["C1856058","HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY",20,8,"0.9591944520707146"]
["C1856059","Mthfr Deficiency, Thermolabile Type",20,8,"0.9591944520707146"]
["C1856061","Methylenetetrahydrofolate reductase deficiency",20,8,"0.9591944520707146","Endocrine, nutritional and metabolic diseases"]
["C3495426","Homocysteinemia",20,8,"0.8035962259935231"]
["C0038220","Status Epilepticus",1931,7,"0.7696057048983966"]
["C0270823","Petit mal status",1931,7,"0.9646604602739728"]
["C0311335","Grand Mal Status Epilepticus",1931,7,"0.9646604602739728"]
["C0393734","Complex Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751522","Status Epilepticus, Subclinical",1931,7,"0.9646604602739728"]
["C0751523","Non-Convulsive Status Epilepticus",1931,7,"0.9646604602739728"]
["C0751524","Simple Partial Status Epilepticus",1931,7,"0.9646604602739728"]
["C0016719","Friedreich Ataxia",1906,7,"0.7699184391328286"]
["C0393520","Harding ataxia",1906,7,"0.7729275698293496","Diseases of the nervous system"]
["C0742191","Cervical spinal cord atrophy",1906,7,"0.7729275698293496"]
["C1847416","FRIEDREICH ATAXIA WITH RETAINED REFLEXES",1906,7,"0.7729275698293496"]
["C1856689","FRIEDREICH ATAXIA 1",1906,7,"0.7443573392270402"]
["C3273225","Hereditary Neurodegenerative Disorder",1906,7,"0.595812236416077"]
["C4479491","LOPES-MACIEL-RODAN SYNDROME",1906,7,"-0.2961412440383463"]
["C0472381","Posterior Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751019","Carotid Circulation Transient Ischemic Attack",1831,7,"0.9824040821529827"]
["C0751020","Transient Ischemic Attack, Vertebrobasilar Circulation",1831,7,"0.9824040821529827"]
["C0751021","Crescendo Transient Ischemic Attacks",1831,7,"0.9824040821529827"]
["C0751022","Brain Stem Ischemia, Transient",1831,7,"0.9824040821529827"]
["C0917805","Transient Cerebral Ischemia",1831,7,"0.8978353523186026","Diseases of the nervous system"]
["C1527335","Transient Ischemic Attack, Anterior Circulation",1831,7,"0.9824040821529827"]
["C0348447","Other specified diabetes mellitus",1721,7,"1.0"]
["C0432217","Wolcott-Rallison syndrome",1721,7,"1.0"]
["C0473524","Postpancreatectomy hypoinsulinemia",1721,7,"1.0"]
["C2874124","Diabetes mellitus due to genetic defect in insulin action",1721,7,"1.0"]
["C2874125","Diabetes mellitus due to genetic defect in beta cell function",1721,7,"1.0"]
["C4290094","postprocedural diabetes mellitus",1721,7,"1.0"]
["C4290095","secondary diabetes mellitus NEC",1721,7,"1.0"]
["C0022340","Late-Infantile Neuronal Ceroid Lipfuscinosis",1691,7,"0.009745008850924095","Endocrine, nutritional and metabolic diseases"]
["C0022797","Adult Neuronal Ceroid Lipofuscinosis",1691,7,"0.381466495836814","Endocrine, nutritional and metabolic diseases"]
["C0027877","Neuronal Ceroid-Lipofuscinoses",1691,7,"0.3818987805576763","Endocrine, nutritional and metabolic diseases"]
["C0268281","Infantile neuronal ceroid lipofuscinosis",1691,7,"0.5002050858480649"]
["C0751383","Juvenile Neuronal Ceroid Lipofuscinosis",1691,7,"0.4003441029909729","Endocrine, nutritional and metabolic diseases"]
["C1850451","CEROID LIPOFUSCINOSIS, NEURONAL, 1",1691,7,"0.3039023480831197"]
["C2931673","Ceroid lipofuscinosis, neuronal 1, infantile",1691,7,"0.03203011754391515"]
["C1504405","Pyramidal tract dysfunction",1639,7,"0.6368796863267676"]
["C1857663","Yunis Varon syndrome",1639,7,"0.6683395508275005"]
["C1970011","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J",1639,7,"0.7014987938469461"]
["C2675191","Polymicrogyria, Bilateral Occipital",1639,7,"0.7014987938469461"]
["C2675491","AMYOTROPHIC LATERAL SCLEROSIS 11",1639,7,"0.7014987938469461"]
["C2677535","Alopecia, Neurologic Defects, and Endocrinopathy Syndrome",1639,7,"0.10582384421488412"]
["C4013648","POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL",1639,7,"0.7014987938469461"]
["C0270969","Zebra body myopathy",1568,7,"0.9874271886404451"]
["C1834339","Myopathy, Actin, Congenital, with Excess of Thin Myofilaments",1568,7,"0.9259148822148114"]
["C2750536","Nemaline Myopathy 3, With Intranuclear Rods",1568,7,"0.9874271886404451"]
["C2750537","Myopathy, Actin, Congenital, With Cores",1568,7,"0.9874271886404451"]
["C3711377","Intranuclear Rod Myopathy",1568,7,"0.9874271886404451"]
["C3711389","Actin-Accumulation Myopathy",1568,7,"0.9874271886404451"]
["C4225181","MYOPATHY, SCAPULOHUMEROPERONEAL",1568,7,"0.9874271886404451"]
["C0001621","Adrenal Gland Diseases",1517,7,"0.8524907839149616","Endocrine, nutritional and metabolic diseases"]
["C0042131","Uterine Diseases",1517,7,"0.9744696903112824","Diseases of the genitourinary system"]
["C0085622","Monoplegia",1517,7,"0.9744696903112824","Diseases of the nervous system"]
["C0154694","Hemiplegia, Spastic",1517,7,"0.9039969145238312","Diseases of the nervous system"]
["C0278110","Hemiplegia, Crossed",1517,7,"0.9726495526589284"]
["C0392550","Hemiplegia, Infantile",1517,7,"0.9744696903112824"]
["C1720816","Endometrial Diseases",1517,7,"0.9744696903112824"]
["C0026706","Mucopolysaccharidosis III",1514,7,"0.7268966040354875"]
["C0086647","Mucopolysaccharidosis Type IIIA",1514,7,"0.6307582878123091","Endocrine, nutritional and metabolic diseases"]
["C0086648","MPS III B",1514,7,"0.7005171555200794","Endocrine, nutritional and metabolic diseases"]
["C0086649","MPS III C",1514,7,"0.6829832180569418","Endocrine, nutritional and metabolic diseases"]
["C0086650","MPS III D",1514,7,"0.6024101198885113","Endocrine, nutritional and metabolic diseases"]
["C4225287","RETINITIS PIGMENTOSA 73",1514,7,"0.3445245033785194"]
["C4225306","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V",1514,7,"0.2715014461574377"]
["C0220987","Hereditary orotic aciduria",1374,7,"0.7065315829061334"]
["C0268130","Hereditary orotic aciduria, type 1",1374,7,"0.7056793965104504"]
["C0949116","Congenital hypoplastic anemia",1374,7,"0.518609008406321","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3278622","OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA",1374,7,"0.7065315829061334"]
["C4021731","Pyrimidine-responsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4025287","Folate-unresponsive megaloblastic anemia",1374,7,"0.7065315829061334"]
["C4225320","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50",1374,7,"-0.18329244150023455"]
["C1833369","OROFACIAL CLEFT 3",1280,7,"0.9967601029660361"]
["C1835894","Orofacial Cleft 9",1280,7,"0.9967601029660361"]
["C1842143","Orofacial Cleft 4",1280,7,"0.9967601029660361"]
["C1861537","OROFACIAL CLEFT 1",1280,7,"0.9808380176217126"]
["C1864323","OROFACIAL CLEFT 2",1280,7,"0.9967601029660361"]
["C2748505","Orofacial Cleft 12",1280,7,"0.9967601029660361"]
["C3151222","OROFACIAL CLEFT 13",1280,7,"0.9967601029660361"]
["C0454641","Expressive language delay",1249,7,"0.03949497349468351"]
["C0700201","Dyssomnias",1249,7,"0.8444506671680055"]
["C0752289","Environmental Sleep Disorder",1249,7,"0.8444506671680055"]
["C0752293","Sleep Disorders, Extrinsic",1249,7,"0.8444506671680055"]
["C0795864","Smith-Magenis syndrome",1249,7,"0.6899805799717302","Congenital malformations, deformations and chromosomal abnormalities"]
["C2931246","Potocki-Lupski syndrome",1249,7,"0.7439276250903712"]
["C4225255","YUAN-HAREL-LUPSKI SYNDROME",1249,7,"0.8444506671680055"]
["C0087012","Ataxia, Spinocerebellar",1082,7,"0.9257657649055158"]
["C0752120","Spinocerebellar Ataxia Type 1",1082,7,"0.9101495548915252"]
["C0752121","Spinocerebellar Ataxia Type 2",1082,7,"0.9074758780774383"]
["C0752122","Spinocerebellar Ataxia Type 4",1082,7,"0.9208494074120892"]
["C0752123","Spinocerebellar Ataxia Type 5",1082,7,"0.8625213061267359"]
["C0752124","Spinocerebellar Ataxia Type 6 (disorder)",1082,7,"0.8177028186575886"]
["C0752125","Spinocerebellar Ataxia Type 7",1082,7,"0.9030657268179937"]
["C0009324","Ulcerative Colitis",1029,7,"0.18778865773126063","Diseases of the digestive system"]
["C0010346","Crohn Disease",1029,7,"0.631562428732385","Diseases of the digestive system"]
["C0021390","Inflammatory Bowel Diseases",1029,7,"0.14191870206138832"]
["C0156147","Crohn\\'s disease of large bowel",1029,7,"0.6170203836221173","Diseases of the digestive system"]
["C0267380","Crohn\\'s disease of the ileum",1029,7,"0.6547814613509333","Diseases of the digestive system"]
["C0678202","Regional enteritis",1029,7,"0.6591136699546444","Diseases of the digestive system"]
["C0949272","IIeocolitis",1029,7,"0.6545885072337488"]
["C0751576","Partial Paralysis (Paresis) Vocal Cords",969,7,"0.05191090570646802"]
["C1842197","Charcot-Marie-Tooth Disease, Recessive Intermediate A",969,7,"0.8612066799351721"]
["C1842983","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K",969,7,"0.8152882047589901"]
["C1842984","Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k",969,7,"0.8612066799351721"]
["C1843173","Charcot-Marie-Tooth disease, Type 2H",969,7,"0.8612066799351721"]
["C1843183","Charcot-Marie-Tooth disease, Type 4A, axonal form",969,7,"0.6673815360364577"]
["C1859198","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)",969,7,"0.8612066799351721"]
["C0393556","Complicated hereditary spastic paraplegia",963,7,"0.72249728201469"]
["C0521670","Cranial nerve compression",963,7,"-0.2237250598717857"]
["C1858479","Spastic paraplegia 11, autosomal recessive",963,7,"0.72249728201469"]
["C1865864","AMYOTROPHIC LATERAL SCLEROSIS 5",963,7,"0.72249728201469"]
["C2931821","Nakamura Osame syndrome",963,7,"0.72249728201469"]
["C4021582","Distal peripheral sensory neuropathy",963,7,"0.6231008219355161"]
["C4225253","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X",963,7,"0.72249728201469"]
["C0028064","Niemann-Pick Diseases",956,7,"0.8837315605694889","Endocrine, nutritional and metabolic diseases"]
["C0268242","Niemann-Pick Disease, Type A",956,7,"0.9848973435834008","Endocrine, nutritional and metabolic diseases"]
["C0268243","Niemann-Pick Disease, Type B",956,7,"0.9848973435834008","Endocrine, nutritional and metabolic diseases"]
["C0268248","Niemann-Pick Disease, Type E",956,7,"0.9848973435834008"]
["C1843418","Niemann-Pick Disease, Type F",956,7,"0.9848973435834008"]
["C2675644","Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression",956,7,"0.9848973435834008"]
["C2675646","NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)",956,7,"0.9848973435834008"]
["C0027849","Neuroleptic Malignant Syndrome",947,7,"-0.33038835506470754","Diseases of the nervous system"]
["C0221271","Elastosis perforans serpiginosa",947,7,"0.17291487511306886","Diseases of the skin and subcutaneous tissue"]
["C0238421","Selenium deficiency",947,7,"-0.3067286723565978"]
["C0338468","Tic Disorders, Vocal",947,7,"0.47296929892276535"]
["C0751553","Childhood Tic Disorders",947,7,"0.47296929892276535"]
["C0751554","Motor Tic Disorders",947,7,"0.47296929892276535"]
["C2751067","Parkinsonism-Dystonia, Infantile",947,7,"0.1389614173800297"]
["C0023804","Lipomatosis, Multiple Symmetrical",869,7,"0.8638912733930747"]
["C0393807","Hereditary motor and sensory neuropathy with optic atrophy (disorder)",869,7,"0.8015634364536603"]
["C1836485","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)",869,7,"0.865759783759407"]
["C2079538","Charcot-Marie-Tooth disease, Type 2A",869,7,"0.8565732247499304"]
["C2931642","Benign symmetrical lipomatosis",869,7,"0.8539929001192434"]
["C4025619","Peripheral axonal atrophy",869,7,"0.03204881303701446"]
["C4310725","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B",869,7,"0.865759783759407"]
["C0157738","Chronic skin ulcer",799,7,"0.36881212157454607","Diseases of the skin and subcutaneous tissue"]
["C0206141","Idiopathic Hypereosinophilic Syndrome",799,7,"0.8321346232469082"]
["C0206143","Loeffler\\'s Endocarditis",799,7,"0.8309972982949037"]
["C0263662","Disseminated eosinophilic collagen disease",799,7,"0.8417435364687668"]
["C0745091","Hypereosinophilia",799,7,"0.5766791817757657"]
["C1540912","Hypereosinophilic syndrome",799,7,"0.7655568201131454"]
["C3853548","Pdgfra-Associated Chronic Eosinophilic Leukemia",799,7,"0.8084766181292814"]
["C0030590","Paroxysmal supraventricular tachycardia",768,7,"0.9428429931621836"]
["C0032915","Preexcitation Syndrome",768,7,"0.9455601204047469","Diseases of the circulatory system"]
["C0043202","Wolff-Parkinson-White Syndrome",768,7,"0.649749397811892","Diseases of the circulatory system"]
["C0281788","Biventricular hypertrophy",768,7,"0.9428429931621836"]
["C0559106","Ventricular preexcitation",768,7,"0.9219172999954353"]
["C1833236","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)",768,7,"0.9428429931621836"]
["C1849813","Glycogen Storage Disease of Heart, Lethal Congenital",768,7,"0.9428429931621836"]
["C0023138","Laurence-Moon Syndrome",751,7,"0.5530329697908914"]
["C0037050","Sick Building Syndrome",751,7,"0.5530329697908914"]
["C1389102","Atrophy of the spinal cord",751,7,"0.537869109296383"]
["C1848745","Oliver-McFarlane syndrome",751,7,"0.5530329697908914"]
["C1850395","Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive",751,7,"-0.05471722197819677"]
["C1859093","Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism",751,7,"0.5530329697908914"]
["C2677586","Spastic Paraplegia 39, Autosomal Recessive",751,7,"0.5530329697908914"]
["C0019191","Infectious Canine Hepatitis",738,7,"1.0"]
["C1843512","BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE",738,7,"1.0"]
["C2673195","Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps",738,7,"1.0"]
["C2675650","Brain Small Vessel Disease With Axenfeld-Rieger Anomaly",738,7,"1.0"]
["C2930808","Familial vascular leukoencephalopathy",738,7,"1.0"]
["C4013035","BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES",738,7,"1.0"]
["C4024975","Posterior leukoencephalopathy",738,7,"1.0"]
["C0221054","Welander Distal Myopathy",731,7,"0.3812849537635705"]
["C0264789","Familial cardiomyopathy",731,7,"0.8191388975682928"]
["C1834481","CARDIOMYOPATHY, DILATED, 1S",731,7,"0.7107729389438642"]
["C1842160","MYOPATHY, MYOSIN STORAGE (disorder)",731,7,"0.8191388975682928"]
["C1850709","Myopathy, Hyaline Body, Autosomal Recessive",731,7,"0.8191388975682928"]
["C3150690","LEFT VENTRICULAR NONCOMPACTION 5",731,7,"0.8191388975682928"]
["C4023127","Toe extensor amyotrophy",731,7,"0.8191388975682928"]
["C0019624","Histiocytosis, Non-Langerhans-Cell",563,7,"0.9997076812797654"]
["C0878675","Erdheim-Chester Disease",563,7,"0.9982469751495253"]
["C1275336","Hashimoto-Pritzker syndrome",563,7,"0.9997076812797654"]
["C1402291","Pigmented lesions",563,7,"0.9997076812797654"]
["C1562010","Langerhans cell histiocytosis of lung",563,7,"0.9997076812797654"]
["C3150970","NOONAN SYNDROME 7",563,7,"0.9997076812797654"]
["C3150971","LEOPARD SYNDROME 3",563,7,"0.9997076812797654"]
["C0221060","Mobius Syndrome",537,7,"0.34116755428353224","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265233","Cryptophthalmos syndrome",537,7,"0.6914449727133183","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265240","Goldenhar Syndrome",537,7,"0.43865102985479665","Congenital malformations, deformations and chromosomal abnormalities"]
["C0281890","Laryngeal web",537,7,"0.5513991455619012"]
["C0687154","Acrocephalopolysyndactyly",537,7,"0.4771518346178361","Congenital malformations, deformations and chromosomal abnormalities"]
["C4025208","Severe T-cell immunodeficiency",537,7,"0.4673363837780735"]
["C4540036","FRASER SYNDROME 2",537,7,"0.3853593638309096"]
["C0006848","Mucocutaneous candidiasis",524,7,"-0.07592702526490723"]
["C0032064","Plague",524,7,"0.6218490834498867","Certain infectious and parasitic diseases"]
["C0040561","Ocular Toxoplasmosis",524,7,"0.11717401218752989","Certain infectious and parasitic diseases"]
["C0343052","Guttate psoriasis",524,7,"-0.0854688567919862","Diseases of the skin and subcutaneous tissue"]
["C0406317","Chronic small plaque psoriasis",524,7,"0.5041323683753064","Diseases of the skin and subcutaneous tissue"]
["C1262117","Fungal keratitis",524,7,"0.6218490834498867"]
["C1609432","manifestations of immunopathology",524,7,"0.6218490834498867"]
["C0002438","Amebiasis",475,7,"0.7036637071355158","Certain infectious and parasitic diseases"]
["C0013370","Amebic colitis",475,7,"0.7036637071355158"]
["C0032002","Pituitary Diseases",475,7,"0.35163049302337607","Endocrine, nutritional and metabolic diseases"]
["C0036992","Short Bowel Syndrome",475,7,"-0.07212232736894851"]
["C0751437","Adenohypophyseal Diseases",475,7,"0.7036637071355158"]
["C0751438","Posterior pituitary disease",475,7,"0.7036637071355158"]
["C3554225","LEPTIN RECEPTOR DEFICIENCY",475,7,"0.7126397460079514"]
["C0001916","Albinism",394,7,"0.08659321546951285","Endocrine, nutritional and metabolic diseases"]
["C0268494","Oculocutaneous albinism type 1",394,7,"0.19339936899669954"]
["C0268495","Oculocutaneous albinism type 2",394,7,"0.39456716132745495","Endocrine, nutritional and metabolic diseases"]
["C1847024","ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)",394,7,"0.2327815893769088"]
["C1847132","ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE",394,7,"0.2883570514742417"]
["C1847836","Oculocutaneous Albinism, Type IV",394,7,"0.3774657501663933"]
["C3888401","ALBINISM, OCULOCUTANEOUS, TYPE V",394,7,"0.6377678052519968"]
["C0014548","Epilepsy, Generalized",326,7,"0.6191113348262938"]
["C0017332","Generalized Nonconvulsive Seizure Disorder",326,7,"0.9484384670829212"]
["C0086236","Epilepsy, Atonic",326,7,"0.9484384670829212"]
["C0086241","Epilepsy, Tonic",326,7,"0.9484384670829212"]
["C0270854","Symptomatic Generalized Epilepsy",326,7,"0.9479388859098604"]
["C0311334","Generalized convulsive epilepsy",326,7,"0.9484384670829212"]
["C0347869","Epilepsy, Akinetic",326,7,"0.9484384670829212"]
["C0348617","Other cardiomyopathies",240,7,"0.06765223003863212","Diseases of the circulatory system"]
["C1843292","Skin Fragility-Woolly Hair Syndrome",240,7,"0.8644666438091182"]
["C1843896","Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",240,7,"0.8644666438091182"]
["C1852127","KERATOSIS PALMOPLANTARIS STRIATA II",240,7,"0.8644666438091182"]
["C1854063","Cardiomyopathy dilated with Woolly hair and keratoderma",240,7,"0.8644666438091182"]
["C1864826","Epidermolysis bullosa, lethal acantholytic",240,7,"0.798774365503021"]
["C4014393","CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS",240,7,"0.8644666438091182"]
["C0085084","Motor Neuron Disease",181,7,"0.3621454154929846","Diseases of the nervous system"]
["C0154681","Anterior Horn Cell Disease",181,7,"0.8434165605709408"]
["C0154682","Lateral Sclerosis",181,7,"0.7355465095145428","Diseases of the nervous system"]
["C0270763","Familial Motor Neuron Disease",181,7,"0.8621489647310797","Diseases of the nervous system"]
["C0270764","Motor Neuron Disease, Lower",181,7,"0.8626323328967057"]
["C0521659","Motor Neuron Disease, Upper",181,7,"0.8621489647310797"]
["C0543858","Motor Neuron Disease, Secondary",181,7,"0.8621489647310797"]
["C0033999","Pterygium",178,7,"0.624708766534821"]
["C0042749","Viremia",178,7,"0.7067899325459075","Certain infectious and parasitic diseases"]
["C0155305","Optic Neuropathy, Ischemic",178,7,"0.6340356780722164","Diseases of the eye and adnexa"]
["C0206608","Flavivirus Infections",178,7,"0.8433191715886285"]
["C0524911","Hepatitis D, Chronic",178,7,"0.8433191715886285"]
["C0751711","Anterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0751712","Posterior Ischemic Optic Neuropathy",178,7,"0.8433191715886285"]
["C0398641","Epstein syndrome (disorder)",137,7,"0.9995844678655483"]
["C0403445","Fechtner syndrome (disorder)",137,7,"0.9995844678655483"]
["C1834478","MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS",137,7,"0.9995844678655483"]
["C1854520","SEBASTIAN SYNDROME",137,7,"0.9975105587793996"]
["C1861512","Cochleosaccular degeneration of the inner ear and progressive cataracts",137,7,"0.9995844678655483"]
["C1863659","DEAFNESS, AUTOSOMAL DOMINANT 17",137,7,"0.9995844678655483"]
["C2931716","Deafness, autosomal dominant nonsyndromic sensorineural 17",137,7,"0.9995844678655483"]
["C0015773","Felty Syndrome",104,7,"0.8053295654220726","Diseases of the musculoskeletal system and connective tissue"]
["C0023788","Whipple Disease",104,7,"0.8822638238711636","Diseases of the digestive system"]
["C0032533","Polymyalgia Rheumatica",104,7,"0.41928162267228003","Diseases of the musculoskeletal system and connective tissue"]
["C0040115","Thymus Hyperplasia",104,7,"0.8822638238711639"]
["C0340164","Lofgrens syndrome",104,7,"0.5970996544082956"]
["C0406217","Actinic prurigo",104,7,"0.8822638238711639"]
["C1304469","Localized vitiligo",104,7,"0.8822638238711639"]
["C0041105","Trismus",46,7,"0.5031468258950399"]
["C0268379","Pseudocholinesterase deficiency",46,7,"0.8807519467495823"]
["C0520758","Prolonged neuromuscular block",46,7,"0.8807519467495823"]
["C1283400","Butyrylcholinesterase deficiency",46,7,"0.8648589923432382"]
["C1867467","Acholinesterasemia",46,7,"0.8807519467495823"]
["C1867469","Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C1867470","Hypocholinesterasemia, Fluoride-Resistant, Japanese Type",46,7,"0.8807519467495823"]
["C0011989","Camurati-Engelmann Syndrome",8,7,"0.850009803302599","Congenital malformations, deformations and chromosomal abnormalities"]
["C0030848","Peyronie Disease",8,7,"0.6683942855799175","Diseases of the genitourinary system"]
["C0235989","Renal interstitial fibrosis",8,7,"0.8435672662936633"]
["C0521607","Peritoneal Fibrosis",8,7,"0.9244295625394027"]
["C0878576","Posterior Leukoencephalopathy Syndrome",8,7,"0.9264770333850133"]
["C2717860","Encapsulating Peritoneal Sclerosis",8,7,"0.9264770333850133"]
["C3160858","Posterior reversible encephalopathy syndrome",8,7,"0.9264770333850133","Diseases of the circulatory system"]
["C0270765","Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0393541","Distal Spinal Muscular Atrophy",3,7,"0.7938015520840968","Diseases of the nervous system"]
["C0393546","Oculopharyngeal Spinal Muscular Atrophy",3,7,"0.89837165731556"]
["C0751334","Progressive Proximal Myelopathic Muscular Atrophy",3,7,"0.89837165731556"]
["C0751335","Scapuloperoneal Form of Spinal Muscular Atrophy",3,7,"0.23472395381758301","Diseases of the nervous system"]
["C0917981","Progressive Muscular Atrophy",3,7,"0.8391124368502302"]
["C3661519","Hereditary Motor Neuronopathy",3,7,"0.89837165731556"]
["C0032371","Poliomyelitis",2192,6,"1.0","Certain infectious and parasitic diseases"]
["C0555971","Oral infection",2192,6,"1.0"]
["C0751445","Encephalitis, Polio",2192,6,"1.0"]
["C0751446","Poliomyelitis, Nonpoliovirus",2192,6,"1.0"]
["C0751447","Poliomyelitis, Preparalytic",2192,6,"1.0"]
["C1527258","Infantile paralysis",2192,6,"1.0"]
["C0007862","Cervico-Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0085920","Brachial Neuralgia",2138,6,"0.999916502869803"]
["C0221759","Brachial Plexus Neuritis",2138,6,"0.999916502869803","Diseases of the nervous system"]
["C0700251","Brachial Plexus Neuropathies",2138,6,"0.999916502869803","Diseases of the nervous system"]
["C1510479","Neuralgic Amyotrophy",2138,6,"0.999916502869803","Diseases of the nervous system"]
["C1834304","AMYOTROPHY, HEREDITARY NEURALGIC",2138,6,"0.9995804126684312"]
["C0013447","Ear Diseases",2068,6,"0.9975842949713284","Diseases of the ear and mastoid process"]
["C1847593","EPIPHYSEAL DYSPLASIA, MULTIPLE, 4",2068,6,"0.9995167617141693"]
["C1850554","Atelosteogenesis type 2",2068,6,"0.9995167617141693"]
["C1850555","De La Chapelle Dysplasia",2068,6,"0.9995167617141693"]
["C1857255","Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant",2068,6,"0.9995167617141693"]
["C4023720","Cystic lesions of the pinnae",2068,6,"0.9995167617141693"]
["C1843807","Basal ganglia disease, biotin-responsive",1880,6,"0.09961392733652241"]
["C1851915","Abnormal facial muscle tone",1880,6,"0.6973555473280061"]
["C4023011","Craniofacial dystonia",1880,6,"0.6973555473280061"]
["C4072883","Abnormal craniofacial posture",1880,6,"0.6973555473280061"]
["C4310634","DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES",1880,6,"0.24201927626570696"]
["C4310743","STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET",1880,6,"0.2752157980350304"]
["C0023009","Speech and language disorder",1869,6,"0.3117899244885336"]
["C0264611","Apraxia of Phonation",1869,6,"0.26536378664178795"]
["C0751257","Auditory Processing Disorder, Central",1869,6,"-0.06711214428919036","Diseases of the ear and mastoid process"]
["C3281084","Congenital disorder of glycosylation type 1r",1869,6,"-0.1604413123167158"]
["C4021845","Oromotor apraxia",1869,6,"0.3874830477702107"]
["C4310833","INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN",1869,6,"0.11609787534550929"]
["C0206750","Coronavirus Infections",1846,6,"0.7293398185397326","Certain infectious and parasitic diseases"]
["C0282687","Hemorrhagic Fever, Ebola",1846,6,"0.16044861831789892","Certain infectious and parasitic diseases"]
["C0702135","Primary atypical pneumonia",1846,6,"0.8167081241366331"]
["C1412002","Atypical pneumonia",1846,6,"0.8167081241366331"]
["C3694279","Middle East Respiratory Syndrome",1846,6,"0.5768900183603317"]
["C4540188","NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES",1846,6,"0.8167081241366331"]
["C0038870","Neuralgia, Supraorbital",1845,6,"0.9999999999999997"]
["C0042656","Neuralgia, Vidian",1845,6,"0.9999999999999997"]
["C0234247","Neuralgia, Atypical",1845,6,"0.9999999999999997"]
["C0234249","Neuralgia, Stump",1845,6,"0.9999999999999997"]
["C0423711","Neuralgia, Perineal",1845,6,"0.9999999999999997"]
["C0423712","Neuralgia, Iliohypogastric Nerve",1845,6,"0.9999999999999997"]
["C0151604","Genital edema",1819,6,"0.738826503950998"]
["C0272051","Xerocytosis",1819,6,"0.5893949678546064"]
["C1863769","Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema",1819,6,"0.738826503950998"]
["C4025182","Exercise-induced hemolysis",1819,6,"0.738826503950998"]
["C4225184","LYMPHEDEMA, HEREDITARY, III",1819,6,"0.738826503950998"]
["C4225242","DEHYDRATED HEREDITARY STOMATOCYTOSIS 2",1819,6,"-0.03416240762849514"]
["C0022681","Medullary sponge kidney",1609,6,"0.5518987748215982","Congenital malformations, deformations and chromosomal abnormalities"]
["C1836517","Senior-Loken Syndrome 5",1609,6,"0.05944868530842296"]
["C1846980","Senior-Loken Syndrome 3",1609,6,"0.5607599672181636"]
["C2939174","Medullary cystic disease",1609,6,"0.45796531755379355","Congenital malformations, deformations and chromosomal abnormalities"]
["C3150877","SENIOR-LOKEN SYNDROME 7",1609,6,"0.5749325326275226"]
["C3889474","BARDET-BIEDL SYNDROME 16",1609,6,"-0.15177959363882892"]
["C0268626","Juvenile nephropathic cystinosis (disorder)",1567,6,"1.0"]
["C2749685","CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder)",1567,6,"1.0"]
["C2931013","Cystinosis, benign, nonnephropathic",1567,6,"1.0"]
["C2931187","Nephropathic cystinosis",1567,6,"1.0"]
["C3537440","Cystinosis, Infantile Nephropathic",1567,6,"1.0"]
["C4316899","Cystinosis",1567,6,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0268553","Hyperlysinemias",1566,6,"0.9817879696697652","Endocrine, nutritional and metabolic diseases"]
["C0268555","Hyperlysinemia, Periodic",1566,6,"0.9963470750632383"]
["C0268556","Saccharopinuria",1566,6,"0.9963470750632383"]
["C0936256","Lysine Alpha-Ketoglutarate Reductase Deficiency Disease",1566,6,"0.9963470750632383"]
["C1527317","Alpha-Aminoadipic Semialdehyde Deficiency Disease",1566,6,"0.9963470750632383"]
["C2936921","Saccharopine dehydrogenase deficiency",1566,6,"0.9963470750632383"]
["C0010823","Cytomegalovirus Infections",1534,6,"0.6755742786632634","Certain infectious and parasitic diseases"]
["C0026918","Mycobacterium Infections",1534,6,"0.7287136674355542","Certain infectious and parasitic diseases"]
["C0340639","Carotid artery aneurysm",1534,6,"0.8878052037818089","Diseases of the circulatory system"]
["C3151088","IMMUNODEFICIENCY 31B",1534,6,"0.8786081321831024"]
["C3279990","CANDIDIASIS, FAMILIAL, 7",1534,6,"0.8878052037818089"]
["C4013950","IMMUNODEFICIENCY 31A",1534,6,"0.8878052037818089"]
["C0154209","Hyperestrogenism",1516,6,"0.9920146521832814","Endocrine, nutritional and metabolic diseases"]
["C0242341","Sexual Infantilism",1516,6,"0.9920146521832814"]
["C0853662","Oestrogen deficiency",1516,6,"0.9706426284991281"]
["C1563718","Genital Infantilism",1516,6,"0.9920146521832814"]
["C1960539","Aromatase deficiency",1516,6,"0.9819016919153035"]
["C1970109","AROMATASE EXCESS SYNDROME",1516,6,"0.9920146521832814"]
["C1838780","Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease",1487,6,"1.0"]
["C2931296","Yorifuji Okuno syndrome",1487,6,"1.0"]
["C3280939","ATRIOVENTRICULAR SEPTAL DEFECT 5",1487,6,"1.0"]
["C3280943","ATRIAL SEPTAL DEFECT 9",1487,6,"1.0"]
["C3888085","PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",1487,6,"1.0"]
["C4012454","HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES",1487,6,"1.0"]
["C0154822","Serous retinal detachment",1473,6,"0.28080632735466743","Diseases of the eye and adnexa"]
["C0410192","Muscular Dystrophy, Scapulohumeral",1473,6,"0.4300286354834094","Diseases of the nervous system"]
["C1834671","FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B",1473,6,"-0.1668809338126489"]
["C1834673","Facioscapulohumeral muscular dystrophy 1a",1473,6,"0.10283219274560317"]
["C1863878","Arhinia, choanal atresia, and microphthalmia",1473,6,"0.3093822952710605"]
["C3280205","RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS",1473,6,"0.13086365991194404"]
["C0205730","Hereditary Opalescent Dentin (disorder)",1447,6,"0.9853361620923904"]
["C1527284","Dental Pulp Stone",1447,6,"0.929948550601483","Diseases of the digestive system"]
["C1854146","Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1",1447,6,"0.9853361620923904"]
["C2750327","Hearing loss, sensorineural (high frequency)",1447,6,"0.9853361620923904"]
["C2973527","Dentinogenesis imperfecta without osteogenesis imperfecta",1447,6,"0.9853361620923904"]
["C4049050","Opalescent dentin",1447,6,"0.9853361620923904"]
["C0268559","Hyperglycinemia",1355,6,"0.2512969663981975"]
["C0268560","Hyperglycinemia, Transient Neonatal",1355,6,"0.7216867762318886"]
["C0268561","Hyperglycinemia, Nonketotic, Type I",1355,6,"0.8502898146267285"]
["C0268562","Hyperglycinemia, Nonketotic, Type II",1355,6,"0.8502898146267285"]
["C0751747","Hyperglycinemia, Nonketotic, Type III",1355,6,"0.8502898146267285"]
["C0751748","Nonketotic Hyperglycinemia",1355,6,"0.8454088393983017","Endocrine, nutritional and metabolic diseases"]
["C0007785","Cerebral Infarction",1339,6,"0.736183748381762","Diseases of the circulatory system"]
["C0751010","Cerebral Infarction, Left Hemisphere",1339,6,"0.9416628771389914"]
["C0751011","Cerebral Infarction, Right Hemisphere",1339,6,"0.9416628771389914"]
["C0751012","Anterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0751014","Subcortical Infarction",1339,6,"0.9416628771389914"]
["C0887799","Posterior Choroidal Artery Infarction",1339,6,"0.9416628771389914"]
["C0001890","Akinetic Petit Mal",1326,6,"0.8258188499216335"]
["C0014553","Absence Epilepsy",1326,6,"0.6375263018664784"]
["C0751124","Epilepsy, Absence, Atypical",1326,6,"0.8258188499216335"]
["C1838604","EPILEPSY, CHILDHOOD ABSENCE, 1",1326,6,"0.2716756322258953"]
["C4281785","Childhood Absence Epilepsy",1326,6,"0.8269372775744822"]
["C4317339","Juvenile Absence Epilepsy",1326,6,"0.8258188499216335","Diseases of the nervous system"]
["C0268138","Xeroderma Pigmentosum, Complementation Group D",1293,6,"0.7269472434849313"]
["C1853102","Cerebrooculofacioskeletal Syndrome 2",1293,6,"0.7387805067133496"]
["C1866504","Photosensitive Trichothiodystrophy",1293,6,"0.5817195090702659"]
["C1866505","Ichthyosis, Congenital, with Trichothiodystrophy",1293,6,"0.7387805067133496"]
["C1955934","Trichothiodystrophy Syndromes",1293,6,"0.1967493747646558"]
["C4024961","Metachromatic leukodystrophy variant",1293,6,"0.7387805067133496"]
["C0020630","Hypophosphatasia",1246,6,"0.7702237644487501","Endocrine, nutritional and metabolic diseases"]
["C0220743","Childhood hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C0268412","Infantile hypophosphatasia",1246,6,"0.9525312228095093"]
["C0268413","Adult hypophosphatasia (disorder)",1246,6,"0.9525312228095093"]
["C1840322","ODONTOHYPOPHOSPHATASIA (disorder)",1246,6,"0.9525312228095093"]
["C2673477","Hypophosphatasia, Perinatal Lethal",1246,6,"0.9525312228095093"]
["C0238304","Chronic interstitial nephritis",1221,6,"0.5079926130781431","Diseases of the genitourinary system"]
["C1865872","NEPHRONOPHTHISIS 2",1221,6,"-0.18636023610443736"]
["C3280598","SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY",1221,6,"0.6435137564077629"]
["C3280612","NEPHRONOPHTHISIS 13",1221,6,"0.6435137564077629"]
["C3280616","CRANIOECTODERMAL DYSPLASIA 4",1221,6,"0.4321476416969241"]
["C4225376","SENIOR-LOKEN SYNDROME 8",1221,6,"0.6435137564077629"]
["C0741916","Cardiac defects",1211,6,"0.1695060358123374"]
["C1842778","Atrial septal defect 2",1211,6,"0.8020305089104421"]
["C2931638","Chromosome 8, monosomy 8p23 1",1211,6,"0.8020305089104421"]
["C3280777","VENTRICULAR SEPTAL DEFECT 1",1211,6,"0.8020305089104421"]
["C3280781","ATRIOVENTRICULAR SEPTAL DEFECT 4",1211,6,"0.8020305089104421"]
["C3809858","TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE",1211,6,"0.8020305089104421"]
["C0152101","Hypoplastic Left Heart Syndrome",1207,6,"0.19307825837371637","Congenital malformations, deformations and chromosomal abnormalities"]
["C2673630","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)",1207,6,"0.7703110005684497"]
["C3276096","ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS",1207,6,"0.7703110005684497"]
["C3280785","VENTRICULAR SEPTAL DEFECT 3",1207,6,"0.7703110005684497"]
["C3280795","HYPOPLASTIC LEFT HEART SYNDROME 2",1207,6,"0.602452932946423"]
["C3502353","Atrial Septal Defect with Atrioventricular Conduction Defects",1207,6,"0.7703110005684497"]
["C0156259","Hypertrophy of kidney",1198,6,"0.9755319573696319","Diseases of the genitourinary system"]
["C1832855","CHOREOATHETOSIS/SPASTICITY, EPISODIC",1198,6,"0.9755319573696319"]
["C1837206","Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly",1198,6,"0.9755319573696319"]
["C1842534","DYSTONIA 18 (disorder)",1198,6,"0.8296927339960722"]
["C1847501","Glut1 Deficiency Syndrome",1198,6,"0.9755319573696319"]
["C3149117","GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE",1198,6,"0.9755319573696319"]
["C0342482","X-linked Adrenal Hypoplasia",1180,6,"0.458298165746049"]
["C0795887","Complex Glycerol Kinase Deficiency",1180,6,"0.8097284676200114"]
["C1848296","DOSAGE-SENSITIVE SEX REVERSAL",1180,6,"0.7768800640432095"]
["C1868690","Hypoadrenocorticism, familial",1180,6,"0.780931783419923"]
["C3887896","Primary Adrenal Insufficiency",1180,6,"0.626300617743963"]
["C4505291","Xp21 Contiguous Gene Deletion Syndrome",1180,6,"0.8097284676200114"]
["C1839730","Prieto X-linked mental retardation syndrome",1175,6,"0.8074109953909597"]
["C1842462","CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C1861922","CAMPOMELIC DYSPLASIA",1175,6,"0.9602083185141668"]
["C1861923","Acampomelic Campomelic Dysplasia",1175,6,"0.967585231757277"]
["C3549544","ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL",1175,6,"0.967585231757277"]
["C4225331","46,XY SEX REVERSAL 10",1175,6,"0.967585231757277"]
["C0008928","Cleidocranial Dysplasia",1173,6,"0.920800854302555","Congenital malformations, deformations and chromosomal abnormalities"]
["C0949690","Spondylarthritis",1173,6,"0.7980260053315987"]
["C1834969","Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly",1173,6,"0.9586769150749567"]
["C1838416","CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY",1173,6,"0.9586769150749567"]
["C1861516","Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly",1173,6,"0.9586769150749567"]
["C3549874","METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY",1173,6,"0.9586769150749567"]
["C0268120","Adenine phosphoribosyltransferase deficiency",1166,6,"0.7256790722110227"]
["C0268121","APRT deficiency, Japanese type",1166,6,"0.7256790722110227"]
["C0451641","Urolithiasis",1166,6,"0.5717990491838535","Diseases of the genitourinary system"]
["C1291390","Deficiency of phosphorylase kinase",1166,6,"0.7256790722110227"]
["C1833683","NEPHROLITHIASIS, CALCIUM OXALATE",1166,6,"-0.3937066871201299"]
["C3665382","2,8-Dihydroxyadenine Urolithiasis",1166,6,"0.7256790722110227"]
["C0042781","Visceral Myopathy",1125,6,"0.2600350815686713"]
["C0238062","Chronic intestinal pseudo-obstruction",1125,6,"0.8851738954991655"]
["C0266833","Visceral Myopathy, Familial",1125,6,"0.8851738954991655"]
["C1608393","Megacystis microcolon intestinal hypoperistalsis syndrome",1125,6,"0.62797264358772"]
["C1835084","Megaduodenum and-or Megacystis",1125,6,"0.8823397396478201"]
["C1864996","Visceral Neuropathy, Familial, Autosomal Dominant",1125,6,"0.8851738954991655"]
["C0178540","Cerebral Hypoxia-Ischemia",1104,6,"0.9999700955708143"]
["C0752304","Hypoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143","Certain conditions originating in the perinatal period"]
["C0752305","Anoxic-Ischemic Encephalopathy",1104,6,"0.9999700955708143"]
["C0752306","Anoxia-Ischemia, Brain",1104,6,"0.9999700955708143"]
["C0752307","Anoxia-Ischemia, Cerebral",1104,6,"0.9999700955708143"]
["C0752308","Hypoxia-Ischemia, Brain",1104,6,"0.9998511816605855"]
["C0021603","Sleep Initiation and Maintenance Disorders",1098,6,"1.0"]
["C0033139","Primary Insomnia",1098,6,"1.0","Mental and behavioural disorders"]
["C0349255","Nonorganic Insomnia",1098,6,"1.0"]
["C0751249","Chronic Insomnia",1098,6,"1.0"]
["C0751250","Psychophysiological Insomnia",1098,6,"1.0"]
["C0751252","Sleep Initiation Dysfunction",1098,6,"1.0"]
["C0162283","Nephrogenic Diabetes Insipidus",1046,6,"0.6716125817355577","Diseases of the genitourinary system"]
["C0268443","Acquired Nephrogenic Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0677501","Congenital Nephrogenic Diabetes Insipidus",1046,6,"0.8667894723606531"]
["C1563705","Nephrogenic Diabetes Insipidus, Type I",1046,6,"0.7217464232958005"]
["C1563706","Nephrogenic Diabetes Insipidus, Type II",1046,6,"0.8571295676595558"]
["C3542500","ADH-Resistant Diabetes Insipidus",1046,6,"0.8729109664129233"]
["C0751783","Lafora Disease",1040,6,"0.8561320175414928"]
["C0751784","Lafora Body Disease, Late Onset",1040,6,"0.8592873956258936"]
["C0877017","Generalized tonic-clonic seizures with focal onset",1040,6,"0.24941196879596317"]
["C1850764","EPILEPSY, PROGRESSIVE MYOCLONIC 2B",1040,6,"0.8496640535115283"]
["C1850765","Visual auras",1040,6,"0.8592873956258936"]
["C4317153","Simple partial occipital seizures",1040,6,"0.8592873956258936"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Neoplasms"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0024899","Mastocytosis",1027,6,"0.5921624288427199","Congenital malformations, deformations and chromosomal abnormalities"]
["C0263402","Telangiectasia macularis eruptiva perstans",1027,6,"0.7060233065158887","Neoplasms"]
["C1275345","Familial mastocytosis",1027,6,"0.7060233065158887"]
["C1837203","WAARDENBURG SYNDROME, TYPE IID",1027,6,"0.08207467360116744"]
["C4024848","Absent pigmentation of the ventral chest",1027,6,"0.6806030340524898"]
["C4509020","Isolated bone marrow mastocytosis",1027,6,"0.7060233065158887","Neoplasms"]
["C0544008","Chandler syndrome",958,6,"0.6827524243787404","Diseases of the eye and adnexa"]
["C1611195","Congenital corneal dystrophy",958,6,"0.6297921518794525"]
["C1857569","CORNEAL ENDOTHELIAL DYSTROPHY 2",958,6,"0.7287780007678624"]
["C1857572","CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS",958,6,"0.7278186576440692"]
["C1864738","Corneal Dystrophy, Congenital Stromal",958,6,"-0.17014940073170412"]
["C2750450","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4",958,6,"0.7282043878719502"]
["C0028850","Ocular Motility Disorders",944,6,"1.0"]
["C1836217","Tukel syndrome",944,6,"1.0"]
["C2748801","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT",944,6,"1.0"]
["C2750404","Fibrosis of Extraocular Muscles, Congenital, 3C",944,6,"1.0"]
["C3808397","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1",944,6,"1.0"]
["C4024789","Nonprogressive restrictive external ophthalmoplegia",944,6,"1.0"]
["C0025294","Meningococcal meningitis",940,6,"0.9929727990825112","Certain infectious and parasitic diseases"]
["C1135745","Meningitis, Meningococcal, Serogroup A",940,6,"0.9985813178854251"]
["C1135746","Meningitis, Meningococcal, Serogroup B",940,6,"0.9985813178854251"]
["C1135747","Meningitis, Meningococcal, Serogroup C",940,6,"0.9985813178854251"]
["C1136209","Meningitis, Meningococcal, Serogroup Y",940,6,"0.9985813178854251"]
["C1136210","Meningitis, Meningococcal, Serogroup W-135",940,6,"0.9985813178854251"]
["C0024507","Majewski Syndrome",936,6,"0.5231244844161741"]
["C0036069","Saldino-Noonan Syndrome",936,6,"0.6762227358374404"]
["C0036996","Short Rib-Polydactyly Syndrome",936,6,"0.5316105865537413"]
["C0265275","Jeune thoracic dystrophy",936,6,"0.30895256662858583"]
["C0432197","Short rib-polydactyly syndrome, Verma-Naumoff type",936,6,"0.3998405138434269"]
["C2910340","Asphyxiating thoracic dysplasia [Jeune]",936,6,"0.09035794376709302","Congenital malformations, deformations and chromosomal abnormalities"]
["C1328349","Neuropathy ataxia and retinis pigmentosa",926,6,"0.9465858934337152"]
["C1838916","ATAXIA AND POLYNEUROPATHY, ADULT-ONSET",926,6,"0.9495225248828499"]
["C1839022","Striatonigral Degeneration, Infantile, Mitochondrial",926,6,"0.9495225248828499"]
["C3275684","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1",926,6,"0.9495225248828499"]
["C4225415","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3",926,6,"0.7476245432308887"]
["C4225591","MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)",926,6,"0.9495225248828499"]
["C1838951","LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY",882,6,"0.9453374912035757"]
["C1850597","Leigh Syndrome Due To Mitochondrial Complex II Deficiency",882,6,"0.9873688425590115"]
["C1850598","Leigh Syndrome due to Mitochondrial Complex III Deficiency",882,6,"0.9816719682209066"]
["C1850599","Leigh Syndrome due to Mitochondrial Complex IV Deficiency",882,6,"0.9718465546669443"]
["C1850600","Leigh Syndrome due to Mitochondrial Complex V Deficiency",882,6,"0.9873688425590115"]
["C2931891","Necrotizing encephalopathy, infantile subacute, of Leigh",882,6,"0.9873688425590115"]
["C0220697","POLYDACTYLY, POSTAXIAL",868,6,"0.5682198279234147"]
["C0265220","Pallister-Hall syndrome",868,6,"0.865975550237643"]
["C1868111","Polydactyly, preaxial 4",868,6,"0.8665761683321247"]
["C1868120","POSTAXIAL POLYDACTYLY, TYPE B",868,6,"0.8665761683321247"]
["C3887487","Postaxial polydactyly type A",868,6,"0.6869535062136103"]
["C4282400","Polydactyly, Postaxial, Type A1",868,6,"0.8665761683321247"]
["C0024408","Machado-Joseph Disease",830,6,"0.6582368518814944"]
["C0751668","Machado-Joseph Disease Type I",830,6,"0.8325850514228235"]
["C0751669","Machado-Joseph Disease Type II",830,6,"0.8325850514228235"]
["C0751670","Machado-Joseph Disease Type III",830,6,"0.8325850514228235"]
["C0751671","Machado-Joseph Disease Type IV",830,6,"0.8325850514228235"]
["C1866751","Spinocerebellar tract degeneration",830,6,"0.14732935719479365"]
["C1842704","GAUCHER DISEASE, PERINATAL LETHAL",825,6,"1.0"]
["C1856476","Gaucher Disease, Type Iiic",825,6,"1.0"]
["C1856491","Gaucher Disease, Type IIIa",825,6,"1.0"]
["C1856492","Gaucher Disease, Type IIIb",825,6,"1.0"]
["C1856493","Gaucher Disease, Norrbottnian Type",825,6,"1.0"]
["C2931585","Gaucher-like disease",825,6,"1.0"]
["C0398621","Hypoplasminogenemia",806,6,"1.0","Endocrine, nutritional and metabolic diseases"]
["C1274789","Ligneous conjunctivitis",806,6,"1.0","Diseases of the eye and adnexa"]
["C1535950","Gastrointestinal inflammation",806,6,"1.0"]
["C1968804","Plasminogen Deficiency, Type I",806,6,"1.0","Endocrine, nutritional and metabolic diseases"]
["C4024810","Chronic irritative conjunctivitis",806,6,"1.0"]
["C4225445","PLASMINOGEN DEFICIENCY, TYPE II",806,6,"1.0"]
["C0027127","Myotonia Congenita",774,6,"0.9195857753535644"]
["C0270959","Myotonia Levior",774,6,"0.9337628705207531","Diseases of the nervous system"]
["C0751360","Becker Generalized Myotonia",774,6,"0.9416770846910938","Diseases of the nervous system"]
["C1828221","Non dystrophic myotonia",774,6,"0.5916309905416627"]
["C1959600","Obscure African cardiomyopathy",774,6,"0.86557682095558"]
["C2936781","Generalized Myotonia of Thomsen",774,6,"0.9407652883991425","Diseases of the nervous system"]
["C0011859","Lipoatrophic Diabetes Mellitus",746,6,"0.36580806686310957"]
["C0023787","Lipodystrophy",746,6,"0.0743521593453603","Endocrine, nutritional and metabolic diseases"]
["C0221032","Familial generalized lipodystrophy",746,6,"0.4000841229578398"]
["C0494360","Lipodystrophy, not elsewhere classified",746,6,"0.3287782726532428","Endocrine, nutritional and metabolic diseases"]
["C1720862","Congenital Generalized Lipodystrophy Type 1",746,6,"0.4272663183655444"]
["C1837792","Insulin-resistant diabetes mellitus at puberty",746,6,"0.03079288675942452"]
["C1832274","Charcot-Marie-Tooth disease, Type 2D",745,6,"0.040275470747361944"]
["C1833308","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V",745,6,"-0.5162988033870547"]
["C1847823","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F",745,6,"0.35491278412544003"]
["C2608087","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB",745,6,"0.36126552597097733"]
["C4021523","Upper limb amyotrophy",745,6,"0.5378508719436678"]
["C4021578","Chronic axonal neuropathy",745,6,"0.16708847183798495"]
["C0432418","Trisomy 21- mitotic nondisjunction mosaicism",724,6,"1.0"]
["C1839161","Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis",724,6,"1.0"]
["C1845837","Dyserythropoietic Anemia with Thrombocytopenia",724,6,"1.0"]
["C1860788","Transient Myeloproliferative Disorder of Down Syndrome",724,6,"1.0"]
["C3550789","THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA",724,6,"1.0"]
["C3550856","ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES",724,6,"1.0"]
["C0175709","Centronuclear myopathy",682,6,"0.8546918196130492"]
["C0410207","Tubular Aggregate Myopathy",682,6,"0.6631948388596702"]
["C0752282","Congenital Structural Myopathy",682,6,"0.9232303378560696"]
["C1834558","Myopathy, Centronuclear, Autosomal Dominant",682,6,"0.803101685997116"]
["C3645536","Autosomal Recessive Centronuclear Myopathy",682,6,"0.866695872504498"]
["C3661489","Autosomal Dominant Myotubular Myopathy",682,6,"0.9192655950558108"]
["C0025637","Methemoglobinemia",658,6,"0.35530870263789033","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272087","Congenital Methemoglobinemia",658,6,"0.7408610909015111","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2749559","Methemoglobinemia, Type I",658,6,"0.8600842424357462"]
["C2749560","Methemoglobinemia, Type Ii",658,6,"0.8600842424357462"]
["C2749561","Nadh-Cytochrome B5 Reductase Deficiency, Type I",658,6,"0.8600842424357462"]
["C2749562","Nadh-Cytochrome B5 Reductase Deficiency, Type Ii",658,6,"0.8600842424357462"]
["C0409896","Familial chondrocalcinosis",605,6,"0.8107807238763005","Diseases of the musculoskeletal system and connective tissue"]
["C0553730","Calcium pyrophosphate deposition disease",605,6,"0.25544011358995566","Diseases of the musculoskeletal system and connective tissue"]
["C0856830","Calcium pyrophosphate arthropathy",605,6,"0.8107807238763005"]
["C1852502","CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",605,6,"0.8018733275064214"]
["C3279807","CRANIOECTODERMAL DYSPLASIA 3",605,6,"0.7028732630561377"]
["C4025258","Polyarticular chondrocalcinosis",605,6,"0.8107807238763005"]
["C0796124","Proud Syndrome",592,6,"0.9403819438830305"]
["C0796244","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)",592,6,"0.9403819438830305"]
["C0796250","PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME",592,6,"0.7277606204613148"]
["C1846171","Lissencephaly, X-Linked, 2",592,6,"0.9403819438830305"]
["C1846172","Hydranencephaly and Abnormal Genitalia",592,6,"0.9403819438830305"]
["C3463992","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1",592,6,"0.8317749686210503"]
["C0024214","Lymphangiectasis",530,6,"0.6760153254740777","Diseases of the circulatory system"]
["C0024236","Lymphedema",530,6,"-0.03265059806078997"]
["C0238261","Lymphedema praecox",530,6,"-0.10396767524034861","Diseases of the circulatory system"]
["C1313885","Hereditary edema of legs",530,6,"0.6760153254740776"]
["C1704423","Milroy Disease",530,6,"0.535007958582348","Congenital malformations, deformations and chromosomal abnormalities"]
["C4014628","LYMPHEDEMA, HEREDITARY, ID",530,6,"0.36209830077269245"]
["C0543968","Cone dysfunction syndrome",476,6,"0.9195113948520234"]
["C1844776","CONE-ROD DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1844777","CONE DYSTROPHY, X-LINKED, 1",476,6,"0.982799499958127"]
["C1845667","RETINITIS PIGMENTOSA 3",476,6,"0.9810461578484403"]
["C2749137","Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness",476,6,"0.982799499958127"]
["C3151784","MACULAR DEGENERATION, X-LINKED ATROPHIC",476,6,"0.982799499958127"]
["C0033805","Pseudohypoaldosteronism",465,6,"0.9073194465792669"]
["C0268436","Pseudohypoaldosteronism, Type I",465,6,"0.8516603464180327"]
["C1449842","Pseudohypoaldosteronism, Type I, Autosomal Dominant",465,6,"0.8459241119750609"]
["C1449843","Pseudohypoaldosteronism, Type I, Autosomal Recessive",465,6,"0.7669637710651006"]
["C1449844","Pseudohypoaldosteronism, Type II",465,6,"0.8831743254279572"]
["C2713447","Hyperpotassemia and Hypertension, Familial",465,6,"0.9145633486790216"]
["C2677565","AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder)",438,6,"0.9826350552897193"]
["C2718017","TDP-43 Proteinopathies",438,6,"0.9010351908350996"]
["C3148872","FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150169","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3150171","FTLD-TDP, TARDBP-RELATED",438,6,"0.9826350552897193"]
["C3502417","Amyotrophic Lateral Sclerosis 10",438,6,"0.9826350552897193"]
["C0037278","Skin Diseases, Infectious",420,6,"0.4793991561126819","Diseases of the skin and subcutaneous tissue"]
["C0149778","Soft Tissue Infections",420,6,"0.9162993573373813"]
["C0264515","Pneumonia, Necrotizing",420,6,"0.9415573225512234"]
["C1846130","Mental retardation X-linked, South African type",420,6,"0.9415573225512234"]
["C1846131","Photosensitive tonic-clonic seizures",420,6,"0.9415573225512234"]
["C2678194","Mental Retardation, X-Linked, Syndromic, Christianson Type",420,6,"0.9415573225512234"]
["C0033847","Pseudoxanthoma Elasticum",393,6,"0.6277812709146933"]
["C0376359","Gronblad-Strandberg Syndrome",393,6,"0.7490896919873697"]
["C1867450","Pseudoxanthoma Elasticum, Incomplete",393,6,"0.8318675900603175"]
["C3279392","PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C3279393","PXE, MODIFIER OF SEVERITY OF",393,6,"0.7490896919873695"]
["C4531299","Premature occlusive vascular stenosis",393,6,"0.09607115322396818"]
["C0472761","Homozygous alpha thalassemia",366,6,"0.970112026302299"]
["C0475813","Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder",366,6,"0.9663750839256856"]
["C0795917","Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type",366,6,"0.9701120263022999"]
["C0878520","beta Thalassemia, heterozygous",366,6,"0.8692861543865809"]
["C1260396","Alpha thalassemia intermedia",366,6,"0.970112026302299"]
["C3161174","Hemoglobin H Disease",366,6,"0.9066147473341469"]
["C0432317","Epidermolysis bullosa simplex, Ogna type",351,6,"0.9524686161520819"]
["C2677349","Epidermolysis Bullosa Simplex With Pyloric Atresia",351,6,"0.8428389374271241"]
["C2931072","Epidermolysa bullosa simplex and limb girdle muscular dystrophy",351,6,"0.9524686161520819"]
["C3150989","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q",351,6,"0.9524686161520819"]
["C4024942","Late-onset muscular dystrophy",351,6,"0.7987897505255578"]
["C4225309","EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY",351,6,"0.9524686161520819"]
["C0221259","Trichiasis",348,6,"1.0"]
["C0395973","Recessive sensorineural hearing loss",348,6,"1.0"]
["C0452136","Conductive hearing loss, bilateral",348,6,"1.0","Diseases of the ear and mastoid process"]
["C0478084","Other congenital ichthyosis",348,6,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C1865234","ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS",348,6,"1.0"]
["C2675750","DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)",348,6,"1.0"]
["C0029442","Osteomalacia",339,6,"0.005119648623869788"]
["C0235394","Wasting",339,6,"0.5685219587206719"]
["C0282201","Phosphate Diabetes",339,6,"0.6406903121444236"]
["C0342642","Autosomal dominant hypophosphatemic rickets",339,6,"0.7228593942170659"]
["C1274103","Oncogenic osteomalacia",339,6,"0.4945454270121712"]
["C1704375","Hypophosphatemic Rickets",339,6,"0.37658901230364716"]
["C0393698","Cryptogenic Infantile Spasms",306,6,"0.9757643589272029"]
["C0393699","Symptomatic Infantile Spasms",306,6,"0.9757643589272029"]
["C0546878","Nodding spasm",306,6,"0.9757643589272029"]
["C0553558","Jackknife Seizures",306,6,"0.9757643589272029"]
["C1527306","spasmus nutans",306,6,"0.9757643589272029"]
["C1527366","Salaam Seizures",306,6,"0.8865591049575577","Diseases of the nervous system"]
["C0010273","Craniofacial Dysostosis",268,6,"0.8588026681281741","Congenital malformations, deformations and chromosomal abnormalities"]
["C1852406","Cutis Gyrata Syndrome of Beare And Stevenson",268,6,"0.9112906808164984"]
["C1863391","Vogt Cephalodactyly",268,6,"0.9112906808164984"]
["C1865070","SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION",268,6,"0.9112906808164984"]
["C2931196","Craniofacial dysostosis type 1",268,6,"0.7191212210966239"]
["C3281247","BENT BONE DYSPLASIA SYNDROME",268,6,"0.9112906808164984"]
["C0012715","Iron Metabolism Disorders",241,6,"0.07286689849100723","Endocrine, nutritional and metabolic diseases"]
["C0282193","Iron Overload",241,6,"-0.07758041863174105"]
["C0878682","Ceruloplasmin deficiency",241,6,"0.4789998994576784"]
["C1853733","HEMOCHROMATOSIS, TYPE 4",241,6,"-0.14581722369853062"]
["C1858583","HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA",241,6,"0.26468488753674224"]
["C2931082","Familial apoceruloplasmin deficiency",241,6,"0.49855821913827664"]
["C0000833","Abscess",222,6,"0.581505321423442"]
["C0268419","Acatalasia",222,6,"0.8911954096941628"]
["C0752048","Hypocatalasemia",222,6,"0.8911954096941628"]
["C2931868","Catalase deficiency",222,6,"0.8911954096941628"]
["C2936847","Acatalasemia Japanese type",222,6,"0.8911954096941628"]
["C2936848","Acatalasemia Swiss type",222,6,"0.8911954096941628"]
["C0033300","Progeria",184,6,"0.6345171388494887","Endocrine, nutritional and metabolic diseases"]
["C0270254","Hydrops of placenta",184,6,"0.8972865878833377"]
["C0406585","Lethal tight skin contracture syndrome (disorder)",184,6,"0.7831239416459349"]
["C0685924","Adhesions of temporomandibular joint",184,6,"0.8972865878833377"]
["C1136321","HIV-Associated Lipodystrophy Syndrome",184,6,"0.8938924883299557"]
["C2931375","Temporomandibular ankylosis",184,6,"0.8972865878833377"]
["C0011156","Deficiency Diseases",180,6,"0.36174723865131375"]
["C0035066","Renal Artery Obstruction",180,6,"0.5159609591113244","Diseases of the genitourinary system"]
["C0232197","Fibrillation",180,6,"0.21342216278468734"]
["C0270780","Degenerative myelopathy",180,6,"0.5159609591113244"]
["C3542025","AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE",180,6,"0.1648685959396861"]
["C3825201","Mitochondrial pathology",180,6,"0.4423756692204582"]
["C0020595","Hypoaldosteronism",157,6,"0.1961937930001835","Endocrine, nutritional and metabolic diseases"]
["C0268293","Corticosterone Methyl Oxidase Type I Deficiency",157,6,"0.5550612094891115"]
["C0376185","Hypoaldosteronism, Hyporeninemic",157,6,"0.5550612094891115"]
["C0701163","Adrenogenital disorder",157,6,"0.32536153033283927","Endocrine, nutritional and metabolic diseases"]
["C3463917","Corticosterone Methyl Oxidase Type II Deficiency",157,6,"0.5550612094891115"]
["C3713420","Familial Hyperaldosteronism",157,6,"0.11995130846431504"]
["C0003510","Aortitis Syndrome",156,6,"-0.14479271600563814"]
["C0041228","African Trypanosomiasis",156,6,"-0.05304669301863994","Certain infectious and parasitic diseases"]
["C0085740","Mendelson Syndrome",156,6,"-0.14479271600563814","Diseases of the respiratory system"]
["C0340520","Athlete\\'s heart",156,6,"0.39154354883114173"]
["C1321756","Achalasia",156,6,"-0.20450268771115046","Diseases of the digestive system"]
["C1867403","Pyloric Stenosis, Infantile Hypertrophic 1",156,6,"-0.3744174322734409"]
["C0034155","Purpura, Thrombotic Thrombocytopenic",134,6,"0.5312407558490873","Diseases of the musculoskeletal system and connective tissue"]
["C0857305","Thrombocytopenic purpura",134,6,"0.3659108438937827"]
["C1268935","Congenital Thrombotic Thrombocytopenic Purpura",134,6,"0.757993938688153"]
["C1956258","Familial Thrombotic Thrombocytopenic Purpura",134,6,"0.6165879237346181"]
["C2584778","Thrombotic thrombocytopenic purpura, acquired",134,6,"0.7035526508124396"]
["C2717961","Thrombotic Microangiopathies",134,6,"0.15056548950475487","Diseases of the musculoskeletal system and connective tissue"]
["C0014356","Enterocolitis",112,6,"-0.26023673847019496"]
["C0751422","Hereditary Autoinflammatory Diseases",112,6,"0.4770185289907792"]
["C1096155","Macrophage Activation Syndrome",112,6,"0.4606583798699249"]
["C4015067","AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS",112,6,"0.46628036569364917"]
["C4015276","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4",112,6,"0.46628036569364917"]
["C4225218","AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE",112,6,"-0.1117809686920282"]
["C0031069","Familial Mediterranean Fever",86,6,"0.9229180407194504","Diseases of the musculoskeletal system and connective tissue"]
["C0085574","Palindromic rheumatism",86,6,"0.9279116111185013","Diseases of the musculoskeletal system and connective tissue"]
["C0151859","Polyserositis",86,6,"0.9279116111185013"]
["C0585274","Periodic syndrome",86,6,"0.7999244510282996"]
["C1851347","Familial Mediterranean Fever, Autosomal Dominant",86,6,"0.9279116111185013"]
["C3267073","Autoinflammatory disease",86,6,"0.696311485670011"]
["C0019247","Hereditary Diseases",73,6,"0.8360101580381964"]
["C0037176","Single-Gene Defects",73,6,"0.8425313121540062"]
["C0342646","Vitamin D-Dependent Rickets, Type 2A",73,6,"0.836185209202593"]
["C1956089","Osteophyte",73,6,"0.5536156371508102","Diseases of the musculoskeletal system and connective tissue"]
["C2363065","Vitamin D-resistant rickets",73,6,"0.8425313121540062","Endocrine, nutritional and metabolic diseases"]
["C3536983","Familial Hypophosphatemic Rickets",73,6,"0.19183222630195926"]
["C0030499","Parasitic Diseases",66,6,"0.70907731445352"]
["C0033838","Kimura Disease",66,6,"0.9266062655996742"]
["C0155880","Intrinsic asthma",66,6,"0.9266062655996742","Diseases of the respiratory system"]
["C0311368","Idiopathic eosinophilia",66,6,"0.9266062655996742"]
["C1262481","Eosinophilic gastroenteritis",66,6,"0.9266062655996742"]
["C1322281","Seasonal rhinitis",66,6,"0.9266062655996742"]
["C0235419","Hyperuricemic nephropathy",50,6,"0.997573961104989"]
["C0268113","Familial juvenile gout",50,6,"0.9966212883734452"]
["C1835934","Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria",50,6,"0.997573961104989"]
["C1859040","Medullary Cystic Kidney Disease Type 2",50,6,"0.997573961104989"]
["C3280216","HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3",50,6,"0.997573961104989"]
["C4020705","Glomerulocystic kidney disease",50,6,"0.99059824428434"]
["C0085650","Purpura Fulminans",36,6,"0.8916783680304334","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0398625","Protein C Deficiency",36,6,"0.9422861413937801","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2674321","Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant",36,6,"0.9696119568196485"]
["C2674322","Protein C Deficiency, Acquired",36,6,"0.9696119568196485"]
["C2676759","THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE",36,6,"0.9696119568196485"]
["C2930896","Congenital thrombotic disease, due to Protein C deficiency",36,6,"0.9696119568196485"]
["C0015499","Hereditary Factor V Deficiency",15,6,"0.9904669110156423","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0235522","Disorder of vein",15,6,"0.9904669110156423","Diseases of the circulatory system"]
["C0749087","Thrombosis of subclavian vein",15,6,"0.9904669110156423"]
["C1853831","Bleeding Disorder, East Texas Type",15,6,"0.9904669110156423"]
["C1861171","THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)",15,6,"0.9904669110156423"]
["C2584620","Thrombophilia, hereditary",15,6,"0.9353652690662111","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0007177","Cardiac Tamponade",14,6,"0.729147014733889","Diseases of the circulatory system"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461","Certain infectious and parasitic diseases"]
["C0025309","Meningoencephalitis",14,6,"0.4988036876970461","Diseases of the nervous system"]
["C0085307","Embolism and Thrombosis",14,6,"0.443470289383963"]
["C0750949","Vertebrogenic Pain Syndrome",14,6,"0.7301506248948058"]
["C2676721","Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C2676722","Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator",14,6,"0.7301506248948058"]
["C0043116","HMN (Hereditary Motor Neuropathy) Proximal Type I",4,6,"0.8476156844818349","Diseases of the nervous system"]
["C0152109","Juvenile Spinal Muscular Atrophy",4,6,"0.8970216147428826"]
["C0393538","Muscular Atrophy, Spinal, Type II",4,6,"0.870294302748658"]
["C0700595","Spinal Muscular Atrophies of Childhood",4,6,"0.790786147345337"]
["C1838230","SPINAL MUSCULAR ATROPHY, TYPE IV",4,6,"0.6303982245856342","Diseases of the nervous system"]
["C2931358","Muscular atrophy, spinal, infantile chronic form",4,6,"0.8531152755277495"]
["C0268241","Pancreatic colipase deficiency",2083,5,"1.0"]
["C3280527","PANCREATIC LIPASE DEFICIENCY",2083,5,"1.0"]
["C3280528","COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C3280529","LIPASE AND COLIPASE, DEFICIENCY OF",2083,5,"1.0"]
["C3280530","LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC",2083,5,"1.0"]
["C0860207","Drug-Induced Liver Disease",2047,5,"0.9956175355546922"]
["C1262760","Hepatitis, Drug-Induced",2047,5,"0.9988916089233896"]
["C3658290","Drug-Induced Acute Liver Injury",2047,5,"0.9988890574812221"]
["C4277682","Chemical and Drug Induced Liver Injury",2047,5,"0.9988890574812221"]
["C4279912","Chemically-Induced Liver Toxicity",2047,5,"0.9988890574812221"]
["C1840364","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY",2019,5,"0.673654338282343"]
["C2937288","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT",2019,5,"0.6748968612989924"]
["C2940786","Thyroid Hormone Resistance Syndrome",2019,5,"0.5561212833631795"]
["C3280817","HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6",2019,5,"0.0563628462130201"]
["C3489796","Thyroid Hormone Resistance, Generalized, Autosomal Recessive",2019,5,"0.6748968612989924"]
["C0406740","Kohlschutter Tonz syndrome",1995,5,"0.14818376254225496"]
["C1291560","Deficiency of glutamate decarboxylase",1995,5,"0.5501185709836273"]
["C1849508","EPILEPSY, PYRIDOXINE-DEPENDENT",1995,5,"0.4039462108640794"]
["C4014621","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25",1995,5,"0.2836531644246132"]
["C4310632","EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT",1995,5,"0.2487001495425813"]
["C1850343","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME",1974,5,"0.5511721923257112"]
["C1864389","PREMATURE CHROMATID SEPARATION TRAIT",1974,5,"0.1419757855409024"]
["C2931286","Warburton Anyane Yeboa syndrome",1974,5,"0.5215177041417288"]
["C3279843","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2",1974,5,"0.20760954377828894"]
["C4539839","MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3",1974,5,"0.15638233159140782"]
["C0014378","Enterovirus Infections",1854,5,"0.010236797056306087","Certain infectious and parasitic diseases"]
["C2931008","Congenital disorder of glycosylation type 2A",1854,5,"0.149443061123438"]
["C2931009","Congenital disorder of glycosylation type 2D",1854,5,"0.11198046221541229"]
["C2931011","Congenital disorder of glycosylation, type 2G",1854,5,"0.20045215157456567"]
["C3150876","COG5 congenital disorder of glycosylation",1854,5,"0.16907535155741946"]
["C1847532","MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET",1851,5,"0.9965337209002978"]
["C1850808","Miyoshi myopathy",1851,5,"0.9961809138274639"]
["C1850889","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B",1851,5,"0.9965337209002978"]
["C2931687","Dysferlinopathy",1851,5,"0.9859542812342195"]
["C4511057","Congenital muscular dystrophy Paradas type",1851,5,"0.9965337209002978"]
["C0006849","Oral candidiasis",1850,5,"0.8413149348987934","Certain infectious and parasitic diseases"]
["C0006852","Candidiasis of vagina",1850,5,"0.8515444593020821","Certain infectious and parasitic diseases"]
["C0022408","Arthropathy",1850,5,"0.3414743229593591","Diseases of the musculoskeletal system and connective tissue"]
["C0700345","Candidiasis, Vulvovaginal",1850,5,"0.844857995033026","Certain infectious and parasitic diseases"]
["C0860029","Vaginal Yeast Infections",1850,5,"0.8523649125651104"]
["C0024900","Mastocytosis, Bullous",1847,5,"0.8519229792530103"]
["C0027430","Nasal Polyps",1847,5,"0.40002842088441914","Diseases of the respiratory system"]
["C1835039","Melanosis, Universal",1847,5,"0.8519229792530103"]
["C1840392","HYPERPIGMENTATION, FAMILIAL PROGRESSIVE",1847,5,"0.8519229792530103"]
["C4225241","DEAFNESS, AUTOSOMAL DOMINANT 69",1847,5,"0.8519229792530103"]
["C1836756","ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder)",1833,5,"1.0"]
["C1852597","Arthrogryposis, distal, type 2E",1833,5,"1.0"]
["C1861238","ARTHROGRYPOSIS, DISTAL, TYPE 10",1833,5,"1.0"]
["C1862471","Arthrogryposis-like hand anomaly and sensorineural deafness",1833,5,"1.0"]
["C4015286","MACULAR DEGENERATION, EARLY-ONSET",1833,5,"1.0"]
["C0034888","Rectal Prolapse",1829,5,"0.024202610121139456","Diseases of the digestive system"]
["C0042025","Urinary Stress Incontinence",1829,5,"0.7252449028092532"]
["C0264885","Myxoid transformation of mitral valve",1829,5,"0.8035512099629083"]
["C3554279","CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2",1829,5,"0.7956855749996385"]
["C4509918","Polyvalvular heart disease syndrome",1829,5,"0.8035512099629083"]
["C0263505","Alopecia universalis",1795,5,"0.7599652544730336","Diseases of the skin and subcutaneous tissue"]
["C0477506","Other specified nonscarring hair loss",1795,5,"0.6383419119718972","Diseases of the skin and subcutaneous tissue"]
["C1859592","ATRICHIA WITH PAPULAR LESIONS",1795,5,"0.8345991507240464"]
["C2750815","Marie Unna Hereditary Hypotrichosis 1",1795,5,"0.8169625301232976"]
["C2931059","Marie Unna congenital hypotrichosis",1795,5,"0.7014044744662146"]
["C1859228","Cerebrohepatorenal Syndrome, Variant Types",1771,5,"1.0"]
["C3550234","PEROXISOME BIOGENESIS DISORDER 2B",1771,5,"1.0"]
["C3550273","PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)",1771,5,"1.0"]
["C3550274","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2",1771,5,"1.0"]
["C4225237","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5",1771,5,"1.0"]
["C0393912","Segmental Autonomic Dysfunction",1765,5,"1.0"]
["C0750944","Peripheral Autonomic Nervous System Diseases",1765,5,"1.0"]
["C0750945","Nervous System Diseases, Parasympathetic",1765,5,"1.0"]
["C0750946","Nervous System Diseases, Sympathetic",1765,5,"1.0"]
["C3151237","Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction",1765,5,"1.0"]
["C0014518","Toxic Epidermal Necrolysis",1761,5,"0.9792880143267102","Diseases of the skin and subcutaneous tissue"]
["C0038325","Stevens-Johnson Syndrome",1761,5,"0.9489095532310959","Diseases of the skin and subcutaneous tissue"]
["C1274933","Drug-Induced Stevens Johnson Syndrome",1761,5,"0.9830270376917698"]
["C3658301","Mycoplasma-Induced Stevens-Johnson Syndrome",1761,5,"0.9826946859372083"]
["C3658302","Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum",1761,5,"0.9839219830945674"]
["C0018523","Hallervorden-Spatz Syndrome",1760,5,"0.4707302901047674","Diseases of the nervous system"]
["C0393577","Pallidal degeneration",1760,5,"0.5824712588268566"]
["C1846582","Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration",1760,5,"0.5824712588268566"]
["C2931845","Neurodegeneration with brain iron accumulation (NBIA)",1760,5,"0.6036299741422387"]
["C3550973","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5",1760,5,"0.0008224967299390304"]
["C0268747","Diffuse mesangial sclerosis (disorder)",1753,5,"0.7469414548670076"]
["C1836876","Pierson syndrome",1753,5,"0.9315031633475364"]
["C3280113","NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES",1753,5,"0.9455386127908967"]
["C3489732","Familial mesangial sclerosis",1753,5,"0.9455386127908967"]
["C3501249","Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome",1753,5,"0.9455386127908967"]
["C0282529","Chondrodysplasia Punctata, Rhizomelic",1752,5,"0.984171769965373","Endocrine, nutritional and metabolic diseases"]
["C1859133","RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1",1752,5,"0.99601650388692"]
["C1866351","Peroxisome Biogenesis Disorder, Complementation Group 11",1752,5,"0.99601650388692"]
["C1866352","Peroxisome Biogenesis Disorder, Complementation Group R",1752,5,"0.99601650388692"]
["C2749346","Refsum Disease, Adult, 2",1752,5,"0.99601650388692"]
["C1837317","Alpha-B Crystallinopathy",1747,5,"1.0"]
["C3151065","Cataract, Posterior Polar, 2",1747,5,"1.0"]
["C3151236","MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED",1747,5,"1.0"]
["C3554649","CARDIOMYOPATHY, DILATED, 1II",1747,5,"1.0"]
["C3808377","CATARACT 16, MULTIPLE TYPES",1747,5,"1.0"]
["C0265205","Robinow Syndrome",1735,5,"0.24041064500963052","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265856","Hypoplasia of right heart",1735,5,"0.5925835487683471"]
["C0344963","Right hypoplastic heart syndrome",1735,5,"0.5925835487683471","Congenital malformations, deformations and chromosomal abnormalities"]
["C4225164","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3",1735,5,"0.5925835487683471"]
["C4225363","ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2",1735,5,"0.055851280077416444"]
["C0023374","Lesch-Nyhan Syndrome",1710,5,"0.8221210310651944","Endocrine, nutritional and metabolic diseases"]
["C0221168","Podagra",1710,5,"0.8225380418005229","Diseases of the musculoskeletal system and connective tissue"]
["C0268117","Gout, HPRT-Related",1710,5,"0.8097022518955959"]
["C0740394","Hyperuricemia",1710,5,"0.03535227515319863"]
["C1845892","Lesch-Nyhan Syndrome, Neurologic Variant",1710,5,"0.8225380418005229"]
["C0403719","Uric acid urolithiasis",1709,5,"0.6422766674534127"]
["C0796028","ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION",1709,5,"0.9223452179428305"]
["C1839566","CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5",1709,5,"0.9223452179428305"]
["C1844677","DEAFNESS, X-LINKED 1 (disorder)",1709,5,"0.9223452179428305"]
["C1970827","Phosphoribosylpyrophosphate Synthetase Superactivity",1709,5,"0.9223452179428305"]
["C0221333","Hypouricemia",1708,5,"0.12946930590856384"]
["C0473219","Renal hypouricemia",1708,5,"0.6077058483608576"]
["C0744466","gout tophaceous",1708,5,"0.730238388189677"]
["C2677549","Hypouricemia, Renal, 2",1708,5,"0.730238388189677"]
["C2677551","GOUT SUSCEPTIBILITY 2",1708,5,"0.730238388189677"]
["C0270972","Cornelia De Lange Syndrome",1694,5,"0.4819065234682655","Congenital malformations, deformations and chromosomal abnormalities"]
["C0271007","Phthisis bulbi",1694,5,"0.1501664216321542","Diseases of the eye and adnexa"]
["C1802395","Congenital muscular hypertrophy-cerebral syndrome",1694,5,"0.45647076903618483"]
["C1853099","Cornelia de Lange Syndrome 3",1694,5,"0.5005762363143055"]
["C2750805","Chromosome 5p13 Duplication Syndrome",1694,5,"0.25504553783696465"]
["C0154748","Lesion of Sciatic Nerve",1685,5,"0.8539797045288393","Diseases of the nervous system"]
["C0242013","Sciatic Neuritis",1685,5,"0.8539797045288393"]
["C0751924","Neuralgia-Neuritis, Sciatic Nerve",1685,5,"0.8539797045288393"]
["C0751925","Sciatic Nerve Palsy",1685,5,"0.8539797045288393"]
["C3809803","MICROPHTHALMIA, SYNDROMIC 12",1685,5,"0.38920436977425665"]
["C0010691","Cystinuria",1676,5,"0.9598935348438771","Endocrine, nutritional and metabolic diseases"]
["C0268643","Cystinuria type 1",1676,5,"0.9679689263949279"]
["C1857388","Cystinuria, Type A",1676,5,"0.9305531689135811"]
["C1857389","Cystinuria, Type B",1676,5,"0.9201215724687526"]
["C1857390","Cystinuria, Type A-B",1676,5,"0.9745055476398384"]
["C1288283","Atrophoderma maculatum",1657,5,"0.08431152027243953"]
["C3281045","CONE-ROD DYSTROPHY 16",1657,5,"0.7784678986723551"]
["C3281046","RETINITIS PIGMENTOSA 64",1657,5,"0.7833253612152383"]
["C4049066","Retinal dystrophy with early macular involvement",1657,5,"0.7663194196614513"]
["C4319932","BARDET-BIEDL SYNDROME 21",1657,5,"0.7833253612152383"]
["C0024776","Maple Syrup Urine Disease",1649,5,"0.907931651562374","Endocrine, nutritional and metabolic diseases"]
["C0268568","Classic Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0268569","Intermittent Maple Syrup Urine Disease",1649,5,"0.9207949251524711"]
["C0751285","Maple Syrup Urine Disease, Thiamine Responsive",1649,5,"0.9207492265223592"]
["C1621920","Intermediate Maple Syrup Urine Disease",1649,5,"0.9027326211047628"]
["C0017919","Glycogen Storage Disease",1644,5,"0.09357119064488169","Endocrine, nutritional and metabolic diseases"]
["C0017927","Glycogen Storage Disease Type VIII",1644,5,"0.5475769958767295"]
["C1844412","Liver Glycogenosis, X-Linked, Type II",1644,5,"0.7599745654210066"]
["C2748941","Glycogen Storage Disease, Type IXA2",1644,5,"0.7599745654210066"]
["C3694531","GLYCOGEN STORAGE DISEASE IXa1",1644,5,"0.7599745654210066"]
["C0029134","Optic Neuritis",1629,5,"0.670851007154409","Diseases of the eye and adnexa"]
["C0085582","Retrobulbar Neuritis",1629,5,"0.6853346079299106","Diseases of the eye and adnexa"]
["C0524679","Neuropapillitis",1629,5,"0.6853346079299106"]
["C3280266","NARCOLEPSY 7",1629,5,"-0.2147329552818631"]
["C4310800","SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE",1629,5,"0.6853346079299106"]
["C3539010","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F",1594,5,"1.0"]
["C3542026","PEROXISOME BIOGENESIS DISORDER 5B",1594,5,"1.0"]
["C3553940","PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)",1594,5,"1.0"]
["C3553941","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5",1594,5,"1.0"]
["C3553942","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10",1594,5,"1.0"]
["C0268465","Phenylketonuria II",1575,5,"0.4285743314487444"]
["C0751434","Classical phenylketonuria",1575,5,"-0.06715292862855793","Endocrine, nutritional and metabolic diseases"]
["C0751435","Hyperphenylalaninaemia",1575,5,"0.3722936123387365"]
["C0751436","Hyperphenylalaninemia, Non-Phenylketonuric",1575,5,"0.5206343467622616"]
["C2678416","Hyperphenylalaninemia, Non-Pku Mild",1575,5,"-0.6040835712210283"]
["C0002170","Alopecia",1559,5,"0.6232994225935022","Diseases of the skin and subcutaneous tissue"]
["C0086873","Pseudopelade",1559,5,"0.8675663369458186","Diseases of the skin and subcutaneous tissue"]
["C0162311","Androgenetic Alopecia",1559,5,"0.7376919596290353","Diseases of the skin and subcutaneous tissue"]
["C0263477","Female pattern alopecia (disorder)",1559,5,"0.8672787683319733"]
["C4083212","Alopecia, Male Pattern",1559,5,"0.843882520910126","Diseases of the skin and subcutaneous tissue"]
["C0685838","Gonadal dysgenesis XX type deafness",1551,5,"0.23712386085493734"]
["C3554105","PERRAULT SYNDROME 2",1551,5,"0.24707933299286597"]
["C3808414","PERRAULT SYNDROME 3",1551,5,"0.31581968578772746"]
["C3809105","PERRAULT SYNDROME 4",1551,5,"0.5180309817283943"]
["C4310761","HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA",1551,5,"0.31372328962368096"]
["C1836010","Spastic Paraplegia, Optic Atrophy, and Neuropathy",1501,5,"0.06864574446665568"]
["C1850386","GIANT AXONAL NEUROPATHY 1",1501,5,"0.06875573939452188"]
["C1858726","Congenital Cataracts, Facial Dysmorphism, And Neuropathy",1501,5,"-0.02918154539702355"]
["C3810230","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6",1501,5,"-0.04945486343765596"]
["C4020811","Length dependent motor neuropathy",1501,5,"0.4003814008500861"]
["C0023501","Leukemoid Reaction",1493,5,"0.5419678429417788","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0259743","Autosomal recessive SCID",1493,5,"0.5419678429417788"]
["C0451694","Severe combined immunodeficiency with low or normal B-cell numbers",1493,5,"0.6248151313098189","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1833275","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative",1493,5,"0.5419678429417788"]
["C3809383","IMMUNODEFICIENCY 8",1493,5,"0.08153646319258152"]
["C1306557","Chronic venous insufficiency",1490,5,"0.4197229613425671","Diseases of the circulatory system"]
["C1832174","DOYNE HONEYCOMB RETINAL DYSTROPHY",1490,5,"0.798773507684412"]
["C1852020","Malattia Leventinese",1490,5,"0.7975088562661501"]
["C1852021","Drusen, Radial, Autosomal Dominant",1490,5,"0.7249682159573787"]
["C4024769","Reticular pigmentary degeneration",1490,5,"0.8097167702994019"]
["C0796037","Martsolf syndrome",1435,5,"0.24826104911836525"]
["C1838625","Warburg Sjo Fledelius syndrome",1435,5,"0.3068136079502932"]
["C3280203","WARBURG MICRO SYNDROME 3",1435,5,"-0.06258504762671371"]
["C3280214","WARBURG MICRO SYNDROME 2",1435,5,"0.23112283544863307"]
["C3810265","WARBURG MICRO SYNDROME 4",1435,5,"-0.06942722286925986"]
["C0267809","Cirrhosis, Cryptogenic",1431,5,"0.999597534729279","Diseases of the digestive system"]
["C0268074","Indian childhood cirrhosis",1431,5,"0.9987025882321154"]
["C1859088","COPPER TOXICOSIS, IDIOPATHIC",1431,5,"0.9996601104552232"]
["C1861556","Cirrhosis, Familial",1431,5,"0.9996601104552232"]
["C1876166","Endemic Tyrolean Infantile Cirrhosis",1431,5,"0.9996601104552232"]
["C0009451","Communicating Hydrocephalus",1423,5,"0.8396907037589559","Diseases of the nervous system"]
["C0270720","Hydrocephalus Ex-Vacuo",1423,5,"0.9282510595005322"]
["C0477432","Post-Traumatic Hydrocephalus",1423,5,"0.9282510595005322","Diseases of the nervous system"]
["C0549423","Obstructive Hydrocephalus",1423,5,"0.8902721931853674","Diseases of the nervous system"]
["C2936786","Aqueductal Stenosis",1423,5,"0.875456687988016"]
["C0155760","Rupture of artery",1420,5,"0.6702383025982454","Diseases of the circulatory system"]
["C0268342","Ehlers-Danlos syndrome type 6",1420,5,"0.6160724138576151"]
["C2676285","Bone Fragility with Contractures, Arterial Rupture, and Deafness",1420,5,"0.11888888322050911"]
["C2936777","Nevo syndrome (disorder)",1420,5,"0.6160724138576151"]
["C4023719","Spontaneous rupture of the globe",1420,5,"0.6160724138576151"]
["C0013384","Dyskinetic syndrome",1418,5,"0.7258266757437264","Diseases of the nervous system"]
["C0152115","Lingual-Facial-Buccal Dyskinesia",1418,5,"0.8372601305365842","Diseases of the nervous system"]
["C0221169","Hemiballismus",1418,5,"0.8988442563550952"]
["C0454606","Oral Dyskinesia",1418,5,"0.8988442563550952"]
["C0752196","Ballismus",1418,5,"0.8988442563550952"]
["C0007273","Carotid Artery Diseases",1403,5,"0.938520421550038"]
["C0577631","Carotid Atherosclerosis",1403,5,"0.9597789293436547"]
["C0600178","External Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750986","Internal Carotid Artery Diseases",1403,5,"0.9792183496005102"]
["C0750987","Arterial Diseases, Common Carotid",1403,5,"0.9792183496005102"]
["C0017097","Gardner Syndrome",1395,5,"0.9840155668779552"]
["C1851124","Desmoid disease, hereditary",1395,5,"0.9845930065586075"]
["C2673218","BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)",1395,5,"0.9845930065586075"]
["C2674616","FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)",1395,5,"0.9347118856385916"]
["C2675440","Desmoid Tumor Caused By Somatic Mutation",1395,5,"0.9845930065586075"]
["C1306229","Dyschromatosis universalis",1386,5,"0.9205461551351056"]
["C1836705","Pseudohyperkalemia, Familial, 2, due to Red Cell Leak",1386,5,"0.9205461551351056"]
["C2930995","Dyschromatosis universalis hereditaria",1386,5,"0.689912666870992"]
["C3281027","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7",1386,5,"0.9205461551351056"]
["C3809394","DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3",1386,5,"0.9205461551351056"]
["C1859534","Bare Lymphocyte Syndrome, Type II, Complementation Group A",1370,5,"0.8243810647433862"]
["C1859535","Bare Lymphocyte Syndrome, Type II, Complementation Group B",1370,5,"0.8315718373433407"]
["C1859536","Bare Lymphocyte Syndrome, Type II, Complementation Group C",1370,5,"0.9107055150077671"]
["C1859537","Bare Lymphocyte Syndrome, Type II, Complementation Group D",1370,5,"0.5460564194605206"]
["C1859538","Bare Lymphocyte Syndrome, Type II, Complementation Group E",1370,5,"0.8338396664022988"]
["C0085293","Hepatitis E",1360,5,"0.32903898421665645"]
["C0276609","Acute type B viral hepatitis",1360,5,"0.6354784963878342","Certain infectious and parasitic diseases"]
["C0520788","Posttransfusion viral hepatitis",1360,5,"0.49133120035388833"]
["C0814152","Viral hepatitis, type G",1360,5,"0.266753976030262"]
["C3839044","Compensated liver disease",1360,5,"0.4712488114866798"]
["C0152457","Kayser-Fleischer ring",1358,5,"0.33703077800327974","Diseases of the eye and adnexa"]
["C0267797","Acute hepatitis",1358,5,"0.41180878040266894","Certain infectious and parasitic diseases"]
["C0268540","HHH syndrome",1358,5,"0.0452162851653521","Endocrine, nutritional and metabolic diseases"]
["C1848456","Atypical or prolonged hepatitis",1358,5,"0.4261864154025783"]
["C4024907","Mixed demyelinating and axonal polyneuropathy",1358,5,"0.4261864154025783"]
["C0038165","Staphylococcal Scalded Skin Syndrome",1340,5,"0.8507218706689105","Diseases of the skin and subcutaneous tissue"]
["C0263314","Pemphigus and fogo selvagem",1340,5,"0.7865291513006659","Diseases of the skin and subcutaneous tissue"]
["C2931122","Keratosis palmoplantaris striata 1",1340,5,"0.8507218706689105"]
["C3809719","ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE",1340,5,"0.704759334739796"]
["C4021575","Diffuse palmoplantar hyperkeratosis",1340,5,"0.6073713585241042"]
["C0751508","Long Sleeper Syndrome",1335,5,"0.9860904291900024"]
["C0751509","Short Sleeper Syndrome",1335,5,"0.970099237328436"]
["C0751510","Sleep-Related Neurogenic Tachypnea",1335,5,"0.9860904291900024"]
["C0751511","Subwakefullness Syndrome",1335,5,"0.9860904291900024"]
["C0851578","Sleep Disorders",1335,5,"0.9622116779491737","Diseases of the nervous system"]
["C0025221","Meleda Disease",1205,5,"0.8852402709319644"]
["C1855644","Keratoderma, Palmoplantar, Norrbotten Recessive Type",1205,5,"0.9758777861766843"]
["C2910342","Inherited keratosis palmaris et plantaris",1205,5,"0.9758777861766843","Congenital malformations, deformations and chromosomal abnormalities"]
["C2910343","Keratosis follicularis [Darier-White]",1205,5,"0.9758777861766843","Congenital malformations, deformations and chromosomal abnormalities"]
["C4024891","Hyperkeratosis with erythema",1205,5,"0.9758777861766843"]
["C0342549","Familial Testotoxicosis",1189,5,"0.7986635229057605"]
["C1504412","Testotoxicosis",1189,5,"0.9446853246923097"]
["C2673497","Leydig Cell Hypoplasia, Type II",1189,5,"0.9446853246923097"]
["C3668935","Luteinizing Hormone Resistance, Female",1189,5,"0.9446853246923097"]
["C3714042","46,XY Disorder of Sex Development Due To LH Defects",1189,5,"0.9446853246923097"]
["C0001623","Adrenal gland hypofunction",1181,5,"-0.13489356862675858"]
["C2751824","46, XY Disorders of Sex Development",1181,5,"0.49819537905360706"]
["C2751825","PREMATURE OVARIAN FAILURE 7 (disorder)",1181,5,"0.6890546489703558"]
["C3151406","SPERMATOGENIC FAILURE 8",1181,5,"0.6890546489703558"]
["C4479664","ADRENAL INSUFFICIENCY, NR5A1-RELATED",1181,5,"0.6890546489703558"]
["C0393953","Anterior Cerebral Circulation Infarction",1161,5,"0.837840459352624"]
["C0751952","Anterior Circulation Brain Infarction",1161,5,"0.837840459352624"]
["C0751953","Brain Infarction, Posterior Circulation",1161,5,"0.837840459352624"]
["C0751954","Venous Infarction, Brain",1161,5,"0.837840459352624"]
["C0751955","Brain Infarction",1161,5,"0.49721082359335383"]
["C0027121","Myositis",1129,5,"0.7716076278102184","Diseases of the nervous system"]
["C0027121","Myositis",1129,5,"0.7716076278102184","Diseases of the musculoskeletal system and connective tissue"]
["C0158353","Myositis, Infectious",1129,5,"0.9258549207337149","Diseases of the musculoskeletal system and connective tissue"]
["C0544796","Myositis, Proliferative",1129,5,"0.9258549207337149"]
["C0751356","Idiopathic Inflammatory Myopathies",1129,5,"0.9176988645439035"]
["C0751357","Myositis, Focal",1129,5,"0.9258549207337149"]
["C1839928","IRIS HYPOPLASIA WITH GLAUCOMA",1128,5,"0.961006916034191"]
["C1866560","IRIDOGONIODYSGENESIS, TYPE 1 (disorder)",1128,5,"0.961006916034191"]
["C1866561","Glaucoma Iridogoniodysplasia, Familial",1128,5,"0.961006916034191"]
["C2678503","AXENFELD-RIEGER SYNDROME, TYPE 3",1128,5,"0.8588045621868305"]
["C3887633","Dandy-Walker Syndrome, Familial",1128,5,"0.961006916034191"]
["C0264694","Chronic myocardial ischemia",1118,5,"0.0008821836519978632","Diseases of the circulatory system"]
["C0795905","Cantu syndrome",1118,5,"0.6824544119503484"]
["C0796280","Acromegaloid facial appearance syndrome",1118,5,"0.7584832467371466"]
["C1837839","CARDIOMYOPATHY, DILATED, 1O",1118,5,"0.7584832467371466"]
["C3279695","ATRIAL FIBRILLATION, FAMILIAL, 12",1118,5,"0.7584832467371466"]
["C1861305","TARSAL-CARPAL COALITION SYNDROME",1108,5,"0.8455958149807696"]
["C1861306","Synostosis of Talus and Calcaneus with Short Stature",1108,5,"0.9539326140162592"]
["C1866656","STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)",1108,5,"0.9539326140162592"]
["C1969652","BRACHYDACTYLY, TYPE B2 (disorder)",1108,5,"0.9539326140162592"]
["C3714899","SYMPHALANGISM, PROXIMAL, 1A",1108,5,"0.933751820815308"]
["C1842382","Epilepsy, Benign Neonatal, 3",1036,5,"0.8967851343553571"]
["C1843140","SEIZURES, BENIGN FAMILIAL INFANTILE, 3",1036,5,"0.5193856339426749"]
["C3150987","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11",1036,5,"0.7853360683812317"]
["C4023515","Dialeptic seizures",1036,5,"0.8967851343553571"]
["C4049830","Focal seizures, afebril",1036,5,"0.8967851343553571"]
["C0393693","Benign Neonatal Epilepsy, Nonfamilial",1035,5,"1.0"]
["C1852587","EPILEPSY, BENIGN NEONATAL, 1",1035,5,"1.0"]
["C2751195","Epilepsy, Benign Neonatal, 1, And-Or Myokymia",1035,5,"1.0"]
["C3149074","SEIZURES, BENIGN FAMILIAL NEONATAL, 1",1035,5,"1.0"]
["C3149075","SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA",1035,5,"1.0"]
["C0152216","Esophoria",1016,5,"1.0","Diseases of the eye and adnexa"]
["C1836929","Emanuel syndrome",1016,5,"1.0"]
["C1861129","Takao VCF Syndrome",1016,5,"1.0"]
["C2675369","Chromosome 22q11.2 Microduplication Syndrome",1016,5,"1.0"]
["C3150966","Supernumerary der(22)t(8"]
["C0079136","Cockayne-Touraine Disease",1010,5,"0.7322344222896144"]
["C0079294","Epidermolysis Bullosa Dystrophica",1010,5,"0.9031338872923486","Congenital malformations, deformations and chromosomal abnormalities"]
["C0079474","Hallopeau-Siemens Disease",1010,5,"0.913570948938204"]
["C2673611","Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant",1010,5,"0.8710299858542615"]
["C2673612","Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive",1010,5,"0.8710299858542615"]
["C0004943","Behcet Syndrome",1002,5,"0.3974089669598293","Diseases of the musculoskeletal system and connective tissue"]
["C0029191","Orchitis",1002,5,"0.22429933198955482","Diseases of the genitourinary system"]
["C0038363","Aphthous Stomatitis",1002,5,"0.5433803540372258"]
["C0149745","Oral Ulcer",1002,5,"-0.02283327277077203"]
["C2937365","Recurrent aphthous ulcer",1002,5,"0.4990763120615616","Diseases of the digestive system"]
["C0268344","Ehlers-Danlos syndrome 6B",974,5,"0.12789306770801656"]
["C1096274","Corneal thinning",974,5,"0.6577658267875326"]
["C1852557","CORNEA PLANA 1",974,5,"0.6681036920231391"]
["C1857574","CORNEA PLANA 2",974,5,"0.6681036920231391"]
["C2748502","CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS",974,5,"0.6681036920231391"]
["C0043194","Wiskott-Aldrich Syndrome",967,5,"0.7437488032996528","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0578878","Inflammation of large intestine",967,5,"0.430353091510817"]
["C1839163","THROMBOCYTOPENIA 1 (disorder)",967,5,"0.8054430976780294"]
["C1839164","Thrombocytopenia, X-Linked, Intermittent",967,5,"0.7979067892266187"]
["C1845987","Neutropenia, Severe Congenital, X-Linked",967,5,"0.72608494628861"]
["C0015456","Facial Dermatoses",941,5,"1.0"]
["C0015704","Favre-Racouchot Syndrome",941,5,"1.0"]
["C0343097","Nodular Elastoidosis",941,5,"1.0"]
["C3151189","C9 Deficiency",941,5,"1.0"]
["C3810042","MACULAR DEGENERATION, AGE-RELATED, 15",941,5,"1.0"]
["C0149841","Benign recurrent intrahepatic cholestasis",930,5,"-0.21421721799221513"]
["C0268312","Progressive intrahepatic cholestasis (disorder)",930,5,"0.19100678841023794"]
["C0268318","Cholestasis of pregnancy",930,5,"0.5675944287973125"]
["C0742395","Cholestasis, chronic",930,5,"0.046384677680306186"]
["C3489728","Familial intrahepatic cholestasis of pregnancy",930,5,"0.5343314475850656"]
["C1862839","Anterior segment mesenchymal dysgenesis",917,5,"0.6038038974017329"]
["C1864567","CATARACT, POSTERIOR POLAR, 4 (disorder)",917,5,"0.9202954405633545"]
["C1970386","Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities",917,5,"0.9202954405633545"]
["C3808029","CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES",917,5,"0.9202954405633545"]
["C4305131","Cataract glaucoma syndrome",917,5,"0.9202954405633545"]
["C0005129","Bernard-Soulier Syndrome",900,5,"0.9637599891533624"]
["C1856447","Bernard-Soulier Syndrome, Type B",900,5,"0.9580461183084688"]
["C1856448","Bernard-Soulier Syndrome, Type C",900,5,"0.9522352474823209"]
["C2713537","Deficiency of Platelet Glycoprotein 1b",900,5,"0.9783915068927658"]
["C3278148","BERNARD-SOULIER SYNDROME, TYPE A1",900,5,"0.935479939014467"]
["C0270733","Striatonigral Degeneration",886,5,"0.63782679517134","Diseases of the nervous system"]
["C0393911","Pure Autonomic Failure",886,5,"0.6358882719830289"]
["C1843920","COENZYME Q10 DEFICIENCY",886,5,"0.6931402963068859"]
["C2677589","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9",886,5,"-0.15877879366646372"]
["C3551954","COENZYME Q10 DEFICIENCY, PRIMARY, 1",886,5,"0.596994348389225"]
["C0238590","Acrogeria",836,5,"0.917843561336474"]
["C0268337","Ehlers-Danlos syndrome, type 3 (disorder)",836,5,"0.5380594680060918"]
["C0268338","Ehlers-Danlos Syndrome, Type IV",836,5,"0.8376654568259521"]
["C0406584","Acrogeria, gottron type",836,5,"0.917843561336474"]
["C1853365","AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1",836,5,"0.917843561336474"]
["C1832370","MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED",832,5,"0.8459986562511765"]
["C1858154","CARDIOMYOPATHY, DILATED, 1I",832,5,"0.8344094586458832"]
["C1867005","Scapuloperoneal Syndrome, Neurogenic, Kaeser Type",832,5,"0.8344094586458832"]
["C2678065","Myofibrillar Myopathy",832,5,"0.03739902764278757"]
["C3809137","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R",832,5,"0.8344094586458832"]
["C0085623","Akinesia",821,5,"0.12382033685444625"]
["C1276035","Pena-Shokeir syndrome type I",821,5,"0.3970540515786081"]
["C1837092","Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency",821,5,"-0.025886258924263023"]
["C4225367","MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"0.18646269144342278"]
["C4225368","MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",821,5,"-0.13461018234663405"]
["C1836694","Striatal Degeneration, Autosomal Dominant",820,5,"1.0"]
["C3280094","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3",820,5,"1.0"]
["C4022417","Degeneration of the striatum",820,5,"1.0"]
["C4024947","Symmetric lesions of the basal ganglia",820,5,"1.0"]
["C4310808","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1",820,5,"1.0"]
["C1449718","Endocrine Breast Diseases",816,5,"1.0"]
["C1785148","RAPP-HODGKIN SYNDROME",816,5,"1.0"]
["C1851878","OROFACIAL CLEFT 8",816,5,"1.0"]
["C1851879","Cleft Lip with or without Cleft Palate, Nonsyndromic, 8",816,5,"1.0"]
["C1858562","ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3",816,5,"1.0"]
["C0039240","Supraventricular tachycardia",788,5,"0.7970436908833612","Diseases of the circulatory system"]
["C0264906","Second degree atrioventricular block",788,5,"0.955702896673057","Diseases of the circulatory system"]
["C3554018","SINOATRIAL NODE DYSFUNCTION AND DEAFNESS",788,5,"0.955702896673057"]
["C3809609","PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES",788,5,"0.955702896673057"]
["C4023501","Focal myoclonic seizures",788,5,"0.955702896673057"]
["C0008525","Choroideremia",784,5,"0.005265973717552532","Diseases of the eye and adnexa"]
["C0344297","Choroidal sclerosis",784,5,"0.5706909950367378","Diseases of the eye and adnexa"]
["C1536451","Central areolar choroidal sclerosis",784,5,"0.08872272413980947"]
["C1866293","Retinal cone dystrophy 2",784,5,"0.4651974492645146"]
["C2931258","Amaurosis congenita of Leber, type 1",784,5,"0.32651852497600636"]
["C1832916","Timothy syndrome",771,5,"0.9987226963078668"]
["C1955768","Potassium sensitive periodic paralysis",771,5,"0.999680409462536"]
["C2678478","Brugada Syndrome 3",771,5,"0.999680409462536"]
["C2875318","Myotonic periodic paralysis (familial)",771,5,"0.999680409462536"]
["C2875319","Normokalemic paralysis (familial)",771,5,"0.999680409462536"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966","Certain infectious and parasitic diseases"]
["C0152025","Polyneuropathy",752,5,"0.3786746003358966","Diseases of the nervous system"]
["C0271683","Polyneuropathy, Motor",752,5,"0.6097223738829489"]
["C0393851","Polyneuropathy, Critical Illness",752,5,"0.6954672334595603","Diseases of the nervous system"]
["C0751448","Polyneuropathy, Familial",752,5,"0.7015166355769995"]
["C0751449","Acquired Polyneuropathy",752,5,"0.6954672334595603"]
["C0006112","Brain Diseases, Metabolic",718,5,"0.999999999999999","Diseases of the nervous system"]
["C0750968","Central Nervous System Metabolic Disorders",718,5,"0.999999999999999"]
["C0751743","Metabolic Disorder, Central Nervous System, Acquired",718,5,"0.999999999999999"]
["C0751744","Brain Diseases, Metabolic, Acquired",718,5,"0.999999999999999"]
["C1135773","Acquired Metabolic Diseases, Nervous System",718,5,"0.999999999999999"]
["C0342790","Carnitine palmitoyl transferase 2 deficiency",717,5,"1.0"]
["C1833508","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET",717,5,"1.0"]
["C1833511","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE",717,5,"1.0"]
["C1833518","CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL",717,5,"1.0"]
["C1837273","Long-chain dicarboxylic aciduria",717,5,"1.0"]
["C0018022","Endemic goiter",678,5,"0.622590013900868","Endocrine, nutritional and metabolic diseases"]
["C0302859","Euthyroid Goiter",678,5,"0.8190903156047202"]
["C0342208","Multinodular goiter",678,5,"0.6026990144130777"]
["C1846034","Euthyroid multinodular goiter",678,5,"0.8674578999222015"]
["C4053514","Nasal Chondromesenchymal Hamartoma",678,5,"0.8674578999222015"]
["C0151861","Porphyruria",677,5,"0.9634850647942104"]
["C0162532","Variegate Porphyria",677,5,"0.9623990137227103"]
["C0342860","Homozygous variegate porphyria",677,5,"0.9634850647942104"]
["C2936913","Porphyria, South African type",677,5,"0.7202083516845885"]
["C3149848","VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT",677,5,"0.9634850647942104"]
["C0272315","Coagulation factor deficiency syndrome",639,5,"0.4016372355927287"]
["C0272323","Moderate hereditary factor VIII deficiency disease",639,5,"0.6706288898742829"]
["C0472801","Hemophilia A carrier",639,5,"0.7816274237700827"]
["C1096116","Acquired haemophilia",639,5,"0.8585073024109673","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2873785","Deficiency of factor V [labile]",639,5,"0.8585073024109673","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0151281","Genital ulcers",626,5,"1.0"]
["C1865370","Severe combined immunodeficiency with sensitivity to ionizing radiation",626,5,"1.0"]
["C1865371","SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE",626,5,"1.0"]
["C1865372","Athabaskan severe combined immunodeficiency",626,5,"1.0"]
["C1865373","SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL",626,5,"1.0"]
["C0024904","Mastoiditis",625,5,"0.5397767986895767","Diseases of the ear and mastoid process"]
["C0477324","Other combined immunodeficiencies",625,5,"0.5070714535312029","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1832322","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive",625,5,"0.7021714179644835"]
["C2673536","Combined Cellular And Humoral Immune Defects With Granulomas",625,5,"0.6862667366504737"]
["C2931884","Reticuloendotheliosis, familial, with eosinophilia",625,5,"0.5123414584424772"]
["C0023003","Langer-Giedion Syndrome",619,5,"0.6029616457186685"]
["C0265255","Trichorhinophalangeal syndrome",619,5,"0.8493397346442323"]
["C0432233","Trichorhinophalangeal dysplasia type I",619,5,"0.9269340348085162"]
["C1860823","Trichorhinophalangeal Syndrome, Type III",619,5,"0.9269340348085162"]
["C1860826","Coxa Magna",619,5,"0.9269340348085162","Diseases of the musculoskeletal system and connective tissue"]
["C0151940","Hypocalcemic tetany",615,5,"0.356739614067792"]
["C0265291","Kenny-Caffey syndrome",615,5,"0.8215417071071002"]
["C1865639","Gracile bone dysplasia",615,5,"0.7683247796548692"]
["C4022179","Stenosis of the medullary cavity of the long bones",615,5,"0.47691330616982575"]
["C4316787","Kenny-Caffey syndrome, type 2",615,5,"0.8337957501875747"]
["C0021099","Impetigo",596,5,"0.7394560861547314","Diseases of the skin and subcutaneous tissue"]
["C0031350","Pharyngitis",596,5,"0.8016372804806775"]
["C0036285","Scarlet Fever",596,5,"0.7394560861547314","Certain infectious and parasitic diseases"]
["C0036689","Streptococcal sore throat",596,5,"0.4528640899527099","Diseases of the respiratory system"]
["C0238124","Necrotizing fasciitis",596,5,"0.7802395874046979","Diseases of the musculoskeletal system and connective tissue"]
["C0268285","Adrenal hyperplasia, congenital, type 5",594,5,"0.8345837062826842"]
["C1291314","Deficiency of monooxygenase",594,5,"0.638464011983188"]
["C1291557","Deficiency of lyase",594,5,"0.8755887536869028"]
["C3277849","17,20-Lyase Deficiency, Isolated",594,5,"0.9026646512032017"]
["C4329212","17-Alpha-Hydroxylase/17,20 Lyase Deficiency",594,5,"0.8972134193349166"]
["C0043325","Xanthomatosis",584,5,"-0.28826065805726636"]
["C0155210","Eyelid Xanthoma",584,5,"0.3674240844513875","Diseases of the eye and adnexa"]
["C0221253","Xanthoma tendinosum",584,5,"-0.06169454922314334"]
["C0302314","Xanthoma",584,5,"0.23136353835168352"]
["C4280602","Xanthelasma of periocular region",584,5,"0.38020978048416476"]
["C0004608","Retinopathy background",579,5,"0.5498824121417797","Diseases of the eye and adnexa"]
["C0035344","Retinopathy of Prematurity",579,5,"0.3892944291981859","Diseases of the eye and adnexa"]
["C0423361","Posterior Vitreous Detachment",579,5,"0.2491610862225742"]
["C1851402","Exudative vitreoretinopathy 1",579,5,"0.6270248823087708"]
["C4072980","Exudative vitreoretinopathy",579,5,"0.6501299474582313"]
["C0155016","Color Blindness, Red-Green",569,5,"-0.12681566353867835"]
["C0339537","Cone monochromatism",569,5,"0.46880066590109065"]
["C2931753","Achromatopsia incomplete, X-linked",569,5,"0.46880066590109054"]
["C3887937","CONE DYSTROPHY 5, X-LINKED",569,5,"0.6526334772650098"]
["C3887938","COLORBLINDNESS, PARTIAL, DEUTAN SERIES",569,5,"0.6411923191078364","Diseases of the eye and adnexa"]
["C0024586","Malignant Carcinoid Syndrome",542,5,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0342777","Succinate-coenzyme Q reductase deficiency",542,5,"1.0"]
["C1868633","Paragangliomas with Sensorineural Hearing Loss",542,5,"1.0"]
["C3532243","Fatal infantile mitochondrial cardiomyopathy",542,5,"1.0"]
["C3554516","COWDEN SYNDROME 3",542,5,"1.0"]
["C0079584","Ichthyosis Vulgaris",529,5,"0.7226051605141587","Congenital malformations, deformations and chromosomal abnormalities"]
["C0239816","Hand eczema",529,5,"0.8374027201381419"]
["C1304345","Occupational irritant contact dermatitis",529,5,"0.8520279601616959"]
["C1853965","Dermatitis, Atopic, 2",529,5,"0.8520279601616959"]
["C3662483","Allergic sensitization",529,5,"0.36999745758899866"]
["C0857069","Chronic candidiasis",526,5,"1.0"]
["C1535942","Polyglandular Type III Autoimmune Syndrome",526,5,"1.0"]
["C1855868","Polyglandular Deficiency Syndrome, Persian-Jewish Type",526,5,"1.0"]
["C1855869","Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant",526,5,"1.0"]
["C2749602","AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA",526,5,"1.0"]
["C0025237","Melnick-Needles Syndrome",520,5,"0.6573075373942258"]
["C0029422","Osteochondrodysplasias",520,5,"0.6161965497015768","Congenital malformations, deformations and chromosomal abnormalities"]
["C0036391","Schwartz-Jampel Syndrome",520,5,"0.4348268719618732","Diseases of the nervous system"]
["C0038015","Spondyloepiphyseal Dysplasia",520,5,"0.7185519019790299"]
["C0432272","Van Buchem disease",520,5,"0.6125038424618423"]
["C0265221","Walker-Warburg congenital muscular dystrophy",511,5,"0.8537533389841776"]
["C0410174","Fukuyama Type Congenital Muscular Dystrophy",511,5,"0.608916737145252"]
["C0457133","Muscle eye brain disease",511,5,"0.8659301971816264"]
["C1836373","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K",511,5,"0.8400445147776083"]
["C2936406","alpha-Dystroglycanopathies",511,5,"0.8752372620671574"]
["C0265334","Pachyonychia Congenita",505,5,"0.5066577279157924"]
["C1706595","Pachyonychia Congenita, Jadassohn Lewandowsky Type",505,5,"0.5959948543178978"]
["C1721007","Pachyonychia Congenita, Type 2 (disorder)",505,5,"0.6437492736140644"]
["C2931923","Hyperkeratosis of the palms and soles and esophageal papillomas",505,5,"0.23935724829571572"]
["C3671377","Sebocystomatosis",505,5,"0.2608697347571866"]
["C0220695","Neurofibromatosis, type 4, of Riccardi",499,5,"0.6451346432361986"]
["C0553586","Cafe-au-lait macules with pulmonary stenosis",499,5,"0.7591718276163568"]
["C1834235","NEUROFIBROMATOSIS, FAMILIAL SPINAL",499,5,"0.8553011669841458"]
["C2931482","Neurofibromatosis-Noonan syndrome",499,5,"0.8438955244621819"]
["C3150928","NF1 Microdeletion Syndrome",499,5,"0.8553011669841458"]
["C0019295","Inguinal Hernia, Direct",496,5,"1.0","Diseases of the digestive system"]
["C0019296","Inguinal Hernia, Indirect",496,5,"1.0","Diseases of the digestive system"]
["C2674574","Aortic aneurysm, familial thoracic 3",496,5,"1.0"]
["C2674876","LOEYS-DIETZ SYNDROME, TYPE 1B",496,5,"1.0"]
["C2931058","Marfan Syndrome type 2",496,5,"1.0"]
["C0023786","Mucopolysaccharidosis I",493,5,"0.965237449560845","Endocrine, nutritional and metabolic diseases"]
["C0026708","Mucopolysaccharidosis V",493,5,"0.9654838323509379","Endocrine, nutritional and metabolic diseases"]
["C0086431","Hurler-Scheie Syndrome",493,5,"0.9655523308667896","Endocrine, nutritional and metabolic diseases"]
["C0086795","Pfaundler-Hurler Syndrome",493,5,"0.8563878988778794","Endocrine, nutritional and metabolic diseases"]
["C2713321","alpha-L-Iduronidase Deficiency",493,5,"0.9582849741664277"]
["C0272236","Hyperimmunoglobulin M syndrome",486,5,"0.6684486172681899"]
["C0333997","Lymphoid hyperplasia",486,5,"0.4251036218063374"]
["C1720956","Hyper-IgM Immunodeficiency Syndrome, Type 2",486,5,"0.7661506134908216"]
["C1720957","Hyper-IgM Immunodeficiency Syndrome, Type 3",486,5,"0.641856639431758"]
["C1720958","Hyper-IgM Immunodeficiency Syndrome, Type 5",486,5,"0.6446390072270244"]
["C0281967","Retinal infarction",471,5,"0.9949322243477006"]
["C1846837","Aortic Aneurysm, Familial Thoracic 2",471,5,"0.9949322243477006"]
["C2673186","Aortic Aneurysm, Familial Thoracic 6",471,5,"0.9798631102931447"]
["C3151201","MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME",471,5,"0.9949322243477006"]
["C3279690","MOYAMOYA DISEASE 5",471,5,"0.9949322243477006"]
["C0012819","Diverticular disease of colon",459,5,"0.3302093137892965","Diseases of the digestive system"]
["C0149754","Cellulitis of periorbital region",459,5,"0.3207606961331051"]
["C0175702","Williams Syndrome",459,5,"0.4229074028567417","Congenital malformations, deformations and chromosomal abnormalities"]
["C0345030","Peripheral pulmonary artery stenosis",459,5,"0.3365089000494293"]
["C4025788","Nystagmus-induced head nodding",459,5,"0.4324756212869811"]
["C0021933","Intussusception",442,5,"0.1303982126527871","Diseases of the digestive system"]
["C0031269","Peutz-Jeghers Syndrome",442,5,"0.7602155308122964","Congenital malformations, deformations and chromosomal abnormalities"]
["C0282207","Cronkhite-Canada Syndrome",442,5,"0.7870149386653003"]
["C1257915","Intestinal Polyposis",442,5,"0.6674374394348682"]
["C1333088","Colonic hamartomatous polyps",442,5,"0.7870149386653003"]
["C0085435","Arthritis, Reactive",421,5,"0.23011315671652383","Diseases of the musculoskeletal system and connective tissue"]
["C0175708","Chronic rheumatic heart disease",421,5,"0.7649934920516644","Diseases of the circulatory system"]
["C0543698","Hypersensitive syndrome",421,5,"0.6531657451922412"]
["C2363973","Chronic thromboembolic pulmonary hypertension",421,5,"0.7649934920516644","Diseases of the circulatory system"]
["C3697982","Pulmonary arterial hypertension associated with connective tissue disease",421,5,"0.7649934920516644"]
["C0009021","Clonorchiasis",404,5,"0.9069913849348212","Certain infectious and parasitic diseases"]
["C1328840","Autoimmune Lymphoproliferative Syndrome",404,5,"0.6372823118916188","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1866119","Autoimmune Lymphoproliferative Syndrome, Type IA",404,5,"0.8203834261966991"]
["C1866120","Autoimmune Lymphoproliferative Syndrome, Type IB",404,5,"0.8998457705614077"]
["C1866121","Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive",404,5,"0.9118170574071562"]
["C1836727","Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease",397,5,"0.803711584190723"]
["C1866425","Yemenite deaf-blind hypopigmentation syndrome",397,5,"0.8163790814376333"]
["C2700265","Waardenburg Syndrome Type 2",397,5,"0.038494415989644315"]
["C2700405","WAARDENBURG SYNDROME, TYPE IIE",397,5,"0.7457627395862221"]
["C2750452","Waardenburg Syndrome, Type 4c",397,5,"0.8201776343230832"]
["C1504404","Hippocampal sclerosis",377,5,"0.08852767818615044","Diseases of the nervous system"]
["C1843792","FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED",377,5,"0.8306678640757466"]
["C3539123","CEROID LIPOFUSCINOSIS, NEURONAL, 11",377,5,"0.8127624006985731"]
["C4022574","Limb apraxia",377,5,"0.8127624006985731"]
["C4275079","Posterior cortical atrophy syndrome",377,5,"0.8127624006985731"]
["C0270951","Ocular muscular dystrophy",375,5,"0.9975255625889035","Diseases of the nervous system"]
["C2875311","Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy",375,5,"0.9975255625889035"]
["C2875312","Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss]",375,5,"0.9975255625889035"]
["C2875313","Severe [Duchenne] muscular dystrophy",375,5,"0.9897582487876501","Diseases of the nervous system"]
["C3264046","Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber",375,5,"0.9975255625889035"]
["C0002875","Cooley\\'s anemia",368,5,"0.8828102936269085","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0005283","beta Thalassemia",368,5,"0.839970327130204","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0019025","Hemoglobin F Disease",368,5,"0.7549391805570667","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0085578","Thalassemia Minor",368,5,"0.8928449628993987","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0271979","Thalassemia Intermedia",368,5,"0.8946090624648249","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0013575","Ectodermal Dysplasia",350,5,"0.31489489146451083"]
["C0162361","Hidrotic Ectodermal Dysplasia",350,5,"0.6903902580596716"]
["C2675235","Deafness, Autosomal Recessive 1b",350,5,"0.6684020847974365"]
["C2675237","Deafness, Autosomal Dominant 3B",350,5,"0.6684020847974365"]
["C4021534","Adult onset sensorineural hearing impairment",350,5,"0.6684020847974365"]
["C1843013","Alzheimer disease, familial, type 3",344,5,"0.9985003284278706"]
["C1843014","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques",344,5,"0.9996247206634815"]
["C1843015","Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia",344,5,"0.9996247206634815"]
["C3151038","ACNE INVERSA, FAMILIAL, 3",344,5,"0.9996247206634815"]
["C3160720","Cardiomyopathy, Dilated, 1u",344,5,"0.9996247206634815"]
["C0795927","Deafness, congenital onychodystrophy, recessive form",327,5,"0.9411293476366208"]
["C0795934","Digitorenocerebral Syndrome",327,5,"0.9411293476366208"]
["C2829265","DEAFNESS, AUTOSOMAL RECESSIVE 86",327,5,"0.9411293476366208"]
["C3809173","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16",327,5,"0.6826169017122271"]
["C3892048","DEAFNESS, AUTOSOMAL DOMINANT 65",327,5,"0.9411293476366208"]
["C0023600","Leydig cell hyperplasia",308,5,"0.9936041361873322"]
["C0043019","Lateral Medullary Syndrome",308,5,"0.9936041361873322","Diseases of the nervous system"]
["C0342386","Follicle stimulating hormone deficiency",308,5,"0.9936041361873322"]
["C0403824","Teratozoospermia",308,5,"0.9753882553379186"]
["C1856716","Follicle-stimulating hormone deficiency, isolated",308,5,"0.9927611091750643"]
["C0394004","Congenital non-progressive ataxia",285,5,"0.9487477937836131","Diseases of the nervous system"]
["C0431401","Gillespie syndrome",285,5,"0.5844157068506963"]
["C1847725","SPINOCEREBELLAR ATAXIA 15",285,5,"0.9487477937836131"]
["C1861732","SPINOCEREBELLAR ATAXIA 29",285,5,"0.9484624898457585"]
["C4274987","Spinocerebellar ataxia type 29",285,5,"0.9487477937836131"]
["C0221405","Pituitary cachexia",283,5,"0.9999999999999991","Endocrine, nutritional and metabolic diseases"]
["C0271577","Isolated gonadotropin deficiency",283,5,"0.9999999999999991","Endocrine, nutritional and metabolic diseases"]
["C0342381","Idiopathic growth hormone deficiency",283,5,"0.9999999999999991","Endocrine, nutritional and metabolic diseases"]
["C2874188","Isolated deficiency of pituitary hormone",283,5,"0.9999999999999991","Endocrine, nutritional and metabolic diseases"]
["C2874190","Pituitary short stature",283,5,"0.9999999999999991","Endocrine, nutritional and metabolic diseases"]
["C0079102","Cerebral Thrombosis",214,5,"0.9997142145682152"]
["C0752143","Intracranial Thrombosis",214,5,"0.9999305831622785"]
["C0752144","Brain Thrombosis",214,5,"0.9999305831622785"]
["C0936261","Brain Thrombus",214,5,"0.9999305831622785"]
["C0936263","Cerebral Thrombus",214,5,"0.9999305831622785"]
["C0008058","Chilblains",206,5,"1.0","Injury, poisoning and certain other consequences of external causes"]
["C0275544","Congenital infectious disease",206,5,"1.0"]
["C0477365","Other specified degenerative diseases of nervous system",206,5,"1.0","Diseases of the nervous system"]
["C1860518","Vasculopathy, Retinal, With Cerebral Leukodystrophy",206,5,"1.0"]
["C3150315","AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT",206,5,"1.0"]
["C0342731","Deficiency of mevalonate kinase",203,5,"0.9936375863286852","Diseases of the musculoskeletal system and connective tissue"]
["C0398691","Hyperimmunoglobulinemia D",203,5,"0.9949891603140953"]
["C1835875","Normocytic hypoplastic anemia",203,5,"0.997303787706911"]
["C1867981","POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1",203,5,"0.997303787706911"]
["C1959626","Mevalonic Aciduria",203,5,"0.997303787706911"]
["C0022595","Keratosis Follicularis",174,5,"0.993553555124405","Endocrine, nutritional and metabolic diseases"]
["C0265971","Acrokeratosis Verruciformis of Hopf",174,5,"0.9983831783696103"]
["C0341047","Hypertrophy of parotid gland",174,5,"0.9983831783696103"]
["C1852296","Darier Disease, Acral Hemorrhagic Type",174,5,"0.9983831783696103"]
["C1852297","Darier Disease, Segmental",174,5,"0.9983831783696103"]
["C0002016","Aleutian Mink Disease",133,5,"0.4769824940576306"]
["C0221028","Neonatal thrombocytopenia (disorder)",133,5,"0.8635815007906218"]
["C0598221","Hereditary protein C deficiency",133,5,"0.8635815007906218"]
["C2585959","Homozygous protein C deficiency",133,5,"0.8635815007906218"]
["C2585960","Heterozygous protein C deficiency",133,5,"0.8635815007906218"]
["C0014733","Erysipelas",120,5,"0.0994620986398351","Certain infectious and parasitic diseases"]
["C0024215","Lymphangiectasis, Intestinal",120,5,"0.7817917811240498"]
["C0340834","Hennekam lymphangiectasia lymphedema syndrome",120,5,"0.46773680018254765"]
["C0455990","Immune Hydrops Fetalis",120,5,"0.7817917811240498","Certain conditions originating in the perinatal period"]
["C4012050","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1",120,5,"0.7817917811240498"]
["C0035091","Renal Tubular Transport, Inborn Errors",99,5,"0.9937074676075695"]
["C0403720","X-linked recessive nephrolithiasis with renal failure",99,5,"0.9937074676075695"]
["C0878681","Dent\\'s disease",99,5,"0.9769875755651893"]
["C1839874","Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis",99,5,"0.9937074676075695"]
["C1848336","Dent disease 1",99,5,"0.9949918590282251"]
["C0030360","Papillon-Lefevre Disease",96,5,"0.9771482722452537"]
["C0031106","Periodontitis, Juvenile",96,5,"0.9124733506672643","Diseases of the digestive system"]
["C0600298","Periodontosis",96,5,"0.9774677082030622","Diseases of the digestive system"]
["C1855627","HAIM-MUNK SYNDROME",96,5,"0.9774677082030622"]
["C2713394","Haim-Monk Syndrome",96,5,"0.9774677082030622"]
["C0003869","Arthritis, Infectious",70,5,"0.688175972360719","Diseases of the musculoskeletal system and connective tissue"]
["C0003875","Arthritis, Viral",70,5,"0.8890464424428296"]
["C0008149","Chlamydia Infections",70,5,"0.8683273843075353","Certain infectious and parasitic diseases"]
["C1692886","Arthritis, Bacterial",70,5,"0.8902164566582074"]
["C3891815","Arthritis, Suppurative",70,5,"0.8902164566582074"]
["C0155616","Secondary hypertension",49,5,"0.8223626374010304","Diseases of the circulatory system"]
["C0264638","Low-renin essential hypertension",49,5,"0.8223626374010304"]
["C0264641","Endocrine hypertension",49,5,"0.8223626374010304"]
["C2751310","Hyperuricemic Nephropathy, Familial Juvenile 2",49,5,"0.8762622190126368"]
["C4511620","Autosomal dominant tubulointerstitial kidney disease",49,5,"0.1442801985459706"]
["C0730278","Severe nonproliferative diabetic retinopathy",43,5,"0.9843506110917806"]
["C1851585","MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA",43,5,"0.9390198181363156"]
["C1866182","Penttinen-Aula syndrome",43,5,"0.9843506110917806"]
["C3554321","BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4",43,5,"0.9843506110917806"]
["C4225270","KOSAKI OVERGROWTH SYNDROME",43,5,"0.9843506110917806"]
["C0751587","CADASIL Syndrome",41,5,"0.407842869205122","Diseases of the circulatory system"]
["C1851710","LATERAL MENINGOCELE SYNDROME",41,5,"0.8502540189870414"]
["C1852242","Nonarteritic anterior ischemic optic neuropathy (NAION)",41,5,"0.8646401604930963"]
["C3809084","MYOFIBROMATOSIS, INFANTILE, 2",41,5,"0.6805108954220694"]
["C4024935","Subcortical dementia",41,5,"0.8646401604930963"]
["C2584611","Hereditary protein S deficiency",35,5,"1.0"]
["C3278211","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT",35,5,"1.0"]
["C3281092","THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE",35,5,"1.0"]
["C3502051","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive",35,5,"1.0"]
["C3502052","Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant",35,5,"1.0"]
["C0014122","Subacute Bacterial Endocarditis",33,5,"0.8012263816728282"]
["C0027013","Myeloid Metaplasia",33,5,"0.6234898378908553"]
["C0242006","Myelofibrosis due to another disorder",33,5,"0.8012263816728282","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3281125","THROMBOCYTHEMIA 3",33,5,"0.8012263816728282"]
["C4022560","Splanchnic vein thrombosis",33,5,"0.6234898378908553"]
["C0034152","Henoch-Schoenlein Purpura",25,5,"0.5458887812549625","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0042386","Vasculitis, Hemorrhagic",25,5,"0.8327755763129872"]
["C0086922","Rheumatoid Purpura",25,5,"0.8327755763129872"]
["C0242461","Purpura, Nonthrombocytopenic",25,5,"0.8327755763129872"]
["C0376362","Purpura Hemorrhagica",25,5,"0.8327755763129872"]
["C0020640","Inherited Factor II deficiency",18,5,"0.7699619278263389"]
["C0162819","Skin Diseases, Vascular",18,5,"0.5705360108686118"]
["C0272317","Hereditary factor II deficiency disease",18,5,"0.8268104579573398"]
["C0338573","Cerebral venous sinus thrombosis",18,5,"0.8268104579573398"]
["C3203356","Factor II deficiency",18,5,"0.8268104579573398","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1412000","Mesenteric vascular insufficiency",16,5,"0.999537573391301","Diseases of the digestive system"]
["C3852984","Acute Mesenteric Arterial Embolus",16,5,"0.99988006055582"]
["C3852985","Occlusive Mesenteric Arterial Ischemia",16,5,"0.99988006055582"]
["C3852986","Nonocclusive Mesenteric Ischemia",16,5,"0.99988006055582"]
["C3852987","Acute Mesenteric Arterial Thrombosis",16,5,"0.99988006055582"]
["C0268123","Muscle AMP deaminase deficiency",2139,4,"0.7930888377878672","Endocrine, nutritional and metabolic diseases"]
["C2752073","Erythrocyte Amp Deaminase Deficiency",2139,4,"0.3622257838172026"]
["C2931781","Adenosine monophosphate deaminase deficiency",2139,4,"0.7860262969000834"]
["C3714933","MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY",2139,4,"0.549760968191284"]
["C0162677","Caliciviridae Infections",2117,4,"1.0"]
["C0206044","Infections, Calicivirus",2117,4,"1.0"]
["C2712971","Enteritis due to Norovirus",2117,4,"1.0"]
["C3534585","Infection caused by Norovirus",2117,4,"1.0"]
["C0477729","Other chronic tubulo-interstitial nephritis",2104,4,"1.0","Diseases of the genitourinary system"]
["C1392616","Nonobstructive chronic pyelonephritis NOS",2104,4,"1.0","Diseases of the genitourinary system"]
["C2931118","Megalocytic interstitial nephritis",2104,4,"1.0"]
["C3553774","INTERSTITIAL NEPHRITIS, KARYOMEGALIC",2104,4,"1.0"]
["C0154207","Other specified disorders of adrenal gland",2093,4,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0271749","Abnormality of cortisol-binding globulin",2093,4,"1.0","Endocrine, nutritional and metabolic diseases"]
["C1852529","Corticosteroid-Binding Globulin Deficiency",2093,4,"1.0"]
["C1969107","Corticosteroid-Binding Globulin, Elevated",2093,4,"1.0"]
["C0220998","Hypothalamic hypothyroidism",2066,4,"1.0"]
["C0394016","Coma, Post-Head Injury",2066,4,"1.0"]
["C0751812","Coma, Post-Traumatic, Prolonged",2066,4,"1.0"]
["C3887992","THYROTROPIN-RELEASING HORMONE DEFICIENCY",2066,4,"1.0"]
["C0014556","Epilepsy, Temporal Lobe",2052,4,"0.6995476836933364"]
["C0014558","Uncinate Epilepsy",2052,4,"0.90625446164869"]
["C0393672","Epilepsy, Benign Psychomotor, Childhood",2052,4,"0.90625446164869"]
["C0393682","Epilepsy, Lateral Temporal",2052,4,"0.9057152939271543"]
["C1848070","Lissencephaly and agenesis of corpus callosum",2031,4,"0.7394439657826549"]
["C1848199","X-Linked Lissencephaly",2031,4,"0.7910665562850091"]
["C1848200","SUBCORTICAL BAND HETEROTOPIA, X-LINKED",2031,4,"0.7394439657826549"]
["C1955870","Classical Lissencephalies and Subcortical Band Heterotopias",2031,4,"0.4366988429563044"]
["C0001957","Alcohol Withdrawal Delirium",2026,4,"0.7287739863779433"]
["C0009088","Cluster Headache",2026,4,"0.10847072985948918","Diseases of the nervous system"]
["C0854739","Advanced sleep phase",2026,4,"0.7471456632218765"]
["C0854740","Delayed sleep phase",2026,4,"0.7471456632218765"]
["C1848862","Miller-McKusick-Malvaux-Syndrome (3M Syndrome)",2013,4,"0.7821904190883422"]
["C1851996","Dwarfism tall vertebrae",2013,4,"0.8086341449502981"]
["C2678312","Three M Syndrome 1",2013,4,"0.7606098491639735"]
["C2752041","Three M Syndrome 2",2013,4,"0.4533953965449259"]
["C0265241","Franceschetti-Klein syndrome",2006,4,"0.5350980980337097"]
["C1855433","Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive",2006,4,"0.43718790385001804"]
["C3150983","TREACHER COLLINS SYNDROME 2",2006,4,"0.18259377074664826"]
["C4225305","LEUKODYSTROPHY, HYPOMYELINATING, 11",2006,4,"0.43718790385001804"]
["C1834659","Muscular dystrophy, limb-girdle, type 1A",2002,4,"1.0"]
["C1836607","MYOTILINOPATHY",2002,4,"1.0"]
["C1866785","Spheroid body myopathy",2002,4,"1.0"]
["C3714934","MYOPATHY, MYOFIBRILLAR, 3",2002,4,"1.0"]
["C0220748","Cartilage-hair hypoplasia",1965,4,"0.49698046404406027"]
["C1834821","METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS",1965,4,"0.49945719386709386"]
["C1846796","Anauxetic dysplasia",1965,4,"0.6758880230519195"]
["C4479357","ANAUXETIC DYSPLASIA 2",1965,4,"0.20955860028436096"]
["C2677506","Cardiomyopathy, Familial Hypertrophic, 11",1955,4,"1.0"]
["C2748552","Atrial Septal Defect 5",1955,4,"1.0"]
["C3150681","CARDIOMYOPATHY, DILATED, 1R",1955,4,"1.0"]
["C3150682","LEFT VENTRICULAR NONCOMPACTION 4",1955,4,"1.0"]
["C1864171","Peroxisome Biogenesis Disorder, Complementation Group 12",1937,4,"1.0"]
["C1864172","Peroxisome Biogenesis Disorder, Complementation Group G",1937,4,"1.0"]
["C3553999","PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)",1937,4,"1.0"]
["C4479254","PEROXISOME BIOGENESIS DISORDER 10B",1937,4,"1.0"]
["C0040820","Trematode Infections",1925,4,"0.18360826675399552","Certain infectious and parasitic diseases"]
["C0151740","Intracranial Hypertension",1925,4,"-0.006788146055624757"]
["C0265325","Turcot syndrome (disorder)",1925,4,"0.2669566842817014"]
["C1838333","COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4",1925,4,"0.21064162915878026"]
["C0020179","Huntington Disease",1905,4,"0.6131133932143453","Diseases of the nervous system"]
["C0393574","Huntington Disease, Late Onset",1905,4,"0.8377637745743804"]
["C0751207","Akinetic-Rigid Variant of Huntington Disease",1905,4,"0.8377637745743804"]
["C0751208","Juvenile Huntington Disease",1905,4,"0.8541471364973284"]
["C3810212","JOUBERT SYNDROME 21",1902,4,"-0.0016848070386000556"]
["C4084822","JOUBERT SYNDROME 23",1902,4,"0.5096217763521104"]
["C4225286","SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY",1902,4,"0.5096217763521104"]
["C4518774","Joubert syndrome with Jeune asphyxiating thoracic dystrophy",1902,4,"0.5516313445750163"]
["C0014544","Epilepsy",1901,4,"0.5069372905650225","Diseases of the nervous system"]
["C0086237","Epilepsy, Cryptogenic",1901,4,"0.5300347625933439"]
["C0543888","Epileptic encephalopathy",1901,4,"-0.028323523327071172"]
["C0751111","Awakening Epilepsy",1901,4,"0.5298326275394245"]
["C1855577","Erythrocyte Lactate Transporter Defect",1872,4,"0.8835242099319878"]
["C1864902","Hyperinsulinemic hypoglycemia, familial, 7",1872,4,"0.8835242099319878"]
["C1864904","Exercise-induced hyperinsulinism",1872,4,"0.6838780716446347"]
["C4015186","MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY",1872,4,"0.8835242099319878"]
["C0029410","Osteoarthritis of hip",1871,4,"0.6120331263438924","Diseases of the musculoskeletal system and connective tissue"]
["C1838280","Epiphyseal dysplasia, multiple, 1",1871,4,"0.8840146461282982"]
["C1851537","Fairbank disease",1871,4,"0.8840146461282982"]
["C1851538","Epiphyseal Dysplasia, Ribbing Type",1871,4,"0.8840146461282982"]
["C0015652","Fascioliasis",1867,4,"0.6277408674588577","Certain infectious and parasitic diseases"]
["C0268576","Hyperleucinemia",1867,4,"0.3830044297417646"]
["C0406756","Keratolytic winter erythema",1867,4,"0.1830131219347182"]
["C1847555","Hyperinsulinemic hypoglycemia, familial, 6",1867,4,"0.3830044297417646"]
["C1834329","RETINITIS PIGMENTOSA 27",1858,4,"0.4806017775377787"]
["C1834330","Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type",1858,4,"0.4806017775377787"]
["C1862382","SVEINSSON CHORIORETINAL ATROPHY",1858,4,"0.2141585166814749"]
["C4024765","Peripapillary chorioretinal atrophy",1858,4,"0.6666053456996756"]
["C1832812","Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation",1841,4,"0.4010445085297324"]
["C3809004","CATARACT 19, MULTIPLE TYPES",1841,4,"0.2355600140911948"]
["C3888097","CATARACT 21, MULTIPLE TYPES",1841,4,"0.4010445085297324"]
["C4021568","Cortical pulverulent cataract",1841,4,"0.6346485928827926"]
["C0152439","Retinoschisis",1820,4,"0.9186218991170633","Diseases of the eye and adnexa"]
["C0271091","Retinoschisis, Juvenile, X-Linked",1820,4,"0.967418984468633"]
["C1137478","Retinoschisis, Degenerative",1820,4,"0.9750308190586006"]
["C3714753","RETINOSCHISIS 1, X-LINKED, JUVENILE",1820,4,"0.9726649304899302"]
["C1833021","DEAFNESS, AUTOSOMAL DOMINANT 6",1817,4,"1.0"]
["C1861826","Cataract, Nuclear Total",1817,4,"1.0"]
["C3280358","Wolfram-Like Syndrome, Autosomal Dominant",1817,4,"1.0"]
["C3805412","CATARACT 41",1817,4,"1.0"]
["C0266006","Pili torti-deafness syndrome",1809,4,"0.9776905499765519"]
["C1852373","Mitochondrial encephalopathy",1809,4,"0.9740969307853259"]
["C1864002","GRACILE SYNDROME (disorder)",1809,4,"0.9878541601856959"]
["C3541471","MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1",1809,4,"0.9878541601856959"]
["C0280962","Bone Marrow Suppression",1796,4,"1.0"]
["C0342801","Thiopurine S methyltranferase deficiency",1796,4,"1.0"]
["C0948168","Bone marrow toxicity",1796,4,"1.0"]
["C2931223","6 alpha mercaptopurine sensitivity",1796,4,"1.0"]
["C0795910","COWCHOCK SYNDROME",1788,4,"0.9741494579900968"]
["C1845095","DEAFNESS, X-LINKED 5 (disorder)",1788,4,"0.9741494579900968"]
["C1846148","Sketetal dysplasia coarse facies mental retardation",1788,4,"0.9741494579900968"]
["C3151753","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6",1788,4,"0.9244309229690109"]
["C0017574","Gingivitis",1748,4,"0.04739206181505732","Diseases of the digestive system"]
["C0037856","Spermatic Cord Torsion",1748,4,"0.6181679809665507","Diseases of the genitourinary system"]
["C1869122","EHLERS-DANLOS SYNDROME, PROGEROID FORM",1748,4,"0.558509982867469"]
["C3809210","EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2",1748,4,"0.43588492187803807"]
["C1843028","Deafness, Autosomal Recessive 37",1746,4,"1.0"]
["C2931767","Deafness, autosomal dominant nonsyndromic sensorineural 22",1746,4,"1.0"]
["C3149009","DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY",1746,4,"1.0"]
["C3501265","Deafness, Sensorineural, with Hypertrophic Cardiomyopathy",1746,4,"1.0"]
["C0271514","Low frequency deafness",1745,4,"0.347282503437948","Diseases of the ear and mastoid process"]
["C0452138","Sensorineural hearing loss, bilateral",1745,4,"-0.20938443561920492","Diseases of the ear and mastoid process"]
["C1852282","DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)",1745,4,"0.4212163354710353"]
["C4225261","SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME",1745,4,"0.44422495207280704"]
["C1291245","Cortisone reductase deficiency",1729,4,"0.6775899406331728"]
["C3551716","CORTISONE REDUCTASE DEFICIENCY 1",1729,4,"0.16236178820229905"]
["C3553382","CORTISONE REDUCTASE DEFICIENCY 2",1729,4,"0.5058751906815325"]
["C4329210","11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency",1729,4,"0.5058751906815325"]
["C0004138","Ataxias, Hereditary",1722,4,"0.12873456153264695","Diseases of the nervous system"]
["C0262404","Cerebellar degeneration",1722,4,"0.7031135972786946"]
["C0740279","Cerebellar atrophy",1722,4,"0.7005062606470862"]
["C4020873","Infratentorial atrophy",1722,4,"0.6978889253026573"]
["C1840061","SMALL PATELLA SYNDROME",1717,4,"1.0"]
["C1868581","Patella aplasia, coxa vara, tarsal synostosis",1717,4,"1.0"]
["C3150607","CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME",1717,4,"1.0"]
["C3150880","CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME",1717,4,"1.0"]
["C0013080","Down Syndrome",1716,4,"0.8621709493293989","Congenital malformations, deformations and chromosomal abnormalities"]
["C0432416","Down Syndrome, Partial Trisomy 21",1716,4,"0.9545457534022488"]
["C0432417","Trisomy 21, Meiotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0751081","Trisomy 21, Mitotic Nondisjunction",1716,4,"0.9545457534022488"]
["C0023522","Leukodystrophy, Metachromatic",1699,4,"0.9127566766631409","Endocrine, nutritional and metabolic diseases"]
["C0751276","Metachromatic leukodystrophy, juvenile type",1699,4,"0.9784567939645856"]
["C0751278","Metachromatic Leukodystrophy, Infant",1699,4,"0.9844986646432038"]
["C0751279","Metachromatic Leukodystrophy, Adult-Type (disorder)",1699,4,"0.9784567939645856"]
["C1863998","Peroxisome Biogenesis Disorder, Complementation Group 9",1681,4,"0.9927955443639027"]
["C1863999","Peroxisome Biogenesis Disorder, Complementation Group D",1681,4,"0.9785130075335419"]
["C3553959","PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)",1681,4,"0.9927955443639027"]
["C3553960","PEROXISOME BIOGENESIS DISORDER 8B",1681,4,"0.9927955443639027"]
["C0268641","Amino acid transport disorder",1675,4,"0.005978071932354226","Endocrine, nutritional and metabolic diseases"]
["C1848030","Hypotonia-Cystinuria Syndrome",1675,4,"0.4663570264724615"]
["C4304537","2p21 microdeletion syndrome",1675,4,"0.45075156801676186"]
["C4479088","MYASTHENIC SYNDROME, CONGENITAL, 22",1675,4,"0.19642155432468647"]
["C0162565","Acute intermittent porphyria",1673,4,"0.9959110622293124"]
["C0268322","Chester-type porphyria",1673,4,"0.998639274498678"]
["C1867969","Porphyria, Acute Intermittent, Nonerythroid Variant",1673,4,"0.998639274498678"]
["C2936779","Hydroxymethylbilane Synthase Deficiency",1673,4,"0.998639274498678"]
["C0001787","Osteoporosis, Age-Related",1664,4,"0.9150399739135031"]
["C0029456","Osteoporosis",1664,4,"0.7417593446375949","Diseases of the musculoskeletal system and connective tissue"]
["C0029459","Osteoporosis, Senile",1664,4,"0.9156957273377931"]
["C0751406","Post-Traumatic Osteoporosis",1664,4,"0.9145753186904838"]
["C1853576","Diamond-Blackfan Anemia With Microtia And Cleft Palate",1662,4,"0.3801539584392106"]
["C2750080","Diamond-Blackfan Anemia 10",1662,4,"0.007349865369069562"]
["C4225411","DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C4225422","DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS",1662,4,"0.012437330100045876"]
["C0394006","Dysequilibrium syndrome",1652,4,"0.5055461877482957"]
["C2750234","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2",1652,4,"0.3787163447079746"]
["C2750509","Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3",1652,4,"0.4784773021791174"]
["C3808977","CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4",1652,4,"0.513711257906384"]
["C3539168","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A",1638,4,"0.9950495777552114"]
["C3553950","PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8",1638,4,"0.9983473780603996"]
["C3553951","PEROXISOME BIOGENESIS DISORDER 7B",1638,4,"0.9983473780603996"]
["C3888385","PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)",1638,4,"0.9983473780603996"]
["C1838440","ICHTHYOSIS EXFOLIATIVA",1634,4,"0.4576746754829982"]
["C1842797","Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like",1634,4,"0.20183545250730253"]
["C1849193","PEELING SKIN SYNDROME",1634,4,"0.1661554430214673"]
["C4310710","PEELING SKIN SYNDROME 5",1634,4,"0.19567187405639985"]
["C0085661","Onycholysis",1633,4,"0.024481775884359718","Diseases of the skin and subcutaneous tissue"]
["C1840299","Hypotrichosis Simplex of Scalp",1633,4,"0.3757649689346729"]
["C3151432","HYPOTRICHOSIS 3",1633,4,"0.5011821529645496"]
["C3554117","ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE",1633,4,"0.5011821529645496"]
["C0038395","Streptococcal Infections",1632,4,"0.869913117644807"]
["C0477316","Other specified coagulation defects",1632,4,"0.9667125729033856","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2752081","ALPHA-2-PLASMIN INHIBITOR DEFICIENCY",1632,4,"0.9667125729033856"]
["C3489734","Anti-plasmin deficiency, congenital",1632,4,"0.9667125729033856"]
["C0235927","Vestibulocerebellar ataxia",1631,4,"0.6508862232903943"]
["C1837007","DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C3149566","DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT",1631,4,"0.44194243967251207"]
["C4015050","DEAFNESS, AUTOSOMAL RECESSIVE 103",1631,4,"0.2208888695984414"]
["C0454455","Mirror movements disorder",1630,4,"0.19435850177653452"]
["C3281089","MIRROR MOVEMENTS 2",1630,4,"0.40235211863948145"]
["C4284093","FANCONI ANEMIA, COMPLEMENTATION GROUP R",1630,4,"0.40235211863948145"]
["C4479640","GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2",1630,4,"0.02990250378864007"]
["C0342776","Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency",1618,4,"0.25523039551124216"]
["C1838979","MITOCHONDRIAL COMPLEX I DEFICIENCY",1618,4,"0.6897253478517794"]
["C1855020","Acute necrotizing encephalopathy",1618,4,"0.583536851355696"]
["C2936907","NADH:Q(1) Oxidoreductase deficiency",1618,4,"0.6809300075488732"]
["C0265268","Adams Oliver syndrome",1612,4,"0.24626646398252577"]
["C3280182","ADAMS-OLIVER SYNDROME 2",1612,4,"0.11945273048497816"]
["C3809092","ADAMS-OLIVER SYNDROME 4",1612,4,"0.14968814822119603"]
["C4225271","ADAMS-OLIVER SYNDROME 6",1612,4,"0.1448909977210813"]
["C1858496","Advanced Sleep-Phase Syndrome, Familial",1607,4,"0.5676626468821583"]
["C3807327","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1",1607,4,"0.20439008138949824"]
["C3808874","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2",1607,4,"0.18234632393097386"]
["C4225169","ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3",1607,4,"0.1608018100036085"]
["C0270612","Leukoencephalopathies",1606,4,"0.1354334035343468"]
["C1847967","OVARIOLEUKODYSTROPHY",1606,4,"0.549177846702693"]
["C1858991","Childhood Ataxia with Central Nervous System Hypomyelinization",1606,4,"0.6702942031271522"]
["C2960129","Vanishing white matter disease",1606,4,"0.5511014316085664"]
["C1858392","NEPHRONOPHTHISIS 3",1582,4,"0.9068365744274985"]
["C2673883","RENAL-HEPATIC-PANCREATIC DYSPLASIA",1582,4,"0.5605354023863534"]
["C2673885","Renal hepatic pancreatic dysplasia Dandy Walker cyst",1582,4,"0.9054387496351294"]
["C3715199","RENAL-HEPATIC-PANCREATIC DYSPLASIA 1",1582,4,"0.8928033303679691"]
["C0175694","Smith-Lemli-Opitz Syndrome",1569,4,"0.9752497124597833","Endocrine, nutritional and metabolic diseases"]
["C0282643","Smith-Lemli-Opitz Syndrome, Type I",1569,4,"0.9920656845658736"]
["C0282644","Smith-Lemli-Opitz Syndrome, Type II",1569,4,"0.9920656845658736"]
["C2713347","7-Dehydrocholesterol Reductase Deficiency",1569,4,"0.9920656845658736"]
["C0011854","Diabetes Mellitus, Insulin-Dependent",1561,4,"0.6536564888319599","Endocrine, nutritional and metabolic diseases"]
["C0205734","Diabetes, Autoimmune",1561,4,"0.8766841153638378"]
["C0342302","Brittle diabetes",1561,4,"0.8759847993193564"]
["C3837958","Diabetes Mellitus, Ketosis-Prone",1561,4,"0.8739155913696601","Endocrine, nutritional and metabolic diseases"]
["C0276096","Mastitis-metritis-agalactia syndrome",1556,4,"0.9271554973832203"]
["C1855114","Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency",1556,4,"0.9656576949735067"]
["C1855115","Methylmalonic Aciduria, mut(0) Type",1556,4,"0.9735289792137636"]
["C1855116","Methylmalonic Aciduria, mut(-) Type",1556,4,"0.9735289792137636"]
["C0271165","Punctate cataract",1542,4,"0.47328110646957205"]
["C1832175","Cataract, Congenital, Cerulean Type, 2",1542,4,"-0.10506018421842693"]
["C1843042","Craniolenticulosutural Dysplasia",1542,4,"0.47328110646957205"]
["C4023734","Sutural cataract",1542,4,"0.0"]
["C0034067","Pulmonary Emphysema",1528,4,"0.8699255454217851","Diseases of the respiratory system"]
["C0221227","Centriacinar Emphysema",1528,4,"0.9580362960754452","Diseases of the respiratory system"]
["C0264393","Panacinar Emphysema",1528,4,"0.9590502617079391","Diseases of the respiratory system"]
["C2350878","Focal Emphysema",1528,4,"0.9580362960754452"]
["C0014799","Erythroderma, Maculopapular",1505,4,"0.9999999999999991"]
["C0030437","Parakeratosis Variegata",1505,4,"0.9999999999999991"]
["C0030491","Parapsoriasis",1505,4,"0.9999999999999991","Diseases of the skin and subcutaneous tissue"]
["C0162442","Parapsoriasis en Plaques",1505,4,"0.9999999999999991","Diseases of the skin and subcutaneous tissue"]
["C0403399","Finnish congenital nephrotic syndrome",1494,4,"0.9683082888683257"]
["C1704320","Glomerulonephritis, Minimal Change",1494,4,"0.977604704876201"]
["C1704321","Nephrotic Syndrome, Minimal Change",1494,4,"0.9636402843774853"]
["C3501848","Nephrosis, congenital",1494,4,"0.9584730659240772","Diseases of the genitourinary system"]
["C1261175","Pontoneocerebellar hypoplasia",1477,4,"0.3620903754809383"]
["C1843504","Pontocerebellar Hypoplasia Type 1",1477,4,"0.3714890603059126"]
["C1969084","Pontocerebellar Hypoplasia Type 6",1477,4,"0.21141239301997736"]
["C3553449","PONTOCEREBELLAR HYPOPLASIA, TYPE 1B",1477,4,"0.1990711850354729"]
["C1832399","Charcot-Marie-Tooth disease, Type 4B1",1475,4,"-0.015475018631010114"]
["C1866636","CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C",1475,4,"0.4310433328408051"]
["C3150596","MONONEUROPATHY OF THE MEDIAN NERVE, MILD",1475,4,"0.4310433328408051"]
["C4082197","Charcot-Marie-Tooth disease type 4",1475,4,"0.554045516085599"]
["C0002736","Amyotrophic Lateral Sclerosis",1464,4,"0.5231612864615848","Diseases of the nervous system"]
["C0393554","Amyotrophic Lateral Sclerosis With Dementia",1464,4,"0.5065393140806872"]
["C0543859","Amyotrophic Lateral Sclerosis, Guam Form",1464,4,"0.48905385947460517"]
["C4020854","Neuro-degenerative disease",1464,4,"0.23052351604307295"]
["C0003851","Arteriosclerosis Obliterans",1452,4,"0.7908589129385872"]
["C0085207","Gestational Diabetes",1452,4,"0.2712847924169374"]
["C2675518","Adiponectin Deficiency",1452,4,"0.7908589129385872"]
["C2675519","Hypoadiponectinemia",1452,4,"0.7903422154892488"]
["C0157743","Vibratory urticaria",1448,4,"1.0","Diseases of the skin and subcutaneous tissue"]
["C0473546","Vibratory angioedema",1448,4,"1.0"]
["C1852145","Familial dermographism",1448,4,"1.0"]
["C1852146","DERMODISTORTIVE URTICARIA",1448,4,"1.0"]
["C3278481","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1",1439,4,"0.12812216106623717"]
["C3502492","Microcephaly with Chorioretinopathy, Autosomal Recessive",1439,4,"0.5275860814868314"]
["C4015388","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2",1439,4,"0.01222619684657216"]
["C4225362","MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3",1439,4,"0.17655159511533985"]
["C3150275","COMPLEMENT COMPONENT 2 DEFICIENCY",1438,4,"0.20347883136266592"]
["C3809653","MACULAR DEGENERATION, AGE-RELATED, 14",1438,4,"0.7300673201333486"]
["C3809654","MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF",1438,4,"0.7300673201333486"]
["C3809950","COMPLEMENT FACTOR B DEFICIENCY",1438,4,"0.13172921248628428"]
["C0795830","CHROMOSOME 9p DELETION SYNDROME",1428,4,"1.0"]
["C1855425","Marles Greenberg Persaud syndrome",1428,4,"1.0"]
["C2750433","Bifid Nose With Or Without Anorectal And Renal Anomalies",1428,4,"1.0"]
["C2751431","Bifid Nose, Autosomal Dominant",1428,4,"1.0"]
["C0472792","Hemolytic anemia due to hexokinase deficiency",1426,4,"1.0"]
["C1854449","Neuropathy, hereditary motor and sensory, Russe type",1426,4,"1.0"]
["C3150343","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY",1426,4,"1.0"]
["C4479526","RETINITIS PIGMENTOSA 79",1426,4,"1.0"]
["C0282526","Hyperpipecolic Acidemia",1422,4,"0.9999999999999996"]
["C0751708","Peroxisomal Dysfunction, General",1422,4,"0.9999999999999996"]
["C0751709","Peroxisomal Dysfunction, Multiple",1422,4,"0.9999999999999996"]
["C0751710","Peroxisomal Dysfunction, Single",1422,4,"0.9999999999999996"]
["C0002886","Anemia, Macrocytic",1397,4,"0.3596136155223349"]
["C1260899","Anemia, Diamond-Blackfan",1397,4,"0.684115553161268","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2931850","Aase Smith syndrome 2",1397,4,"0.7591098322953096"]
["C4021821","Abnormality of the urinary system",1397,4,"0.6598239688072091"]
["C0428791","Aortic valve calcification",1387,4,"0.5893559826909605"]
["C1260873","Aortic valve disorder",1387,4,"0.5755500314962895"]
["C3887892","Aortic Valve Disease 1",1387,4,"0.6838932794436152"]
["C4014970","ADAMS-OLIVER SYNDROME 5",1387,4,"0.5428075822644881"]
["C0001849","AIDS Dementia Complex",1385,4,"0.7435551199320629"]
["C0206019","HIV Encephalopathy",1385,4,"0.8918020708982011"]
["C0243010","Viral Encephalitis",1385,4,"0.8925961896938558","Certain infectious and parasitic diseases"]
["C0936243","HIV-1-Associated Cognitive Motor Complex",1385,4,"0.8925961896938558"]
["C0242423","Ramsay Hunt Paralysis Syndrome",1380,4,"0.847252628185406"]
["C0752097","Autosomal Dominant Juvenile Parkinson Disease",1380,4,"0.847252628185406"]
["C0752098","Autosomal Dominant Parkinsonism",1380,4,"0.6879675453470102"]
["C0752104","Familial Juvenile Parkinsonism",1380,4,"0.847252628185406"]
["C1846862","PARKINSON DISEASE 8 (disorder)",1377,4,"0.5166910906744966"]
["C3489791","Parkinson Disease, Familial, Type 1",1377,4,"0.2767184953457182"]
["C4274355","Autosomal dominant late onset Parkinson disease",1377,4,"0.2586934111035029"]
["C4511452","Sporadic Parkinson disease",1377,4,"0.4095633351858349"]
["C0002880","Autoimmune hemolytic anemia",1376,4,"0.38105596977255063"]
["C0002883","Anemia, Hemolytic, Idiopathic Acquired",1376,4,"0.849513048958656"]
["C0175816","Cold Hemagglutinin Disease",1376,4,"0.849513048958656","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0543663","Idiopathic Autoimmune Hemolytic Anemia",1376,4,"0.849513048958656"]
["C1849236","Severe combined immunodeficiency, atypical",1371,4,"0.9713741793174235"]
["C2931299","ZAP70 deficiency",1371,4,"0.9912778369672891"]
["C2931320","T cell immunodeficiency primary",1371,4,"0.9912778369672891"]
["C4310768","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2",1371,4,"0.9912778369672891"]
["C0005697","Neurogenic Urinary Bladder",1363,4,"0.5581547977365222"]
["C0149622","Neurogenic Urinary Bladder, Atonic",1363,4,"0.8438184237703538"]
["C0750953","Urinary Bladder Neurogenesis",1363,4,"0.8438184237703538"]
["C0750955","Neurogenic Urinary Bladder, Spastic",1363,4,"0.8438184237703538"]
["C0268534","Prolinuria",1356,4,"0.36699454495783834"]
["C0268654","Iminoglycinuria",1356,4,"0.6550185765694375"]
["C0341706","Glycinuria",1356,4,"0.24134093454127567"]
["C0543541","HYPERGLYCINURIA (disorder)",1356,4,"0.7441020200215402"]
["C0268579","Propionic acidemia",1354,4,"0.8492632541412186","Endocrine, nutritional and metabolic diseases"]
["C0311298","Propionic acidemia, type II",1354,4,"0.8538448295626059"]
["C1306587","Acute encephalopathy",1354,4,"0.5554581171325069"]
["C2717876","Propionicaciduria",1354,4,"0.8538448295626059"]
["C0431693","Renal cysts and diabetes syndrome",1350,4,"0.7516846297756881"]
["C1567426","Unilateral Multicystic Dysplastic Kidney",1350,4,"0.8452451873675859"]
["C1567427","Bilateral Multicystic Dysplastic Kidneys",1350,4,"0.8452451873675859"]
["C3281138","CHROMOSOME 17q12 DELETION SYNDROME",1350,4,"0.6331844510250144"]
["C1832244","CARDIOMYOPATHY, DILATED, 1C (disorder)",1348,4,"1.0"]
["C1836155","Myopathy, Myofibrillar, Zasp-Related",1348,4,"1.0"]
["C3152137","LEFT VENTRICULAR NONCOMPACTION 3",1348,4,"1.0"]
["C4225414","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24",1348,4,"1.0"]
["C0392470","Anomalous atrioventricular excitation",1345,4,"1.0","Diseases of the circulatory system"]
["C1864730","Polyposis Syndrome, Hereditary Mixed, 2",1345,4,"1.0"]
["C2677102","Chromosome 10q23 Deletion Syndrome",1345,4,"1.0"]
["C4023006","Juvenile colonic polyposis",1345,4,"1.0"]
["C0019147","Hepatic Coma",1336,4,"0.9354671080152622","Diseases of the digestive system"]
["C0019151","Hepatic Encephalopathy",1336,4,"0.8199469950257158","Diseases of the digestive system"]
["C0751197","Fulminant Hepatic Failure with Cerebral Edema",1336,4,"0.9354671080152622"]
["C0751198","Hepatic Stupor",1336,4,"0.9354671080152622"]
["C0002878","Anemia, Hemolytic",1319,4,"0.7722862154642667","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0002879","Anemia, Hemolytic, Acquired",1319,4,"0.9263136988199357","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0002889","Anemia, Microangiopathic",1319,4,"0.9247417218838393"]
["C0221021","Microangiopathic hemolytic anemia",1319,4,"0.9206458597140103","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0752166","Bardet-Biedl Syndrome",1317,4,"0.36217869186907337","Congenital malformations, deformations and chromosomal abnormalities"]
["C0869083","Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM",1317,4,"0.20269245452936568","Congenital malformations, deformations and chromosomal abnormalities"]
["C2936862","Bardet-Biedl syndrome 1 (disorder)",1317,4,"0.16707702457124748"]
["C3714581","Multicystic Dysplastic Kidney",1317,4,"-0.07937274706744646","Congenital malformations, deformations and chromosomal abnormalities"]
["C0740896","Hypokalemic hypochloremic metabolic alkalosis",1304,4,"0.2844724550683174"]
["C2751312","BARTTER SYNDROME, TYPE 4B",1304,4,"0.31653165292907026"]
["C3671887","Hypernatriuria",1304,4,"0.26033317660121696"]
["C4310805","BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS",1304,4,"0.5707009785019546"]
["C0014549","Tonic-Clonic Epilepsy",1299,4,"0.9694464538022375"]
["C0751117","Cryptogenic Tonic-Clonic Epilepsy",1299,4,"0.9897204555042906"]
["C0751118","Epilepsy, Tonic-Clonic, Familial",1299,4,"0.9897204555042906"]
["C0751119","Epilepsy, Tonic-Clonic, Symptomatic",1299,4,"0.9897204555042906"]
["C0432267","Tricho-thiodystrophy disorder",1294,4,"1.0"]
["C1313961","Trichorrhexis nodosa syndrome",1294,4,"1.0"]
["C3495483","Amish Brittle Hair Brain Syndrome",1294,4,"1.0"]
["C4083251","Trichothiodystrophy, Nonphotosensitive 1",1294,4,"1.0"]
["C0009207","Cockayne Syndrome",1290,4,"0.4352848482479391","Congenital malformations, deformations and chromosomal abnormalities"]
["C0751037","Cockayne Syndrome, Type III",1290,4,"0.46770761448377346"]
["C0751038","Cockayne Syndrome, Type II",1290,4,"0.431800482543334"]
["C0751039","Cockayne Syndrome, Type I",1290,4,"0.4470211876920407"]
["C0406735","Hypoplastic enamel-onycholysis-hypohidrosis syndrome",1279,4,"0.9660781008093098"]
["C1837210","OROFACIAL CLEFT 5",1279,4,"0.7913740904572161"]
["C1970117","Tooth Agenesis, Selective, With Orofacial Cleft",1279,4,"0.9660781008093098"]
["C1970118","Hypodontia Oligodontia with Orofacial Cleft",1279,4,"0.9660781008093098"]
["C0795841","Jacobsen Distal 11q Deletion Syndrome",1276,4,"0.9878108482912601"]
["C1861178","Thrombocytopenia Paris-Trousseau type",1276,4,"0.9959254730538218"]
["C1956093","Paris-Trousseau Thrombocytopenia",1276,4,"0.9959254730538218"]
["C4479515","BLEEDING DISORDER, PLATELET-TYPE, 21",1276,4,"0.9959254730538218"]
["C0030486","Paraplegia",1273,4,"0.25264087758433296","Diseases of the nervous system"]
["C1846564","SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE",1273,4,"0.7604457615061272"]
["C1968845","Primary Lateral Sclerosis, Adult, 1",1273,4,"0.7604457615061272"]
["C3711370","Spastic Paraplegia Type 7",1273,4,"0.7604457615061272"]
["C0020459","Hyperinsulinism",1268,4,"0.5186276273150053","Endocrine, nutritional and metabolic diseases"]
["C1257963","Endogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257964","Exogenous Hyperinsulinism",1268,4,"0.8545702054638838"]
["C1257965","Compensatory Hyperinsulinemia",1268,4,"0.8549451851350132"]
["C0406369","Lichen planus pemphigoides",1265,4,"0.9523254888813999"]
["C0406650","Linear IgA Bullous Dermatosis",1265,4,"0.8620032533020708"]
["C1852551","Epithelial Recurrent Erosion Dystrophy",1265,4,"0.9523254888813999"]
["C4304724","Late-onset junctional epidermolysis bullosa",1265,4,"0.9523254888813999"]
["C0342376","Panhypopituitarism - X-linked",1259,4,"0.9760265070540525"]
["C1848068","Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency",1259,4,"0.9760265070540525"]
["C1855900","HYPERTRICHOSIS, CONGENITAL GENERALIZED",1259,4,"0.9206198518775859"]
["C2678223","Mental Retardation, X-Linked, With Panhypopituitarism",1259,4,"0.9760265070540525"]
["C1847582","Lipodystrophy with Congenital Cataracts and Neurodegeneration",1258,4,"1.0"]
["C2675861","Lipodystrophy, Congenital Generalized, Type 3",1258,4,"1.0"]
["C3807567","PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME",1258,4,"1.0"]
["C3809192","PULMONARY HYPERTENSION, PRIMARY, 3",1258,4,"1.0"]
["C1865384","Amyotrophy, monomelic",1233,4,"0.5612748483565613"]
["C2745997","OROFACIODIGITAL SYNDROME VI",1233,4,"0.22817648831959442"]
["C3553264","JOUBERT SYNDROME 17",1233,4,"0.545036801201581"]
["C4021581","Distal upper limb amyotrophy",1233,4,"0.017551104874552827"]
["C0009714","Hepatic Fibrosis, Congenital",1230,4,"0.14194869715222255"]
["C0085548","Autosomal Recessive Polycystic Kidney Disease",1230,4,"0.1261045979147495","Congenital malformations, deformations and chromosomal abnormalities"]
["C0162510","Caroli Disease",1230,4,"0.47044543409408385"]
["C1833541","Caroli disease isolated",1230,4,"0.5373241586590898"]
["C1857779","SENIOR-LOKEN SYNDROME 6",1224,4,"0.9275004815507638"]
["C1857780","JOUBERT SYNDROME 5",1224,4,"0.9772479626927189"]
["C1857821","LEBER CONGENITAL AMAUROSIS 10 (disorder)",1224,4,"0.9772479626927189"]
["C1970161","MECKEL SYNDROME, TYPE 4",1224,4,"0.9772479626927189"]
["C0311245","Congenital cystic kidney disease",1222,4,"0.2288857642215149"]
["C1857662","COACH syndrome",1222,4,"0.3743529348949383"]
["C4020790","Medullary sponge kidney disease",1222,4,"0.5796980971608529"]
["C4024644","Multiple small medullary renal cysts",1222,4,"0.5796980971608529"]
["C1836050","Filaminopathy, autosomal dominant",1218,4,"0.9906042295542631"]
["C3279722","MYOPATHY, DISTAL, 4",1218,4,"0.9968577079381988"]
["C4310748","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5",1218,4,"0.9968577079381988"]
["C4310749","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26",1218,4,"0.9968577079381988"]
["C1862389","ATRIAL SEPTAL DEFECT 1",1210,4,"0.8284271247461897"]
["C1862391","ASD I",1210,4,"0.9349126180414541"]
["C1862392","Atrial Septal Defect, Secundum Type",1210,4,"0.9349126180414541"]
["C1862393","ASD II",1210,4,"0.9349126180414541"]
["C0027126","Myotonic Dystrophy",1208,4,"0.7231286898546739","Diseases of the nervous system"]
["C0410226","Congenital Myotonic Dystrophy",1208,4,"0.5609582132392523"]
["C2931689","Dystrophia myotonica 2",1208,4,"0.6018474589767683","Diseases of the nervous system"]
["C3250443","MYOTONIC DYSTROPHY 1",1208,4,"0.49368672418271026"]
["C0596131","audiogenic seizure",1193,4,"0.7869541890541861"]
["C1401084","Ovarian Insufficiency",1193,4,"0.5846286681209663"]
["C1839780","FRAGILE X TREMOR/ATAXIA SYNDROME",1193,4,"0.7835856967062563"]
["C3275521","CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME",1193,4,"0.7869541890541861"]
["C0040963","Tricuspid Valve Stenosis",1192,4,"0.6368290335248984"]
["C1837657","Spondyloepiphyseal dysplasia, Omani type",1192,4,"0.4939833464638853"]
["C2931649","Larsen syndrome, recessive type",1192,4,"0.4939833464638853"]
["C3278147","GELEOPHYSIC DYSPLASIA 1",1192,4,"0.03254268110472885"]
["C0015708","Fazio-Londe Syndrome",1187,4,"0.8789814120223987","Diseases of the nervous system"]
["C0030442","Progressive bulbar palsy",1187,4,"0.8789814120223987","Diseases of the nervous system"]
["C0393540","Childhood Progressive Bulbar Palsy",1187,4,"0.8789814120223987"]
["C0796274","Brown-Vialetto-Van Laere syndrome",1187,4,"0.6242815659133077"]
["C0018055","Gonadal Dysgenesis, Mixed",1178,4,"0.06163205738058863"]
["C0432470","46, XY female",1178,4,"0.6651249785936851","Congenital malformations, deformations and chromosomal abnormalities"]
["C2748896","46,Xy Gonadal Dysgenesis, Complete, Sry-Related",1178,4,"0.7442203067209071"]
["C2748897","46,Xy True Hermaphroditism, Sry-Related",1178,4,"0.7442203067209071"]
["C0026705","Mucopolysaccharidosis II",1176,4,"0.9995007884476012","Endocrine, nutritional and metabolic diseases"]
["C0342841","Hunter\\'s syndrome, severe form",1176,4,"0.9998335879055861"]
["C0342842","Hunter\\'s syndrome, mild form",1176,4,"0.9998335879055861"]
["C2718304","Sulfoiduronate Sulfatase Deficiency",1176,4,"0.9998335879055861"]
["C1860752","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7",1160,4,"0.9892816288917842"]
["C1861861","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)",1160,4,"0.9683061203126658"]
["C2678474","CARDIOMYOPATHY, DILATED, 2A (disorder)",1160,4,"0.9892816288917842"]
["C2750091","Cardiomyopathy, Dilated, 1FF",1160,4,"0.9892816288917842"]
["C0175778","Larsen syndrome",1154,4,"0.9721304765086209"]
["C0432201","Boomerang dysplasia",1154,4,"0.9721304765086209"]
["C1848934","SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME",1154,4,"0.9151439698592431"]
["C2931648","Larsen syndrome, dominant type",1154,4,"0.9721304765086209"]
["C0034362","Q Fever",1152,4,"0.9999999999999998","Certain infectious and parasitic diseases"]
["C0519066","Acute Q fever",1152,4,"0.9999999999999998"]
["C1443892","Chronic Q Fever",1152,4,"0.9999999999999998"]
["C2973787","Coxiella burnetii Infection",1152,4,"0.9999999999999998"]
["C0266941","Derangement of temporomandibular joint",1150,4,"0.9090273257279468"]
["C1263858","Muscular dystrophy congenital, merosin negative",1150,4,"0.9090273257279468"]
["C1842898","Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency",1150,4,"0.9090273257279468"]
["C2827469","Coronary Microvascular Disease",1150,4,"0.71346407156482"]
["C0342782","Depletion of mitochondrial DNA",1142,4,"0.5537493321779642"]
["C3149750","MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)",1142,4,"0.897339513924786"]
["C3501891","Mitochondrial DNA Depletion Syndrome, Myopathic Form",1142,4,"0.897339513924786"]
["C4310734","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3",1142,4,"0.897339513924786"]
["C0003756","Arenaviridae Infections",1141,4,"1.0"]
["C0205671","Infections, Arenavirus",1141,4,"1.0"]
["C3714509","Nutrition Disorders",1141,4,"1.0"]
["C4225219","IMMUNODEFICIENCY 46",1141,4,"1.0"]
["C0007193","Cardiomyopathy, Dilated",1138,4,"0.5573060417302593","Diseases of the circulatory system"]
["C0264886","Conduction disorder of the heart",1138,4,"0.3898556667639416","Diseases of the circulatory system"]
["C0340427","Familial dilated cardiomyopathy",1138,4,"0.36060005547372864"]
["C1449563","Cardiomyopathy, Familial Idiopathic",1138,4,"0.0031474371698796706"]
["C0030328","Panniculitis, Nodular Nonsuppurative",1137,4,"0.9099145068384988","Diseases of the musculoskeletal system and connective tissue"]
["C0039841","Thiamine Deficiency",1137,4,"0.7563350547642427","Endocrine, nutritional and metabolic diseases"]
["C0221757","alpha 1-Antitrypsin Deficiency",1137,4,"0.9082163247087114","Endocrine, nutritional and metabolic diseases"]
["C3501835","alpha-1-Antitrypsin Deficiency, Autosomal Recessive",1137,4,"0.9067327320060637"]
["C1845292","FANCONI ANEMIA, COMPLEMENTATION GROUP B",1131,4,"0.8366435582137525"]
["C1848599","VACTERL Association With Hydrocephalus",1131,4,"0.6668137038864544"]
["C1848600","Vater Association With Hydrocephalus",1131,4,"0.8366435582137525"]
["C2749240","Vater Association With Macrocephaly And Ventriculomegaly",1131,4,"0.868649653382645"]
["C0022578","Keratoconus",1121,4,"0.1752792905172218","Diseases of the eye and adnexa"]
["C0028077","Night Blindness",1121,4,"0.06556981725310781","Diseases of the eye and adnexa"]
["C0035334","Retinitis Pigmentosa",1121,4,"0.3825011683105577","Diseases of the eye and adnexa"]
["C0271215","Blindness, Legal",1121,4,"0.10489975599125101"]
["C0339527","Leber Congenital Amaurosis",1120,4,"0.614613666104317"]
["C0375206","Hemiplegia/hemiparesis",1120,4,"0.28613392330803156","Diseases of the nervous system"]
["C1301509","Severe visual impairment",1120,4,"0.5081365186465451"]
["C3540662","Congenital Amaurosis of Retinal Origin",1120,4,"0.35544780678837085"]
["C0342467","Late onset congenital adrenal hyperplasia",1119,4,"0.8788701999033757"]
["C0852654","21-hydroxylase deficiency",1119,4,"0.6383699403167985","Endocrine, nutritional and metabolic diseases"]
["C1859995","Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency",1119,4,"0.8788701999033757"]
["C4273964","Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",1119,4,"0.8788701999033757"]
["C0028879","Odontogenic Cysts",1114,4,"0.9795969719383795"]
["C0341038","Jaw Keratocyst",1114,4,"0.9401514547001606"]
["C1835820","HOLOPROSENCEPHALY 7",1114,4,"0.9795969719383795"]
["C3711390","9q22.3 Microdeletion",1114,4,"0.9795969719383795"]
["C0155285","Orbital cyst",1113,4,"0.318931892986822","Diseases of the eye and adnexa"]
["C1397139","Calcification of falx cerebri",1113,4,"0.2880543440788892"]
["C1862304","Hamartomatous polyp of stomach",1113,4,"0.3386960476076822"]
["C4540342","JOUBERT SYNDROME 32",1113,4,"0.20405210589652178"]
["C1838647","RETINITIS PIGMENTOSA 12 (disorder)",1093,4,"1.0"]
["C1868310","Pigmented Paravenous Chorioretinal Atrophy",1093,4,"1.0"]
["C3151202","LEBER CONGENITAL AMAUROSIS 8",1093,4,"1.0"]
["C4072868","Paravenous chorioretinal atrophy",1093,4,"1.0"]
["C0152113","Rheumatic Chorea",1086,4,"0.9999999999999991","Diseases of the circulatory system"]
["C0238056","Chorea, Senile",1086,4,"0.9999999999999991"]
["C0699728","Chronic progressive chorea",1086,4,"0.9999999999999991"]
["C0699731","Hereditary Chorea",1086,4,"0.9999999999999991"]
["C0393584","Benign Hereditary Chorea",1085,4,"0.13057876629906617"]
["C1859098","Chorea, Benign Familial",1085,4,"0.5183752558699096"]
["C1970269","Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress",1085,4,"0.5300655769224515"]
["C1970270","Choreoathetosis And Congenital Hypothyroidism",1085,4,"0.5300655769224515"]
["C1719788","Episodic ataxia type 1",1083,4,"0.9937712035281208"]
["C1834559","Continuous Muscle Fiber Activity, Hereditary",1083,4,"0.99792108950975"]
["C2674766","Myokymia 1",1083,4,"0.99792108950975"]
["C4305155","Isolated autosomal dominant hypomagnesemia Glaudemans type",1083,4,"0.99792108950975"]
["C3149378","IMMUNODEFICIENCY, COMMON VARIABLE, 1",1071,4,"0.3055805201478008"]
["C3277428","Severe viral infections",1071,4,"0.4669578382140786"]
["C3809991","IMMUNODEFICIENCY, COMMON VARIABLE, 10",1071,4,"0.3055805201478008"]
["C4014617","IMMUNODEFICIENCY 24",1071,4,"0.17048051471309186"]
["C0751882","Myasthenic Syndromes, Congenital",1070,4,"0.8067212812807858"]
["C0751883","Congenital Myasthenic Syndromes, Postsynaptic",1070,4,"0.7916665167886413"]
["C0751884","Congenital Myasthenic Syndromes, Presynaptic",1070,4,"0.7708690093920988"]
["C0751885","Myasthenic Syndromes, Congenital, Slow Channel",1070,4,"0.837522037499178"]
["C1864623","DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)",1061,4,"0.7740308333291879"]
["C4225365","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13",1061,4,"0.9551660346730506"]
["C4274081","Autosomal dominant hyperinsulinism due to Kir6.2 deficiency",1061,4,"0.9551660346730506"]
["C4303593","DEND syndrome",1061,4,"0.9551660346730506"]
["C0027773","Nesidioblastosis",1060,4,"0.8039118005413906","Endocrine, nutritional and metabolic diseases"]
["C2931832","Hyperinsulinemic hypoglycemia, familial, 1",1060,4,"0.6511213815377133"]
["C2931833","Hyperinsulinemic hypoglycemia, familial, 2",1060,4,"0.5028937945044223"]
["C3888018","Congenital Hyperinsulinism",1060,4,"0.807907299537654"]
["C0520739","Hereditary pyropoikilocytosis",1049,4,"0.6205961614191472"]
["C1851741","ELLIPTOCYTOSIS 2 (disorder)",1049,4,"0.9101178765476561"]
["C2678338","SPHEROCYTOSIS, TYPE 3 (disorder)",1049,4,"0.9101178765476561"]
["C4025285","Microspherocytosis",1049,4,"0.9101178765476561"]
["C0338430","Limbic Encephalitis",1037,4,"0.7776603817177512","Diseases of the nervous system"]
["C0391957","idiopathic epilepsy",1037,4,"0.11579113947359684"]
["C1838062","EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT",1037,4,"0.5032359210600972"]
["C1842564","Temporal epilepsy, familial",1037,4,"0.7776603817177512"]
["C1846722","Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies",1022,4,"0.946143372501969"]
["C3277723","JOUBERT SYNDROME 12",1022,4,"0.946143372501969"]
["C3279899","Hydrolethalus Syndrome 2",1022,4,"0.946143372501969"]
["C3280899","JOUBERT SYNDROME 12/15, DIGENIC",1022,4,"0.8572341480286065"]
["C1275078","Acrocephalopolysyndactyly type 2",1020,4,"0.5749292255748233"]
["C1866339","Preaxial Hallucal Polydactyly",1020,4,"-0.08921202085428967"]
["C3554247","CARPENTER SYNDROME 2",1020,4,"0.4232457986339482"]
["C4020889","Cornela disease",1020,4,"0.07721152036680853"]
["C0431406","Asymmetric crying face association",1013,4,"0.772551481316319"]
["C2936346","22q11 Deletion Syndrome",1013,4,"0.7199978580301384"]
["C3266101","22q11 partial monosomy syndrome",1013,4,"0.8701801956520172"]
["C4024912","Occipital myelomeningocele",1013,4,"0.8693693476693937"]
["C0032001","Pituitary Apoplexy",1003,4,"0.9052517448587774"]
["C0035333","Retinitis",1003,4,"0.7450760583596704","Diseases of the eye and adnexa"]
["C0154874","Neuroretinitis",1003,4,"0.9052517448587774","Diseases of the eye and adnexa"]
["C3203733","Precordial Catch Syndrome",1003,4,"0.9052517448587774"]
["C0343239","Benign congenital hypotonia",994,4,"0.4019925104659892"]
["C1655035","congenital muscle disorder",994,4,"0.4019925104659892"]
["C1846169","Myotubular Myopathy with Abnormal Genital Development",994,4,"0.6350157990683348"]
["C2677879","Hypospadias 2, X-Linked",994,4,"0.23113941006447167"]
["C0795878","Monosomy 22",986,4,"0.9157211381818925"]
["C2750405","Malignant Rhabdoid Tumor, Somatic",986,4,"0.9157211381818925"]
["C2985524","Rhabdoid Tumor Predisposition Syndrome",986,4,"0.9157211381818925"]
["C3553248","MENTAL RETARDATION, AUTOSOMAL DOMINANT 15",986,4,"0.4769118408704372"]
["C1969562","Mental Retardation, Autosomal Dominant 1",983,4,"0.8177601902532841"]
["C3277090","CHROMOSOME 2q23.1 DELETION SYNDROME",983,4,"0.7779578635877981"]
["C3553247","MENTAL RETARDATION, AUTOSOMAL DOMINANT 14",983,4,"-0.06539317343845784"]
["C4304532","2q23.1 microdeletion syndrome",983,4,"0.710787630067661"]
["C1854023","Spinal muscular atrophy, Jerash type",965,4,"0.3467724488146202"]
["C3280587","AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE",965,4,"0.1331586705851838"]
["C3711384","Distal Hereditary Motor Neuropathy, Type II",965,4,"-0.1818813881409131"]
["C3888271","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID",965,4,"0.2966258170086335"]
["C1833213","Hyperferritinemia, hereditary, with congenital cataracts",961,4,"1.0"]
["C1853578","Neuroferritinopathy",961,4,"1.0"]
["C3810090","L-FERRITIN DEFICIENCY",961,4,"1.0"]
["C4024952","Cavitation of the basal ganglia",961,4,"1.0"]
["C0234517","Anarthria speech disorder",960,4,"0.08043819918468745"]
["C1853396","Primary lateral sclerosis juvenile",960,4,"0.753905345597191"]
["C1859807","AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)",960,4,"0.8209290580127173"]
["C2931441","Hereditary spastic paralysis, infantile onset ascending",960,4,"0.821824421655318"]
["C0008384","Cholesterol Ester Storage Disease",952,4,"0.9985191034107612"]
["C0043208","Wolman Disease",952,4,"0.9960593127221445","Endocrine, nutritional and metabolic diseases"]
["C0271750","Adrenal calcification",952,4,"0.9985191074284671"]
["C2936797","Acid cholesteryl ester hydrolase deficiency, type 2",952,4,"0.9985191074284671"]
["C0338902","Writer\\'s cramp neurosis",949,4,"0.8441872370991478"]
["C1851945","DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT",949,4,"0.9503061918558788"]
["C1969807","Dystonia, Focal, Task-Specific",949,4,"0.9509677233862748"]
["C3888090","Early onset torsion dystonia",949,4,"0.9288907100489566"]
["C1302995","Congenital Fibrosis of the Extraocular Muscles",945,4,"0.30101428099664596"]
["C1851102","Fibrosis Of Extraocular Muscles, Congenital, 1",945,4,"0.42589779956938045"]
["C1865915","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2",945,4,"-0.03851296999547444"]
["C2751105","FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)",945,4,"0.4127186388383141"]
["C0398762","Properdin deficiency disease",942,4,"1.0"]
["C1839454","PROPERDIN DEFICIENCY, X-LINKED",942,4,"1.0"]
["C1839455","Properdin Deficiency, Type II",942,4,"1.0"]
["C1839456","Properdin Deficiency, Type III",942,4,"1.0"]
["C0026363","Mohr Syndrome",938,4,"0.6479954291803536"]
["C0029294","Orofaciodigital Syndromes",938,4,"0.261830846169915","Congenital malformations, deformations and chromosomal abnormalities"]
["C2931889","Oral-facial-digital syndrome, type 2",938,4,"0.08385527621285029"]
["C4014780","OROFACIODIGITAL SYNDROME XIV",938,4,"0.5251645199190038"]
["C0008313","Cholangitis, Sclerosing",923,4,"0.22838409719731467","Diseases of the digestive system"]
["C0038013","Ankylosing spondylitis",923,4,"-0.12575006794417226","Diseases of the musculoskeletal system and connective tissue"]
["C0566602","Primary sclerosing cholangitis",923,4,"-0.12001639727158234","Diseases of the digestive system"]
["C4022867","Spider hemangioma",923,4,"-0.31407259472744936"]
["C0175701","Aarskog syndrome",918,4,"0.7989257328478363","Congenital malformations, deformations and chromosomal abnormalities"]
["C1844569","Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder",918,4,"0.9575445344660868"]
["C1856871","Autosomal recessive facio-digito-genital syndrome",918,4,"0.9575445344660868"]
["C3275558","MENTAL RETARDATION, X-LINKED, SYNDROMIC 16",918,4,"0.9575445344660868"]
["C1300267","Brachydactyly syndrome type B",913,4,"0.9376849361290489"]
["C1849334","Robinow syndrome, autosomal recessive",913,4,"0.9377360024927834"]
["C3151609","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS",913,4,"0.9621021108222909"]
["C3151610","ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY",913,4,"0.9621021108222909"]
["C3714995","CARDIOMYOPATHY, DILATED, 1KK",908,4,"1.0"]
["C3714998","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22",908,4,"1.0"]
["C3808963","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4",908,4,"1.0"]
["C4479186","NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE",908,4,"1.0"]
["C0220662","ARTHROGRYPOSIS, DISTAL, TYPE 1",903,4,"0.4782600786121121"]
["C0265213","Distal arthrogryposis syndrome",903,4,"0.5499843490737487"]
["C1834523","ARTHROGRYPOSIS, DISTAL, TYPE 2B",903,4,"0.6709235484073736"]
["C1852085","Digitotalar Dysmorphism",903,4,"0.7005051894227141"]
["C0079295","Epidermolysis Bullosa Herpetiformis Dowling-Meara",894,4,"0.7538797606067297"]
["C0079298","Epidermolysis Bullosa Simplex",894,4,"0.707154624715467","Congenital malformations, deformations and chromosomal abnormalities"]
["C0080333","Weber-Cockayne Syndrome",894,4,"0.7318028169411396"]
["C1832926","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)",894,4,"0.5214622355113551"]
["C0031190","Persistent Fetal Circulation Syndrome",892,4,"0.37192791147074433","Certain conditions originating in the perinatal period"]
["C1302790","Congenital malformation syndrome",892,4,"0.48092873988055274"]
["C2675862","Pyloric Stenosis, Infantile Hypertrophic, 5",892,4,"0.7699820102594364"]
["C2931117","Fetal megacystis",892,4,"0.7699820102594364"]
["C1563696","DNA Repair-Deficiency Disorders",885,4,"0.9621712857806799"]
["C1563697","Chromosome Instability Syndromes",885,4,"0.9621712857806799"]
["C3150667","MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY",885,4,"0.8679791396861877"]
["C4225397","ATAXIA-OCULOMOTOR APRAXIA 4",885,4,"0.9621712857806799"]
["C0270724","Infantile Neuroaxonal Dystrophy",874,4,"0.8493486536305945"]
["C1857747","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)",874,4,"0.9665095510784714"]
["C2750220","Karak Syndrome",874,4,"0.9665095510784714"]
["C2751842","PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE",874,4,"0.9665095510784714"]
["C1832845","USHER SYNDROME, TYPE ID",857,4,"0.8977181164936108"]
["C2931208","Usher syndrome, type 1D",857,4,"0.9490953783093523"]
["C3152102","USH1D/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C3275872","USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC",857,4,"0.9565205458420806"]
["C0338473","Neuroaxonal Dystrophies",850,4,"0.9763121476503032"]
["C0751716","Adult Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751717","Juvenile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C0751718","Late Infantile Neuroaxonal Dystrophy",850,4,"0.9925714371010504"]
["C1837355","Leukodystrophy, Hypomyelinating, 2",828,4,"0.9646717087668447"]
["C2750784","SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)",828,4,"0.9689434860194519"]
["C3150732","LYMPHEDEMA, HEREDITARY, IC",828,4,"0.9689434860194519"]
["C4274084","Pelizaeus Merzbacher like disease",828,4,"0.8988264701320258"]
["C0017205","Gaucher Disease",826,4,"0.7812757061487929","Endocrine, nutritional and metabolic diseases"]
["C0268250","Gaucher Disease, Type 2 (disorder)",826,4,"0.7159302659372846"]
["C0268251","Gaucher Disease, Type 3 (disorder)",826,4,"0.7159302659372846"]
["C1961835","Gaucher Disease, Type 1",826,4,"0.6642145557796146"]
["C0002066","Alkaptonuria",815,4,"0.9996849832257481","Endocrine, nutritional and metabolic diseases"]
["C0028817","Ochronosis",815,4,"0.9998949928170674","Endocrine, nutritional and metabolic diseases"]
["C0410607","Intervertebral disk calcification",815,4,"0.9998949928170674"]
["C2931645","Ochronosis, hereditary",815,4,"0.9998949928170674"]
["C0751602","Hereditary Autosomal Dominant Spastic Paraplegia",810,4,"0.755851744518405"]
["C0751603","Autosomal Recessive Hereditary Spastic Paraplegia",810,4,"0.8621602313639043"]
["C0751604","Hereditary X-Linked Recessive Spastic Paraplegia",810,4,"0.8747992203409081"]
["C0751605","X-Linked, Spastic Paraplegia, Hereditary",810,4,"0.8915916119142342"]
["C0007361","Cat-Scratch Disease",809,4,"0.6521313837379219","Certain infectious and parasitic diseases"]
["C0026916","Mycobacterium avium-intracellulare Infection",809,4,"0.874268558118369"]
["C1854467","Spastic paraplegia 13, autosomal dominant",809,4,"0.874268558118369"]
["C2677109","Leukodystrophy, Hypomyelinating, 4",809,4,"0.874268558118369"]
["C0152205","Alternating esotropia",778,4,"0.6668195784166747","Diseases of the eye and adnexa"]
["C0220693","Microcephaly autosomal dominant",778,4,"0.508766653282791"]
["C1970021","Congenital Disorder Of Glycosylation, Type IIH",778,4,"0.11206306253719091"]
["C2751829","Ventricular Fibrillation, Paroxysmal Familial, 2",778,4,"0.508766653282791"]
["C0154141","Thyrotoxicosis with toxic single thyroid nodule",777,4,"0.7790903844121302","Endocrine, nutritional and metabolic diseases"]
["C0154143","Toxic multinodular goiter",777,4,"0.761212308025839","Endocrine, nutritional and metabolic diseases"]
["C0268446","Thyrotoxic periodic paralysis",777,4,"0.7634430126158891"]
["C4021553","Periodic hypokalemic paresis",777,4,"0.16836888503759684"]
["C0340486","Induced ventricular tachycardia",763,4,"0.9689497285955772"]
["C1832931","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2",763,4,"0.9689497285955772"]
["C2930902","Bidirectional tachycardia",763,4,"0.9689497285955772"]
["C4053736","Catecholaminergic Polymorphic Ventricular Tachycardia Type 1",763,4,"0.8604421250736728"]
["C1865020","Short QT Syndrome 1",760,4,"0.7345661091043183"]
["C2348199","Short Qt Syndrome",760,4,"0.3429354255280948"]
["C3150943","Long Qt Syndrome 2",760,4,"0.629841526188619"]
["C3279093","LONG QT SYNDROME 2/9, DIGENIC",760,4,"0.7046718288484356"]
["C0022387","Jervell-Lange Nielsen Syndrome",759,4,"0.5761349352614648"]
["C1837014","Atrial Fibrillation, Familial, 3",759,4,"0.798846914699777"]
["C1865019","SHORT QT SYNDROME 2 (disorder)",759,4,"0.8150280012335906"]
["C3277700","LONG QT SYNDROME 1/2, DIGENIC (disorder)",759,4,"0.5600704718799824"]
["C0012714","Disorder of copper metabolism",757,4,"0.9584766650423687","Endocrine, nutritional and metabolic diseases"]
["C0022716","Menkes Kinky Hair Syndrome",757,4,"0.8815165361020671"]
["C1096660","Ehlers-Danlos syndrome type IX",757,4,"0.9584766650423687"]
["C1845359","Spinal Muscular Atrophy, Distal, X-Linked 3",757,4,"0.9584766650423687"]
["C0023510","Leukocyte Disorders",754,4,"0.8708959682898822","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0242597","Leukocyte-Adhesion Deficiency Syndrome",754,4,"0.8708959682898822"]
["C0272187","Congenital leukocyte adherence deficiency",754,4,"0.5926966934749797"]
["C0398738","Leukocyte adhesion deficiency type 1",754,4,"0.8923126575533546"]
["C0022573","Keratoconjunctivitis",749,4,"0.1521276262482928","Diseases of the eye and adnexa"]
["C0026755","Multiple Carboxylase Deficiency",749,4,"0.6697825576105408","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0268581","Holocarboxylase Synthetase Deficiency",749,4,"0.6802972279596962","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1396126","Perioral eczema",749,4,"0.13736858027086324"]
["C0031046","Pericarditis",737,4,"0.7652398869788269"]
["C0031048","Pericarditis, Constrictive",737,4,"0.948447210824893"]
["C1167732","Pleuropericarditis",737,4,"0.948447210824893"]
["C1859690","CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME",737,4,"0.948447210824893"]
["C0265286","Dyggve-Melchior-Clausen syndrome",725,4,"0.9741038907524329"]
["C1844654","X-linked Dyggve-Melchior-Clausen syndrome",725,4,"0.9743204422283367"]
["C1846431","SMITH-MCCORT DYSPLASIA",725,4,"0.9277174229055251"]
["C3888088","SMITH-MCCORT DYSPLASIA 1",725,4,"0.9702319108165626"]
["C0006664","Calcinosis cutis",716,4,"0.9950932510684533","Diseases of the skin and subcutaneous tissue"]
["C0030779","Pelger-Huet Anomaly",716,4,"0.9853559035665566"]
["C0748397","Reynolds syndrome",716,4,"0.9950932510684533"]
["C2931048","HEM dysplasia",716,4,"0.9950932510684533"]
["C0151747","Renal tubular disorder",714,4,"0.6564438927056846","Diseases of the genitourinary system"]
["C0268079","Hyperphosphaturia",714,4,"0.309887110871443"]
["C0268237","Cytochrome-c Oxidase Deficiency",714,4,"0.398662979694803"]
["C0268709","Renal tubular defect",714,4,"0.6568289259015833"]
["C0015624","Fanconi Syndrome",713,4,"0.7817049052144522"]
["C0341703","Adult Fanconi syndrome",713,4,"0.5929197991774396"]
["C1857395","De Toni-Debre-Fanconi Syndrome",713,4,"0.7832901378051426"]
["C3495427","Fanconi-Bickel Syndrome",713,4,"0.7179956194122243"]
["C3150674","CHROMOSOME 15q24 DELETION SYNDROME",708,4,"0.8389773239052534"]
["C3150675","CHROMOSOME 15q24 DUPLICATION SYNDROME",708,4,"0.8389773239052534"]
["C4025697","Gastrointestinal atresia",708,4,"0.5941201036686057"]
["C4310804","WITTEVEEN-KOLK SYNDROME",708,4,"0.8389773239052534"]
["C0263580","Ichthyosis hystrix",696,4,"0.8742152361227875"]
["C1833030","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC",696,4,"0.7013109752372219"]
["C1840296","Ichthyosis hystrix, Curth Macklin type",696,4,"0.8742152361227875"]
["C2931123","Keratosis palmoplantaris striata 3",696,4,"0.8742152361227875"]
["C0022584","Keratoderma, Palmoplantar, Diffuse",695,4,"0.09424778588427414"]
["C1721006","Keratoderma, Palmoplantar, Epidermolytic",695,4,"0.623962376120029"]
["C2931735","Epidermolytic palmoplantar keratoderma Vorner type",695,4,"0.667479574742936"]
["C2936837","Keratosis of Greither",695,4,"0.4807488371805247"]
["C0205713","Roussy-Levy Syndrome (disorder)",687,4,"0.2915219647932887","Diseases of the nervous system"]
["C0270911","Charcot-Marie-Tooth Disease, Type Ia (disorder)",687,4,"0.006983798253246344"]
["C0270912","Charcot-Marie-Tooth Disease, Type Ib",687,4,"0.35279613159050127"]
["C0751036","Hereditary Motor and Sensory Neuropathy Type I",687,4,"0.6636392316688107"]
["C0175697","Van der Woude syndrome",683,4,"0.5599311730720038","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265259","Popliteal pterygium syndrome",683,4,"0.4512367366732833"]
["C1302999","Ankyloblepharon filiforme adnatum",683,4,"-0.24565826815161929"]
["C1847604","Van der Woude syndrome 2",683,4,"0.15159458526721256"]
["C1861451","Stormorken Syndrome",681,4,"0.13507675351329232"]
["C2748557","Immune dysfunction with T-cell inactivation due to calcium entry defect 2",681,4,"0.3612971249830682"]
["C4011726","MYOPATHY, TUBULAR AGGREGATE, 1",681,4,"0.587886115917754"]
["C4015624","MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES",681,4,"0.19107546263873001"]
["C0013369","Dysentery",674,4,"0.5565012010686669"]
["C0022951","Lactose Intolerance",674,4,"0.7025119322424018","Endocrine, nutritional and metabolic diseases"]
["C0268181","Lactose Intolerance, Adult Type",674,4,"0.5605340902219862"]
["C1857231","LACTASE PERSISTENCE",674,4,"0.44101976176582613"]
["C0014057","Japanese Encephalitis",670,4,"0.12529101004639417","Certain infectious and parasitic diseases"]
["C0037354","Smallpox",670,4,"0.25178701965340117","Certain infectious and parasitic diseases"]
["C0043395","Yellow Fever",670,4,"0.2715412910380418","Certain infectious and parasitic diseases"]
["C1096184","West Nile viral infection",670,4,"0.14120861033824855","Certain infectious and parasitic diseases"]
["C0155118","Corneal degeneration",668,4,"0.8857334165912198","Diseases of the eye and adnexa"]
["C0271288","Corneal guttata",668,4,"0.12529869842568003"]
["C1850959","Corneal dystrophy, Fuchs\\' endothelial, 1",668,4,"0.8857334165912198"]
["C1852795","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2",668,4,"0.8857334165912198"]
["C0010308","Congenital Hypothyroidism",662,4,"0.3867830724884347","Endocrine, nutritional and metabolic diseases"]
["C0342200","Endemic Cretinism",662,4,"0.39873468870705725","Endocrine, nutritional and metabolic diseases"]
["C0917799","Hypersomnia",662,4,"-0.061700545760230874","Diseases of the nervous system"]
["C1578691","Myxedema, Congenital",662,4,"0.14577290497149853"]
["C0342883","Cholesteryl Ester Transfer Protein Deficiency",660,4,"0.526896835744397"]
["C0542037","Hypotriglyceridemia",660,4,"0.49505692326805123"]
["C3149462","HYPERALPHALIPOPROTEINEMIA 1",660,4,"-0.10585370600871524"]
["C3151467","Apolipoprotein C-III Deficiency",660,4,"0.22375473325642664"]
["C0406810","Carney Complex",656,4,"0.966104924710435"]
["C1854540","Carney Complex, Type 2",656,4,"0.9882890821196422"]
["C1864846","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)",656,4,"0.9882890821196422"]
["C2607929","Carney Complex, Type 1",656,4,"0.9878076211338328"]
["C0750384","Coumarin Resistance",653,4,"0.5655647718237956"]
["C1843832","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2",653,4,"0.619685637942766"]
["C2608079","WARFARIN SENSITIVITY (disorder)",653,4,"0.49556531633970047"]
["C2675747","Coumarin Sensitivity",653,4,"0.619685637942766"]
["C0030591","Paroxysmal ventricular tachycardia",646,4,"0.6412214985130897"]
["C1832600","Naxos disease",646,4,"0.4094582303008028"]
["C1969081","Arrhythmogenic Right Ventricular Dysplasia, Familial, 12",646,4,"0.41886624742263523"]
["C2677105","Inflammatory Bowel Disease 12",646,4,"-0.02988571523685779"]
["C0025306","Meningococcemia",643,4,"0.2591458046500854","Certain infectious and parasitic diseases"]
["C0877430","Asthma chronic",643,4,"0.704724009687437"]
["C1096458","Vascular occlusion",643,4,"0.704724009687437"]
["C2750067","Plasminogen Activator Inhibitor-1 Deficiency",643,4,"0.704724009687437"]
["C0019069","Hemophilia A",640,4,"-0.017890602316170064","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272322","Severe hereditary factor VIII deficiency disease",640,4,"0.8052338115339882"]
["C0272324","Mild hereditary factor VIII deficiency disease",640,4,"0.8046019085659679"]
["C0272325","Factor 8 deficiency, acquired",640,4,"0.800271567833889"]
["C0154835","Retinal telangiectasia",637,4,"0.42678762824667527"]
["C0917796","Optic Atrophy, Hereditary, Leber",637,4,"0.4793016146834733","Diseases of the eye and adnexa"]
["C2931092","Maternally Inherited Leigh Syndrome",637,4,"0.12136161309338239"]
["C3887709","Optic Neuropathy",637,4,"0.3628349824329477"]
["C0014173","Endometrial Hyperplasia",631,4,"0.9747354035273748","Diseases of the genitourinary system"]
["C0349578","Complex Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0349579","Atypical Endometrial Hyperplasia",631,4,"0.9911635507461023","Diseases of the genitourinary system"]
["C0456483","Simple Endometrial Hyperplasia",631,4,"0.9901067057039784"]
["C0036659","Sensation Disorders",617,4,"0.9948185555107496"]
["C0152027","Sensory Disorders",617,4,"0.9948185555107496","Diseases of the eye and adnexa"]
["C0751497","Special Senses Disorders",617,4,"0.9948185555107496"]
["C1853250","SPINOCEREBELLAR ATAXIA 23",617,4,"0.984548938512703"]
["C1843164","Charcot-Marie-Tooth disease, demyelinating, Type 1F",606,4,"0.42857409159930243"]
["C1843225","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)",606,4,"0.4078340961192487"]
["C1843228","Hypotrophy of the small hand muscles",606,4,"0.644882000942607"]
["C1864871","Chromosome 17q21.31 Deletion Syndrome",606,4,"0.22390388909385858"]
["C1839333","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2",593,4,"-0.03684790715828962"]
["C1970200","MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",593,4,"0.0624649959380764"]
["C3150988","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",593,4,"-0.1953277045552747"]
["C3554316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15",593,4,"0.20570769240111966"]
["C0399368","Amelogenesis Imperfecta, Type IB",585,4,"0.5256498535039031"]
["C2673923","Amelogenesis Imperfecta, Type Ic",585,4,"0.5256498535039031"]
["C3553830","AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4",585,4,"0.1924090306536971"]
["C3665628","Hypomineralization of enamel of tooth",585,4,"0.16971919262974824"]
["C1855432","Mandibulofacial Dysostosis with Mental Deficiency",575,4,"1.0"]
["C1858806","CONE-ROD DYSTROPHY 3 (disorder)",575,4,"1.0"]
["C1866422","RETINITIS PIGMENTOSA 19",575,4,"1.0"]
["C3495438","Macular Degeneration, Age-Related, 2",575,4,"1.0"]
["C0239777","Color Blindness, Green",566,4,"0.9983506950080441"]
["C0242225","Color blindness",566,4,"0.9950754269291268","Diseases of the eye and adnexa"]
["C0751042","Color Blindness, Inherited",566,4,"0.9983506950080441"]
["C0751043","Monochromatopsia",566,4,"0.9983506950080441"]
["C0019625","Sinus histiocytosis",564,4,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0235592","Cervical lymphadenopathy",564,4,"1.0"]
["C0432262","Dysosteosclerosis",564,4,"1.0"]
["C1864445","Histiocytosis with joint contractures and sensorineural deafness",564,4,"1.0"]
["C0432347","Uncombable hair syndrome",548,4,"0.8035445441555604"]
["C4020850","Generalized trichodysplasia",548,4,"0.8792453047085022"]
["C4025700","Trichodysplasia",548,4,"0.8792453047085022"]
["C4310649","UNCOMBABLE HAIR SYNDROME 2",548,4,"0.6533279180232886"]
["C3150733","LONG QT SYNDROME 13",547,4,"1.0"]
["C3150933","HYPERALDOSTERONISM, FAMILIAL, TYPE III",547,4,"1.0"]
["C4020742","Familial primary hyperaldosteronism type 2",547,4,"1.0"]
["C4023208","Glucocortocoid-insensitive primary hyperaldosteronism",547,4,"1.0"]
["C0040412","Fissured tongue",541,4,"0.38932353203088294","Diseases of the digestive system"]
["C2676500","COWDEN-LIKE SYNDROME (disorder)",541,4,"0.5389857094951794"]
["C3272802","Hamartomatous polyposis",541,4,"0.49314407207659977"]
["C4021849","Conjunctival hamartoma",541,4,"0.5685941207687314"]
["C1708353","Hereditary Paraganglioma-Pheochromocytoma Syndrome",540,4,"0.10474032977052136"]
["C1847319","PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA",540,4,"0.5438111202472165"]
["C1858592","Carney Triad",540,4,"0.24373366452987683"]
["C4025693","Hypertension associated with pheochromocytoma",540,4,"0.535271664386681"]
["C3150412","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3",513,4,"0.6020080495063018"]
["C3150417","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3",513,4,"0.8973661853444033"]
["C3151519","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3",513,4,"0.8472780013808121"]
["C4310704","RETINITIS PIGMENTOSA 76",513,4,"0.8973661853444033"]
["C0268354","De Barsy syndrome",498,4,"1.0"]
["C1832669","SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)",498,4,"1.0"]
["C4225268","CUTIS LAXA, AUTOSOMAL DOMINANT 3",498,4,"1.0"]
["C4225272","SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE",498,4,"1.0"]
["C0002949","Aneurysm, Dissecting",495,4,"0.4190083652153722"]
["C1836635","Loeys-Dietz Aortic Aneurysm Syndrome",495,4,"0.5807935621083864"]
["C2697932","Loeys-Dietz Syndrome",495,4,"0.626170220235011"]
["C2697933","Loeys-Dietz Syndrome Type 1",495,4,"0.3284215457493587"]
["C0013405","Dyspnea, Paroxysmal",494,4,"0.4382772547496848"]
["C0392775","Cystic medial necrosis of aorta",494,4,"0.713618069507514"]
["C1851504","Aortic aneurysm, familial thoracic 4",494,4,"0.3048062818948684"]
["C4022878","Descending aortic dissection",494,4,"0.4382772547496848"]
["C0220769","FG syndrome",490,4,"-0.19322498888243209"]
["C1845546","FG SYNDROME 4 (disorder)",490,4,"0.5026408659875414"]
["C1845567","FG SYNDROME 3",490,4,"0.8520462774939725"]
["C1845902","FG SYNDROME 2",490,4,"0.3975884093134954"]
["C0029118","Opportunistic Infections",487,4,"0.44372825067254085"]
["C0085315","Toxoplasmosis, Cerebral",487,4,"0.7452767268722191","Certain infectious and parasitic diseases"]
["C0398689","Hyper-IgM Immunodeficiency Syndrome, Type 1",487,4,"0.7676232667375996"]
["C1863767","Light Fixation Seizure Syndrome",487,4,"0.34036162480314885"]
["C0270246","Meconium plug syndrome",484,4,"0.8684151328108605"]
["C0398349","Distal intestinal obstruction syndrome",484,4,"-0.05192123239712883","Endocrine, nutritional and metabolic diseases"]
["C2939175","Meconium ileus",484,4,"0.8993817382526215","Certain conditions originating in the perinatal period"]
["C3553270","DIARRHEA 6",484,4,"0.8684151328108605"]
["C0267937","Acute recurrent pancreatitis",481,4,"0.6551856257743953","Diseases of the digestive system"]
["C0341471","Idiopathic chronic pancreatitis",481,4,"0.6557646647913911"]
["C0747198","pancreatitis idiopathic",481,4,"0.24422481763496753"]
["C2609129","Autoimmune pancreatitis",481,4,"0.4201820765467514"]
["C0341862","Hypothalamic amenorrhea",479,4,"1.0"]
["C3554224","LEPTIN DEFICIENCY OR DYSFUNCTION",479,4,"1.0"]
["C3824872","Obesity in animals",479,4,"1.0"]
["C3838754","Congenital leptin deficiency",479,4,"1.0"]
["C0020497","Cortical Congenital Hyperostosis",461,4,"1.0","Diseases of the musculoskeletal system and connective tissue"]
["C1852924","OI-EDS Combined Syndrome",461,4,"1.0"]
["C1859069","Brittle Bone Disorder",461,4,"1.0"]
["C4303786","Ehlers-Danlos syndrome vascular-like type",461,4,"1.0"]
["C0268335","Ehlers-Danlos syndrome type 1",457,4,"0.5097784985631036"]
["C0268336","Ehlers-Danlos syndrome type 2",457,4,"0.6571812235074784"]
["C3840085","Disorder of Achilles tendon",457,4,"0.39971956502070516"]
["C4225429","Ehlers-Danlos syndrome classic type",457,4,"0.42484294501622777"]
["C1837187","MACULAR DEGENERATION, AGE-RELATED, 3",453,4,"0.9332428068483192"]
["C2931134","Cutis laxa, recessive",453,4,"0.7985504056978433"]
["C3665335","Cutis laxa, autosomal recessive",453,4,"0.9332428068483192"]
["C4225406","NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION",453,4,"0.9332428068483192"]
["C0014836","Escherichia coli Infections",436,4,"0.42148715921281665","Certain infectious and parasitic diseases"]
["C1096063","Drug Resistant Epilepsy",436,4,"0.5351995344085753"]
["C1861502","COLCHICINE RESISTANCE",436,4,"0.7518401423529796"]
["C2677101","Inflammatory Bowel Disease 13",436,4,"0.7518401423529796"]
["C0019114","Hemosiderosis",428,4,"0.886579780043549"]
["C0268059","Neonatal hemochromatosis",428,4,"0.886579780043549","Certain conditions originating in the perinatal period"]
["C1867968","Porphyria Cutanea Tarda, Type I",428,4,"0.6884321998706283"]
["C3469186","HEMOCHROMATOSIS, TYPE 1",428,4,"0.5059919153578046"]
["C0029421","Osteochondritis Dissecans",425,4,"0.6118752508401556","Diseases of the musculoskeletal system and connective tissue"]
["C0038012","Spondylitis",425,4,"0.8730318364465777","Diseases of the musculoskeletal system and connective tissue"]
["C2748544","Spondyloepimetaphyseal Dysplasia, Aggrecan Type",425,4,"0.8730318364465777"]
["C3665488","Familial Osteochondritis Dissecans",425,4,"0.8730318364465777"]
["C0750145","Occlusive vascular disease",416,4,"0.9870622703220427"]
["C1306889","Peripheral arterial occlusive disease",416,4,"0.9956471897164249"]
["C4025272","Peripheral arterial stenosis",416,4,"0.9956471897164249"]
["C4531019","Arterial disease of legs",416,4,"0.9956471897164249"]
["C0432242","Desbuquois syndrome",411,4,"0.6340681843813915"]
["C3278482","DESBUQUOIS DYSPLASIA, KIM VARIANT",411,4,"0.5918089323106626"]
["C4012146","DESBUQUOIS DYSPLASIA 1",411,4,"0.5918089323106626"]
["C4014294","DESBUQUOIS DYSPLASIA 2",411,4,"-0.29884429387514977"]
["C0021100","Bullous impetigo",398,4,"0.6195026896156528","Diseases of the skin and subcutaneous tissue"]
["C1838099","ABCD syndrome",398,4,"0.6195026896156528"]
["C1848519","WAARDENBURG SYNDROME, TYPE 4A",398,4,"0.5927490122715962"]
["C3266898","Waardenburg Syndrome",398,4,"-0.15530663933950462"]
["C1859728","Coronary Sclerosis, Medial, of Infancy",391,4,"0.8578268889014156"]
["C1865343","OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE",391,4,"0.7720249593661535"]
["C2750078","Hypophosphatemic Rickets, Autosomal Recessive, 2",391,4,"0.7402068407264089"]
["C3809781","Cole disease",391,4,"0.8578268889014156"]
["C0796093","Odontoonychodermal dysplasia",380,4,"1.0"]
["C1835492","TOOTH AGENESIS, SELECTIVE, 4 (disorder)",380,4,"1.0"]
["C1835493","Succedaneous Teeth, Agenesis Of",380,4,"1.0"]
["C1857069","SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)",380,4,"1.0"]
["C1837091","MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",353,4,"0.8744625288866678"]
["C1853949","MYASTHENIA, FAMILIAL INFANTILE, 1",353,4,"0.9667328529971798"]
["C4225369","MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL",353,4,"0.9667328529971798"]
["C4225413","MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL",353,4,"0.9667328529971798"]
["C2673759","DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)",349,4,"0.9212275477673364"]
["C2673760","DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)",349,4,"0.893680927092244"]
["C2673761","DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)",349,4,"0.8494363596187566"]
["C3665333","Keratitis-Ichthyosis-Deafness Syndrome",349,4,"0.7237192186662726"]
["C4011788","Behavioral variant of frontotemporal dementia",347,4,"0.7960292379557252"]
["C4021584","Frontotemporal cerebral atrophy",347,4,"0.7000467182622997"]
["C4024936","Temporal cortical atrophy",347,4,"0.7287840688620689"]
["C4024956","Grammar-specific speech disorder",347,4,"0.7900381285986946"]
["C0270920","Supranuclear paralysis",346,4,"0.7816267884283268"]
["C0338460","Argyrophilic grain disease",346,4,"0.5149372574107562"]
["C0393570","Corticobasal degeneration",346,4,"0.7499873031211506","Diseases of the nervous system"]
["C1850077","Supranuclear Palsy, Progressive, 1, Atypical",346,4,"0.7816267884283268"]
["C0477548","Other chondrocalcinosis",337,4,"0.6929768292601719","Diseases of the musculoskeletal system and connective tissue"]
["C1853256","Hyperostosis-hyperphosphatemia syndrome",337,4,"0.36222361567655775"]
["C1876187","TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL",337,4,"0.37767540826615736"]
["C2931105","Hypercalciuria, childhood idiopathic",337,4,"0.2494154124977662"]
["C0038833","Superior Vena Cava Syndrome",333,4,"1.0"]
["C0038834","Superior Vena Cava Thrombosis",333,4,"1.0"]
["C0267941","Pancreatitis, Acute Necrotizing",333,4,"1.0"]
["C3150644","BRACHYDACTYLY, TYPE E2",333,4,"1.0"]
["C0009952","Febrile Convulsions",324,4,"0.6548578885751679","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0149886","Seizure, Febrile, Simple",324,4,"0.7227548946665688","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0751057","Seizure, Febrile, Complex",324,4,"0.7220998107108489","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C3502809","Generalized Epilepsy with Febrile Seizures Plus",324,4,"0.2901928195760584"]
["C0205858","General Paralysis",316,4,"0.4336675050527473","Certain infectious and parasitic diseases"]
["C3280415","COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA",316,4,"0.7149075838121606"]
["C3281191","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13",316,4,"0.6351962755291004"]
["C4310728","SEIZURES, BENIGN FAMILIAL INFANTILE, 5",316,4,"0.7149075838121606"]
["C0014804","Erythromelalgia",295,4,"0.9798909948940998","Diseases of the circulatory system"]
["C1855739","Indifference to Pain, Congenital, Autosomal Recessive",295,4,"0.9798909948940998"]
["C3178789","Widespread Chronic Pain",295,4,"0.9681508168503132"]
["C3276706","Small Fiber Neuropathy",295,4,"0.953713000278888"]
["C0085413","Polycystic Kidney, Autosomal Dominant",287,4,"0.25835982100767013","Congenital malformations, deformations and chromosomal abnormalities"]
["C0268800","Simple renal cyst",287,4,"0.27754182989834264"]
["C0887850","Polycystic Kidney, Type 1 Autosomal Dominant Disease",287,4,"0.5643170146788113"]
["C2751306","Polycystic kidney disease, type 2",287,4,"0.7103520152344922"]
["C0010709","Cyst",286,4,"0.314153182593162"]
["C0334054","cystic disease",286,4,"0.43401777605374775"]
["C1868148","Potter Type III Polycystic Kidney Disease",286,4,"0.7202711540267214"]
["C3149841","POLYCYSTIC KIDNEY DISEASE 1",286,4,"0.6945858581096166"]
["C0950121","Denys-Drash Syndrome",278,4,"0.9961134680692632"]
["C0950122","Frasier Syndrome",278,4,"0.9917435815070899"]
["C1837026","MEACHAM SYNDROME (disorder)",278,4,"0.9969524000045875"]
["C3151568","NEPHROTIC SYNDROME, TYPE 4",278,4,"0.9969524000045875"]
["C1860042","Antley-Bixler Syndrome with Disordered Steroidogenesis",269,4,"0.7154671483785482"]
["C2350233","Antley-Bixler Syndrome Phenotype",269,4,"0.5628418633883937"]
["C2936791","Antley-Bixler Syndrome, Autosomal Dominant",269,4,"-0.6364318420219457"]
["C3150099","ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS",269,4,"0.2511528835159662"]
["C0268355","Cutis Laxa, Autosomal Recessive, Type IIA",262,4,"0.7733988709303551"]
["C0406587","Wrinkly skin syndrome",262,4,"0.4200493140061857"]
["C4479387","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC",262,4,"0.6186581197395332"]
["C4479409","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID",262,4,"0.6186581197395332"]
["C1838100","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)",261,4,"0.9914448870317187"]
["C1840646","Hepatic Adenomas, Familial",261,4,"0.997160994457789"]
["C2675866","DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)",261,4,"0.997160994457789"]
["C4303475","Hyperinsulinism due to HNF1A deficiency",261,4,"0.997160994457789"]
["C0586358","Biliary Intraepithelial Neoplasia",259,4,"0.859722580419669"]
["C1838329","APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS",259,4,"0.8009035860753763"]
["C1860991","NOONAN SYNDROME 3",259,4,"0.7966027159865176"]
["C3809005","CARDIOFACIOCUTANEOUS SYNDROME 2",259,4,"0.7421456764536136"]
["C0268124","Adenosine deaminase deficiency",243,4,"0.9961400504485656","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0392607","Severe combined immunodeficiency due to adenosine deaminase deficiency",243,4,"0.989498869051779"]
["C1863236","SCID Due to ADA Deficiency, Early-Onset",243,4,"0.9948941602845729"]
["C1863239","Partial adenosine deaminase deficiency",243,4,"0.9948941602845729"]
["C0265216","X-linked hydrocephalus syndrome",237,4,"0.9796833989309816"]
["C0795953","MASA SYNDROME (disorder)",237,4,"0.9929893597339878"]
["C1839909","CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED",237,4,"0.9929106409109929"]
["C1844006","Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction",237,4,"0.9929106409109929"]
["C0085702","Monocytosis",211,4,"0.12792032357732802"]
["C0272183","Qualitative abnormality of granulocyte",211,4,"0.7687172741289907"]
["C2675526","Neutropenia, Severe Congenital, Autosomal Recessive 4",211,4,"0.7926872639946244"]
["C2751630","Dursun Syndrome",211,4,"0.7173470483734147"]
["C0031024","Suppurative Periapical Periodontitis",210,4,"0.8786183589438135"]
["C0221023","Cyclic neutropenia",210,4,"0.8717659801155617","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1859966","Neutropenia, Severe Congenital, Autosomal Dominant 1",210,4,"0.4452213445746989"]
["C3671688","Cyclic Hematopoesis",210,4,"0.8786183589438135"]
["C3151513","MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)",208,4,"0.7887256405736275"]
["C3711385","Deoxyguanosine Kinase Deficiency",208,4,"0.202928994485112"]
["C4310733","PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4",208,4,"0.8277342624068593"]
["C4310735","PORTAL HYPERTENSION, NONCIRRHOTIC",208,4,"0.8277342624068593"]
["C0024291","Lymphohistiocytosis, Hemophagocytic",198,4,"0.35312140083346233","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0398794","Hypopigmentation-immunodeficiency disease",198,4,"0.3739540744581038"]
["C1868679","GRISCELLI SYNDROME, TYPE 2",198,4,"0.7391870312868701"]
["C3887558","Hemophagocytic Syndrome",198,4,"0.6268040040887832"]
["C0451720","Nephrotic syndrome, focal and segmental glomerular lesions",194,4,"1.0","Diseases of the genitourinary system"]
["C2902887","Nephrotic syndrome with focal and segmental hyalinosis",194,4,"1.0","Diseases of the genitourinary system"]
["C2902888","Nephrotic syndrome with focal and segmental sclerosis",194,4,"1.0","Diseases of the genitourinary system"]
["C2902889","Nephrotic syndrome with focal glomerulonephritis",194,4,"1.0","Diseases of the genitourinary system"]
["C0085278","Antiphospholipid Syndrome",189,4,"0.6552586323302864","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1395512","Placental dysfunction",189,4,"0.856543739091351"]
["C1836302","Carotid Intimal Medial Thickness 1",189,4,"0.856543739091351"]
["C3875007","Nodular thyroid disease",189,4,"0.856543739091351"]
["C0271694","Familial partial lipodystrophy",188,4,"0.9233690747837066"]
["C1720859","Familial Partial Lipodystrophy, Type 1",188,4,"0.9276673579257069"]
["C1720860","Familial Partial Lipodystrophy, Type 2",188,4,"0.7822267228927892"]
["C1720861","Familial Partial Lipodystrophy, Type 3",188,4,"0.6894463198291556"]
["C0022682","Kienbock Disease",185,4,"0.9617109749415937"]
["C0024950","Maxillary Diseases",185,4,"0.9617109749415937"]
["C1850155","TORG-WINCHESTER SYNDROME",185,4,"0.8904162511903769"]
["C4024732","Ankylosis of feet small joints",185,4,"0.9617109749415937"]
["C0011644","Scleroderma",182,4,"0.6767100101356879"]
["C0036420","Localized scleroderma",182,4,"0.8924031484606498","Diseases of the skin and subcutaneous tissue"]
["C0263409","Linear Scleroderma",182,4,"0.8908365329532832","Diseases of the skin and subcutaneous tissue"]
["C1527383","Morphea",182,4,"0.8908365329532832"]
["C0152458","Leukocoria",172,4,"0.598085851562855","Diseases of the eye and adnexa"]
["C1327916","REVESZ SYNDROME (disorder)",172,4,"0.30082344945229544"]
["C3151302","Chromosome 13q14 deletion syndrome",172,4,"0.06853308659889465"]
["C3151445","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3",172,4,"0.30082344945229544"]
["C1260386","Glucocorticoid-remediable aldosteronism",158,4,"0.8397479817803102","Endocrine, nutritional and metabolic diseases"]
["C4020743","Glucocorticoid-remediable familial primary aldosteronism",158,4,"0.9695593994273085"]
["C4020744","Familial primary hyperaldosteronism type 1",158,4,"0.9695593994273085"]
["C4023209","Dexamethasone-suppresible primary hyperaldosteronism",158,4,"0.9695593994273085"]
["C0007274","Carotid Artery Thrombosis",152,4,"1.0"]
["C0750988","Common Carotid Artery Thrombosis",152,4,"1.0"]
["C0750989","External Carotid Artery Thrombosis",152,4,"1.0"]
["C0750990","Internal Carotid Artery Thrombosis",152,4,"1.0"]
["C0040015","Thrombasthenia",151,4,"0.7241196326532091","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0477317","Other primary thrombocytopenia",151,4,"0.5454733586788403","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1861195","Glanzmann Thrombasthenia, Autosomal Dominant",151,4,"0.7572145657584199"]
["C3179396","Glanzmann Thrombasthenia, Type A",151,4,"0.7551898339705112"]
["C0007684","Central Nervous System Infection",132,4,"0.8961309741885332"]
["C0041318","Tuberculosis, Meningeal",132,4,"0.6727742748514777","Certain infectious and parasitic diseases"]
["C0497299","meningitis/encephalitis",132,4,"0.8961309741885334"]
["C0948264","Neuroborreliosis",132,4,"0.8961309741885332"]
["C0020192","Hyaline Membrane Disease",118,4,"0.5080246503896813","Certain conditions originating in the perinatal period"]
["C0035220","Respiratory Distress Syndrome, Newborn",118,4,"0.5658529753029062","Certain conditions originating in the perinatal period"]
["C0238378","Desquamative interstitial pneumonia",118,4,"0.15987212213255061","Diseases of the respiratory system"]
["C0852283","Respiratory Distress Syndrome",118,4,"0.65512356634232"]
["C0001306","Acute alcoholic liver disease",116,4,"0.7883071854459298"]
["C0276926","Schistosoma hematobium infection",116,4,"0.7930542201453316"]
["C1290344","Nonspecific interstitial pneumonia",116,4,"-0.003977874222303178"]
["C3874381","Childhood nephrotic syndrome",116,4,"0.7930542201453316"]
["C0751757","Hypersomnolence, Idiopathic",108,4,"1.0","Diseases of the nervous system"]
["C1834372","Narcolepsy 1",108,4,"1.0"]
["C4025713","Paroxysmal drowsiness",108,4,"1.0"]
["C4543926","Narcolepsy type 1",108,4,"1.0"]
["C0733682","Hypophosphatemic Rickets, X-Linked Dominant",98,4,"0.8337381495998483"]
["C1845168","Hypophosphatemic Rickets, X-Linked Recessive",98,4,"0.2865383862997202"]
["C3536984","Vitamin D-Resistant Rickets, X-Linked",98,4,"0.8823162383146065"]
["C3540852","Rickets, X-Linked Hypophosphatemic",98,4,"0.8712321537120127"]
["C0021818","Intervertebral Disk Displacement",91,4,"0.9002539365630688"]
["C0265235","Marshall syndrome",91,4,"0.9566780682623128"]
["C1858084","STICKLER SYNDROME, TYPE II (disorder)",91,4,"0.9329235276945852"]
["C3278138","FIBROCHONDROGENESIS 1",91,4,"0.9566780682623128"]
["C0268390","Muckle-Wells Syndrome",90,4,"0.9370969390800725","Diseases of the musculoskeletal system and connective tissue"]
["C0343068","Familial cold urticaria",90,4,"0.9381121495163054","Diseases of the musculoskeletal system and connective tissue"]
["C0409818","Chronic Infantile Neurological, Cutaneous, and Articular Syndrome",90,4,"0.9369937232101854","Diseases of the musculoskeletal system and connective tissue"]
["C2316212","Cryopyrin-Associated Periodic Syndromes",90,4,"0.8984410997373868","Diseases of the musculoskeletal system and connective tissue"]
["C0162668","Megaconial Myopathies",79,4,"0.8236839081654147"]
["C0162669","Pleoconial Myopathies",79,4,"0.8236839081654147"]
["C0162670","Mitochondrial Myopathies",79,4,"0.6252241160678531"]
["C0949496","Luft Disease",79,4,"0.8236839081654147"]
["C0011636","Dermatophytosis",78,4,"0.9010049904006909","Certain infectious and parasitic diseases"]
["C0040247","Tinea",78,4,"0.9010049904006909","Certain infectious and parasitic diseases"]
["C1262313","Invasive Fungal Infections",78,4,"0.7059847213506212"]
["C1859353","Candidiasis, Familial, 2",78,4,"0.8498195871044587"]
["C0017531","Angiolymphoid hyperplasia",71,4,"0.7836456598782989","Neoplasms"]
["C0085663","Plasmacytosis",71,4,"0.5640227428535829","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0854706","Neonatal infection",71,4,"0.7879726612329239"]
["C1304456","Congo hemorrhagic fever",71,4,"0.7879726612329239"]
["C0085655","Polymyositis",59,4,"0.8582276889857904","Diseases of the musculoskeletal system and connective tissue"]
["C0263984","Polymyositis Ossificans",59,4,"0.8700067079694199"]
["C0343755","HIV Wasting Syndrome",59,4,"0.5601254945499557"]
["C0554591","Polymyositis, Idiopathic",59,4,"0.8700067079694199"]
["C0022806","Kwashiorkor",54,4,"0.8410997792706195","Endocrine, nutritional and metabolic diseases"]
["C0151482","Megaloblastic anemia due to folate deficiency",54,4,"0.8410997792706195","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0744483","growth hormone treatment",54,4,"0.4903928473083416"]
["C1837475","Insulin-Like Growth Factor I Deficiency",54,4,"0.8488047513870637"]
["C0271561","Somatotropin deficiency",52,4,"0.6066731568781064"]
["C0271567","Isolated Growth Hormone Deficiency, Type II",52,4,"0.5585647731485216"]
["C1849779","Kowarski syndrome",52,4,"0.6120054610502512"]
["C2748571","Isolated Growth Hormone Deficiency, Type IB",52,4,"0.548848300913015"]
["C0751912","Paraneoplastic Encephalomyelitis",51,4,"0.7200259189531595"]
["C1868139","Medullary cystic kidney disease 1",51,4,"0.8460403869251556"]
["C2919861","Medullary cystic kidney disease type 1",51,4,"-0.03064740386634348"]
["C4025730","Renal cortical atrophy",51,4,"0.8209579156411062"]
["C1838577","Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy",44,4,"0.9989343617156948"]
["C1857813","Macular Degeneration, Age-Related, 7",44,4,"0.9996445193767856"]
["C4225211","CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2",44,4,"0.9996445193767856"]
["C4293701","Status cribrosum",44,4,"0.9996445193767856"]
["C0007781","Intracranial Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0149649","Cholesterol Embolism",23,4,"0.9999999999999991","Diseases of the circulatory system"]
["C0877855","Cerebral Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0936247","Brain Embolism and Thrombosis",23,4,"0.9999999999999991"]
["C0037198","Sinus Thrombosis, Intracranial",19,4,"0.9939146892934239"]
["C0751500","Petrous Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751501","Intracranial Sinus Thrombophlebitis",19,4,"0.9979622675199792"]
["C0751502","Petrous Sinus Thrombosis",19,4,"0.9979622675199792"]
["C1861481","Stickler syndrome, type 3",11,4,"0.9986611192663502"]
["C1864746","Deafness, Autosomal Recessive 53",11,4,"0.9986611192663502"]
["C1866095","Deafness, Autosomal Dominant 13",11,4,"0.9959982122348776"]
["C3281128","FIBROCHONDROGENESIS 2",11,4,"0.9986611192663502"]
["C0038557","Submandibular Gland Diseases",7,4,"1.0"]
["C1866075","GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)",7,4,"1.0"]
["C3888104","Glomerulopathy with fibronectin deposits",7,4,"1.0"]
["C4025275","Generalized distal tubular acidosis",7,4,"1.0"]
["C1836206","Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction",2197,3,"1.0"]
["C1843758","Camptosynpolydactyly, Complex",2197,3,"1.0"]
["C1861553","Split-Hand-Foot Malformation With Long Bone Deficiency 1",2197,3,"1.0"]
["C4225296","MENTAL RETARDATION, AUTOSOMAL DOMINANT 39",2188,3,"1.0"]
["C4225432","CHROMOSOME 2p25.3 DUPLICATION SYNDROME",2188,3,"1.0"]
["C4225433","CHROMOSOME 2p25.3 DELETION SYNDROME",2188,3,"1.0"]
["C0085417","Epilepsy, Complex Partial",2187,3,"1.0"]
["C0751640","Cryptogenic Partial Complex Epilepsy",2187,3,"1.0"]
["C0751641","Epilepsy, Symptomatic, Partial Complex",2187,3,"1.0"]
["C0749398","Recurrent thromboembolic disease",2170,3,"1.0"]
["C2751090","Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency",2170,3,"1.0"]
["C2751091","Thrombophilia Due To Elevated Histidine-Rich Glycoprotein",2170,3,"1.0"]
["C0795942","Fitzsimmons-Guilbert syndrome",2164,3,"1.0"]
["C1865644","Plantar Lipomatosis, Unusual Facies, and Developmental Delay",2164,3,"1.0"]
["C4310784","MENTAL RETARDATION, AUTOSOMAL DOMINANT 41",2164,3,"1.0"]
["C0795902","Coloboma, cleft lip-palate and mental retardation syndrome",2160,3,"1.0"]
["C1852750","Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation",2160,3,"1.0"]
["C3805432","COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION",2160,3,"1.0"]
["C0038041","Spotted Fever Group Rickettsiosis",2152,3,"1.0","Certain infectious and parasitic diseases"]
["C0041471","TYPHUS",2152,3,"1.0","Certain infectious and parasitic diseases"]
["C0343758","Typhus group rickettsial disease",2152,3,"1.0"]
["C1721005","Leukokeratosis, Hereditary Mucosal",2146,3,"0.679531899621618"]
["C4011926","WHITE SPONGE NEVUS 1",2146,3,"0.4374897000674704"]
["C4014321","WHITE SPONGE NEVUS 2",2146,3,"0.24201997154868293"]
["C1844830","CLEFT PALATE, X-LINKED",2135,3,"0.989906112369607"]
["C1844831","Cleft Palate with Ankyloglossia",2135,3,"0.9769731530823363"]
["C1844862","Abruzzo Erickson syndrome",2135,3,"0.989906112369607"]
["C0393770","Delayed Sleep Phase Syndrome",2132,3,"0.6821691427057723","Diseases of the nervous system"]
["C0751758","Advanced Sleep Phase Syndrome",2132,3,"0.7002555714487356","Diseases of the nervous system"]
["C4225266","IMMUNODEFICIENCY 42",2132,3,"0.34023871987494253"]
["C0342765","D-Glyceric aciduria",2127,3,"1.0"]
["C1291386","D-glycericacidemia",2127,3,"1.0","Endocrine, nutritional and metabolic diseases"]
["C3887877","Deficiency of glycerate kinase",2127,3,"1.0"]
["C0035613","Rift Valley Fever",2115,3,"0.22044627714701656","Certain infectious and parasitic diseases"]
["C0483368","Human anaplasmosis due to Anaplasma phagocytophilum",2115,3,"0.23389454682244462"]
["C3151068","RETINITIS PIGMENTOSA 44",2115,3,"0.05352557818713353"]
["C1857588","Amaurosis hypertrichosis",2113,3,"1.0"]
["C2931074","Cone rod dystrophy amelogenesis imperfecta",2113,3,"1.0"]
["C3495589","Jalili syndrome",2113,3,"1.0"]
["C0265246","Townes syndrome",2096,3,"0.6538065322694053"]
["C1862683","Townes-Brocks-Branchiootorenal-Like Syndrome",2096,3,"0.39916204225302143"]
["C4479534","TOWNES-BROCKS SYNDROME 2",2096,3,"0.20090481602953247"]
["C1847973","Persistent Polyclonal B-Cell Lymphocytosis",2095,3,"0.9979012783369534"]
["C3554686","IMMUNODEFICIENCY 11",2095,3,"0.9989503257576544"]
["C4539957","IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS",2095,3,"0.9989503257576544"]
["C1851943","DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)",2094,3,"0.9448204905250485"]
["C1860315","Whispering dysphonia, hereditary",2094,3,"0.9448204905250485"]
["C2676244","Leukodystrophy, Hypomyelinating, 6",2094,3,"0.8901666664439845"]
["C0035585","Rickettsia Infections",2091,3,"1.0","Certain infectious and parasitic diseases"]
["C0162699","Tick-Borne Infections",2091,3,"1.0"]
["C0162700","Tick-Borne Diseases",2091,3,"1.0"]
["C0087031","Juvenile-Onset Still Disease",2090,3,"0.9838915427265115","Diseases of the musculoskeletal system and connective tissue"]
["C3495559","Juvenile arthritis",2090,3,"0.990405738473321","Diseases of the musculoskeletal system and connective tissue"]
["C3714758","Juvenile psoriatic arthritis",2090,3,"0.9897060628659469"]
["C0268632","Homocarnosinosis",2089,3,"1.0"]
["C3495554","Homocarnosinase deficiency",2089,3,"1.0"]
["C3495555","Carnosinemia",2089,3,"1.0"]
["C1853942","CITRULLINEMIA, TYPE II, NEONATAL-ONSET",2085,3,"0.9983849875296601"]
["C1863844","Adult-onset citrullinemia type 2",2085,3,"0.9966980156716021"]
["C1997910","Citrin deficiency",2085,3,"0.9983849875296601"]
["C0206744","T-Lymphocytopenia, Idiopathic CD4-Positive",2081,3,"1.0"]
["C0242770","Bronchiolitis Obliterans Organizing Pneumonia",2081,3,"1.0","Diseases of the respiratory system"]
["C3809768","IMMUNODEFICIENCY 13",2081,3,"1.0"]
["C0796200","Wieacker-Wolff syndrome",2078,3,"0.6236388647871671"]
["C1839735","MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME",2078,3,"0.6236388647871671"]
["C1844934","Arthrogryposis multiplex congenita, distal, X-linked",2078,3,"0.33817167919363617"]
["C0220993","Cystathioninuria",2071,3,"0.9836309057418554","Endocrine, nutritional and metabolic diseases"]
["C0268616","Gamma-cystathionase deficiency",2071,3,"0.9928959136051811"]
["C3495552","Cystathionase Deficiency",2071,3,"0.9928959136051811"]
["C0013949","Embryopathies",2069,3,"0.8349200754522336"]
["C0015929","Fetal Diseases",2069,3,"0.845359548091624"]
["C3150891","COCOON SYNDROME",2069,3,"0.7041825049843902"]
["C0341698","Atrophy of kidney",2063,3,"0.9800181943609076"]
["C1857512","Temtamy syndrome",2063,3,"0.9901807611066603"]
["C2931500","Microphthalmia and mental deficiency",2063,3,"0.9901807611066603"]
["C1846367","Spinocerebellar ataxia 19",2061,3,"1.0"]
["C2746067","Spinocerebellar ataxia 22",2061,3,"1.0"]
["C4225340","BRUGADA SYNDROME 9",2061,3,"1.0"]
["C0748903","spinal cord involvement",2059,3,"0.5687426290587779"]
["C1970180","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation",2059,3,"0.37738193520305036"]
["C3809008","HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY",2059,3,"0.13177922814717405"]
["C1865818","DYSTONIA 7, TORSION (disorder)",2057,3,"0.7992532628028953"]
["C1865819","CERVICAL DYSTONIA, PRIMARY",2057,3,"0.7992532628028953"]
["C3538999","DYSTONIA 23",2057,3,"0.5685229120141311"]
["C0339383","Choroidal and/or chorioretinal disorder",2051,3,"1.0"]
["C1835265","Lymphedema, microcephaly and chorioretinopathy syndrome",2051,3,"1.0"]
["C3501946","Microcephaly with Chorioretinopathy, Autosomal Dominant",2051,3,"1.0"]
["C0796179","Teebi syndrome",2044,3,"0.9465375303530923"]
["C1801950","Opitz-G syndrome, type 2",2044,3,"0.8612964299174338"]
["C1838348","Oculomaxillofacial dysostosis",2044,3,"0.9514073266713499"]
["C0263874","Degeneration of lumbar intervertebral disc",2042,3,"0.48952620884826686"]
["C1850318","Omodysplasia type 1",2042,3,"0.7448695135327715"]
["C2936816","Micromelic dysplasia, congenital, with dislocation of radius",2042,3,"0.7484425347418621"]
["C0268474","Hydroxykynureninuria",2039,3,"1.0"]
["C4024950","Nonprogressive encephalopathy",2039,3,"1.0"]
["C4540014","VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2",2039,3,"1.0"]
["C1319466","Barber Say syndrome",2036,3,"0.9991897189515591"]
["C1744559","Congenital ectodermal dysplasia of face",2036,3,"0.9991897189515591"]
["C1860224","ABLEPHARON-MACROSTOMIA SYNDROME",2036,3,"0.9983732340387625"]
["C0796137","3C syndrome",2028,3,"0.6431118632938314"]
["C1863704","Spastic paraplegia 8, autosomal dominant",2028,3,"0.206179699620193"]
["C4225419","RITSCHER-SCHINZEL SYNDROME 2",2028,3,"0.2945519152029828"]
["C0013903","Ellis-Van Creveld Syndrome",2027,3,"0.9419605757976818","Congenital malformations, deformations and chromosomal abnormalities"]
["C0341007","Alveolar ridge abnormality",2027,3,"0.9714367058705354"]
["C0457013","Weyers acrofacial dysostosis",2027,3,"0.9697547395568983"]
["C0040947","Trichostrongyloidiasis",2025,3,"1.0"]
["C3150923","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES",2025,3,"1.0"]
["C4013764","MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES",2025,3,"1.0"]
["C1857587","Orstavik Lindemann Solberg syndrome",2024,3,"1.0"]
["C2931046","Heart defect, tongue hamartoma and polysyndactyly",2024,3,"1.0"]
["C3150127","BARDET-BIEDL SYNDROME 15",2024,3,"1.0"]
["C0268397","Amyloidosis, Primary Cutaneous",2023,3,"0.692295974980399"]
["C0268398","Familial lichen amyloidosis",2023,3,"0.33720423666325156"]
["C3151404","AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2",2023,3,"0.6895241324332145"]
["C1864040","Cerebral Cavernous Malformations 3",2022,3,"0.41657826329889985"]
["C1864041","CEREBRAL CAVERNOUS MALFORMATIONS 2",2022,3,"0.40499955368805524"]
["C2910157","Nonruptured congenital cerebral aneurysm",2022,3,"0.7340487778397404","Congenital malformations, deformations and chromosomal abnormalities"]
["C1842180","CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)",2020,3,"0.6490971967915988"]
["C2675370","Capillary Malformation Without Arteriovenous Malformation",2020,3,"0.6934789346297574"]
["C3280296","Microcephaly-capillary malformation syndrome",2020,3,"0.2606335725477711"]
["C1841679","Hand foot uterus syndrome",2014,3,"0.9991526416879679"]
["C1867801","Preaxial deficiency, postaxial polydactyly and hypospadias",2014,3,"0.9995763003557029"]
["C2921112","Septate uterus, complete or partial",2014,3,"0.9995763003557029"]
["C0271836","X-linked reduction of thyroxine-binding globulin",2010,3,"1.0"]
["C1839141","Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C3711378","Inherited Thyroxine-Binding Globulin Deficiency",2010,3,"1.0"]
["C1858278","Charcot-Marie-Tooth disease, Type 4B2",2003,3,"0.9900765864492556"]
["C1858279","Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma",2003,3,"0.9950263226710001"]
["C1858280","Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma",2003,3,"0.9950263226710001"]
["C1837728","AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)",1988,3,"1.0"]
["C1854058","SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE",1988,3,"1.0"]
["C1866777","Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant",1988,3,"1.0"]
["C0393555","Pure hereditary spastic paraplegia",1987,3,"1.0"]
["C1866855","Spastic paraplegia 4, autosomal dominant",1987,3,"1.0"]
["C3711371","Spastic Paraplegia Type 4",1987,3,"1.0"]
["C1701940","Pneumonia, Ventilator-Associated",1986,3,"0.555053025149717","Diseases of the respiratory system"]
["C1853297","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION",1986,3,"0.2279441694321353"]
["C4274079","Bile acid CoA ligase deficiency and defective amidation",1986,3,"0.22106619772570074"]
["C1867315","Retinal Nonattachment And Falciform Detachment",1980,3,"0.7175213063989154"]
["C1969783","Persistent Hyperplastic Primary Vitreous, Autosomal Recessive",1980,3,"0.7175213063989154"]
["C3151617","ANTERIOR SEGMENT DYSGENESIS 7",1980,3,"0.39625116947742944"]
["C0030508","Parasomnia",1962,3,"1.0","Diseases of the nervous system"]
["C1868570","CHAR SYNDROME",1962,3,"1.0"]
["C4284595","PATENT DUCTUS ARTERIOSUS 2",1962,3,"1.0"]
["C2675185","Kahrizi Syndrome",1948,3,"0.8505774941765676"]
["C3150191","Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities",1948,3,"0.9200101486139004"]
["C4317224","Congenital disorder of glycosylation type 1q",1948,3,"0.7586903336298874"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0007965","Chediak-Higashi Syndrome",1942,3,"0.9988288608060817","Endocrine, nutritional and metabolic diseases"]
["C4025196","Recurrent systemic pyogenic infections",1942,3,"0.999416310286182"]
["C4304022","Attenuated ChÃ©diak-Higashi syndrome",1942,3,"0.999416310286182"]
["C1843791","CARDIOMYOPATHY, DILATED, 1N",1941,3,"1.0"]
["C1866008","Muscular Dystrophy, Limb-Girdle, Type 2G",1941,3,"1.0"]
["C4225408","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25",1941,3,"1.0"]
["C1838299","Peroxisome Biogenesis Disorder, Complementation Group 14",1936,3,"1.0"]
["C1838300","Peroxisome Biogenesis Disorder, Complementation Group J",1936,3,"1.0"]
["C3554002","PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)",1936,3,"1.0"]
["C0016788","Fucosidase Deficiency Disease",1935,3,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0268221","Fucosidosis Type I",1935,3,"1.0"]
["C0268222","Fucosidosis Type II",1935,3,"1.0"]
["C0265343","Jarcho-Levin syndrome",1933,3,"0.8964121490662991"]
["C1837549","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2",1933,3,"0.9213910597659157"]
["C1853296","SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3",1933,3,"0.8823924145580664"]
["C0398746","Gluthathione synthetase deficiency",1928,3,"1.0"]
["C0740749","Chronic metabolic acidosis",1928,3,"1.0"]
["C1856399","Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to",1928,3,"1.0"]
["C1841989","Glomerulonephritis sparse hair telangiectases",1927,3,"1.0"]
["C1843004","HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME",1927,3,"1.0"]
["C4317151","Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome",1927,3,"1.0"]
["C0268483","Tyrosinemias",1922,3,"0.8342241565315112","Endocrine, nutritional and metabolic diseases"]
["C0268490","Tyrosinemia, Type I",1922,3,"0.8385035345344841"]
["C1879362","Hypertyrosinemia",1922,3,"0.8588806966598388","Endocrine, nutritional and metabolic diseases"]
["C1864356","ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE",1913,3,"0.9943563839217691"]
["C4014690","EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE",1913,3,"0.9971774483802369"]
["C4225399","SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES",1913,3,"0.9971774483802369"]
["C1857750","DEAFNESS, AUTOSOMAL RECESSIVE 66",1909,3,"0.9924594449072948"]
["C4015542","NEPHRONOPHTHISIS 19",1909,3,"0.9924594449072948"]
["C4479344","SCLEROSING CHOLANGITIS, NEONATAL",1909,3,"0.9849411022011099"]
["C0014761","Erythroblastosis, Fetal",1907,3,"0.9017109955224869","Certain conditions originating in the perinatal period"]
["C0751868","Alcohol Withdrawal-Induced Major Motor Seizure",1907,3,"0.9496134475262524"]
["C0751869","Status Epilepticus, Alcohol Withdrawal-Induced",1907,3,"0.9496134475262524"]
["C0154671","Degenerative brain disorder",1900,3,"0.7837037976127688"]
["C0235946","Cerebral atrophy",1900,3,"0.6108245095183256"]
["C4020860","Supratentorial atrophy",1900,3,"0.7572480642891091"]
["C1848552","Methylmalonic Aciduria and Homocystinuria, CblD Type",1898,3,"1.0"]
["C1848553","Homocystinuria, CblD Type, Variant 1",1898,3,"1.0"]
["C1848554","Methylmalonic Aciduria, CblD Type, Variant 2",1898,3,"1.0"]
["C1853249","SPINOCEREBELLAR ATAXIA 28",1897,3,"1.0"]
["C3280977","SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE",1897,3,"1.0"]
["C4274988","Spinocerebellar ataxia type 28",1897,3,"1.0"]
["C1858477","Epilepsy, Partial, with Variable Foci",1895,3,"0.348071332974478"]
["C4310708","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3",1895,3,"0.19514242380157906"]
["C4310709","EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2",1895,3,"0.19514242380157906"]
["C1836672","Total Hypotrichosis, Mari type",1893,3,"0.9913426027210048"]
["C3148823","WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS",1893,3,"0.9960886677518175"]
["C3148824","WH/HT",1893,3,"0.9960886677518175"]
["C1848435","WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS",1892,3,"0.5827144378236757"]
["C1854310","Hypotrichosis simplex",1892,3,"0.1837819997464611"]
["C3279470","HYPOTRICHOSIS 8",1892,3,"0.6960132188769539"]
["C1366911","Cerebral Cavernous Malformations 1",1890,3,"0.9989230515253277"]
["C1861785","Cavernous Malformations of CNS and Retina",1890,3,"0.9994625329171823"]
["C1861786","Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations",1890,3,"0.9994625329171823"]
["C0477360","Other dystonia",1884,3,"0.9768006488123715","Diseases of the nervous system"]
["C1719382","Acquired torsion dystonia",1884,3,"0.9768006488123715","Diseases of the nervous system"]
["C1869117","Paroxysmal nonkinesigenic dyskinesia",1884,3,"0.9364438626055634"]
["C0001338","Herpetic Acute Necrotizing Encephalitis",1881,3,"0.8495956933717724"]
["C0019385","Herpetic meningoencephalitis",1881,3,"0.9281142004175484"]
["C0276226","Herpes encephalitis",1881,3,"0.9106485268209112","Certain infectious and parasitic diseases"]
["C0520679","Sleep Apnea, Obstructive",1879,3,"0.4485646819539976","Diseases of the nervous system"]
["C0751761","Upper Airway Resistance Sleep Apnea Syndrome",1879,3,"0.7123240917271534"]
["C4225349","MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA",1879,3,"0.7123240917271534"]
["C1698581","Rokitansky Kuster Hauser syndrome",1875,3,"0.8553451422138234"]
["C2675014","Mullerian Aplasia and Hyperandrogenism",1875,3,"0.9277122086306334"]
["C2678492","Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs",1875,3,"0.9277122086306334"]
["C0543697","Mixed cryoglobulinemia",1868,3,"0.42793889561978304","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3542922","IMMUNODEFICIENCY, COMMON VARIABLE, 7",1868,3,"0.012789108690259137"]
["C3554540","LYMPHOPROLIFERATIVE SYNDROME 2",1868,3,"0.2270189344199347"]
["C0020800","Idiopathic Hypercatabolic Hypoproteinemia",1866,3,"0.9532340651889991"]
["C0033680","Protein-Losing Enteropathies",1866,3,"0.8918414272593603"]
["C4538570","COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY",1866,3,"0.9532340651889991"]
["C1862178","Cole Carpenter syndrome",1859,3,"0.6795297671882291"]
["C4225382","COLE-CARPENTER SYNDROME 2",1859,3,"0.31820989922858894"]
["C4317154","COLE-CARPENTER SYNDROME 1",1859,3,"0.2690631429428057"]
["C0152136","Low Tension Glaucoma",1857,3,"0.6895494718443996","Diseases of the eye and adnexa"]
["C0393729","Immersion Related Epilepsy",1857,3,"0.8588056389000274"]
["C1857253","Dicarboxylicaminoaciduria",1857,3,"0.8554129843019541"]
["C3280479","PITT-HOPKINS-LIKE SYNDROME 2",1856,3,"1.0"]
["C3280524","SCHIZOPHRENIA 17",1856,3,"1.0"]
["C3808494","CHROMOSOME 2p16.3 DELETION SYNDROME",1856,3,"1.0"]
["C1970416","XFE Progeroid Syndrome",1853,3,"0.9409721985238393"]
["C3806565","XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME",1853,3,"0.9701802351769376"]
["C3808988","FANCONI ANEMIA, COMPLEMENTATION GROUP Q",1853,3,"0.9701802351769376"]
["C3809811","PARKINSON DISEASE 19A, JUVENILE-ONSET",1848,3,"0.7779017889053547"]
["C4310802","PARKINSON DISEASE 19B, EARLY-ONSET",1848,3,"0.7779017889053547"]
["C4510873","Atypical juvenile parkinsonism",1848,3,"0.0"]
["C0268467","Hyperphenylalaninemia, BH4-Deficient, B",1838,3,"0.6811036880861503"]
["C1851920","Dopa-Responsive Dystonia",1838,3,"0.7381031668122107"]
["C2673535","DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)",1838,3,"0.37246962795044164"]
["C0042345","Varicosity",1837,3,"0.15021081890586396","Diseases of the circulatory system"]
["C1855607","Keutel syndrome",1837,3,"-0.07297072337834988"]
["C3810170","DEAFNESS, AUTOSOMAL DOMINANT 56",1837,3,"0.03571767562373238"]
["C0005395","Bile Duct Diseases",1826,3,"0.7410174652844066"]
["C0162568","Erythropoietic Protoporphyria",1826,3,"0.878889363072825","Endocrine, nutritional and metabolic diseases"]
["C0349426","Ferrochelatase deficiency",1826,3,"0.7885328909903478"]
["C0023092","Lassa Fever",1825,3,"1.0","Certain infectious and parasitic diseases"]
["C3151184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9",1825,3,"1.0"]
["C4225291","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9",1825,3,"1.0"]
["C1858386","Leber Congenital Amaurosis 4",1821,3,"1.0"]
["C2751763","Retinitis Pigmentosa, Juvenile, Aipl1-Related",1821,3,"1.0"]
["C2751764","CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder)",1821,3,"1.0"]
["C0030569","Secondary Parkinson Disease",1815,3,"1.0","Diseases of the nervous system"]
["C0751414","Parkinson Disease, Secondary Vascular",1815,3,"1.0"]
["C0751415","Atherosclerotic Parkinsonism",1815,3,"1.0"]
["C0019050","Hemoglobinuria, Paroxysmal",1806,3,"0.8575029885859068"]
["C0024790","Paroxysmal nocturnal hemoglobinuria",1806,3,"0.5615931863301564","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0086774","Cold paroxysmal hemoglobinuria",1806,3,"0.8560542491747499","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0158962","Hemolytic disease of fetus OR newborn due to RhD isoimmunization",1804,3,"0.8028804708317344","Certain conditions originating in the perinatal period"]
["C1263988","Hemolytic disorder",1804,3,"0.4778547659029687"]
["C3698348","Anti-D isoimmunization affecting pregnancy",1804,3,"0.7861702116869942"]
["C0272052","Rh Deficiency Syndrome",1803,3,"0.7511318301054977"]
["C1849387","Rh-Null, Regulator Type",1803,3,"0.8359234306347942"]
["C1861455","STOMATOCYTOSIS I",1803,3,"0.7312247144871052"]
["C0032285","Pneumonia",1802,3,"0.8694939766570591"]
["C0032300","Lobar Pneumonia",1802,3,"0.9255647625813682"]
["C3714636","Pneumonitis",1802,3,"0.9325632566281837"]
["C0024282","Lymphocytosis",1801,3,"0.5290694684968326"]
["C0220989","Acquired partial lipodystrophy",1801,3,"0.7680157313359387"]
["C4225289","EPILEPSY, PROGRESSIVE MYOCLONIC, 9",1801,3,"0.7755009700527273"]
["C0011052","Prelingual Deafness",1791,3,"0.9961874058274449"]
["C0751068","Deafness, Acquired",1791,3,"0.9979002290121579"]
["C4082305","Deaf Mutism",1791,3,"0.9982683810174889"]
["C1866340","Peroxisome Biogenesis Disorder, Complementation Group 3",1790,3,"1.0"]
["C3550693","PEROXISOME BIOGENESIS DISORDER 3B",1790,3,"1.0"]
["C3553929","PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)",1790,3,"1.0"]
["C0268228","Neuraminidase 1 deficiency",1784,3,"0.9785177447089447"]
["C3888317","Sialidosis, type 2",1784,3,"0.9893103261466517"]
["C4282398","Sialidase deficiency",1784,3,"0.9893103261466517"]
["C0023806","Lipomucopolysaccharidosis",1783,3,"0.6854178918447382"]
["C0026697","Mucolipidoses",1783,3,"0.7257594448608502"]
["C0268226","Type I Mucolipidosis",1783,3,"0.1814672886583548","Endocrine, nutritional and metabolic diseases"]
["C2673375","Mucolipidosis III Alpha Beta, Atypical",1780,3,"1.0"]
["C2673377","MUCOLIPIDOSIS II ALPHA/BETA (disorder)",1780,3,"1.0"]
["C2931894","Mucolipidosis 2",1780,3,"1.0"]
["C1857144","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1",1779,3,"0.39096744761216035"]
["C3151441","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",1779,3,"0.2588869415408644"]
["C3502105","Dyskeratosis Congenita, Autosomal Recessive",1779,3,"0.6862431523601873"]
["C0002986","Fabry Disease",1775,3,"0.9665050863877458","Endocrine, nutritional and metabolic diseases"]
["C1706559","Cornea verticillata",1775,3,"0.9732926826845234"]
["C1970820","Fabry Disease, Cardiac Variant",1775,3,"0.9752038951648344"]
["C0949855","Electron Transport Chain Deficiencies, Mitochondrial",1774,3,"0.9996297667474157"]
["C0949856","Oxidative Phosphorylation Deficiencies",1774,3,"0.9994447643342457"]
["C0949857","Mitochondrial Respiratory Chain Deficiencies",1774,3,"0.9994447643342457"]
["C0175683","Citrullinemia",1768,3,"0.9920894396904761","Endocrine, nutritional and metabolic diseases"]
["C0751750","Argininosuccinic Acid Synthetase Deficiency Disease, Partial",1768,3,"0.9960375663174867"]
["C0751751","Argininosuccinic Acid Synthetase Deficiency, Complete",1768,3,"0.9960375663174867"]
["C0034960","Refsum Disease",1751,3,"0.7937163547387684","Diseases of the nervous system"]
["C1720802","Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency",1751,3,"0.4676595173109147"]
["C2749345","Refsum Disease, Adult, 1",1751,3,"0.7553596182469583"]
["C2750247","Polymicrogyria, Asymmetric",1750,3,"1.0"]
["C3552236","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7",1750,3,"1.0"]
["C4024960","Unilateral polymicrogyria",1750,3,"1.0"]
["C0017178","Gastrointestinal Diseases",1742,3,"0.9969676479693609"]
["C0559031","Functional Gastrointestinal Disorders",1742,3,"0.9984558439313651"]
["C1565321","Cholera Infantum",1742,3,"0.998489064790591"]
["C0263417","Cutis verticis gyrata",1739,3,"0.9999999999999748"]
["C2674695","Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant",1739,3,"0.9999999999999748"]
["C4072877","Scalp folds",1739,3,"0.9999999999999748"]
["C0003175","Anthrax disease",1736,3,"0.6264321207454795","Certain infectious and parasitic diseases"]
["C0017567","Gingival Hypertrophy",1736,3,"0.35725477632624814"]
["C2745948","Hyalinosis, Systemic",1736,3,"0.6425412978554959"]
["C1832841","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1",1730,3,"0.5501669211630772"]
["C1842852","EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2",1730,3,"0.205518699249844"]
["C3809374","EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5",1730,3,"0.22496788737224574"]
["C1842870","Chromosome 1p36 Deletion Syndrome",1726,3,"0.17470545136798674"]
["C3809288","LEFT VENTRICULAR NONCOMPACTION 8",1726,3,"0.5689775839107454"]
["C3809289","CARDIOMYOPATHY, DILATED, 1LL",1726,3,"0.5689775839107454"]
["C0342800","Inosine Triphosphatase Deficiency",1723,3,"1.0"]
["C1336820","Treatment-Induced Anemia",1723,3,"1.0"]
["C4225256","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35",1723,3,"1.0"]
["C1858391","ATAXIA-TELANGIECTASIA-LIKE DISORDER",1712,3,"0.6108712269178777"]
["C2751318","Nijmegen Breakage Syndrome-Like Disorder",1712,3,"0.38001691152257056"]
["C4012790","Ataxia-Telangiectasisa-Like Disorder 1",1712,3,"0.6228357668453862"]
["C0268119","Combined molybdoflavoprotein enzyme deficiency",1707,3,"0.9590422503644357"]
["C1291266","Deficiency of aldehyde oxidase",1707,3,"0.9804894260217336"]
["C1854988","Molybdenum Cofactor Deficiency, Complementation Group A",1707,3,"0.9804894260217336"]
["C0152095","Patau syndrome",1705,3,"0.2203001974212214","Congenital malformations, deformations and chromosomal abnormalities"]
["C1832388","Platelet Disorder, Familial, with Associated Myeloid Malignancy",1705,3,"0.3306694029733978"]
["C3896960","Childhood Pre-B Acute Lymphoblastic Leukemia",1705,3,"-0.027256490904037218"]
["C1854776","Infantile cardiomyopathy",1703,3,"0.979530290173549"]
["C3279793","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8",1703,3,"0.958339283945338"]
["C4014588","LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE",1703,3,"0.979530290173549"]
["C0033046","Premenstrual syndrome",1702,3,"0.966480153099697"]
["C1853490","22q13.3 Deletion Syndrome",1702,3,"0.9018752926029319"]
["C1868117","POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA",1702,3,"0.966480153099697"]
["C1299884","Eosinophilic myositis (disorder)",1701,3,"0.9992510185641242"]
["C1869123","Limb-girdle muscular dystrophy type 2A",1701,3,"0.9985026357363739"]
["C4275181","Autosomal recessive limb girdle muscular dystrophy type 2A",1701,3,"0.9992510185641242"]
["C0023521","Globoid cell leukodystrophy",1698,3,"0.96213734111087","Endocrine, nutritional and metabolic diseases"]
["C0268252","Late-Onset Globoid Cell Leukodystrophy",1698,3,"0.9107223773270701"]
["C0751273","Infantile Globoid Cell Leukodystrophy",1698,3,"0.8755606637746739"]
["C1857079","Atretic auditory canal",1696,3,"0.024189804135687224"]
["C1868684","EAR, PATELLA, SHORT STATURE SYNDROME",1696,3,"0.3785708148741779"]
["C1969653","MUNGAN SYNDROME",1696,3,"0.27501005050937577"]
["C0027743","Nerve compression syndrome",1688,3,"0.8472684661866572"]
["C1510429","Entrapment Neuropathies",1688,3,"0.8472684661866572"]
["C4225250","SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE",1688,3,"0.6890086092574034"]
["C1859878","Alopecia-Mental Retardation Syndrome 1",1686,3,"0.28654798923140773"]
["C2931280","Perniola Krajewska Carnevale syndrome",1686,3,"0.6330719985460146"]
["C4015557","AMELOGENESIS IMPERFECTA, TYPE IH",1686,3,"0.09544266829805154"]
["C0024748","alpha-Mannosidosis",1672,3,"1.0"]
["C1257960","Mannosidase Deficiency Diseases",1672,3,"1.0","Endocrine, nutritional and metabolic diseases"]
["C4024919","Spinocerebellar tract disease in lower limbs",1672,3,"1.0"]
["C0271270","Oculovestibuloauditory syndrome",1667,3,"0.6495986646894533","Diseases of the eye and adnexa"]
["C1853761","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1",1667,3,"0.8626613304687285"]
["C1865409","Amyotrophic Lateral Sclerosis 4, Juvenile",1667,3,"0.8740688792831109"]
["C0032339","Rothmund-Thomson syndrome",1665,3,"0.9211150673669438","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265308","Baller-Gerold syndrome",1665,3,"0.9691196681978779"]
["C1849453","Rapadilino syndrome",1665,3,"0.9691196681978779"]
["C0878684","SHORT syndrome",1661,3,"0.9995674733063635"]
["C3554689","AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE",1661,3,"0.9997837179499807"]
["C4014934","IMMUNODEFICIENCY 36",1661,3,"0.9997837179499807"]
["C0026618","Dental Fluorosis, Acquired",1660,3,"0.5243431378048634","Diseases of the digestive system"]
["C1853139","OPTIC ATROPHY 5 (disorder)",1660,3,"0.7353662272519511"]
["C3280660","ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION",1660,3,"0.7324175848311858"]
["C1864399","Peroxisome Biogenesis Disorder, Complementation Group 7",1659,3,"1.0"]
["C3553947","PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)",1659,3,"1.0"]
["C3553948","PEROXISOME BIOGENESIS DISORDER 6B",1659,3,"1.0"]
["C4539714","MECKEL SYNDROME 13",1656,3,"1.0"]
["C4539715","JOUBERT SYNDROME 29",1656,3,"1.0"]
["C4539729","OROFACIODIGITAL SYNDROME XVI",1656,3,"1.0"]
["C0033141","Cardiomyopathies, Primary",1651,3,"0.9490350504622265"]
["C0036529","Myocardial Diseases, Secondary",1651,3,"0.9490478822467757"]
["C0878544","Cardiomyopathies",1651,3,"0.8935952248165085","Diseases of the circulatory system"]
["C1855369","Maple Syrup Urine Disease, Type IA",1648,3,"0.8149930866466982"]
["C1855371","MAPLE SYRUP URINE DISEASE, TYPE II",1648,3,"0.8062139137473231"]
["C2930990","Maple syrup urine disease, type 1B",1648,3,"0.8969435747855108"]
["C0005944","Metabolic Bone Disorder",1642,3,"0.18187891681780818"]
["C0029453","Osteopenia",1642,3,"0.6323442568695623"]
["C0747078","Generalized osteopenia",1642,3,"0.09313533783521795"]
["C0268136","Xeroderma pigmentosum, group B",1640,3,"1.0"]
["C1970808","Xeroderma Pigmentosum B-Cockayne Syndrome",1640,3,"1.0"]
["C4225344","TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE",1640,3,"1.0"]
["C0016952","Galactosemias",1635,3,"0.7145367664607332","Endocrine, nutritional and metabolic diseases"]
["C0268151","Classical galactosemia",1635,3,"0.04808859508324324"]
["C0751161","UDPglucose 4-epimerase deficiency disease",1635,3,"0.7445346267594776"]
["C0021345","Infectious Mononucleosis",1625,3,"0.5456770780126197","Certain infectious and parasitic diseases"]
["C0451697","Immunodeficiency following hereditary defective response to Epstein-Barr virus",1625,3,"0.7507871873692012","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1264624","Fatal infectious mononucleosis",1625,3,"0.7507871873692012"]
["C0795842","chromosome 11q duplication syndrome",1615,3,"0.994706033041004"]
["C3150803","NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.9887721518740699"]
["C4016301","NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA",1615,3,"0.994706033041004"]
["C1856796","Estren-Dameshek Variant of Fanconi Anemia",1605,3,"0.8696407767688511"]
["C1856797","Estren-Dameshek Variant of Fanconi Pancytopenia",1605,3,"0.8696407767688511"]
["C3469521","FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",1605,3,"0.5636886029201941"]
["C0015625","Fanconi Anemia",1604,3,"0.7463514272527041","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272027","Pyridoxine-responsive sideroblastic anemia",1604,3,"0.7589362110647558"]
["C1861028","Esophageal atresia with or without tracheoesophageal fistula",1604,3,"0.6551171050794036"]
["C0029106","Opisthorchiasis",1601,3,"1.0","Certain infectious and parasitic diseases"]
["C0277004","Opisthorchis felineus Infection",1601,3,"1.0"]
["C0277005","Opisthorchis viverrini Infection",1601,3,"1.0"]
["C0002892","Anemia, Pernicious",1600,3,"0.4599340101776394","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0342701","Transcobalamin II deficiency",1600,3,"0.12675202265221647","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1394891","Intrinsic Factor Deficiency",1600,3,"0.33051595365745856"]
["C0002888","Anemia, Megaloblastic",1599,3,"0.3113814700916742","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0016412","Folic Acid Deficiency",1599,3,"0.5937557280258959","Endocrine, nutritional and metabolic diseases"]
["C3151205","Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency",1599,3,"0.7022937679332074"]
["C0752107","Brain Diseases, Metabolic, Inherited",1598,3,"1.0"]
["C0752109","Brain Diseases, Metabolic, Inborn",1598,3,"1.0"]
["C0752110","Central Nervous System Inborn Metabolic Diseases",1598,3,"1.0"]
["C1837148","MYOPIA 6 (disorder)",1597,3,"0.606976978666884"]
["C1858424","Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency",1597,3,"0.43572645201944343"]
["C2931111","Myopia, susceptibility to",1597,3,"0.606976978666884"]
["C0040997","Trigeminal Neuralgia",1595,3,"0.9888817938803474","Diseases of the nervous system"]
["C0393786","Trigeminal Neuralgia, Idiopathic",1595,3,"0.9944231399766784"]
["C0393787","Secondary Trigeminal Neuralgia",1595,3,"0.9944231399766784"]
["C1955741","Glucocorticoid deficiency",1593,3,"0.14891614791697927"]
["C4049650","Familial Glucocorticoid Deficiency Type 1",1593,3,"0.5446581779670764"]
["C4049714","Familial Glucocorticoid Deficiency Type 2",1593,3,"0.25484786257589775"]
["C1291611","Deficiency of glucose-6-phosphate isomerase",1592,3,"1.0"]
["C3150730","HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY",1592,3,"1.0"]
["C4025184","Spontaneous hemolytic crises",1592,3,"1.0"]
["C0395837","Stenosis of external auditory canal",1591,3,"0.1918902462414706"]
["C0796117","Pitt-Rogers-Danks Syndrome",1591,3,"0.5489463610066461"]
["C1956097","Wolf-Hirschhorn Syndrome",1591,3,"0.5806709883240742","Congenital malformations, deformations and chromosomal abnormalities"]
["C0036690","Septicemia",1590,3,"0.9509921932341228","Certain infectious and parasitic diseases"]
["C0243026","Sepsis",1590,3,"0.957037617548331"]
["C1719672","Severe Sepsis",1590,3,"0.936503914118135","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0271801","Central hypothyroidism",1587,3,"0.656909284363833"]
["C3665349","Secondary hypothyroidism",1587,3,"0.4776444962293874"]
["C4316995","Primary Hypothyroidism",1587,3,"0.5898037728754693"]
["C0795949","Galloway Mowat syndrome",1585,3,"0.47603458050508224"]
["C1847114","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5",1585,3,"0.3074657947882162"]
["C3489393","Hiatal Hernia",1585,3,"0.23665567378701177"]
["C0477362","Other specified extrapyramidal and movement disorders",1584,3,"0.6653449434725934","Diseases of the nervous system"]
["C3553288","HYPEREKPLEXIA 3",1584,3,"0.21501948255422285"]
["C3553291","HYPEREKPLEXIA 2",1584,3,"0.3040977728098021"]
["C3554398","SPINAL MUSCULAR ATROPHY, JOKELA TYPE",1581,3,"1.0"]
["C4014648","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2",1581,3,"1.0"]
["C4015513","MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT",1581,3,"1.0"]
["C1861689","KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT",1578,3,"1.0"]
["C2751307","MICROPHTHALMIA, ISOLATED 4 (disorder)",1578,3,"1.0"]
["C3715164","LEBER CONGENITAL AMAUROSIS 17",1578,3,"1.0"]
["C3150967","KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT",1577,3,"0.9039202345277295"]
["C3150968","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6",1577,3,"0.6228390306071097"]
["C3150969","MICROPHTHALMIA, ISOLATED 7",1577,3,"0.9039202345277295"]
["C1864720","MICROPHTHALMIA, ISOLATED 2",1574,3,"1.0"]
["C1864721","Microphthalmia, Isolated, with Coloboma 3",1574,3,"1.0"]
["C1864722","Microphthalmia, Cataracts, and Iris Abnormalities",1574,3,"1.0"]
["C0042166","Uveitis, Intermediate",1563,3,"0.9997094103776997"]
["C1853392","Interleukin 2 Receptor, Alpha, Deficiency of",1563,3,"0.9994186046050487"]
["C1866040","DIABETES MELLITUS, INSULIN-DEPENDENT, 10",1563,3,"0.9997094103776997"]
["C1855052","MICROPHTHALMIA, ISOLATED 1",1555,3,"0.07974832533975187"]
["C1859773","Microphthalmia, Syndromic 3",1555,3,"0.5302198417655027"]
["C1859774","Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System",1555,3,"0.5553957842626456"]
["C0032897","Prader-Willi Syndrome",1554,3,"0.5592938427842288","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265222","Royer Syndrome",1554,3,"0.6059996057966356"]
["C3714796","Isolated somatotropin deficiency",1554,3,"0.18638434106399826"]
["C1832409","Crisponi syndrome",1552,3,"0.8766976926813026"]
["C1848947","COLD-INDUCED SWEATING SYNDROME 1",1552,3,"0.8233645140354342"]
["C1853198","COLD-INDUCED SWEATING SYNDROME 2",1552,3,"0.7767465508028559"]
["C0032197","Platelet Storage Pool Deficiency",1549,3,"0.33774002271700443"]
["C0079504","Hermanski-Pudlak Syndrome",1549,3,"0.2026826575597006","Endocrine, nutritional and metabolic diseases"]
["C2931875","Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells",1549,3,"0.049457807815534896"]
["C1969032","Cataract, Autosomal Dominant, Multiple Types 1",1544,3,"0.9818921622111928"]
["C3808115","CATARACT 12, MULTIPLE TYPES",1544,3,"0.9640131352322965"]
["C4021566","Progressive cataract",1544,3,"0.9818921622111928"]
["C0858617","Posterior subcapsular cataract",1540,3,"0.052711213386187644"]
["C1112768","Anterior subcapsular cataract",1540,3,"0.7180967726171851"]
["C1854311","Cataract, posterior polar, 3",1540,3,"0.7180967726171851"]
["C1833118","Cataract, Pulverulent",1537,3,"0.5955722083023868"]
["C1852438","CATARACT, COPPOCK-LIKE",1537,3,"0.5723004159825456"]
["C1861829","Cataract microcornea syndrome",1537,3,"0.3577739220403943"]
["C1859317","Cataract and cardiomyopathy",1532,3,"0.7470295827195257"]
["C3553494","CATARACT 38",1532,3,"0.9172248741417512"]
["C4025277","Exercise-induced lactic acidemia",1532,3,"0.9172248741417512"]
["C0432255","Geroderma osteodysplastica",1525,3,"0.23949658208683625"]
["C2751987","Cutis Laxa, Autosomal Recessive, Type IIB",1525,3,"0.5999322726036108"]
["C3280799","CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB",1525,3,"0.6022810193401438"]
["C0023212","Left-Sided Heart Failure",1524,3,"0.9410950331781256","Diseases of the circulatory system"]
["C0235527","Heart Failure, Right-Sided",1524,3,"0.9671676281065485","Diseases of the circulatory system"]
["C1959583","Myocardial Failure",1524,3,"0.9684803067912073"]
["C3810127","IMMUNODEFICIENCY 18",1522,3,"1.0"]
["C3810128","IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT",1522,3,"1.0"]
["C3810129","IMMUNODEFICIENCY 18, SCID VARIANT",1522,3,"1.0"]
["C0016063","Osteitis Fibrosa Disseminata",1510,3,"0.4283835395680186"]
["C0524582","Mulibrey Nanism",1510,3,"0.8203143464369321"]
["C2931895","Pericardial constriction with growth failure",1510,3,"0.8203143464369321"]
["C4024867","Perifollicular hyperkeratosis",1509,3,"0.3855165440601735"]
["C4273658","Graham Little Piccardi Lassueur syndrome",1509,3,"0.12256466013168467"]
["C4540331","ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5",1509,3,"0.14363459670153464"]
["C0019357","Keratitis, Herpetic",1504,3,"0.8543140063370543"]
["C0024441","Macular Holes",1504,3,"0.8543140063370543"]
["C1853959","Birdshot chorioretinopathy",1504,3,"0.7584042522847354"]
["C0019100","Severe Dengue",1496,3,"0.7285070510157791","Certain infectious and parasitic diseases"]
["C0376300","Dengue Shock Syndrome",1496,3,"0.7320328876670107"]
["C1853124","NEPHROTIC SYNDROME, TYPE 3",1496,3,"0.1614881345851988"]
["C0009447","Common Variable Immunodeficiency",1489,3,"0.8050564431092794","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2936664","Acquired Hypogammaglobulinemia",1489,3,"0.9098670297563175"]
["C2936665","Immunoglobulin Deficiency, Late-Onset",1489,3,"0.9018156343602505"]
["C0242584","Autoimmune thrombocytopenia",1488,3,"0.5629832932508655"]
["C0398650","Immune thrombocytopenic purpura",1488,3,"0.39547689433710037","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0920163","Idiopathic thrombocytopenia",1488,3,"0.5502998411972392"]
["C1836460","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2",1485,3,"1.0"]
["C3809443","MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE",1485,3,"1.0"]
["C4310676","MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT",1485,3,"1.0"]
["C0008312","Primary biliary cirrhosis",1480,3,"0.720194626981639","Diseases of the digestive system"]
["C0023892","Biliary cirrhosis",1480,3,"0.825384502803407","Diseases of the digestive system"]
["C0238065","Biliary Cirrhosis, Secondary",1480,3,"0.7621702456876895","Diseases of the digestive system"]
["C0040261","Onychomycosis",1479,3,"0.4264005188942543","Certain infectious and parasitic diseases"]
["C0268307","Conjugated hyperbilirubinemia",1479,3,"0.3211554123848656"]
["C0343065","Symptomatic dermographism",1479,3,"0.4826111862658677","Diseases of the skin and subcutaneous tissue"]
["C0020433","Hyperbilirubinemia",1478,3,"0.3877236539305781"]
["C0020435","Hyperbilirubinemia, Hereditary",1478,3,"0.30116020784972497"]
["C0022350","Jaundice, Chronic Idiopathic",1478,3,"0.29772135318483883","Endocrine, nutritional and metabolic diseases"]
["C3554656","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5",1467,3,"1.0"]
["C3808802","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4",1467,3,"1.0"]
["C4225346","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3",1467,3,"1.0"]
["C0270715","Degenerative Diseases, Central Nervous System",1465,3,"0.8958738790288657"]
["C0524851","Neurodegenerative Disorders",1465,3,"0.7706493839617259","Diseases of the nervous system"]
["C0751733","Degenerative Diseases, Spinal Cord",1465,3,"0.8958738790288657"]
["C0242383","Age related macular degeneration",1460,3,"0.3508155435707356","Diseases of the eye and adnexa"]
["C1536085","Geographic Atrophy",1460,3,"0.5365313915217961"]
["C2237660","exudative macular degeneration",1460,3,"0.5431116014489481"]
["C2931245","Bone Marrow failure syndromes",1459,3,"0.8681829340857987"]
["C3808553","Bone marrow failure syndrome 1",1459,3,"0.8082675486789305"]
["C3810350","Bone marrow failure syndrome 2",1459,3,"0.8140233132956897"]
["C0272170","Shwachman syndrome",1457,3,"-0.12546326428410967"]
["C0878677","Glycogen Storage Disease Type IIb",1457,3,"0.26797324010386875"]
["C1442837","Myocardial necrosis",1457,3,"0.5199584299255984"]
["C0432289","Winchester syndrome (disorder)",1456,3,"0.9985449668456207"]
["C4024579","Osteolysis involving bones of the feet",1456,3,"0.9992725542487335"]
["C4082974","Dupuytren\\'s Disease",1456,3,"0.9992725542487335"]
["C1865285","Megalencephaly cutis marmorata telangiectatica congenita",1453,3,"0.9593656325906436"]
["C2752042","Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi",1453,3,"0.9820446258220068"]
["C3554518","COWDEN SYNDROME 5",1453,3,"0.9820446258220068"]
["C0020615","Hypoglycemia",1451,3,"0.4758535666315103","Endocrine, nutritional and metabolic diseases"]
["C0271708","Fasting Hypoglycemia",1451,3,"0.6533421890540463"]
["C0271710","Reactive hypoglycemia",1451,3,"0.6718669964075613"]
["C0162531","Hereditary Coproporphyria",1450,3,"0.9996700891467303","Endocrine, nutritional and metabolic diseases"]
["C0342856","Coproporphyria",1450,3,"0.9991489790478228"]
["C0342859","Harderoporphyria",1450,3,"0.999368418348928"]
["C0031029","Periapical Granuloma",1446,3,"0.49219730693611324"]
["C0034543","Radicular Cyst",1446,3,"0.4921006220863399","Diseases of the digestive system"]
["C0399379","Dentin dysplasia, type 1",1446,3,"0.41222225735648904"]
["C0272302","Gray Platelet Syndrome",1432,3,"0.6161078615912621","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1861194","Thrombasthenia-Thrombocytopenia, Hereditary",1432,3,"0.33231926432156894"]
["C2717750","Platelet alpha-Granule Deficiency",1432,3,"0.7270275742108788"]
["C0456103","Sepsis of the newborn",1425,3,"1.0"]
["C3553597","3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME",1425,3,"1.0"]
["C4040739","3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome",1425,3,"1.0"]
["C0085662","Macrocytosis",1415,3,"0.6898979485566357"]
["C0236970","Alcohol-Induced Disorders",1415,3,"0.816496580927726"]
["C0679414","alcohol flush reaction",1415,3,"0.816496580927726"]
["C0013261","Duane Retraction Syndrome",1410,3,"0.6223681992451383","Diseases of the eye and adnexa"]
["C0751083","Duane Retraction Syndrome, Type 2",1410,3,"0.7393495815627111"]
["C0994516","Type 1 Duane Retraction Syndrome",1410,3,"0.5209915686765104"]
["C0581354","Recurrent sinusitis",1409,3,"0.6221372819029892"]
["C0747085","Recurrent otitis media",1409,3,"0.2681541300721815"]
["C4280333","Recurrent sinus disease",1409,3,"0.6221372819029892"]
["C0008780","Ciliary Motility Disorders",1408,3,"0.4899605458613951"]
["C0022521","Kartagener Syndrome",1408,3,"0.698281086082414"]
["C4317124","Polynesian Bronchiectasis",1408,3,"0.6252205610787225"]
["C0085083","Ovarian Hyperstimulation Syndrome",1407,3,"0.9346811210163981"]
["C0343084","Capillary Leak Syndrome",1407,3,"0.9496117476479664"]
["C3494162","Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous",1407,3,"0.9616207038668191"]
["C0752332","Lupus Vasculitis, Central Nervous System",1405,3,"1.0"]
["C0752334","Lupus Meningoencephalitis",1405,3,"1.0"]
["C0752335","Neuropsychiatric Systemic Lupus Erythematosus",1405,3,"1.0"]
["C0005686","Urinary Bladder Diseases",1401,3,"0.0220356768648347","Diseases of the genitourinary system"]
["C0036323","Schistosomiasis",1401,3,"0.4219447499614753","Certain infectious and parasitic diseases"]
["C1850938","FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY",1401,3,"0.44476091201218726"]
["C0012716","Disorder of magnesium metabolism",1389,3,"0.9722803115394203","Endocrine, nutritional and metabolic diseases"]
["C0268448","Primary hypomagnesemia (disorder)",1389,3,"0.9190796009460118"]
["C3151482","HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING",1389,3,"0.9722803115394203"]
["C0003507","Aortic Valve Stenosis",1388,3,"0.48225750069486184","Congenital malformations, deformations and chromosomal abnormalities"]
["C3542024","AORTIC VALVE DISEASE 2",1388,3,"0.7393921099168455"]
["C4479496","CRANIOSYNOSTOSIS 7",1388,3,"0.7524548660560921"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833","Diseases of the circulatory system"]
["C0010054","Coronary Arteriosclerosis",1381,3,"0.5136120750774833","Diseases of the digestive system"]
["C0010068","Coronary heart disease",1381,3,"0.20571659217144087","Diseases of the circulatory system"]
["C1956346","Coronary Artery Disease",1381,3,"0.5274957649514675"]
["C0149725","Lower respiratory tract infection",1368,3,"0.996090808053672"]
["C0585953","Recurrent chest infections",1368,3,"0.998040995440351"]
["C3163798","Recurrent lower respiratory tract infection",1368,3,"0.998040995440351"]
["C0011847","Diabetes",1364,3,"0.2947049926547248","Endocrine, nutritional and metabolic diseases"]
["C0011849","Diabetes Mellitus",1364,3,"0.33003698049507924","Endocrine, nutritional and metabolic diseases"]
["C0011860","Diabetes Mellitus, Non-Insulin-Dependent",1364,3,"0.26946995442507027","Endocrine, nutritional and metabolic diseases"]
["C1845672","Mental Retardation, X-Linked 63",1362,3,"-0.2082048303008008"]
["C1846242","Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis",1362,3,"0.5050508614959593"]
["C4310810","MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS",1362,3,"0.25231642807326027"]
["C0268528","Hyperprolinemia",1357,3,"0.7784250447678972"]
["C0268529","Proline dehydrogenase deficiency",1357,3,"0.8890025575602069"]
["C1833247","SCHIZOPHRENIA 4 (disorder)",1357,3,"0.8890025575602069"]
["C0028860","Oculocerebrorenal Syndrome",1347,3,"0.9821422087200115","Endocrine, nutritional and metabolic diseases"]
["C1845167","Dent Disease 2",1347,3,"0.9518322932145092"]
["C2713392","Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency",1347,3,"0.9786531334264271"]
["C0001768","Agammaglobulinemia",1328,3,"0.6550830757773196"]
["C0086438","Hypogammaglobulinemia",1328,3,"0.4859311509433183","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1832241","Agammaglobulinemia, non-Bruton type",1328,3,"0.4786699900084678"]
["C0003850","Arteriosclerosis",1322,3,"0.1460645896653591","Diseases of the circulatory system"]
["C0004153","Atherosclerosis",1322,3,"0.22350184808457763","Diseases of the circulatory system"]
["C0007222","Cardiovascular Diseases",1322,3,"0.08251658952238015"]
["C2613439","Extramedullary Hematopoiesis (disorder)",1320,3,"0.06046716607367982"]
["C2931351","Familial myelofibrosis",1320,3,"0.7180248799368277"]
["C3809031","NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE",1320,3,"0.5987370900416766"]
["C0015695","Fatty Liver",1316,3,"0.5990749101810389"]
["C0015696","Fatty Liver, Alcoholic",1316,3,"0.22455793621772807","Diseases of the digestive system"]
["C2711227","Steatohepatitis",1316,3,"0.38953306175171104"]
["C3151185","SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY",1312,3,"0.9914935111076358"]
["C3151186","NEPHRONOPHTHISIS 12",1312,3,"0.9830032650755726"]
["C3279203","JOUBERT SYNDROME 11",1312,3,"0.9914935111076358"]
["C2750063","Leber Congenital Amaurosis 14",1310,3,"1.0"]
["C2750064","Retinal Dystrophy, Early-Onset Severe, Lrat-Related",1310,3,"1.0"]
["C2750065","RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED",1310,3,"1.0"]
["C0339730","Blindness, Acquired",1301,3,"1.0"]
["C0376288","Amaurosis",1301,3,"1.0"]
["C0750958","Blindness, Monocular",1301,3,"1.0"]
["C1836032","Immunoglobulin a deficiency 2",1298,3,"0.6181049441109089"]
["C3150354","IMMUNODEFICIENCY, COMMON VARIABLE, 2",1298,3,"0.6181049441109089"]
["C4082764","Gastrointestinal infection",1298,3,"0.07921010028571897"]
["C0268141","Xeroderma pigmentosum, group G",1296,3,"0.9878692763594189"]
["C1851443","Cerebrooculofacioskeletal Syndrome 3",1296,3,"0.9874578642407207"]
["C1968561","Xeroderma Pigmentosum, Type G-Cockayne Syndrome",1296,3,"0.9946736370421613"]
["C0265201","De Sanctis-Cacchione syndrome",1289,3,"1.0"]
["C3151063","MACULAR DEGENERATION, AGE-RELATED, 5",1289,3,"1.0"]
["C4310783","PREMATURE OVARIAN FAILURE 11",1289,3,"1.0"]
["C0393697","Epilepsy with grand mal seizures on awakening (disorder)",1288,3,"1.0","Diseases of the nervous system"]
["C1854107","Hyperaldosteronism, Familial, Type II",1288,3,"1.0"]
["C3810242","LEUKOENCEPHALOPATHY WITH ATAXIA",1288,3,"1.0"]
["C0796089","LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE",1287,3,"1.0"]
["C4225327","EPILEPSY, FAMILIAL TEMPORAL LOBE, 7",1287,3,"1.0"]
["C4274995","Lissencephaly with cerebellar hypoplasia",1287,3,"1.0"]
["C0155568","Rheumatic aortic regurgitation",1275,3,"0.8568797603793529","Diseases of the circulatory system"]
["C0263009","Sclerosis of the skin",1275,3,"0.6239397720381178"]
["C0264774","Mitral and aortic incompetence",1275,3,"0.8568797603793529"]
["C1861862","Familial Hypertrophic Cardiomyopathy Type 4",1271,3,"0.9916054432661721"]
["C3715165","LEFT VENTRICULAR NONCOMPACTION 10",1271,3,"0.9957930780562956"]
["C3809346","CARDIOMYOPATHY, DILATED, 1MM",1271,3,"0.9957930780562956"]
["C0271902","Microcytic normochromic anemia",1270,3,"0.7826772402854394"]
["C1839832","Noncompaction cardiomyopathy",1270,3,"0.12856312160168254"]
["C1857776","3-@METHYLGLUTACONIC ACIDURIA, TYPE V",1270,3,"0.7826772402854394"]
["C0265227","Schinzel-Giedion syndrome",1266,3,"0.7780821530583171"]
["C3714602","Staphylococcal toxic shock syndrome",1266,3,"0.2689950293512008"]
["C4015141","MENTAL RETARDATION, AUTOSOMAL DOMINANT 29",1266,3,"0.7780821530583171"]
["C2674249","Anemia, Sideroblastic, Autosomal Dominant",1262,3,"1.0"]
["C4225180","EVEN-PLUS SYNDROME",1262,3,"1.0"]
["C4225428","ANEMIA, SIDEROBLASTIC, 4",1262,3,"1.0"]
["C2673914","Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive",1260,3,"0.677213894756849"]
["C4225155","ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY",1260,3,"0.9095043682710268"]
["C4225178","SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA",1260,3,"0.9095043682710268"]
["C0030293","Pancreatic Insufficiency",1257,3,"0.002670792483117292"]
["C0267963","Exocrine pancreatic insufficiency",1257,3,"0.5081381914199979","Diseases of the digestive system"]
["C0554119","Pancreatic malabsorption",1257,3,"0.2519420493453454"]
["C0042880","Vitamin K Deficiency",1256,3,"0.6852327889686017","Endocrine, nutritional and metabolic diseases"]
["C1843139","Hypercholanemia, Familial",1256,3,"0.7316887896971227"]
["C2931067","Cholestasis, progressive familial intrahepatic 4",1256,3,"0.4035430775982978"]
["C0010278","Craniosynostosis",1252,3,"0.47354207675404475","Congenital malformations, deformations and chromosomal abnormalities"]
["C1833340","Synostotic Posterior Plagiocephaly",1252,3,"0.6451111055533792"]
["C2931150","Synostotic Anterior Plagiocephaly",1252,3,"0.6710156439859798"]
["C1833736","Osteogenesis imperfecta, Levin type",1248,3,"1.0"]
["C1969785","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder)",1248,3,"1.0"]
["C2750076","Miyoshi Muscular Dystrophy 3",1248,3,"1.0"]
["C1969106","Osteopetrosis, Autosomal Recessive 4",1244,3,"0.5252547295447586"]
["C3179239","Osteopetrosis Autosomal Dominant Type 2",1244,3,"0.7759970358718379"]
["C3645711","Congenital Osteopetrosis",1244,3,"0.187607563636263"]
["C0431399","Familial aplasia of the vermis",1238,3,"0.3350474968435567"]
["C3489733","Oculomotor apraxia",1238,3,"0.19637521253581525"]
["C4274118","Joubert syndrome with ocular defect",1238,3,"-0.04647399350109089"]
["C1851479","Keratoderma palmoplantaris transgrediens",1236,3,"1.0"]
["C2675236","Deafness, Autosomal Dominant 2B",1236,3,"1.0"]
["C4509933","Peripheral neuropathy with sensorineural hearing impairment syndrome",1236,3,"1.0"]
["C2673873","BARDET-BIEDL SYNDROME 13",1228,3,"0.9820205015404687"]
["C3714506","Meckel syndrome type 1",1228,3,"0.9593267783339444"]
["C4310705","JOUBERT SYNDROME 28",1228,3,"0.9820205015404687"]
["C2676788","JOUBERT SYNDROME 9 (disorder)",1227,3,"0.9719141353151248"]
["C2676790","MECKEL SYNDROME, TYPE 6 (disorder)",1227,3,"0.9719141353151248"]
["C3280898","JOUBERT SYNDROME 9/15, DIGENIC",1227,3,"0.9452684881936295"]
["C1846357","Meckel syndrome type 3",1223,3,"1.0"]
["C1853153","JOUBERT SYNDROME 6",1223,3,"1.0"]
["C3150796","NEPHRONOPHTHISIS 11",1223,3,"1.0"]
["C0155912","Pulmonary Alveolar Microlithiasis",1217,3,"0.9326393815035203","Diseases of the respiratory system"]
["C1864873","Testicular Microlithiasis",1217,3,"0.9161755205926587"]
["C3263719","Primary acquired melanosis",1217,3,"0.7860073215602715"]
["C0034139","Purine-Pyrimidine Metabolism, Inborn Errors",1204,3,"0.9948528701877237","Endocrine, nutritional and metabolic diseases"]
["C1959620","Dihydropyrimidine Dehydrogenase Deficiency",1204,3,"0.9878646375518602"]
["C4304578","1p21.3 microdeletion syndrome",1204,3,"0.9948528701877237"]
["C1848526","Pontocerebellar Hypoplasia Type 2A",1201,3,"1.0"]
["C1856974","PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)",1201,3,"1.0"]
["C1857762","Olivopontocerebellar hypoplasia, fetal-onset",1201,3,"1.0"]
["C0267071","Oropharyngeal Dysphagia",1199,3,"0.48980345077928356","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0267072","Esophageal Dysphagia",1199,3,"0.49729080630121153"]
["C2932714","Pontocerebellar Hypoplasia Type 2",1199,3,"0.2376978306603231"]
["C0085215","Ovarian Failure, Premature",1195,3,"0.820083458484677","Endocrine, nutritional and metabolic diseases"]
["C0086367","Gonadotropin-Resistant Ovary Syndrome",1195,3,"0.9067277833714096","Endocrine, nutritional and metabolic diseases"]
["C3494522","Hypergonadotropic Ovarian Failure, X-Linked",1195,3,"0.8832835906197413"]
["C1856186","Deafness enamel hypoplasia nail defects",1185,3,"0.6288658466344144"]
["C1865803","Peroxisome Biogenesis Disorder, Complementation Group 1",1185,3,"0.8349919383499697"]
["C1865804","Peroxisome Biogenesis Disorder, Complementation Group E",1185,3,"0.8349919383499697"]
["C3151055","ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE",1182,3,"0.9993123421193053"]
["C3502131","Adrenal Insufficiency, Congenital",1182,3,"0.9996563911001033"]
["C3502132","Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal",1182,3,"0.9996563911001033"]
["C0018054","Gonadal Dysgenesis, 46,XY",1177,3,"0.5407772285327186"]
["C0432475","XX males",1177,3,"0.2239661574993518"]
["C2936694","Swyer Syndrome",1177,3,"0.5628500957661687"]
["C2931347","Cardiac form of generalized glycogenosis",1172,3,"1.0"]
["C3888924","Glycogen storage disease due to acid maltase deficiency, infantile onset",1172,3,"1.0"]
["C3888925","Pompe\\'s disease adult onset",1172,3,"1.0"]
["C0017921","Glycogen storage disease type II",1171,3,"0.12514469951433416","Endocrine, nutritional and metabolic diseases"]
["C0342751","Generalized glycogen storage disease of infants",1171,3,"-0.19881730059752264","Endocrine, nutritional and metabolic diseases"]
["C0751173","Glycogen Storage Disease Type II, Infantile",1171,3,"0.3443107080447208"]
["C1832243","CARDIOMYOPATHY, DILATED, 1D (disorder)",1169,3,"1.0"]
["C1861864","Cardiomyopathy, Familial Hypertrophic, 2",1169,3,"1.0"]
["C2676271","CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)",1169,3,"1.0"]
["C0032027","Pityriasis Rubra Pilaris",1168,3,"0.9995933153685531","Diseases of the skin and subcutaneous tissue"]
["C1304140","Familial psoriasis",1168,3,"0.9997966453559083"]
["C1864497","PSORIASIS 2",1168,3,"0.9997966453559083"]
["C0020501","Primary Hyperoxaluria",1167,3,"0.5269659889537024","Endocrine, nutritional and metabolic diseases"]
["C0268165","Primary hyperoxaluria type 2",1167,3,"0.16872734205213574"]
["C3150878","Primary hyperoxaluria type III",1167,3,"0.1928239305863619"]
["C0268621","Hepatic methionine adenosyltransferase deficiency",1163,3,"0.5915601943124973"]
["C3151058","S-adenosylhomocysteine hydrolase deficiency",1163,3,"0.5574069566356167"]
["C4048705","Hypermethioninemia",1163,3,"0.5910664988643939","Endocrine, nutritional and metabolic diseases"]
["C0271528","Isosexual precocious puberty",1157,3,"1.0"]
["C3553841","HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA",1157,3,"1.0"]
["C3805879","PRECOCIOUS PUBERTY, CENTRAL, 1",1157,3,"1.0"]
["C0020529","Hypersomnia with Periodic Respiration",1151,3,"0.7747722632169614"]
["C0037315","Sleep Apnea Syndromes",1151,3,"0.6261549326053386","Diseases of the nervous system"]
["C0338495","Sleep Apnea, Mixed Central and Obstructive",1151,3,"0.7747722632169614"]
["C2749861","MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)",1148,3,"1.0"]
["C2751319","Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5",1148,3,"1.0"]
["C3150172","MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)",1148,3,"1.0"]
["C2749862","Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related",1147,3,"0.513921222372273"]
["C3501849","Mngie Without Leukoencephalopathy",1147,3,"0.8595560550091821"]
["C3711125","Mitochondrial DNA Depletion Syndrome 8A",1147,3,"0.8595560550091821"]
["C0872218","MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME",1146,3,"0.8942099611364968"]
["C4476617","Autonomic visceral myopathy",1146,3,"0.9424078499136811"]
["C4476618","Degenerative enteric myopathy",1146,3,"0.9424078499136811"]
["C1836439","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3",1145,3,"0.9991926175330871"]
["C1849096","Infantile onset spinocerebellar ataxia",1145,3,"0.9983866171651629"]
["C4015307","PERRAULT SYNDROME 5",1145,3,"0.9991926175330871"]
["C0085543","Epilepsia Partialis Continua",1144,3,"0.5822663552661869","Diseases of the nervous system"]
["C1834846","Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1",1144,3,"0.20163982172977502"]
["C1843851","Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis",1144,3,"0.5711569172484499"]
["C0175707","Asplenia Syndrome",1135,3,"0.5132530640921176"]
["C3151221","TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3",1135,3,"0.5597699900588633"]
["C3178805","Heterotaxy Syndrome",1135,3,"0.6408180697093148"]
["C1876171","Polyasplenia",1134,3,"1.0"]
["C1876172","VAH, AUTOSOMAL RECESSIVE",1134,3,"1.0"]
["C1876173","Heterotaxy, Visceroatrial, Autosomal Recessive",1134,3,"1.0"]
["C0280028","Refractory anemia with excess blasts in transformation (clinical)",1132,3,"0.4271545911142989","Neoplasms"]
["C2981142","Refractory anemia, without ringed sideroblasts, without excess blasts",1132,3,"-0.19870393161390473"]
["C4015323","LEUKODYSTROPHY, HYPOMYELINATING, 9",1132,3,"0.4915720836967764"]
["C0013374","Dysgammaglobulinemia",1130,3,"0.4968267554304996"]
["C0162539","IgG Deficiency disorder",1130,3,"0.42012398855760197","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3279824","Kappa-Chain Deficiency",1130,3,"0.6549700904767264"]
["C0265341","Rieger syndrome",1127,3,"0.7490744468327755","Congenital malformations, deformations and chromosomal abnormalities"]
["C3495488","Axenfeld-Rieger syndrome",1127,3,"0.8425935205777315"]
["C3495489","Rieger eye malformation sequence",1127,3,"0.8584904938658368"]
["C1842031","IRIDOGONIODYSGENESIS, TYPE 2",1126,3,"0.8054257214739324"]
["C1867155","RING DERMOID OF CORNEA",1126,3,"0.8054257214739324"]
["C3714873","Axenfeld-Rieger Syndrome, Type 1",1126,3,"0.2581346658967178"]
["C0268505","Ocular albinism, type II",1123,3,"0.9638620005550408"]
["C1845407","CONE-ROD DYSTROPHY, X-LINKED, 3",1123,3,"0.9638620005550408"]
["C4073107","Incomplete congenital stationary night blindness",1123,3,"0.9261056152559028"]
["C2677713","Ichthyosis, X-Linked, Complicated",1117,3,"0.9556819931915008"]
["C2720163","Placental Steroid Sulfatase Deficiency",1117,3,"0.910042577558345"]
["C4274085","Syndromic recessive X-linked ichthyosis",1117,3,"0.9556819931915008"]
["C1852759","Papillorenal syndrome",1115,3,"1.0"]
["C2608080","RENAL HYPOPLASIA, ISOLATED (disorder)",1115,3,"1.0"]
["C4014925","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7",1115,3,"1.0"]
["C3553989","SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5",1112,3,"0.2772555109619926"]
["C4015635","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T",1112,3,"0.5676995580102657"]
["C4310763","SPINOCEREBELLAR ATAXIA 43",1112,3,"0.10241334539682348"]
["C1836182","Chondrodysplasia, acromesomelic, with genital anomalies",1111,3,"1.0"]
["C4225183","BRACHYDACTYLY, TYPE A1, D",1111,3,"1.0"]
["C4225404","ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE",1111,3,"1.0"]
["C0265260","Chondrodysplasia, Grebe type",1110,3,"0.7445442408389428"]
["C1300268","Brachydactyly syndrome type C",1110,3,"0.8229665189170458"]
["C1856738","Fibular hypoplasia and complex brachydactyly",1110,3,"0.7437432028301189"]
["C1832708","MULTIPLE SYNOSTOSES SYNDROME 2",1109,3,"1.0"]
["C3554446","BRACHYDACTYLY, TYPE A1, C",1109,3,"1.0"]
["C3809104","SYMPHALANGISM, PROXIMAL, 1B",1109,3,"1.0"]
["C0175700","Multiple synostosis syndrome",1107,3,"0.7230158543322864"]
["C0342282","Multiple synostoses syndrome 1",1107,3,"0.801140579713652"]
["C1861385","SYMPHALANGISM, PROXIMAL",1107,3,"0.28870098984799647"]
["C0263746","Osteoarthritis of the hand",1105,3,"0.2822629998150747"]
["C1837481","Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related",1105,3,"0.7595946092487266"]
["C1846843","EPIPHYSEAL DYSPLASIA, MULTIPLE, 5",1105,3,"0.7595946092487266"]
["C0002873","Anemia of chronic disease",1103,3,"0.631678303791508"]
["C0034902","Pure Red-Cell Aplasia",1103,3,"0.8017850725574002"]
["C1865616","HEMOCHROMATOSIS, TYPE 2B",1103,3,"0.8250889217798998"]
["C0149530","Congenital heart block",1102,3,"0.5267841265110135","Congenital malformations, deformations and chromosomal abnormalities"]
["C0151449","Primary SjÃ¶gren\\'s syndrome",1102,3,"0.04651040590251926"]
["C0409979","Neonatal Systemic lupus erythematosus",1102,3,"0.5556277680528193"]
["C0751753","Carbamoyl-Phosphate Synthase I Deficiency Disease",1094,3,"0.9997329000138784"]
["C4082171","Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency",1094,3,"0.9998664458806368"]
["C4085580","Carbamoyl Phosphate Synthase 1 Deficiency",1094,3,"0.9998664458806368"]
["C0026896","Myasthenia Gravis",1092,3,"0.8726782365244581","Diseases of the nervous system"]
["C0751339","Myasthenia Gravis, Generalized",1092,3,"0.9326947292984857"]
["C0751340","Myasthenia Gravis, Ocular",1092,3,"0.9320947023976424"]
["C1843808","CARDIOMYOPATHY, DILATED, 1M",1090,3,"1.0"]
["C2677491","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12",1090,3,"1.0"]
["C4025009","Impaired myocardial contractility",1090,3,"1.0"]
["C0242287","Isaacs syndrome",1084,3,"0.44808919763716776"]
["C0751919","Acquired Neuromyotonia",1084,3,"0.8867161468428226"]
["C2932678","Inherited Peripheral Neuropathy",1084,3,"0.8785976404641749"]
["C1853995","SEIZURES, BENIGN FAMILIAL INFANTILE, 2",1081,3,"0.900833527316034"]
["C1865926","Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)",1081,3,"0.8183280492987548"]
["C1868682","Paroxysmal kinesigenic choreoathetosis",1081,3,"0.8238441842904536"]
["C1832466","CAPOS syndrome",1080,3,"0.8082284694286048"]
["C1868681","DYSTONIA 12",1080,3,"0.8881787002829464"]
["C3553788","ALTERNATING HEMIPLEGIA OF CHILDHOOD 2",1080,3,"0.8891807681023269"]
["C1865322","MIGRAINE, FAMILIAL HEMIPLEGIC, 2",1077,3,"0.9986309928846427"]
["C1865323","Migraine, Familial Basilar",1077,3,"0.9993483083046233"]
["C3549447","ALTERNATING HEMIPLEGIA OF CHILDHOOD 1",1077,3,"0.9993483083046233"]
["C0270860","Basilar-Type Migraine",1076,3,"0.25261010316084404","Diseases of the nervous system"]
["C0270862","Hemiplegic migraine",1076,3,"0.5529862300163528","Diseases of the nervous system"]
["C0338484","Familial Hemiplegic Migraine",1076,3,"0.2339266551635054"]
["C1832560","RIPPLING MUSCLE DISEASE 2 (disorder)",1075,3,"0.8774240219244345"]
["C2678485","LONG QT SYNDROME 9 (disorder)",1075,3,"0.9142951824589022"]
["C3280443","MYOPATHY, DISTAL, TATEYAMA TYPE",1075,3,"0.4566869391734209"]
["C1833382","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder)",1069,3,"0.2932281659088333"]
["C1836780","PANCREATIC AND CEREBELLAR AGENESIS",1069,3,"0.28009777168357836"]
["C1850096","Pancreatic Agenesis, Congenital",1069,3,"0.6717798979190753"]
["C0023213","Ventricular Outflow Obstruction, Left",1064,3,"1.0"]
["C0042512","Ventricular Outflow Obstruction",1064,3,"1.0"]
["C0751864","MPTP-Induced Degeneration of the Striatum",1064,3,"1.0"]
["C0271714","Hypoglycemia, leucine-induced",1062,3,"1.0"]
["C1835887","DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)",1062,3,"1.0"]
["C4274080","Autosomal dominant hyperinsulinism due to SUR1 deficiency",1062,3,"1.0"]
["C1833102","DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES",1059,3,"0.7858444262284388"]
["C1833104","DIABETES MELLITUS, PERMANENT NEONATAL",1059,3,"0.6547326668620399"]
["C1853564","Developmental Delay, Epilepsy, and Neonatal Diabetes",1059,3,"0.6526422723063499"]
["C0085569","Metabolic acidosis, NAG, acidifying salts",1054,3,"0.8628476839644287"]
["C0268435","Renal Tubular Acidosis, Type II",1054,3,"0.6050004195889871"]
["C1970309","Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation",1054,3,"0.891786331379221"]
["C0002891","Anemia, Neonatal",1052,3,"1.0"]
["C1866810","ELLIPTOCYTOSIS 3",1052,3,"1.0"]
["C2674219","SPHEROCYTOSIS, HEREDITARY, 2",1052,3,"1.0"]
["C1839028","Mitochondrial Myopathy with Diabetes",1047,3,"0.3389560570764341"]
["C3151898","MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT",1047,3,"0.5786318294775631"]
["C3278664","LIVER FAILURE, INFANTILE, TRANSIENT",1047,3,"-0.12010217163380388"]
["C0270855","Early myoclonic encephalopathy",1041,3,"0.4467736328480076","Diseases of the nervous system"]
["C0752324","Focal Tonic Seizures",1041,3,"0.7361462163959118"]
["C4225360","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30",1041,3,"0.4283541506374561"]
["C1969056","LEOPARD SYNDROME 2",1033,3,"1.0"]
["C1969057","Noonan Syndrome 5",1033,3,"1.0"]
["C4014656","CARDIOMYOPATHY, DILATED, 1NN",1033,3,"1.0"]
["C0338503","Septo-Optic Dysplasia",1031,3,"-0.16336113673930933"]
["C0948740","Hypoplasia of the pituitary gland",1031,3,"0.5360899670947916"]
["C2751608","Pituitary Hormone Deficiency, Combined, 1",1031,3,"0.27453070213055975"]
["C0002884","Hypochromic anemia",1030,3,"0.49288060004750484","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2673913","Anemia, Hypochromic Microcytic, With Iron Overload",1030,3,"0.6277283849723938"]
["C3806153","ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1",1030,3,"0.6686264157314609"]
["C1704272","Benign Prostatic Hyperplasia",1024,3,"0.5881553537130132","Diseases of the genitourinary system"]
["C1739363","Prostatic Hypertrophy",1024,3,"0.520484192564409","Diseases of the genitourinary system"]
["C2937421","Prostatic Hyperplasia",1024,3,"0.5826130913334986"]
["C0035934","Rubinstein-Taybi Syndrome",1019,3,"0.5975709126246789","Congenital malformations, deformations and chromosomal abnormalities"]
["C0302486","Erythrophagocytosis",1019,3,"0.4640616262681068"]
["C1864648","CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL",1019,3,"0.6594294626506643"]
["C0265218","Neu-Laxova syndrome",1008,3,"0.4272086722890126"]
["C0580190","3-Phosphoglycerate dehydrogenase deficiency",1008,3,"0.886596251260698"]
["C1866174","Phosphoglycerate Dehydrogenase Deficiency",1008,3,"0.886596251260698"]
["C0432253","Bruck syndrome",1006,3,"0.7474477853062812"]
["C1836602","Bruck syndrome 2",1006,3,"0.7092636895634272"]
["C1850168","Bruck syndrome 1",1006,3,"-0.5278768831732523"]
["C0020681","Sleep-related respiratory failure",999,3,"1.0"]
["C0745186","hypoventilation syndrome",999,3,"1.0"]
["C2751683","Hirschsprung disease ganglioneuroblastoma",999,3,"1.0"]
["C0271829","Pendred\\'s syndrome",993,3,"0.7774531831124953","Endocrine, nutritional and metabolic diseases"]
["C0342162","Compensated hypothyroidism",993,3,"0.51635057976103"]
["C3538946","DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT",993,3,"0.7405127102210545"]
["C0238051","Cerebral Angiitis",990,3,"0.6075693941197113"]
["C0268125","Purine-nucleoside phosphorylase deficiency",990,3,"0.7941676321980821","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1744558","T-lymphocyte deficiency",990,3,"0.7941676321980821"]
["C3150700","MENTAL RETARDATION, AUTOSOMAL DOMINANT 20",985,3,"0.7274649641150404"]
["C4225434","CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL",985,3,"0.5370699789047225"]
["C4304529","5q14.3 microdeletion syndrome",985,3,"0.6635328148757683"]
["C2676727","Chromosome 1q43-Q44 Deletion Syndrome",984,3,"0.8780870026494487"]
["C3808184","MENTAL RETARDATION, AUTOSOMAL DOMINANT 22",984,3,"0.8161607633831922"]
["C4273897","Distal monosomy 1q",984,3,"0.8426823480739919"]
["C0857007","Hyperbilirubinemia, Neonatal",982,3,"0.7606324360864832"]
["C1565885","Direct Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C1565886","Indirect Hyperbilirubinemia, Neonatal",982,3,"0.9273787832393894"]
["C0010324","Crigler Najjar syndrome, type 1",981,3,"0.8394461819402333","Endocrine, nutritional and metabolic diseases"]
["C0270210","Lucey-Driscoll syndrome (disorder)",981,3,"0.39893816404341165"]
["C2931132","Crigler Najjar syndrome, type 2",981,3,"0.8067734964384026"]
["C0023817","Hyperlipoproteinemia Type I",978,3,"0.8365651618876562","Endocrine, nutritional and metabolic diseases"]
["C1261969","Type I hyperlipidaemia",978,3,"0.939650428157356"]
["C2931862","Familial hyperchylomicronemia syndrome",978,3,"0.939650428157356"]
["C1274228","Chylomicronemia syndrome",977,3,"0.1772955585516702"]
["C1855498","Lipase deficiency combined",977,3,"-0.1444570046572897"]
["C4014767","HYPERLIPOPROTEINEMIA, TYPE ID",977,3,"-0.11687904109184909"]
["C0017920","Glycogen Storage Disease Type I",975,3,"0.8965817042091475","Endocrine, nutritional and metabolic diseases"]
["C0029438","Massive Osteolyses",975,3,"0.9413069601199054"]
["C2919796","Glycogen storage disease type Ia",975,3,"0.9525296769022588"]
["C0002735","Oppenheim\\'s Disease",972,3,"0.6460526699610827"]
["C0027868","Neuromuscular Diseases",972,3,"0.5249161850635937","Diseases of the nervous system"]
["C0751381","Foley-Denny-Brown Syndrome",972,3,"0.6460526699610827"]
["C0017536","Giardiasis",971,3,"0.7029823815844127","Certain infectious and parasitic diseases"]
["C0398562","Triose phosphate isomerase deficiency",971,3,"0.8154253186796703"]
["C1860808","Triosephosphate Isomerase Deficiency",971,3,"0.8154253186796703"]
["C3809006","CARDIOFACIOCUTANEOUS SYNDROME 3",968,3,"-0.044681902698250266"]
["C4073145","Hyperkeratosis pilaris",968,3,"0.6092016001181005"]
["C4225282","NOONAN SYNDROME 9",968,3,"0.3194107486488001"]
["C1842675","AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)",959,3,"0.6233561816196592"]
["C2750729","Amyotrophic Lateral Sclerosis 6, Autosomal Recessive",959,3,"0.8203467912697964"]
["C3539195","TREMOR, HEREDITARY ESSENTIAL, 4",959,3,"0.8203467912697964"]
["C0013423","Dystonia Musculorum Deformans",950,3,"0.23166978625628956","Diseases of the nervous system"]
["C1997740","Segmental dystonia",950,3,"0.43799549855031084"]
["C2875058","Familial torsion dystonia",950,3,"0.5394380145597845","Diseases of the nervous system"]
["C0154676","Organic writer\\'s cramp",948,3,"0.14318091640411917"]
["C1834570","Myoclonic dystonia",948,3,"0.5935597966934463"]
["C3697670","Spinal cord myoclonus",948,3,"0.5457101255958811"]
["C0478093","Other congenital malformation syndromes with other skeletal changes",937,3,"0.9560038819681063","Congenital malformations, deformations and chromosomal abnormalities"]
["C1849437","Mainzer-Saldino Disease",937,3,"0.9012147296153906"]
["C4540439","RETINITIS PIGMENTOSA 80",937,3,"0.9560038819681063"]
["C0272350","Dysfibrinogenemia, Congenital",934,3,"0.8517798756666627","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1859970","Hypodysfibrinogenemia, Congenital",934,3,"0.8470576860250706"]
["C2584774","Congenital hypofibrinogenemia",934,3,"0.3820248414219435","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1865643","Cholestasis, progressive familial intrahepatic 3",929,3,"0.9995862957698269"]
["C2609268","Low phospholipid-associated cholelithiasis",929,3,"0.9991717793595999"]
["C3554241","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3",929,3,"0.9995862957698269"]
["C0268146","Glucose-6-phosphate transport defect",924,3,"0.9893526945350989"]
["C0342749","GLYCOGEN STORAGE DISEASE Ic",924,3,"0.9946606070222519"]
["C0342750","Glycogen storage disease type Id",924,3,"0.9946606070222519"]
["C0024131","Lupus Vulgaris",921,3,"0.8907523817339938","Certain infectious and parasitic diseases"]
["C0024138","Lupus Erythematosus, Discoid",921,3,"0.7933361592681518","Diseases of the skin and subcutaneous tissue"]
["C0409974","Lupus Erythematosus",921,3,"0.8960764006613194","Diseases of the skin and subcutaneous tissue"]
["C0002395","Alzheimer\\'s Disease",920,3,"0.7918116861187212","Diseases of the nervous system"]
["C0276496","Familial Alzheimer Disease (FAD)",920,3,"0.8837877429070344"]
["C0750901","Alzheimer Disease, Early Onset",920,3,"0.8867242798750387","Diseases of the nervous system"]
["C0158683","Polycystic liver disease",916,3,"0.5446555302255967"]
["C4310613","POLYCYSTIC LIVER DISEASE 1",916,3,"0.28097223288324835"]
["C4310769","POLYCYSTIC LIVER DISEASE 2",916,3,"0.3010032353390605"]
["C0022680","Polycystic Kidney Diseases",915,3,"0.05851999934951362","Congenital malformations, deformations and chromosomal abnormalities"]
["C0030283","Pancreatic Cyst",915,3,"0.09156354611377121","Diseases of the digestive system"]
["C0267834","Liver cyst",915,3,"0.3012900130798916"]
["C1847902","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)",914,3,"1.0"]
["C1847903","Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia",914,3,"1.0"]
["C3809272","LETHAL CONGENITAL CONTRACTURE SYNDROME 5",914,3,"1.0"]
["C1861863","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)",907,3,"1.0"]
["C2678476","Cardiomyopathy, Dilated, 1y",907,3,"1.0"]
["C3808145","LEFT VENTRICULAR NONCOMPACTION 9",907,3,"1.0"]
["C1836448","Nemaline myopathy 1",906,3,"1.0"]
["C2750414","CAP MYOPATHY, TPM3-RELATED (disorder)",906,3,"1.0"]
["C3714994","CAP MYOPATHY 1",906,3,"1.0"]
["C0206157","Myopathies, Nemaline",905,3,"0.23377173802449006","Diseases of the nervous system"]
["C0546125","Nemaline Myopathy, Childhood Onset",905,3,"0.4783567769891578"]
["C3710589","Cap Myopathy",905,3,"-0.23720934962518309"]
["C1836447","Nemaline myopathy 4",904,3,"1.0"]
["C2750413","Cap Myopathy, Tpm2-Related",904,3,"1.0"]
["C3807907","CAP MYOPATHY 2",904,3,"1.0"]
["C1832588","Chromosome 11p11.2 Deletion Syndrome",899,3,"0.07830883431261354"]
["C1865044","PARIETAL FORAMINA 2",899,3,"0.7487890370512973"]
["C3150703","FRONTONASAL DYSPLASIA 2",899,3,"0.7487890370512973"]
["C0406811","Reticulate acropigmentation of Kitamura",897,3,"0.6744341990884284"]
["C3714534","dowling-degos disease",897,3,"-0.23373296421536385"]
["C3810041","ALZHEIMER DISEASE 18",897,3,"0.5402396229866435"]
["C1836284","Epidermolysis Bullosa Simplex with Migratory Circinate Erythema",896,3,"1.0"]
["C4024851","Punctate palmoplantar hyperkeratosis",896,3,"1.0"]
["C4024872","Progressive reticulate hyperpigmentation",896,3,"1.0"]
["C0343111","Naegeli syndrome",895,3,"1.0"]
["C3715082","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1",895,3,"1.0"]
["C4021831","Hypohidrosis or hyperhidrosis",895,3,"1.0"]
["C0342488","Mineralocorticoid Excess Syndrome, Apparent",893,3,"0.9478416376228934"]
["C2936861","Cortisol 11-beta-ketoreductase deficiency",893,3,"0.9460125033708048"]
["C3887949","Apparent mineralocorticoid excess",893,3,"0.8564809549942711"]
["C1841972","Glucocorticoid Receptor Deficiency",891,3,"0.9927601585830177"]
["C1841973","Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance",891,3,"0.9963818010290002"]
["C2930863","Primary cortisol resistance",891,3,"0.9963818010290002"]
["C0751267","Encephalopathy, Subacute Necrotizing, Infantile",881,3,"0.857674198972885"]
["C0751268","Encephalopathy, Subacute Necrotizing, Juvenile",881,3,"0.8675508088432191"]
["C1855038","Hepatocellular necrosis",881,3,"0.7549663395038722"]
["C0206138","CREST Syndrome",878,3,"0.8950016376318017","Diseases of the musculoskeletal system and connective tissue"]
["C0748540","Scleroderma, Limited",878,3,"0.8699461372542555"]
["C1258104","Diffuse Scleroderma",878,3,"0.7959991160811233"]
["C0406556","Hereditary acrokeratotic poikiloderma of Weary",875,3,"0.9998800359880042"]
["C0406557","Poikiloderma of Kindler",875,3,"0.9997600815698676"]
["C4024863","Diffuse skin atrophy",875,3,"0.9998800359880042"]
["C0393808","Charcot-Marie-Tooth disease, X-linked, 1",873,3,"0.06324389317037231"]
["C0796205","SPINOCEREBELLAR ATAXIA, X-LINKED 1",873,3,"0.598042981257952"]
["C2678048","Spinocerebellar Ataxia, X-Linked 5",873,3,"0.12215868177455817"]
["C1852577","FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)",865,3,"0.7686061981518031"]
["C1858493","FEBRILE CONVULSIONS, FAMILIAL, 4",865,3,"0.7686061981518031"]
["C2931213","Usher syndrome, type 2C",865,3,"0.29239864051618736"]
["C0339534","Usher syndrome type 2",864,3,"0.38304931576176277"]
["C1568249","Usher Syndrome, Type II",864,3,"0.632976680289457"]
["C1846839","DEAFNESS, AUTOSOMAL RECESSIVE 31",864,3,"0.5999571585459018"]
["C1848604","USHER SYNDROME, TYPE IC",863,3,"1.0"]
["C1865870","Deafness, Autosomal Recessive 18",863,3,"1.0"]
["C2931207","Usher syndrome, type 1C",863,3,"1.0"]
["C1848638","USHER SYNDROME, TYPE IB (disorder)",861,3,"0.9429931158741602"]
["C1848639","USHER SYNDROME, TYPE IA, FORMERLY",861,3,"0.9812096156815548"]
["C1848640","USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY",861,3,"0.9812096156815548"]
["C1836027","Deafness, Autosomal Recessive 23",858,3,"1.0"]
["C1865885","Usher Syndrome, Type IF",858,3,"1.0"]
["C2931210","Usher syndrome, type 1F",858,3,"1.0"]
["C0270736","Essential Tremor",852,3,"0.5464091227042035","Diseases of the nervous system"]
["C0393615","Familial Tremor",852,3,"0.6111263431041652","Diseases of the nervous system"]
["C3810400","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19",852,3,"0.08425671391134876"]
["C1836522","Schindler Disease, Type II",851,3,"1.0"]
["C1836544","Schindler Disease, Type I",851,3,"1.0"]
["C1836545","Schindler Disease, Type III",851,3,"1.0"]
["C0019099","Hemorrhagic Fever, Crimean",845,3,"0.8495692779949102","Certain infectious and parasitic diseases"]
["C2062416","Sindbis virus infection",845,3,"0.46344353527434035"]
["C4015293","IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION",845,3,"0.8495692779949102"]
["C0032461","Polycythemia",844,3,"0.3964866500659292","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0152264","Familial erythrocytosis",844,3,"0.16401170177288724","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1868945","Polyglobulia",844,3,"-0.04673501290061726"]
["C0268405","Hemodialysis-associated amyloidosis",843,3,"0.9995847969407822","Endocrine, nutritional and metabolic diseases"]
["C1855796","Hypoproteinemia, Hypercatabolic",843,3,"0.9991698374090562"]
["C4302669","Autosomal dominant beta2-microglobulinic amyloidosis",843,3,"0.9995847969407822"]
["C0751915","Pelizaeus-Merzbacher Disease, Atypical",842,3,"-0.06237825017840796"]
["C0751916","Classic Pelizaeus-Merzbacher Disease",842,3,"0.8141384415420143"]
["C0751917","Pelizaeus-Merzbacher Disease, Transitional",842,3,"0.8617814500202288"]
["C0477325","Immunodeficiency associated with other specified major defects",839,3,"0.691051323588151","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1866426","T-cell immunodeficiency, congenital alopecia and nail dystrophy",839,3,"0.3026283372600724"]
["C2677792","Riddle Syndrome",839,3,"0.33586652047177323"]
["C1861827","Cataract, Nuclear Diffuse Nonprogressive",835,3,"1.0"]
["C3805411","CATARACT 30",835,3,"1.0"]
["C4024821","Diffuse nuclear cataract",835,3,"1.0"]
["C0574083","3-Methylglutaconic aciduria type 2",833,3,"0.7260689491801807","Endocrine, nutritional and metabolic diseases"]
["C1533847","Disorder of skeletal muscle",833,3,"0.2552427363235237"]
["C1844917","Intermittent lactic acidemia",833,3,"0.7452101373728698"]
["C0036310","Scheuermann\\'s Disease",829,3,"0.4999999999999999","Diseases of the musculoskeletal system and connective tissue"]
["C0265211","Marshall-Smith syndrome",829,3,"0.8200569756647982"]
["C3553660","SOTOS SYNDROME 2",829,3,"0.8200569756647982"]
["C0339651","Horizontal gaze palsy",827,3,"0.9666845092685129"]
["C1846496","Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",827,3,"0.9271871010126558"]
["C2062713","Progressive ophthalmoplegia",827,3,"0.9666845092685129"]
["C1838103","MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA",823,3,"0.7321760250159568"]
["C1838114","Generalized limb muscle atrophy",823,3,"0.38499870284385157"]
["C3150802","MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2",823,3,"0.7245721207629258"]
["C0268255","Farber Lipogranulomatosis",818,3,"0.9386606921630369"]
["C1704214","Lipogranuloma",818,3,"0.9748766781787006","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1834569","Jankovic Rivera syndrome",818,3,"0.9748766781787006"]
["C0221207","Urticaria due to cold",814,3,"1.0"]
["C3280914","FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3",814,3,"1.0"]
["C3553961","AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED",814,3,"1.0"]
["C1849115","SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)",811,3,"0.9731287373468499"]
["C2931356","Spastic paraplegia type 5A, recessive",811,3,"0.9851970623032484"]
["C3151147","Bile Acid Synthesis Defect, Congenital, 3",811,3,"0.9859981793475688"]
["C0206145","Stunned Myocardium",800,3,"0.999445265808033"]
["C0206146","Myocardial Stunning",800,3,"0.9988911463372175"]
["C0376416","Hibernation, Myocardial",800,3,"0.999445265808033"]
["C0022575","Keratoconjunctivitis Sicca",798,3,"0.9951472524328929"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Endocrine, nutritional and metabolic diseases"]
["C0043349","Xerophthalmia",798,3,"0.997567866970376","Diseases of the eye and adnexa"]
["C2930821","Keratitis sicca",798,3,"0.997567866970376"]
["C0339541","Goldmann-Favre syndrome (disorder)",795,3,"0.984505291641177"]
["C1849394","Enhanced S-Cone Syndrome",795,3,"0.9667430430395695"]
["C1970163","RETINITIS PIGMENTOSA 37 (disorder)",795,3,"0.962344475813138"]
["C0339510","Vitelliform Macular Dystrophy",793,3,"0.8233657329572984"]
["C1842914","Adult-Onset Vitelliform Macular Dystrophy",793,3,"0.8283560327766557"]
["C2745945","Juvenile-Onset Vitelliform Macular Dystrophy",793,3,"0.7253407515262078"]
["C0029128","Optic Disk Drusen",792,3,"0.20550470039106183","Diseases of the eye and adnexa"]
["C1836006","NANOPHTHALMOS 2 (disorder)",792,3,"0.8599539647022699"]
["C1970236","Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen",792,3,"0.8599539647022699"]
["C1272174","Scotopic sensitivity",791,3,"1.0"]
["C1864869","Night Blindness, Congenital Stationary, Autosomal Dominant 1",791,3,"1.0"]
["C3151001","Retinitis Pigmentosa 4",791,3,"1.0"]
["C0043167","Pertussis",785,3,"0.6912462089672032","Certain infectious and parasitic diseases"]
["C0043168","Whooping cough due to unspecified organism",785,3,"0.28291312439684885","Certain infectious and parasitic diseases"]
["C4015695","LONG QT SYNDROME 15",785,3,"0.547801524240991"]
["C2750466","Cardiomyopathy, Dilated, 1EE",783,3,"1.0"]
["C2750467","Cardiomyopathy, Familial Hypertrophic, 14",783,3,"1.0"]
["C3279790","Atrial Septal Defect 3",783,3,"1.0"]
["C0085612","Ventricular arrhythmia",782,3,"0.23372798040210413"]
["C0349788","Arrhythmogenic Right Ventricular Dysplasia",782,3,"0.5191472778343972"]
["C2063326","Right ventricular cardiomyopathy",782,3,"0.530577282276811"]
["C0694539","Chronic atrial fibrillation",776,3,"0.3908464338762619","Diseases of the circulatory system"]
["C3279693","ATRIAL FIBRILLATION, FAMILIAL, 11",776,3,"0.5675442384934412"]
["C4021885","Atrial cardiomyopathy",776,3,"0.5675442384934412"]
["C0238357","Hyperkalemic periodic paralysis",772,3,"-0.19516692537879207","Diseases of the nervous system"]
["C0238358","Hypokalemic periodic paralysis",772,3,"0.7694109468883786","Diseases of the nervous system"]
["C3714580","Hypokalemic periodic paralysis type 1",772,3,"0.6652086315805826"]
["C0340485","Familial ventricular tachycardia",769,3,"0.4752232311595044"]
["C1631597","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)",769,3,"0.3177747476805047"]
["C2677794","Stress-induced polymorphic ventricular tachycardia",769,3,"0.5970727536649647"]
["C1563715","Andersen Syndrome",767,3,"0.7380505219137307"]
["C1865018","Short QT Syndrome 3",767,3,"0.8144910935639863"]
["C3151431","ATRIAL FIBRILLATION, FAMILIAL, 9",767,3,"0.8454787802995483"]
["C1862394","Atrial Fibrillation, Familial, 4",766,3,"0.9039762451165609"]
["C2732979","Acquired long QT syndrome",766,3,"0.7226407697041758"]
["C3150953","Long Qt Syndrome 6",766,3,"0.9039762451165609"]
["C0264893","Nodal rhythm disorder",764,3,"0.9999999999999991","Diseases of the circulatory system"]
["C0348626","Other specified cardiac arrhythmias",764,3,"0.9999999999999991","Diseases of the circulatory system"]
["C1399226","Ectopic rhythm",764,3,"0.9999999999999991","Diseases of the circulatory system"]
["C0041316","Lymph Node Tuberculosis",756,3,"0.6827599555298884","Certain infectious and parasitic diseases"]
["C0041326","Pleural Tuberculosis",756,3,"0.14469958798503868","Certain infectious and parasitic diseases"]
["C0206525","Tuberculosis, Drug-Resistant",756,3,"0.6568205172927352"]
["C0581384","Chronic anemia",753,3,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1142276","Renal anemia",753,3,"1.0"]
["C1442826","Neonatal necrotizing enterocolitis",753,3,"1.0"]
["C0282488","Interstitial Cystitis",742,3,"0.777128840942785"]
["C0600040","Chronic interstitial cystitis",742,3,"0.8729709659292256","Diseases of the genitourinary system"]
["C1720830","Painful Bladder Syndrome",742,3,"0.8705567128059806"]
["C0151860","Acquired porencephaly",739,3,"0.7212362652483564"]
["C1867983","PORENCEPHALY, FAMILIAL",739,3,"0.8638183306067212"]
["C4082173","Porencephaly",739,3,"0.8350679879689631"]
["C1853116","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)",736,3,"1.0"]
["C2751807","Emery-Dreifuss Muscular Dystrophy 4",736,3,"1.0"]
["C3683483","Autosomal Recessive Cerebellar Ataxia Type 1",736,3,"1.0"]
["C0007194","Hypertrophic Cardiomyopathy",733,3,"0.22620869394767568"]
["C0597124","Obstructive asymmetric septal hypertrophy",733,3,"0.17563490499997078"]
["C0949658","Cardiomyopathy, Hypertrophic, Familial",733,3,"0.22609807926612985"]
["C1833429","D-2-hydroxyglutaric aciduria",727,3,"0.7690668706639195"]
["C3150909","D-2-HYDROXYGLUTARIC ACIDURIA 2",727,3,"0.3286182771296225"]
["C3152055","D-2-HYDROXYGLUTARIC ACIDURIA 1",727,3,"0.5957431952119965"]
["C0014084","Enchondromatosis",726,3,"0.3584150682868974","Congenital malformations, deformations and chromosomal abnormalities"]
["C0024454","Maffucci Syndrome",726,3,"0.5486255438897298","Congenital malformations, deformations and chromosomal abnormalities"]
["C3553958","METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA",726,3,"0.6091163941300523"]
["C0263627","Calcinosis universalis",720,3,"0.9898149399542363"]
["C0282102","Chondrodysplasia punctata, X-linked dominant type",720,3,"0.9758431221748454"]
["C4085243","MEND SYNDROME",720,3,"0.9898149399542363"]
["C1290587","Failure of tooth eruption",719,3,"1.0"]
["C1838779","Eiken Skeletal Dysplasia",719,3,"1.0"]
["C1852222","Failure of Tooth Eruption, Primary",719,3,"1.0"]
["C2674504","Palmoplantar Hyperkeratosis And True Hermaphroditism",715,3,"0.8440641391986548"]
["C3502495","Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal",715,3,"0.8440641391986548"]
["C3670629","Orthokeratotic hyperkeratosis",715,3,"0.6939368978354226"]
["C0017612","Glaucoma, Open-Angle",706,3,"0.9176231352915618","Diseases of the eye and adnexa"]
["C0271148","Secondary Open Angle Glaucoma",706,3,"0.9130639727499217"]
["C0339573","Glaucoma, Primary Open Angle",706,3,"0.8729406052878422","Diseases of the eye and adnexa"]
["C1622345","Meretoja syndrome",703,3,"0.995965984222995"]
["C1628319","Lattice corneal dystrophy Type II",703,3,"0.9979769960344356"]
["C2751493","Cerebral Amyloid Angiopathy, Gsn-Related",703,3,"0.9979769960344356"]
["C1843075","Charcot-Marie-Tooth Disease, Dominant Intermediate D",691,3,"0.8468490603049523"]
["C1843153","Charcot-Marie-Tooth disease, Type 2J",691,3,"0.8468490603049523"]
["C3888087","Charcot-Marie-Tooth disease, Type 2I",691,3,"0.7490668406613542"]
["C1408174","Hypertrophic neuropathy of infancy",689,3,"0.9999999999999986","Diseases of the nervous system"]
["C1408182","Hereditary motor and sensory neuropathy, types I-IV",689,3,"0.9999999999999986","Diseases of the nervous system"]
["C2875300","Peroneal muscular atrophy (axonal type) (hypertrophic type)",689,3,"0.9999999999999986","Diseases of the nervous system"]
["C0265010","Ruptured thoracic aortic aneurysm",684,3,"1.0","Diseases of the circulatory system"]
["C0265012","Ruptured abdominal aortic aneurysm",684,3,"1.0","Diseases of the circulatory system"]
["C1305122","Thoracoabdominal aortic aneurysm, ruptured",684,3,"1.0","Diseases of the circulatory system"]
["C0026654","Moyamoya Disease",680,3,"0.6655290714581548","Diseases of the circulatory system"]
["C1846689","MOYAMOYA DISEASE 2",680,3,"0.6836109900131213"]
["C2931384","Moyamoya disease 1",680,3,"0.7093672519116213"]
["C3279664","Emberger syndrome",675,3,"1.0"]
["C3280030","GATA2 Deficiency",675,3,"1.0"]
["C3711382","Familial Acute Myeloid Leukemia with Mutated Cebpa",675,3,"1.0"]
["C0030481","Tropical Spastic Paraparesis",669,3,"0.7825710467700424","Diseases of the nervous system"]
["C1836724","CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)",669,3,"0.8858087713907828"]
["C2750448","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6",669,3,"0.8858087713907828"]
["C0041408","Turner Syndrome",667,3,"0.8796930430457222","Congenital malformations, deformations and chromosomal abnormalities"]
["C0242526","Gonadal Dysgenesis, 45,X",667,3,"0.9337494341693557"]
["C1527168","Bonnevie-Ullrich Syndrome",667,3,"0.9301641496296009"]
["C0029125","Optic Atrophies, Hereditary",666,3,"0.8345644831608175","Diseases of the eye and adnexa"]
["C1839040","LEBER OPTIC ATROPHY AND DYSTONIA",666,3,"0.8360800798989169"]
["C4304725","Leber plus disease",666,3,"0.694539227517883"]
["C0031111","Periostitis",665,3,"0.9913935913667882"]
["C0524988","Schnitzler Syndrome",665,3,"0.9888710994603438"]
["C2748507","INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY",665,3,"0.9957043298961112","Diseases of the musculoskeletal system and connective tissue"]
["C0220659","Acrodysostosis",657,3,"0.8241677737172741"]
["C3276228","ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"-0.16389526182823616"]
["C3553250","ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE",657,3,"0.7720990443266798"]
["C0268618","Cystathioninemia",651,3,"0.6261277013972278"]
["C1848561","Methylmalonic acidemia with homocystinuria",651,3,"0.2482599431999349"]
["C1848578","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)",651,3,"0.2899897720670095"]
["C0001197","Acrodermatitis",650,3,"0.7715142398895035"]
["C0221036","Acrodermatitis enteropathica",650,3,"0.4785952375210708","Endocrine, nutritional and metabolic diseases"]
["C0263372","Gianotti-Crosti Syndrome",650,3,"0.758742228236008"]
["C0002874","Aplastic Anemia",649,3,"0.5901995607011472","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0178416","Hypoplastic anemia",649,3,"0.6198763860470586","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0348890","Aplastic anemia, idiopathic",649,3,"0.45142364766888704","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0038605","Subungual hyperkeratosis",647,3,"0.12349593724483938"]
["C2609071","Olmsted syndrome",647,3,"0.6115441670349493"]
["C4225339","PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2",647,3,"0.6389246684184573"]
["C0796012","Krause-Kivlin syndrome",645,3,"0.27075155351078234"]
["C1844579","Exudative Vitreoretinopathy, Familial, X-Linked Recessive",645,3,"0.06364462620958879"]
["C4024788","Anterior chamber synechiae",645,3,"0.6250101944893658"]
["C0022904","Lacrimal Apparatus Diseases",644,3,"0.776674791710952","Diseases of the eye and adnexa"]
["C0152227","Excessive tearing",644,3,"0.5102236067263464","Diseases of the eye and adnexa"]
["C1970027","Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility",644,3,"0.776674791710952"]
["C4225370","MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",635,3,"1.0"]
["C4225371","MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL",635,3,"1.0"]
["C4225372","MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL",635,3,"1.0"]
["C0004782","Basal Ganglia Diseases",628,3,"0.8582926301108811"]
["C0015371","Extrapyramidal Disorders",628,3,"0.7655680214129266"]
["C0750951","Lenticulostriate Disorders",628,3,"0.8643775304349076"]
["C2677877","Surfactant Metabolism Dysfunction, Pulmonary, 4",622,3,"0.3535460315848249"]
["C2931035","Pulmonary alveolar proteinosis, congenital",622,3,"0.7010064470016536"]
["C3280574","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5",622,3,"0.3343465929888127"]
["C0014078","Venezuelan equine encephalomyelitis",620,3,"0.6221572821299786","Certain infectious and parasitic diseases"]
["C0275524","Coinfection",620,3,"0.37299630712862025"]
["C0276623","Chronic viral hepatitis",620,3,"0.6052393843629835","Certain infectious and parasitic diseases"]
["C1855648","KENNY-CAFFEY SYNDROME, TYPE 1",616,3,"0.9990504895209058"]
["C1855840","HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME",616,3,"0.9995469127726716"]
["C4310667","ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY",616,3,"0.9995469127726716"]
["C0342495","Macronodular adrenal hyperplasia",614,3,"0.5687111613923593"]
["C1857451","Acth-Independent Macronodular Adrenal Hyperplasia",614,3,"-0.05936912691847838"]
["C4014803","ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2",614,3,"0.6554777932173166"]
["C1859309","Syndactyly Cenani Lenz type",604,3,"0.8357155055126663"]
["C3280402","SCLEROSTEOSIS 2",604,3,"0.9092710230453434"]
["C4225377","MYASTHENIC SYNDROME, CONGENITAL, 17",604,3,"0.9092710230453434"]
["C0026707","Mucopolysaccharidosis IV",598,3,"0.9845297634537332","Endocrine, nutritional and metabolic diseases"]
["C0086651","Mucopolysaccharidosis, MPS-IV-A",598,3,"0.9659513527253764","Endocrine, nutritional and metabolic diseases"]
["C3179194","GALNS Deficiency",598,3,"0.9609657479084741"]
["C0038522","Subacute Sclerosing Panencephalitis",597,3,"0.7063493783066593","Certain infectious and parasitic diseases"]
["C0085404","POEMS Syndrome",597,3,"0.5852491760783035"]
["C0156221","Acute glomerulonephritis",597,3,"0.7890951737804504","Diseases of the genitourinary system"]
["C1863534","Stargardt disease 4",590,3,"0.7923232625833374"]
["C2675210","CONE-ROD DYSTROPHY 12 (disorder)",590,3,"0.9384499988086357"]
["C2677516","RETINITIS PIGMENTOSA 41 (disorder)",590,3,"0.9384499988086357"]
["C0017665","Membranous glomerulonephritis",589,3,"0.49120330093183806","Diseases of the genitourinary system"]
["C0086445","Idiopathic Membranous Glomerulonephritis",589,3,"0.6323777257800894"]
["C1704378","Heymann Nephritis",589,3,"0.6437088323977782"]
["C0032269","Pneumococcal Infections",588,3,"0.2159556364799022"]
["C1835828","Invasive Pneumococcal Disease, Recurrent Isolated, 1",588,3,"0.5508357419707705"]
["C1843256","IRAK4 Deficiency",588,3,"-0.14411104728402485"]
["C1862937","AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1",582,3,"0.7179597827326383"]
["C3711380","Huntington Disease-Like Syndrome",582,3,"0.6849211785798515"]
["C3888102","Frontotemporal Dementia With Motor Neuron Disease",582,3,"0.445749492798975"]
["C1838644","Stargardt disease 3",578,3,"0.8897922138617702"]
["C1851481","Erythrokeratodermia with ataxia",578,3,"0.9630267096025565"]
["C3280856","ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION",578,3,"0.9630267096025565"]
["C1864900","Retinal Cone Dystrophy 3A",577,3,"0.8575898266315448"]
["C3552227","ACHROMATOPSIA 6",577,3,"0.8575898266315448"]
["C3665342","Progressive cone degeneration",577,3,"0.7549496193588813"]
["C0242852","Proliferative vitreoretinopathy",576,3,"0.8723962637600372"]
["C0474355","Peripheral retinal neovascularization",576,3,"0.8042324568764777"]
["C1850109","Vitreoretinopathy",576,3,"0.5911328219081341"]
["C0015526","Factor XII Deficiency",561,3,"0.970897363014728"]
["C1857728","Hereditary Angioedema Type III",561,3,"0.9853275367424803"]
["C1960459","Hereditary angioedema with normal C1 esterase inhibitor activity",561,3,"0.9853275367424803"]
["C0398775","Hereditary C1 esterase inhibitor deficiency - deficient factor",558,3,"1.0"]
["C0398776","Hereditary C1 esterase inhibitor deficiency - dysfunctional factor",558,3,"1.0"]
["C1852700","Complement Component 4, Partial Deficiency Of",558,3,"1.0"]
["C1862892","Hereditary Angioedema Type II",557,3,"0.5570129071141456"]
["C2717905","Hereditary Angioedema Types I and II",557,3,"0.7461332922340903"]
["C2717906","Hereditary Angioedema Type I",557,3,"0.4850735096234576"]
["C0342191","Familial dyshormonogenetic goiter",552,3,"0.862527491884882"]
["C0342194","Thyroid Dyshormonogenesis 3",552,3,"0.7827759616504689"]
["C1321809","HYPOTHYROIDISM, GOITROUS",552,3,"0.29301253514214554"]
["C0027662","Multiple Endocrine Neoplasia",551,3,"0.9223835252926107","Endocrine, nutritional and metabolic diseases"]
["C0345244","Neuronal intestinal dysplasia",551,3,"0.9599060098797502"]
["C0878627","Mucosal neuromas",551,3,"0.9599060098797502"]
["C1855008","Mitochondrial Complex II Deficiency",543,3,"0.7739732075926655"]
["C4020801","Respiratory complex II deficiency",543,3,"0.7038195613641884"]
["C4025278","Stress/infection-induced lactic acidosis",543,3,"0.8029417514500117"]
["C1846009","Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies",535,3,"0.9986853482037406"]
["C1859977","Adrenal Hypoplasia, Cytomegalic Type",535,3,"0.9993422950979884"]
["C3887743","WILMS TUMOR 2",535,3,"0.9993422950979884"]
["C0521648","Neonatal respiratory failure",534,3,"1.0","Certain conditions originating in the perinatal period"]
["C1970456","Surfactant Metabolism Dysfunction, Pulmonary, 3",534,3,"1.0"]
["C3161105","Neuroendocrine cell hyperplasia of infancy",534,3,"1.0","Diseases of the respiratory system"]
["C0400914","Acute hepatitis C",531,3,"0.6261110645443679","Certain infectious and parasitic diseases"]
["C3887641","Recurrent hepatitis",531,3,"0.49895779289241626"]
["C4288963","Hepatitis C Virus Infection",531,3,"0.3365397970214199"]
["C3714932","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14",518,3,"0.7035716343580917"]
["C3809216","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14",518,3,"0.6580359225190742"]
["C3809221","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14",518,3,"0.8170220017721667"]
["C1846672","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I",515,3,"0.9019463551975432"]
["C1847759","MUSCULAR DYSTROPHY, CONGENITAL, 1C",515,3,"0.9017876054966837"]
["C3150413","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5",515,3,"0.7043975488648069"]
["C3150411","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2",514,3,"0.6411331857370002"]
["C3150416","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2",514,3,"0.807506899125178"]
["C3150418","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2",514,3,"0.6914998959080981"]
["C1969024","CARDIOMYOPATHY, DILATED, 1X",512,3,"0.9366599214634904"]
["C1969040","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M",512,3,"0.9366599214634904"]
["C2751052","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4",512,3,"0.8331274404615924"]
["C0037205","Sirenomelia",503,3,"0.6016812845060548"]
["C1838568","Sacral defect and anterior sacral meningocele",503,3,"0.8414098490473976"]
["C1838569","Caudal Dysgenesis Syndrome",503,3,"0.8414098490473976"]
["C0085652","Pyoderma Gangrenosum",500,3,"0.6918009783286836","Diseases of the skin and subcutaneous tissue"]
["C1858361","Pyogenic Arthritis, Pyoderma Gangrenosum and Acne",500,3,"0.846074601619638","Diseases of the musculoskeletal system and connective tissue"]
["C1860229","Hyperzincemia and Hypercalprotectinemia",500,3,"0.8468162117375383"]
["C0025289","Meningitis",488,3,"0.4054667660952955","Diseases of the nervous system"]
["C0030167","Pachymeningitis",488,3,"0.5842891022745549","Diseases of the nervous system"]
["C0085396","Neisseriaceae Infections",488,3,"0.36184227237429056"]
["C0149521","Pancreatitis, Chronic",482,3,"0.607667691968452","Diseases of the digestive system"]
["C0238339","Hereditary pancreatitis",482,3,"0.679838830712387"]
["C4080064","Autosomal Dominant Hereditary Pancreatitis",482,3,"0.5804737220382183"]
["C0340100","High altitude pulmonary edema",473,3,"0.9623565415098887"]
["C0340552","High altitude pulmonary hypertension",473,3,"0.9820151197518853"]
["C3810403","MOYAMOYA DISEASE 6 WITH ACHALASIA",473,3,"0.9820151197518853"]
["C0024439","Macular corneal dystrophy",470,3,"0.5071414334092669","Diseases of the eye and adnexa"]
["C1636149","Macular dystrophy, corneal type 1",470,3,"0.8606440409841078"]
["C1691013","Macular corneal dystrophy Type II (disorder)",470,3,"0.8645581174881485"]
["C0010674","Cystic Fibrosis",467,3,"0.5892730011162615","Endocrine, nutritional and metabolic diseases"]
["C0392164","Pulmonary Cystic Fibrosis",467,3,"0.8001508392139184"]
["C1527396","Fibrocystic Disease of Pancreas",467,3,"0.7807789872660039"]
["C1644196","Ectopia Lentis with Ectopia of Pupil",458,3,"1.0"]
["C2673634","Ectopia Lentis, Isolated, Autosomal Recessive",458,3,"1.0"]
["C3541474","ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE",458,3,"1.0"]
["C0016052","Fibromuscular Dysplasia",452,3,"0.9238496277384697","Diseases of the circulatory system"]
["C0268351","Cutis Laxa, Autosomal Recessive, Type I",452,3,"0.6451934027243647"]
["C2315541","Diverticulum of renal calyx",452,3,"0.9238496277384697"]
["C2751316","Glaucoma 3, Primary Congenital, D",447,3,"1.0"]
["C3538951","MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA",447,3,"1.0"]
["C3553785","WEILL-MARCHESANI SYNDROME 3",447,3,"1.0"]
["C0339578","Corticosteroid-induced glaucoma",445,3,"0.8538617180604857"]
["C1842028","GLAUCOMA 1, OPEN ANGLE, A",445,3,"0.5674554783513097"]
["C4068743","Juvenile open angle",445,3,"0.9064004855289406"]
["C1856439","GLAUCOMA 3, PRIMARY CONGENITAL, A",444,3,"0.2380619977083376"]
["C2981140","Glaucoma of childhood",444,3,"0.41241971712338665","Congenital malformations, deformations and chromosomal abnormalities"]
["C3278153","GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET",444,3,"0.7011851234458101"]
["C1861735","Dementia, familial Danish",435,3,"0.9985719095207836"]
["C1867773","Dementia, familial British",435,3,"0.9990471619214217"]
["C4015146","RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES",435,3,"0.998645617247303"]
["C1510489","Cerebral Amyloid Angiopathy, Hereditary",433,3,"-0.004870186762593165"]
["C1527338","Hereditary Cerebral Amyloid Angiopathy, Icelandic Type",433,3,"0.612738612285398"]
["C2677774","Age-Related Macular Degeneration type 11",433,3,"0.7150800102457622"]
["C1704299","Hypobetalipoproteinemia, Familial, Apolipoprotein B",432,3,"0.9924597476952364"]
["C1862596","Familial hypobetalipoproteinemia",432,3,"0.9837625351393181","Endocrine, nutritional and metabolic diseases"]
["C3888316","Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B",432,3,"0.9924597476952364"]
["C0162569","Hepatoerythropoietic Porphyria",429,3,"0.9461494793810225"]
["C0268323","Familial porphyria cutanea tarda",429,3,"0.9461494793810225"]
["C0342861","Uroporphyrinogen decarboxylase deficiency",429,3,"0.8874155545355793"]
["C0432225","Metaphyseal chondrodysplasia Spahr type",424,3,"1.0"]
["C1865832","Spondyloepimetaphyseal Dysplasia, Missouri Type",424,3,"1.0"]
["C2748495","Metaphyseal Anadysplasia 1",424,3,"1.0"]
["C0856742","Post MI",423,3,"0.6130718739759924"]
["C1959859","Acute lyme disease",423,3,"0.7717929577686702"]
["C2751322","Metaphyseal Anadysplasia 2",423,3,"0.7717929577686702"]
["C1864851","Pigmented Nodular Adrenocortical Disease, Primary, 2",422,3,"0.4005477155037526"]
["C4025760","Primary hypercorticolism",422,3,"0.4160512167133256"]
["C4304832","Primary pigmented nodular adrenocortical disease",422,3,"0.41926813142409314"]
["C0740302","5q-syndrome",401,3,"0.8492011607476743"]
["C1802398","Chromosome 5, trisomy 5q",401,3,"0.3858529045736364"]
["C2675059","Refractory macrocytic anemia",401,3,"0.7833326365550884"]
["C0391816","Tietz syndrome",396,3,"1.0"]
["C1860339","WAARDENBURG SYNDROME, TYPE IIA",396,3,"1.0"]
["C4310625","COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS",396,3,"1.0"]
["C0221228","Comedone",388,3,"0.2997783391966423"]
["C3280309","ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY",388,3,"0.8370005939492603"]
["C4310760","LETHAL CONGENITAL CONTRACTURE SYNDROME 10",388,3,"0.8370005939492603"]
["C1843181","Noonan syndrome-like disorder with loose anagen hair",386,3,"1.0"]
["C3501846","Noonan-Like Syndrome With Loose Anagen Hair",386,3,"1.0"]
["C4478716","NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1",386,3,"1.0"]
["C1969342","PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED",383,3,"0.9868324341050282"]
["C1969343","Pulmonary Hypertension, Primary, Fenfluramine-Associated",383,3,"0.993366345217903"]
["C3714844","Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia",383,3,"0.993366345217903"]
["C0456702","Severe childhood autosomal recessive muscular dystrophy",372,3,"0.5271687596976515"]
["C2936331","Sarcoglycanopathies",372,3,"0.7762510451773604"]
["C2936332","Alpha-Sarcoglycanopathies",372,3,"0.7392300316175178"]
["C0085077","Sweet Syndrome",367,3,"0.953678479718495","Diseases of the skin and subcutaneous tissue"]
["C0472762","Alpha trait thalassemia",367,3,"0.818970631667975","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C4016158","ALPHA-THALASSEMIA, HMONG TYPE",367,3,"0.953678479718495"]
["C0700299","Heinz Body Anemias",365,3,"0.8241006547436603"]
["C2873756","Severe beta thalassemia",365,3,"0.9386566716242557","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3665425","Hemoglobin M Disease",365,3,"0.9317457366317579","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0019045","Hemoglobinopathies",364,3,"0.5247726828049897","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0472767","Beta thalassemia intermedia",364,3,"0.1724637368799377"]
["C4274391","Dominant beta-thalassemia",364,3,"0.6207944424505132"]
["C4290090","diabetes (mellitus) due to autoimmune process",360,3,"0.9999999999999989","Endocrine, nutritional and metabolic diseases"]
["C4290091","diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction",360,3,"0.9999999999999989","Endocrine, nutritional and metabolic diseases"]
["C4290092","idiopathic diabetes (mellitus)",360,3,"0.9999999999999989","Endocrine, nutritional and metabolic diseases"]
["C2931107","Myasthenic syndrome, congenital, postsynaptic slow-channel",355,3,"1.0"]
["C4084823","MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL",355,3,"1.0"]
["C4225405","MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL",355,3,"1.0"]
["C0236642","Pick Disease of the Brain",345,3,"0.5419150727408674","Diseases of the nervous system"]
["C0520716","Pallidopontonigral degeneration",345,3,"0.6788239293970225"]
["C1838313","Pick Complex",345,3,"0.6843124998593689"]
["C0038368","Stomatognathic Diseases",342,3,"0.9999999999999989"]
["C1704330","Dental Diseases",342,3,"0.9999999999999989","Diseases of the digestive system"]
["C2750325","Oculootodental Syndrome",342,3,"0.9999999999999989"]
["C0271846","Familial hyperparathyroidism",335,3,"0.6671952657434286"]
["C1840402","HYPERPARATHYROIDISM 1",335,3,"0.4071805099846771"]
["C1864729","HYPERPARATHYROIDISM 3",335,3,"0.6642752246845705"]
["C1853137","BRACHYDACTYLY-SYNDACTYLY SYNDROME",334,3,"1.0"]
["C2609259","Symphysis Pubis Dysfunction",334,3,"1.0"]
["C4310807","BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME",334,3,"1.0"]
["C0342345","Hypoparathyroidism - autosomal dominant",331,3,"0.9063577220662862"]
["C1832648","Hypoparathyroidism familial isolated",331,3,"0.8584214123250228"]
["C1840334","Hypoparathyroidism, Autosomal Recessive",331,3,"0.7384861939472478"]
["C1843244","EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2",325,3,"0.7528190837205182"]
["C1858674","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3",325,3,"0.8681975646246107"]
["C1969810","FEBRILE CONVULSIONS, FAMILIAL, 8",325,3,"0.7297305649589085"]
["C0751122","Infantile Severe Myoclonic Epilepsy",322,3,"0.18096337931088682"]
["C0752323","Focal Clonic Seizures",322,3,"0.6149643692687011"]
["C4023511","Obtundation status",322,3,"0.6649472954377083"]
["C2748541","Brugada Syndrome 5",320,3,"1.0"]
["C3809311","ATRIAL FIBRILLATION, FAMILIAL, 13",320,3,"1.0"]
["C4479236","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52",320,3,"1.0"]
["C1853345","Generalized Epilepsy With Febrile Seizures Plus, Type 4",319,3,"0.9558758559257231"]
["C1858672","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1",319,3,"0.9464101330517022"]
["C3151191","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8",319,3,"0.9558758559257231"]
["C0432228","Brachyolmia",313,3,"0.22708228605698963"]
["C2748516","Spondylodysplasia And Premature Pubarche",313,3,"0.6931382138489248"]
["C2748518","Lumbar scoliosis",313,3,"0.5772452536497906"]
["C0342471","3 beta-Hydroxysteroid dehydrogenase deficiency",312,3,"0.6700896823125848"]
["C0342541","Precocious pubarche",312,3,"0.4262996437255822"]
["C2931782","Adrenal hyperplasia 2",312,3,"0.6337934929664646"]
["C1852093","Maturity-Onset Diabetes of the Young, Type 1",311,3,"1.0"]
["C4014962","FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG",311,3,"1.0"]
["C4274078","Hyperinsulinism due to HNF4A deficiency",311,3,"1.0"]
["C1709353","Osteofibrous Dysplasia",310,3,"0.996624613942208"]
["C1836723","Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum",310,3,"0.998311106158486"]
["C4084709","DEAFNESS, AUTOSOMAL RECESSIVE 97",310,3,"0.998311106158486"]
["C0019372","Herpesviridae Infections",303,3,"0.5875335653359417"]
["C0032768","Postherpetic neuralgia",303,3,"0.20024155161505422"]
["C0037140","B Virus Infection",303,3,"0.5876875690390145","Certain infectious and parasitic diseases"]
["C1858804","Cerebellar Ataxia, Deafness, and Narcolepsy",301,3,"0.8967891029535924"]
["C3279885","Hereditary Sensory and Autonomic Neuropathy Type Ie",301,3,"0.7563388748600754"]
["C3807295","CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT",301,3,"0.8967891029535924"]
["C0796122","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome",300,3,"0.027748819518484326"]
["C1850055","PEHO syndrome",300,3,"0.6749860521893507"]
["C1850056","PEHO-Like Syndrome",300,3,"0.49005040257170007"]
["C1835896","SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)",299,3,"0.6808805813098968"]
["C3280168","NEUROPATHY, HEREDITARY SENSORY, TYPE IIC",299,3,"0.1466285677888863"]
["C3280283","MENTAL RETARDATION, AUTOSOMAL DOMINANT 9",299,3,"0.5955823061584353"]
["C1839602","Neuropathy, Hereditary Sensory, X-Linked",297,3,"1.0"]
["C1842586","Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux",297,3,"1.0"]
["C1850384","Neuropathy, Hereditary Sensory, Atypical",297,3,"1.0"]
["C0020072","Hereditary Sensory Autonomic Neuropathy, Type 2",293,3,"0.1665593429679447"]
["C0751540","Morvan\\'s Disease",293,3,"0.7890591451917791"]
["C2752089","Neuropathy, Hereditary Sensory And Autonomic, Type IIA",293,3,"0.8164981058006441"]
["C0027889","Hereditary Sensory and Autonomic Neuropathies",292,3,"0.8924058180050941"]
["C0086405","Hereditary Sensory Radicular Neuropathy",292,3,"0.9393749961507323"]
["C0699739","Sensory Neuropathy, Hereditary",292,3,"0.9369114697177707"]
["C0242343","Panhypopituitarism",284,3,"0.25290714974271833","Endocrine, nutritional and metabolic diseases"]
["C0878683","Pituitary Dwarfism Type 3",284,3,"0.7666949360137796"]
["C3875161","Anterior pituitary hormone deficiency",284,3,"0.7666949360137796"]
["C0271623","Hypogonadotropic hypogonadism",277,3,"0.6029708714814569","Endocrine, nutritional and metabolic diseases"]
["C0948896","Primary hypogonadism",277,3,"0.5207683226051136"]
["C3489396","Hypogonadism, Isolated Hypogonadotropic",277,3,"0.6868417857039673"]
["C0162809","Kallmann Syndrome",275,3,"0.2354407794532236","Endocrine, nutritional and metabolic diseases"]
["C0342384","Idiopathic hypogonadotropic hypogonadism",275,3,"0.17421961945359982"]
["C4025821","Anterior hypopituitarism",275,3,"0.35529975515849843"]
["C1563719","Kallmann Syndrome 1",274,3,"0.8260913213570108"]
["C1563720","Kallmann Syndrome 2 (disorder)",274,3,"0.7166157684464513"]
["C2930927","Kallmann syndrome, type 3, recessive",274,3,"0.8706618664931394"]
["C0269209","Hydrometrocolpos",272,3,"0.4693343490007862"]
["C0948368","Kaufman-McKusick syndrome",272,3,"0.8647560248903573"]
["C1858054","BARDET-BIEDL SYNDROME 6",272,3,"0.8647560248903573"]
["C1863370","Saethre-Chotzen Syndrome with Eyelid Anomalies",271,3,"1.0"]
["C1863371","BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY",271,3,"1.0"]
["C1867146","Robinow Sorauf syndrome",271,3,"1.0"]
["C0220658","Pfeiffer Syndrome",270,3,"0.7745559450328015"]
["C0795998","JACKSON-WEISS SYNDROME",270,3,"0.9006289212991047"]
["C2931888","Pfeiffer type acrocephalosyndactyly",270,3,"0.8952604070992595"]
["C0010930","Dacryocystitis",267,3,"0.7173204998084639","Diseases of the eye and adnexa"]
["C0265269","Lacrimoauriculodentodigital syndrome",267,3,"0.83971474009578"]
["C0948060","Iridocele",267,3,"0.8255745980932205"]
["C1969443","Trifunctional Protein Deficiency With Myopathy And Neuropathy",265,3,"0.8865844878766828"]
["C3711645","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",265,3,"0.5317326607238838"]
["C3714237","Trifunctional Protein Deficiency, Type 2",265,3,"0.8678642241619975"]
["C0149877","Hypoglycemic encephalopathy",264,3,"1.0"]
["C1291230","3-Hydroxyacyl-CoA Dehydrogenase Deficiency",264,3,"1.0"]
["C1864948","Hyperinsulinemic Hypoglycemia, Familial, 4",264,3,"1.0"]
["C0394005","Ataxic cerebral palsy",260,3,"0.9367837382438853","Diseases of the nervous system"]
["C3554449","MENTAL RETARDATION, AUTOSOMAL DOMINANT 19",260,3,"0.8375518442369936"]
["C4539767","EXUDATIVE VITREORETINOPATHY 7",260,3,"0.9367837382438853"]
["C0028326","Noonan Syndrome",256,3,"0.4801320632555392","Congenital malformations, deformations and chromosomal abnormalities"]
["C0041409","Turner Syndrome, Male",256,3,"0.5443515173677655"]
["C0175704","LEOPARD Syndrome",256,3,"0.01671163906746031"]
["C0587248","Costello syndrome (disorder)",255,3,"0.5118059736945881"]
["C1968782","MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES",255,3,"0.5709575120982178"]
["C2931658","Phacomatosis pigmentokeratotica",255,3,"0.32794193988558595"]
["C0362030","Verrucous epidermal nevus",253,3,"0.9441217923992417","Congenital malformations, deformations and chromosomal abnormalities"]
["C3179502","Linear Verrucous Epidermal Nevus",253,3,"0.9441217923992417"]
["C3854181","Nevus sebaceous",253,3,"0.8958054025810849"]
["C4085252","PAGET DISEASE OF BONE 3",250,3,"1.0"]
["C4225326","FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3",250,3,"1.0"]
["C4310693","NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET",250,3,"1.0"]
["C1963905","Infantile free sialic acid storage disease",249,3,"1.0"]
["C2930923","N-Acetylneuraminic acid storage disease",249,3,"1.0"]
["C2931872","Free sialic acid storage disease",249,3,"1.0"]
["C0238190","Inclusion Body Myositis (disorder)",246,3,"0.8502943431222536","Diseases of the nervous system"]
["C0751713","Inclusion Body Myopathy, Sporadic",246,3,"0.8178501771594706"]
["C2931471","Sialuria, French type",246,3,"0.7348478907662926"]
["C0005683","Urinary Bladder Calculi (disorder)",245,3,"0.967192906216238","Diseases of the genitourinary system"]
["C0559470","Allergy to peanuts",245,3,"0.938525446752615"]
["C2931037","Pancreatic cancer, adult",245,3,"0.9678068958674456"]
["C1840529","HOLOPROSENCEPHALY 3",238,3,"1.0"]
["C1968843","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)",238,3,"1.0"]
["C4274307","Hypoplastic tibia and postaxial polydactyly syndrome",238,3,"1.0"]
["C0022783","Vulvar Lichen Sclerosus",232,3,"0.7311292287761382","Diseases of the genitourinary system"]
["C0023652","Lichen Sclerosus et Atrophicus",232,3,"0.56220929744473","Diseases of the skin and subcutaneous tissue"]
["C0950124","Disease due to Papilloma virus",232,3,"0.43494557468927125"]
["C1832814","Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant",230,3,"1.0"]
["C3806402","EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION",230,3,"1.0"]
["C3806403","Continuous spike and waves during slow sleep",230,3,"1.0"]
["C0343047","Complement component 5 deficiency",226,3,"1.0","Diseases of the skin and subcutaneous tissue"]
["C3810402","ECULIZUMAB, POOR RESPONSE TO",226,3,"1.0"]
["C4024844","Generalized seborrheic dermatitis",226,3,"1.0"]
["C0010246","Coxsackievirus Infections",223,3,"0.39862949737194436","Certain infectious and parasitic diseases"]
["C0027059","Myocarditis",223,3,"0.31942533247535854","Diseases of the circulatory system"]
["C0869523","Carditis",223,3,"0.5032068956524463"]
["C0814154","Alcohol Related Neurodevelopmental Disorder",221,3,"0.8486389125937926"]
["C3146244","Alcohol Related Birth Defect",221,3,"0.7407461578940929"]
["C3661483","Partial Fetal Alcohol Syndrome",221,3,"0.8486389125937926"]
["C0796224","MENTAL RETARDATION, X-LINKED 18",220,3,"0.78215150987722"]
["C1845181","MENTAL RETARDATION, X-LINKED 78",220,3,"0.8695728429576005"]
["C2749022","Chromosome Xp11.23-P11.22 Duplication Syndrome",220,3,"0.8204539090657366"]
["C0432254","Singleton Merten syndrome",209,3,"0.7600865583783077"]
["C3888244","AICARDI-GOUTIERES SYNDROME 7",209,3,"0.652794315815637"]
["C4225427","SINGLETON-MERTEN SYNDROME 1",209,3,"0.8288622551983255"]
["C0456097","Congenital viral disease",207,3,"0.9610102910404928","Certain conditions originating in the perinatal period"]
["C2749659","AICARDI-GOUTIERES SYNDROME 5 (disorder)",207,3,"0.8979760796356823"]
["C3280721","CHILBLAIN LUPUS 2",207,3,"0.9610102910404928"]
["C0393591","AICARDI-GOUTIERES SYNDROME",205,3,"0.6241787237771206"]
["C0796126","AICARDI-GOUTIERES SYNDROME 1",205,3,"0.42574577341916303"]
["C3489724","Aicardi-Goutieres Syndrome 2",205,3,"0.6977862299461152"]
["C0752258","Position Sense Disorders",201,3,"0.999999999999999"]
["C0752261","Thermal Sensation Disorders",201,3,"0.999999999999999"]
["C0752262","Somatosensory Disorders",201,3,"0.999999999999999"]
["C1858915","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2",195,3,"0.548155529014253"]
["C2919166","Autosomal dominant focal segmental glomerulosclerosis",195,3,"0.6037754305541225"]
["C4049702","Focal Segmental Glomerulosclerosis, Not Otherwise Specified",195,3,"-0.09030889677372743"]
["C0410189","Muscular Dystrophy, Emery-Dreifuss",190,3,"0.888657806900844"]
["C0410190","Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)",190,3,"0.9219979767878843"]
["C1450051","Autosomal Recessive Emery-Dreifuss Muscular Dystrophy",190,3,"0.9330113838902901"]
["C0393665","Multiple Sclerosis, Chronic Progressive",187,3,"0.9389039000347364"]
["C3715156","AMYOTROPHIC LATERAL SCLEROSIS 20",187,3,"0.9389039000347364"]
["C3809469","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3",187,3,"0.7697707142525831"]
["C1833662","INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA",186,3,"0.6204925356583043"]
["C3151403","AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA",186,3,"0.8640737966493615"]
["C4225244","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y",186,3,"0.8640737966493615"]
["C0040560","Toxoplasmosis, Congenital",175,3,"1.0","Certain conditions originating in the perinatal period"]
["C2930826","Acute malaria",175,3,"1.0"]
["C3825986","Meningitis in children",175,3,"1.0"]
["C3151443","DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2",171,3,"1.0"]
["C3151444","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4",171,3,"1.0"]
["C3553617","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1",171,3,"1.0"]
["C0002390","Extrinsic allergic alveolitis",168,3,"0.5022046805190915","Diseases of the respiratory system"]
["C0034535","Radiation Syndrome",168,3,"0.7596362438178388"]
["C0242992","Multiple Chemical Sensitivity",168,3,"0.7596362438178388"]
["C0003969","Ascorbic Acid Deficiency",164,3,"0.9765319805014785","Endocrine, nutritional and metabolic diseases"]
["C3279786","ANHAPTOGLOBINEMIA",164,3,"0.9539726447270853"]
["C3279787","HYPOHAPTOGLOBINEMIA (disorder)",164,3,"0.9765319805014785"]
["C0022073","Iridocyclitis",149,3,"0.6198260193953813","Diseases of the eye and adnexa"]
["C2931171","Juvenile pauciarticular chronic arthritis",149,3,"0.6219893600950559"]
["C3714757","Juvenile rheumatoid arthritis",149,3,"0.2129721415189397","Diseases of the musculoskeletal system and connective tissue"]
["C0264969","Aneurysm of celiac artery",146,3,"1.0"]
["C0742747","High-output congestive heart failure",146,3,"1.0"]
["C4023119","Mesenteric artery aneurysm",146,3,"1.0"]
["C0029804","Other specified hemorrhagic conditions",143,3,"0.9684189356577974","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0340804","Hereditary vascular fragility",143,3,"0.9684189356577974","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1853278","Bleeding Disorder Due To P2RY12 Defect",143,3,"0.9372531601291544"]
["C1567742","Alport Syndrome, X-Linked",141,3,"-0.3049390079742015"]
["C1839884","Leiomyomatosis, esophageal and vulval, with nephropathy",141,3,"0.6352501632791394"]
["C3806737","DEAFNESS, X-LINKED 6",141,3,"0.329413822965663"]
["C0241908","Hematuria, Benign Familial",140,3,"0.8018572304406775"]
["C0403440","Thin basement membrane disease",140,3,"0.9441267341542892"]
["C2931253","Alport syndrome, dominant type",140,3,"0.9136226536756507"]
["C0027706","Hereditary nephritis",138,3,"0.9009773691641685"]
["C1567741","Alport Syndrome",138,3,"0.7988805988455528","Congenital malformations, deformations and chromosomal abnormalities"]
["C2931861","Hemorrhagic hereditary nephritis",138,3,"0.8231785223626339"]
["C0022336","Creutzfeldt-Jakob disease",131,3,"0.8940668586927207","Certain infectious and parasitic diseases"]
["C0376329","New Variant Creutzfeldt-Jakob Disease",131,3,"0.9620332197720126","Certain infectious and parasitic diseases"]
["C0751254","Creutzfeldt-Jakob Disease, Familial",131,3,"0.9593485969692891","Certain infectious and parasitic diseases"]
["C0035579","Rickets",126,3,"0.26626137724990145","Endocrine, nutritional and metabolic diseases"]
["C0221468","Vitamin D-dependent rickets",126,3,"0.5233397422833072","Endocrine, nutritional and metabolic diseases"]
["C0268689","Vitamin D-dependent rickets, type 1",126,3,"0.47259530911632874"]
["C0023283","Leishmaniasis, Cutaneous",123,3,"0.984115708481451","Certain infectious and parasitic diseases"]
["C0086540","Leishmaniasis, New World",123,3,"0.9930968578826108"]
["C0086541","Urban cutaneous leishmaniasis",123,3,"0.9930968578826108"]
["C0020445","Hypercholesterolemia, Familial",121,3,"0.4815862937096298","Endocrine, nutritional and metabolic diseases"]
["C0745103","Hyperlipoproteinemia Type IIa",121,3,"0.6081601822361881","Endocrine, nutritional and metabolic diseases"]
["C1704417","Hyperlipoproteinemia Type IIb",121,3,"0.4930349297917249","Endocrine, nutritional and metabolic diseases"]
["C0018203","Chronic granulomatous disease",113,3,"0.4519720367219861","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0023885","Liver Abscess",113,3,"0.8341606178449057","Diseases of the digestive system"]
["C0024205","Lymphadenitis",113,3,"0.8360195077066253","Diseases of the circulatory system"]
["C1837023","CATARACT, CONGENITAL, CERULEAN TYPE, 3",111,3,"1.0"]
["C3540850","CATARACT 4, MULTIPLE TYPES",111,3,"1.0"]
["C3888390","Cataract, Punctate, Progressive Juvenile-Onset",111,3,"1.0"]
["C0002631","Infection of amniotic cavity",110,3,"0.9940982941196048"]
["C0014179","Endometritis",110,3,"0.9940982941196048"]
["C1275592","Funisitis (disorder)",110,3,"0.9882767821066347"]
["C0157917","Pauciarticular juvenile rheumatoid arthritis",106,3,"0.31631902783291815","Diseases of the musculoskeletal system and connective tissue"]
["C0221052","Chronic berylliosis",106,3,"0.5959839981607429"]
["C3711850","Opticospinal Multiple Sclerosis",106,3,"0.7360209891352174"]
["C0014324","Entamoebiasis",100,3,"0.6206861661801247"]
["C0151332","Active tuberculosis",100,3,"0.2215154056623684"]
["C4316791","Entamoeba histolytica Infection",100,3,"0.6206861661801247","Certain infectious and parasitic diseases"]
["C0001828","Agricultural Workers\\' Diseases",97,3,"1.0"]
["C0019112","Hemorrhoids",97,3,"1.0","Diseases of the digestive system"]
["C0282550","Persian Gulf Syndrome",97,3,"1.0"]
["C0268742","Membranoproliferative Glomerulonephritis, Type I",95,3,"0.8444053026756673"]
["C0268743","Membranoproliferative Glomerulonephritis, Type II",95,3,"0.554673853317079"]
["C1720821","Membranoproliferative Glomerulonephritis, Type III",95,3,"0.8444619285475379"]
["C0149642","Cervical lymphadenitis",89,3,"0.7173049458911258"]
["C0149896","Primary gout",89,3,"0.7173049458911258","Diseases of the musculoskeletal system and connective tissue"]
["C3890737","Autoinflammatory Syndrome",89,3,"0.4265838371316969","Diseases of the musculoskeletal system and connective tissue"]
["C0267839","Hepatic amyloidosis",85,3,"0.9814759996404766"]
["C1275126","TNF receptor-associated periodic fever syndrome (TRAPS)",85,3,"0.949871358422345"]
["C1761613","Conjunctival hyperemia",85,3,"0.9814759996404766","Diseases of the eye and adnexa"]
["C0015974","Periodic fever",84,3,"0.3318934246371938"]
["C3889136","Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome",84,3,"0.6241137905432769"]
["C4268691","Tumor necrosis factor receptor associated periodic syndrome [TRAPS]",84,3,"0.4331845087088078","Diseases of the musculoskeletal system and connective tissue"]
["C0011633","Dermatomyositis",83,3,"0.5718077672974584","Diseases of the musculoskeletal system and connective tissue"]
["C0221056","Adult type dermatomyositis",83,3,"0.5984804031079543","Diseases of the musculoskeletal system and connective tissue"]
["C0263666","Dermatomyositis, Childhood Type",83,3,"0.47535481949850317","Diseases of the musculoskeletal system and connective tissue"]
["C0035457","Rhinitis, Allergic, Perennial",82,3,"0.9947189779434393","Diseases of the respiratory system"]
["C0036830","Serum Sickness",82,3,"0.9963898305130072","Injury, poisoning and certain other consequences of external causes"]
["C0342185","Hyperthyroxinemia, Familial Dysalbuminemic",82,3,"0.9944723965304038"]
["C0023348","Leprosy, Lepromatous",77,3,"0.6627451881489584","Certain infectious and parasitic diseases"]
["C0868908","Pancolitis",77,3,"0.8013174836134267"]
["C2314882","Reproductive tract infection",77,3,"0.8013174836134267"]
["C0543687","Thymic alymphoplasia",72,3,"0.6055891560499904","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1279481","X-Linked Combined Immunodeficiency Diseases",72,3,"0.8133923951653286"]
["C1845604","Recurrent bacterial meningitis",72,3,"0.7930087106074266"]
["C0003615","Appendicitis",68,3,"0.9963609431550348","Diseases of the digestive system"]
["C0729531","Viral respiratory infection",68,3,"0.9981758517332591"]
["C0854119","Ruptured Appendicitis",68,3,"0.9981758517332583"]
["C1863052","ALZHEIMER DISEASE, FAMILIAL, 1",65,3,"0.9389035465989464"]
["C1863053","Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy",65,3,"0.9798736161185492"]
["C3549448","ALZHEIMER DISEASE, PROTECTION AGAINST",65,3,"0.9798736161185492"]
["C0085220","Cerebral Amyloid Angiopathy",63,3,"0.5965361805447181","Diseases of the circulatory system"]
["C0338582","Sporadic Cerebral Amyloid Angiopathy",63,3,"0.316297840031178"]
["C2931784","Amyloid angiopathy",63,3,"0.155651481338334"]
["C0029400","Osteitis",60,3,"0.49661527345423834"]
["C0263680","Chronic arthritis",60,3,"0.6693095654728507"]
["C2936258","Peri-Implantitis",60,3,"0.6270184777239977"]
["C0029877","Ear Inflammation",57,3,"0.27129105829368555"]
["C0340170","Complicated pneumoconiosis",57,3,"0.20204941957775405"]
["C0699744","Infection of ear",57,3,"0.13495340606489006"]
["C0221033","Trisomy X syndrome",53,3,"0.9710134568384665","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265309","Leri-Weill dyschondrosteosis",53,3,"0.9415435385848181"]
["C0432230","Langer Mesomelic Dysplasia Syndrome",53,3,"0.9710134568384665"]
["C0836924","Thrombocytosis",48,3,"0.5811053997945733"]
["C4273671","Inherited predisposition to essential thrombocythemia",48,3,"0.5768411149998041"]
["C4303761","Familial thrombocytosis",48,3,"0.6496419973713721"]
["C0002351","Altitude Sickness",45,3,"1.0","Injury, poisoning and certain other consequences of external causes"]
["C2673187","Erythrocytosis, Familial, 4",45,3,"1.0"]
["C4045968","Altitude Hypoxia",45,3,"1.0"]
["C0002063","Alkalosis",40,3,"0.5576724577582384","Endocrine, nutritional and metabolic diseases"]
["C0597854","renin induced hypertension",40,3,"0.5829787159870976"]
["C1397307","Cardiac fibrosis",40,3,"0.48008148630983444"]
["C0338575","Sagittal Sinus Thrombosis",34,3,"1.0"]
["C0751823","Septic Phlebitis, Sagittal Sinus",34,3,"1.0"]
["C0751824","Sagittal Sinus Thrombophlebitis",34,3,"1.0"]
["C0030807","Pemphigus",30,3,"0.5529733602232959","Diseases of the skin and subcutaneous tissue"]
["C0030809","Pemphigus Vulgaris",30,3,"0.6900456234861895","Diseases of the skin and subcutaneous tissue"]
["C0263313","Pemphigus Foliaceus",30,3,"0.4657716333133965","Diseases of the skin and subcutaneous tissue"]
["C1332655","C3 DEFICIENCY",29,3,"1.0"]
["C1969651","Macular Degeneration, Age-Related, 9",29,3,"1.0"]
["C3151071","COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE",29,3,"1.0"]
["C0339143","Thyroid associated opthalmopathies",28,3,"0.8144355736424996"]
["C0376323","Congestive Ophthalmopathy",28,3,"0.8985996891795079"]
["C1563709","Myopathic Ophthalmopathy",28,3,"0.8985996891795079"]
["C0015814","Femur Head Necrosis",5,3,"0.6883967409699344"]
["C0410480","Avascular Necrosis of Femur Head",5,3,"0.7480952985238296"]
["C4479260","AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2",5,3,"0.5695994785299975"]
["C0000744","Abetalipoproteinemia",0,3,"0.621453160275549","Endocrine, nutritional and metabolic diseases"]
["C1970051","METABOLIC SYNDROME, PROTECTION AGAINST",0,3,"0.6496303960143336"]
["C2930930","Abdominal obesity metabolic syndrome",0,3,"0.18983250123983675"]
["C1850985","Fragile Site 16p12",2198,2,"1.0"]
["C3149276","CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB",2198,2,"1.0"]
["C0796218","MENTAL RETARDATION, X-LINKED 12",2196,2,"1.0"]
["C0796242","MENTAL RETARDATION, X-LINKED 35",2196,2,"1.0"]
["C0600336","Subcorneal pustular dermatosis",2195,2,"1.0","Diseases of the skin and subcutaneous tissue"]
["C1274167","IgA pemphigus",2195,2,"1.0"]
["C2749665","SPLIT-HAND/FOOT MALFORMATION 6 (disorder)",2194,2,"1.0"]
["C4310730","TOOTH AGENESIS, SELECTIVE, 8",2194,2,"1.0"]
["C0149756","Fasciitis, Plantar",2193,2,"1.0","Diseases of the musculoskeletal system and connective tissue"]
["C0158360","Fibromatosis, Plantar",2193,2,"1.0","Diseases of the musculoskeletal system and connective tissue"]
["C4014291","OOCYTE MATURATION DEFECT 1",2191,2,"0.8716015596375228"]
["C4540205","OOCYTE MATURATION DEFECT 3",2191,2,"0.8716012392107805"]
["C3810349","ALZHEIMER DISEASE 19",2190,2,"1.0"]
["C4540404","SPINOCEREBELLAR ATAXIA 46",2190,2,"1.0"]
["C0406468","Loose Anagen Hair Syndrome",2189,2,"1.0"]
["C0549150","Pseudofolliculitis barbae (disorder)",2189,2,"1.0","Diseases of the skin and subcutaneous tissue"]
["C0338650","Catatonia, Organic",2186,2,"1.0"]
["C0750992","Catatonia, Malignant",2186,2,"1.0"]
["C0029342","Orthomyxoviridae Infections",2185,2,"1.0"]
["C0276357","Swine influenza",2185,2,"1.0"]
["C1281440","Familial obesity",2184,2,"1.0"]
["C2937224","Constitutional obesity",2184,2,"1.0"]
["C0017980","Glycosuria, Renal",2183,2,"0.9999979019644125","Endocrine, nutritional and metabolic diseases"]
["C3245525","Familial renal glucosuria",2183,2,"0.9999979019244837"]
["C4304540","1q44 microdeletion syndrome",2182,2,"1.0"]
["C4479319","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54",2182,2,"1.0"]
["C0036093","Salivary Gland Diseases",2181,2,"1.0","Diseases of the digestive system"]
["C2752074","ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY",2181,2,"1.0"]
["C1836603","Foveal Hypoplasia and Anterior Segment Dysgenesis",2180,2,"1.0"]
["C3807873","FOVEAL HYPOPLASIA 2",2180,2,"1.0"]
["C1835845","Mitochondrial Phosphate Carrier Deficiency",2179,2,"1.0"]
["C4024201","Low-output congestive heart failure",2179,2,"1.0"]
["C1837822","Burn-Mckeown syndrome",2178,2,"0.4299153928408651"]
["C4225317","ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE",2178,2,"0.4299195452999688"]
["C1838867","PARKINSON DISEASE, MITOCHONDRIAL (disorder)",2177,2,"0.9470308055483151"]
["C1838876","MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE",2177,2,"0.9469383785689961"]
["C0553757","Olfaction Disorders",2176,2,"1.0"]
["C3888024","Cacosmia",2176,2,"1.0"]
["C4024944","Profound static encephalopathy",2175,2,"1.0"]
["C4225203","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2",2175,2,"1.0"]
["C4310663","SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED",2174,2,"1.0"]
["C4310664","SUDDEN CARDIAC FAILURE, INFANTILE",2174,2,"1.0"]
["C2677587","Cataract, Juvenile, With Microcornea And Glucosuria",2173,2,"1.0"]
["C4310806","CATARACT 47",2173,2,"1.0"]
["C1855055","Microcephaly with spastic quadriplegia",2172,2,"1.0"]
["C4538630","MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS",2172,2,"1.0"]
["C1970414","Osteogenesis Imperfecta, Type V",2171,2,"0.9597158449731907"]
["C2931093","Osteogenesis imperfecta, type 5",2171,2,"0.9596399497084112"]
["C3810160","SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE",2169,2,"1.0"]
["C3810161","SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT",2169,2,"1.0"]
["C1562113","Fleck corneal dystrophy",2168,2,"0.9947265327121563"]
["C4021857","Speckled corneal dystrophy",2168,2,"0.9949909177015215"]
["C0796133","Ramon Syndrome",2167,2,"1.0"]
["C1847197","Vascular Malformation, Primary Intraosseous",2167,2,"1.0"]
["C2931893","Lysosomal beta-mannosidase deficiency",2166,2,"1.0"]
["C4048196","beta-Mannosidosis",2166,2,"1.0"]
["C1832950","Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies",2165,2,"1.0"]
["C4225666","CHROMOSOME 15q14 DELETION SYNDROME",2165,2,"1.0"]
["C4310678","LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C4310682","INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA",2163,2,"1.0"]
["C3150154","CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB",2162,2,"1.0"]
["C3150701","CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB",2162,2,"1.0"]
["C4022537","Triangular tongue",2161,2,"1.0"]
["C4225192","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W",2161,2,"1.0"]
["C1856972","Encephaloclastic Proliferative Vasculopathy",2159,2,"1.0"]
["C3203738","Fowler syndrome",2159,2,"1.0"]
["C0796184","Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence",2158,2,"1.0"]
["C4085582","MENTAL RETARDATION, X-LINKED 102",2158,2,"1.0"]
["C1858717","Facial paresis, hereditary, congenital",2157,2,"1.0"]
["C3553625","FACIAL PARESIS, HEREDITARY CONGENITAL, 3",2157,2,"1.0"]
["C0268635","Acyl-CoA dehydrogenase deficiency",2156,2,"1.0"]
["C0342783","Deficiency of butyryl-CoA dehydrogenase",2156,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0751871","Autoimmune Diseases of the Nervous System",2155,2,"0.9999999999999996"]
["C0751872","Immune Disorders, Nervous System",2155,2,"0.9999999999999996"]
["C0002534","Renal Aminoacidurias",2154,2,"1.0"]
["C3151476","MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)",2154,2,"1.0"]
["C3280730","EPILEPSY, FAMILIAL TEMPORAL LOBE, 5",2153,2,"1.0"]
["C3280734","FEBRILE SEIZURES, FAMILIAL, 11",2153,2,"1.0"]
["C1970211","Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4",2151,2,"1.0"]
["C3809309","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C",2151,2,"1.0"]
["C1854150","Charcot-Marie-Tooth disease, Type 2B2",2150,2,"1.0"]
["C4225323","BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME",2150,2,"1.0"]
["C1832978","Deafness, Autosomal Recessive 7",2149,2,"1.0"]
["C1847626","Deafness, Autosomal Dominant 36",2149,2,"1.0"]
["C1832187","Deafness, Autosomal Dominant 12",2148,2,"1.0"]
["C1863655","Deafness, Autosomal Recessive 21",2148,2,"1.0"]
["C0220721","CATARACT 46, JUVENILE-ONSET",2147,2,"1.0"]
["C2931791","Cataract Hutterite type",2147,2,"1.0"]
["C0740895","Hypochloremic metabolic alkalosis",2145,2,"1.0"]
["C3151209","HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME",2145,2,"1.0"]
["C0473586","Michelin tire baby syndrome",2144,2,"0.8814101411188265"]
["C4014283","CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6",2144,2,"0.8804662006873856"]
["C0001127","Acidosis, Respiratory",2143,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C3553636","INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL",2143,2,"1.0"]
["C0796019","SPASTIC PARAPLEGIA 23 (disorder)",2142,2,"0.8416813321379341"]
["C1835826","Renal Hypodysplasia, Nonsyndromic, 1",2142,2,"0.843470952776807"]
["C0085423","Gram-Negative Bacterial Infections",2141,2,"0.9843319613353985"]
["C0085426","Gram-Positive Bacterial Infections",2141,2,"0.9849174799210693"]
["C3501611","Mental Retardation, X-Linked Nonsyndromic",2140,2,"1.0"]
["C4283894","MENTAL RETARDATION, X-LINKED 61",2140,2,"1.0"]
["C1845543","Mental Retardation, X-Linked, with Epilepsy",2137,2,"1.0"]
["C3806722","PARKINSONISM WITH SPASTICITY, X-LINKED",2137,2,"1.0"]
["C4539783","SPERMATOGENIC FAILURE 18",2136,2,"1.0"]
["C4539798","CILIARY DYSKINESIA, PRIMARY, 37",2136,2,"1.0"]
["C2751084","Cardiomyopathy, Dilated, 1CC",2134,2,"1.0"]
["C3151267","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20",2134,2,"1.0"]
["C2678475","Cardiomyopathy, Dilated, 1z",2133,2,"1.0"]
["C2750472","Cardiomyopathy, Familial Hypertrophic, 13",2133,2,"1.0"]
["C1839615","X-linked myopathy with excessive autophagy",2131,2,"0.9903106637522027"]
["C2931230","Vacuolar myopathy",2131,2,"0.9895726857970458"]
["C4225239","DESANTO-SHINAWI SYNDROME",2130,2,"1.0"]
["C4225431","CHROMOSOME 10p12-p11 DELETION SYNDROME",2130,2,"1.0"]
["C0268624","Sulfite oxidase deficiency",2129,2,"0.9893093759089648","Endocrine, nutritional and metabolic diseases"]
["C2931746","Sulfocysteinuria",2129,2,"0.990109539605322"]
["C1848097","Spondyloepimetaphyseal Dysplasia, X-Linked",2128,2,"1.0"]
["C4310811","MEESTER-LOEYS SYNDROME",2128,2,"1.0"]
["C0024054","Lown-Ganong-Levine Syndrome",2126,2,"1.0","Diseases of the circulatory system"]
["C0398581","T-cell lymphocytosis",2126,2,"1.0"]
["C1832476","Deafness, Autosomal Dominant 10",2125,2,"0.9865644592325299"]
["C1854368","Cardiomyopathy, Dilated, 1J",2125,2,"0.9865552441094666"]
["C0263912","Rotator cuff syndrome",2124,2,"0.6795023821736237","Diseases of the musculoskeletal system and connective tissue"]
["C3492944","Lentiginosis Profusa",2124,2,"0.6933365101845443"]
["C3150897","CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B",2123,2,"1.0"]
["C3151351","DEAFNESS, AUTOSOMAL RECESSIVE 89",2123,2,"1.0"]
["C0032460","Polycystic Ovary Syndrome",2122,2,"0.9395158416614797","Endocrine, nutritional and metabolic diseases"]
["C1136382","Sclerocystic Ovaries",2122,2,"0.9421739225207191"]
["C3808589","IMMUNODEFICIENCY 32A",2121,2,"1.0"]
["C4016741","IMMUNODEFICIENCY 32B",2121,2,"1.0"]
["C1837640","Deafness, Autosomal Dominant 28",2120,2,"1.0"]
["C4014987","ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME",2120,2,"1.0"]
["C0432194","Schneckenbecken dysplasia",2119,2,"0.3262710691706144"]
["C0432219","Opsismodysplasia",2119,2,"0.3232999312206658"]
["C0410214","Myopathy with Abnormal Lipid Metabolism",2118,2,"0.9946884290477531"]
["C4310822","LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY",2118,2,"0.9948979750248561"]
["C0684324","Deficiency of phosphoglycerate kinase",2116,2,"0.9996383171337129"]
["C1970848","Phosphoglycerate Kinase 1 Deficiency",2116,2,"0.9996382604847976"]
["C3150912","CONE-ROD DYSTROPHY 15",2114,2,"1.0"]
["C3552852","RETINITIS PIGMENTOSA 65",2114,2,"1.0"]
["C4310791","STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2",2112,2,"1.0"]
["C4310792","DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET",2112,2,"1.0"]
["C1839130","Dystonia 3, Torsion, X-Linked",2111,2,"0.999356305002102"]
["C4225418","MENTAL RETARDATION, X-LINKED, SYNDROMIC 33",2111,2,"0.9993562479327174"]
["C3810295","SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE",2110,2,"1.0"]
["C4014354","PONTOCEREBELLAR HYPOPLASIA, TYPE 9",2110,2,"1.0"]
["C3502075","Multiple Mitochondrial Dysfunctions Syndrome",2109,2,"0.3408546920892302"]
["C4225348","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4",2109,2,"0.6646486142146268"]
["C3809165","MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3",2108,2,"1.0"]
["C4225322","SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE",2108,2,"1.0"]
["C1864695","Giant Axonal Neuropathy, Autosomal Dominant",2107,2,"1.0"]
["C4013360","GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT",2107,2,"1.0"]
["C1846648","MICROCEPHALY, AMISH TYPE (disorder)",2106,2,"1.0"]
["C3150973","THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)",2106,2,"1.0"]
["C0398593","Specific granule deficiency",2105,2,"0.9882304956667116"]
["C4479548","SPECIFIC GRANULE DEFICIENCY 2",2105,2,"0.9882813290181003"]
["C1832215","Athabaskan brainstem dysgenesis",2102,2,"1.0"]
["C1832216","Bosley-Salih-Alorainy Syndrome",2102,2,"1.0"]
["C4310699","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24",2101,2,"0.9962469446876268"]
["C4310700","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44",2101,2,"0.9962356915624274"]
["C4022698","Acephalic spermatozoa",2100,2,"1.0"]
["C4310674","SPERMATOGENIC FAILURE 16",2100,2,"1.0"]
["C1855466","Hypomagnesemia 5, Renal, with Ocular Involvement",2099,2,"1.0"]
["C2931121","Meier Blumberg Imahorn syndrome",2099,2,"1.0"]
["C0010093","Corpus Luteum Cyst",2098,2,"0.9836629229790156","Diseases of the genitourinary system"]
["C0029927","Ovarian Cysts",2098,2,"0.9837079130887605","Diseases of the genitourinary system"]
["C1867332","Reticular Dystrophy Of Retinal Pigment Epithelium",2097,2,"1.0"]
["C4310680","RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES",2097,2,"1.0"]
["C0220730","Fryns syndrome",2092,2,"1.0"]
["C3279775","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1",2092,2,"1.0"]
["C4015172","SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY",2088,2,"1.0"]
["C4310776","RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS",2088,2,"1.0"]
["C0878676","6-pyruvoyl-tetrahydropterin synthase deficiency",2087,2,"0.9932553513975863"]
["C2678415","Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency",2087,2,"0.9936009327432678"]
["C1837830","Ulnar-Fibular Ray Defect and Brachydactyly",2086,2,"1.0"]
["C3150833","OCCULT MACULAR DYSTROPHY",2086,2,"1.0"]
["C1328339","Dennie-Morgan fold",2084,2,"1.0"]
["C2751321","Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis",2084,2,"1.0"]
["C1838603","Retinitis Pigmentosa 14",2082,2,"1.0"]
["C3151206","LEBER CONGENITAL AMAUROSIS 15",2082,2,"1.0"]
["C1855079","Microcephaly-Micromelia Syndrome",2080,2,"1.0"]
["C4539873","MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES",2080,2,"1.0"]
["C1321780","Hypomagnesmic tetany",2079,2,"0.9996802237891713"]
["C1865974","Hypomagnesemia 1, Intestinal",2079,2,"0.9996802261627306"]
["C1864827","HOLOPROSENCEPHALY 5",2077,2,"1.0"]
["C3711749","Nonsyndromic Holoprosencephaly",2077,2,"1.0"]
["C0521839","Influenza-like illness",2076,2,"1.0"]
["C3809543","CILIARY DYSKINESIA, PRIMARY, 22",2076,2,"1.0"]
["C1847352","POLYMICROGYRIA, BILATERAL FRONTOPARIETAL",2075,2,"1.0"]
["C3810405","POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE",2075,2,"1.0"]
["C1861821","CATARACT, MARNER TYPE",2074,2,"0.9822017501741636"]
["C3888417","CATARACT 5, MULTIPLE TYPES",2074,2,"0.9829326225666419"]
["C1865695","Spondylometaphyseal dysplasia, axial",2073,2,"1.0"]
["C4479651","RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA",2073,2,"1.0"]
["C0796074","MOHR-TRANEBJAERG SYNDROME",2072,2,"0.9883631571562841"]
["C1839564","Jensen syndrome",2072,2,"0.9883421480593605"]
["C4084821","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U",2070,2,"1.0"]
["C4225400","INTERSTITIAL LUNG AND LIVER DISEASE",2070,2,"1.0"]
["C0796254","DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES",2067,2,"1.0"]
["C4305134","Fried syndrome",2067,2,"1.0"]
["C1858517","SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1",2065,2,"1.0"]
["C4015349","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S",2065,2,"1.0"]
["C1853723","MYOPATHY, DISTAL 2",2064,2,"1.0"]
["C3807521","AMYOTROPHIC LATERAL SCLEROSIS 21",2064,2,"1.0"]
["C1838258","Osteopetrosis and infantile neuroaxonal dystrophy",2062,2,"1.0"]
["C1968603","Osteopetrosis, Autosomal Recessive 5",2062,2,"1.0"]
["C0700323","Observation of Neuromuscular Block",2060,2,"0.6894349436942794"]
["C1832918","Brody myopathy",2060,2,"0.6973798494469501"]
["C0028734","Nocturia",2058,2,"1.0","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C0342687","dopamine beta hydroxylase deficiency",2058,2,"1.0"]
["C1866294","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1",2056,2,"0.30910654440863017"]
["C3809845","EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2",2056,2,"0.3516426861351214"]
["C0796021","Lowry Wood syndrome",2055,2,"0.9720637539889441"]
["C1846059","Roifman syndrome",2055,2,"0.9721352099308407"]
["C2678051","MENTAL RETARDATION, X-LINKED 94 (disorder)",2054,2,"0.7491647573060469"]
["C2930868","Rasmussen subacute encephalitis",2054,2,"0.7504816360335764"]
["C3553816","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13",2053,2,"1.0"]
["C4521563","SPINOCEREBELLAR ATAXIA 44",2053,2,"1.0"]
["C2750090","Charcot-Marie-Tooth Disease, Axonal, Type 2n",2050,2,"1.0"]
["C4225361","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29",2050,2,"1.0"]
["C2675528","Spastic Paraplegia 42, Autosomal Dominant",2049,2,"1.0"]
["C3280965","CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION",2049,2,"1.0"]
["C3280036","MECKEL SYNDROME, TYPE 10",2048,2,"1.0"]
["C4539386","JOUBERT SYNDROME 34",2048,2,"1.0"]
["C2751686","Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1",2046,2,"1.0"]
["C3552634","LYMPHOPROLIFERATIVE SYNDROME 1",2046,2,"1.0"]
["C0175696","Congenital cleft larynx and Opitz-Frias syndrome",2045,2,"0.999716883875141"]
["C2936904","Opitz GBBB Syndrome, X-Linked",2045,2,"0.9997168324811812"]
["C0263532","Leukonychia punctata",2043,2,"1.0"]
["C3276977","LEUKONYCHIA STRIATUS",2043,2,"1.0"]
["C0345382","Gorlin Chaudhry Moss syndrome",2041,2,"1.0"]
["C2931653","Petty Laxova Wiedemann syndrome",2041,2,"1.0"]
["C1833154","Long Qt Syndrome 4",2040,2,"1.0"]
["C1970119","CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED",2040,2,"1.0"]
["C4015261","POLYENDOCRINE-POLYNEUROPATHY SYNDROME",2038,2,"1.0"]
["C4539881","DEAFNESS, AUTOSOMAL DOMINANT 71",2038,2,"1.0"]
["C3836857","MECKEL SYNDROME, TYPE 8",2037,2,"1.0"]
["C4084841","JOUBERT SYNDROME 24",2037,2,"1.0"]
["C1858133","Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive",2034,2,"1.0"]
["C1858142","ICHTHYOSIS, LAMELLAR, 3",2034,2,"1.0"]
["C0019693","HIV Infections",2033,2,"0.9449935927616423","Certain infectious and parasitic diseases"]
["C4505456","HIV Coinfection",2033,2,"0.947367065095419"]
["C1838239","Band Heterotopia of Brain",2032,2,"1.0"]
["C4284594","BAND HETEROTOPIA",2032,2,"1.0"]
["C0431375","Classical Lissencephaly",2030,2,"0.7887696427600918"]
["C1848201","Subcortical Band Heterotopia",2030,2,"0.7605430654819741"]
["C0265219","Miller Dieker syndrome",2029,2,"0.20526447708274642","Congenital malformations, deformations and chromosomal abnormalities"]
["C2750748","Chromosome 17p13.3 Duplication Syndrome",2029,2,"0.4345034462955695"]
["C1291316","Deficiency of reductase",2021,2,"1.0"]
["C1856127","Bile acid synthesis defect, congenital, 2",2021,2,"1.0"]
["C2675730","Deafness, Congenital, and Onychodystrophy, Autosomal Dominant",2018,2,"1.0"]
["C4225321","ZIMMERMANN-LABAND SYNDROME 2",2018,2,"1.0"]
["C0796013","Zimmerman Laband syndrome",2017,2,"0.39926088138061294"]
["C2678486","Temple-Baraitser Syndrome",2017,2,"0.7554025097520193"]
["C0342792","Succinyl-CoA:3-oxoacid CoA transferase deficiency",2016,2,"1.0"]
["C1291422","Deficiency of 3-oxoacid CoA-transferase",2016,2,"1.0"]
["C1858160","CRANIOSYNOSTOSIS, TYPE 2",2015,2,"0.9978615558475474"]
["C1868597","Parietal Foramina With Cleidocranial Dysplasia",2015,2,"0.9978613129092196"]
["C1839580","Nystagmus 1, congenital, X- linked",2012,2,"1.0"]
["C3151880","NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder)",2012,2,"1.0"]
["C1858535","MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder)",2011,2,"1.0"]
["C3501830","Microcephaly, Primary Autosomal Recessive, 2",2011,2,"1.0"]
["C0270857","Epilepsy, Reflex",2009,2,"0.9990926425026795"]
["C0342708","Gamma aminobutyric acid transaminase deficiency",2009,2,"0.9990927259983728","Endocrine, nutritional and metabolic diseases"]
["C1859301","Cerebellar hypoplasia with endosteal sclerosis",2008,2,"1.0"]
["C3280644","LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",2008,2,"1.0"]
["C2676243","Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism",2007,2,"0.5082118487962047"]
["C3502054","Leukodystrophy, Dysmyelinating, with Oligodontia",2007,2,"0.757689621871652"]
["C0451669","Neuropathy in association with hereditary ataxia",2005,2,"1.0","Diseases of the nervous system"]
["C1846574","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY",2005,2,"1.0"]
["C0342686","Aromatic amino acid decarboxylase deficiency",2004,2,"1.0"]
["C1291564","Deficiency of aromatic-L-amino-acid decarboxylase",2004,2,"1.0"]
["C0268263","Multiple Sulfatase Deficiency Disease",2001,2,"0.9982231939827975","Endocrine, nutritional and metabolic diseases"]
["C1720864","Sulfatidosis, Juvenile, Austin Type",2001,2,"0.9982229610230439"]
["C0242855","Congenital atresia of pulmonary valve",2000,2,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C1848392","Zunich neuroectodermal syndrome",2000,2,"1.0"]
["C0008029","Cherubism",1999,2,"0.9995212723671753","Diseases of the musculoskeletal system and connective tissue"]
["C0549122","Relative afferent pupillary defect",1999,2,"0.9995212584625025"]
["C3541319","SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY",1998,2,"1.0"]
["C3809651","INFANTILE LIVER FAILURE SYNDROME 2",1998,2,"1.0"]
["C0030804","Pemphigoid, Benign Mucous Membrane",1997,2,"0.9814673348542093","Diseases of the skin and subcutaneous tissue"]
["C1282359","Ocular Cicatricial Pemphigoid",1997,2,"0.9814338571820406"]
["C0339273","Corneal dystrophy, Lattice type 3",1996,2,"0.998272810175728"]
["C1641852","Gelatinous droplike corneal dystrophy",1996,2,"0.9983711423594059"]
["C1862871","ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS",1994,2,"0.8825437542729301"]
["C2745963","Kashin-Beck Disease",1994,2,"0.847930898647363","Diseases of the musculoskeletal system and connective tissue"]
["C3281066","USHER SYNDROME, TYPE IIIB",1993,2,"1.0"]
["C4225265","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W",1993,2,"1.0"]
["C0085635","Photopsia",1992,2,"1.0"]
["C4479481","RETINITIS PIGMENTOSA 78",1992,2,"1.0"]
["C1853162","Osteogenesis Imperfecta Type VII",1991,2,"1.0"]
["C2931095","Osteogenesis imperfecta, type 7",1991,2,"1.0"]
["C4310779","SPERMATOGENIC FAILURE 15",1990,2,"1.0"]
["C4310782","PREMATURE OVARIAN FAILURE 12",1990,2,"1.0"]
["C1963674","Spinocerebellar Ataxia 10",1989,2,"1.0"]
["C4275023","Spinocerebellar ataxia type 10",1989,2,"1.0"]
["C1858712","Spastic paraplegia 10, autosomal dominant",1985,2,"0.9927764183303074"]
["C4310658","MYOCLONUS, INTRACTABLE, NEONATAL",1985,2,"0.9930484671440507"]
["C0029408","Degenerative polyarthritis",1984,2,"0.9148291528771603","Diseases of the musculoskeletal system and connective tissue"]
["C0086743","Osteoarthrosis Deformans",1984,2,"0.9189154714954368"]
["C0037274","Dermatologic disorders",1983,2,"0.6442261808338544"]
["C0751851","Arsenic Encephalopathy",1983,2,"0.6537314301401983"]
["C0029574","Other dermatoses",1982,2,"0.8440259417961603"]
["C0037277","Skin Diseases, Genetic",1982,2,"0.7983028268075582"]
["C3281192","INFANTILE CEREBELLAR-RETINAL DEGENERATION",1981,2,"1.0"]
["C4225384","OPTIC ATROPHY 9",1981,2,"1.0"]
["C2676772","Microtia, Hearing Impairment, And Cleft Palate",1979,2,"1.0"]
["C3808166","MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT",1979,2,"1.0"]
["C0272173","Myelokathexis",1978,2,"0.9869468725933866"]
["C0472817","WHIM syndrome",1978,2,"0.9868611849893995"]
["C1859564","Bardet-Biedl syndrome 3",1977,2,"1.0"]
["C3150808","RETINITIS PIGMENTOSA 55",1977,2,"1.0"]
["C4310675","ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY",1975,2,"1.0"]
["C4316985","Cerebellar edema",1975,2,"1.0"]
["C4225177","SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1",1973,2,"1.0"]
["C4310736","MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE",1973,2,"1.0"]
["C1857013","Gingival hyperkeratosis",1972,2,"0.998982269880452"]
["C2700425","EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE",1972,2,"0.9989823434844238"]
["C0809936","Branchio-skeleto-genital syndrome",1971,2,"1.0"]
["C0877521","Chronic synovitis",1971,2,"1.0"]
["C0034341","Pyruvate Carboxylase Deficiency Disease",1970,2,"0.993600540131232","Endocrine, nutritional and metabolic diseases"]
["C2931141","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency",1970,2,"0.993735939153861"]
["C2931004","Congenital disorder of glycosylation type 1J",1969,2,"0.9517015578881153"]
["C3553645","MYASTHENIC SYNDROME, CONGENITAL, 13",1969,2,"0.9552197774138775"]
["C1864669","NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY",1968,2,"1.0"]
["C1864670","Neuronal Ceroid Lipofuscinosis, Congenital",1968,2,"1.0"]
["C3150899","PARKINSON DISEASE 5, AUTOSOMAL DOMINANT",1967,2,"1.0"]
["C3809665","SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE",1967,2,"1.0"]
["C2931461","Forney Robinson Pascoe syndrome",1966,2,"1.0"]
["C4310697","FRONTOMETAPHYSEAL DYSPLASIA 2",1966,2,"1.0"]
["C1832827","DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8",1964,2,"1.0"]
["C1854414","Deafness, Autosomal Recessive 10",1964,2,"1.0"]
["C1832525","Limb-girdle muscular dystrophy type 2F",1963,2,"1.0"]
["C1847667","CARDIOMYOPATHY, DILATED, 1L",1963,2,"1.0"]
["C0004681","Bagassosis",1961,2,"0.9994256019606058","Diseases of the respiratory system"]
["C0032273","Pneumoconiosis",1961,2,"0.9994266806185965","Diseases of the respiratory system"]
["C3892050","DEAFNESS, AUTOSOMAL RECESSIVE 102",1960,2,"0.9805792872846669"]
["C4022756","Profound hearing impairment",1960,2,"0.9758431221748454"]
["C1849762","Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia",1959,2,"0.95955161961288"]
["C2931006","Congenital disorder of glycosylation type 1L",1959,2,"0.9501930409186824"]
["C0149696","Food intolerance (disorder)",1958,2,"0.9600138021889058"]
["C1832736","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id",1958,2,"0.9492994318073418"]
["C0023890","Liver Cirrhosis",1957,2,"0.8876806404745305","Diseases of the digestive system"]
["C0239946","Fibrosis, Liver",1957,2,"0.8920036166681832","Diseases of the digestive system"]
["C3553230","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl",1956,2,"0.952300868513004"]
["C3809160","SHAHEEN SYNDROME",1956,2,"0.9517879856932137"]
["C0034951","Refractive Errors",1954,2,"0.6804215250225317","Diseases of the eye and adnexa"]
["C1527310","Ametropia",1954,2,"0.5606393009725587"]
["C0151638","Fanconi like syndrome",1953,2,"0.5124581254664818"]
["C3469542","FANCONI ANEMIA, COMPLEMENTATION GROUP P",1953,2,"0.45072110575490854"]
["C0265333","Tricho-dento-osseous syndrome (disorder)",1952,2,"0.9991431418579274"]
["C1863012","Amelogenesis Imperfecta, Type IV",1952,2,"0.999143106242231"]
["C1824925","DEAFNESS, AUTOSOMAL RECESSIVE 70",1951,2,"0.960444629476515"]
["C3554129","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13",1951,2,"0.9597183910999514"]
["C1842836","CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii",1950,2,"0.924289746628093"]
["C4015597","MYASTHENIC SYNDROME, CONGENITAL, 14",1950,2,"0.9351499839718267"]
["C3550904","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36",1949,2,"0.9992390690722684"]
["C4317295","Congenital disorder of glycosylation type 1s",1949,2,"0.9992388540617094"]
["C0027612","Congenital, Hereditary, and Neonatal Diseases and Abnormalities",1947,2,"0.9986497212960793"]
["C0349653","Congenital disorder of glycosylation type 1A",1947,2,"0.9986503979338139"]
["C0265342","Cerebrocostomandibular Syndrome",1946,2,"1.0"]
["C3501912","Cerebrocostomandibular-Like Syndrome",1946,2,"1.0"]
["C0006111","Brain Diseases",1945,2,"0.8224639816105657","Diseases of the nervous system"]
["C0085584","Encephalopathies",1945,2,"0.8326211128565733","Diseases of the nervous system"]
["C1838570","CEROID LIPOFUSCINOSIS, NEURONAL, 8",1940,2,"1.0"]
["C1864923","Northern epilepsy syndrome",1940,2,"1.0"]
["C0016756","Fructose-1,6-Diphosphatase Deficiency",1939,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C0019489","Deficiency, Hexosediphosphatase",1939,2,"1.0"]
["C1866257","Peroxisome Biogenesis Disorder, Complementation Group K",1938,2,"1.0"]
["C3554004","PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)",1938,2,"1.0"]
["C4083048","SPONDYLOCOSTAL DYSOSTOSIS 5",1934,2,"0.8079663270928997"]
["C4274761","Autosomal dominant spondylocostal dysostosis",1934,2,"0.8335519858943492"]
["C1852521","Spondylocostal Dysostosis 4, Autosomal Dominant",1932,2,"0.380214281887591"]
["C3150942","SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE",1932,2,"0.3203474161409904"]
["C1838571","Ceroid Lipofuscinosis, Neuronal, 7",1930,2,"1.0"]
["C4015371","MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT",1930,2,"1.0"]
["C1956147","Microlissencephaly",1929,2,"0.9547555487922657"]
["C3853041","Severe Congenital Microcephaly",1929,2,"0.9541942592022438"]
["C0086981","Sicca Syndrome",1926,2,"0.9467575625229624","Diseases of the musculoskeletal system and connective tissue"]
["C1527336","Sjogren\\'s Syndrome",1926,2,"0.9432344060561468","Diseases of the musculoskeletal system and connective tissue"]
["C0268623","Tyrosinemia, Type III",1924,2,"0.6640426899915856"]
["C2931042","Hawkinsinuria",1924,2,"0.8473911593225412"]
["C0268487","Tyrosine Transaminase Deficiency Disease",1923,2,"0.41790324966848885"]
["C4020911","Herpetiform corneal ulceration",1923,2,"0.7744797493416075"]
["C3150705","FOXG1 syndrome",1921,2,"1.0"]
["C4305240","14q12 microdeletion syndrome",1921,2,"1.0"]
["C2750787","Weill-Marchesani-Like Syndrome",1920,2,"0.4213937643958546"]
["C3554349","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9",1920,2,"0.4019411527173876"]
["C0018081","Gonorrhea",1919,2,"0.5986441114573859","Certain infectious and parasitic diseases"]
["C1855346","MAST SYNDROME",1919,2,"0.6836767688013844"]
["C1969644","Cataract, Cortical, Juvenile-Onset",1918,2,"1.0"]
["C3808107","CATARACT 33, MULTIPLE TYPES",1918,2,"1.0"]
["C0016037","Fibrodysplasia Ossificans Progressiva",1917,2,"0.937027148580973","Diseases of the musculoskeletal system and connective tissue"]
["C0027122","Myositis Ossificans",1917,2,"0.9541993806119232"]
["C1833503","Deafness, Autosomal Dominant 4",1916,2,"0.9463481327753556"]
["C3280556","PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS",1916,2,"0.9486011868150879"]
["C3554168","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14",1915,2,"0.9594478719131199"]
["C4310750","SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE",1915,2,"0.9595564828919343"]
["C1859486","BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY",1914,2,"0.9997984481822272"]
["C4024779","Marginal corneal dystrophy",1914,2,"0.9997988212639636"]
["C2936863","Bardet-Biedl syndrome 2 (disorder)",1912,2,"1.0"]
["C4225281","RETINITIS PIGMENTOSA 74",1912,2,"1.0"]
["C1876182","NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2",1911,2,"1.0"]
["C3151107","RETINITIS PIGMENTOSA 40 (disorder)",1911,2,"1.0"]
["C1859566","BARDET-BIEDL SYNDROME 8",1910,2,"1.0"]
["C3150715","RETINITIS PIGMENTOSA 51",1910,2,"1.0"]
["C1855305","Ter Haar syndrome",1908,2,"1.0"]
["C1859406","Borrone Di Rocco Crovato syndrome",1908,2,"1.0"]
["C0265267","Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects",1904,2,"1.0"]
["C3151781","CK SYNDROME",1904,2,"1.0"]
["C0432222","Spondyloenchondrodysplasia",1903,2,"0.9835121734415202"]
["C1842763","SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION",1903,2,"0.983559550712676"]
["C1969645","Ataxia, Spastic, 3, Autosomal Recessive",1899,2,"1.0"]
["C4225329","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25",1899,2,"1.0"]
["C1864870","Night Blindness, Congenital Stationary, Autosomal Dominant 3",1896,2,"1.0"]
["C4225345","NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G",1896,2,"1.0"]
["C0221237","Angular cheilitis",1894,2,"1.0","Diseases of the digestive system"]
["C4225381","PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS",1894,2,"1.0"]
["C1272352","Deficiency of vitamin D3",1891,2,"0.4400455048729931"]
["C1837028","Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive",1891,2,"0.3612019733411966"]
["C0342727","3-@METHYLGLUTACONIC ACIDURIA, TYPE I",1889,2,"1.0"]
["C0342728","3-Methylglutaconic aciduria type 1",1889,2,"1.0"]
["C1858916","DEAFNESS, AUTOSOMAL DOMINANT 16",1888,2,"1.0"]
["C1863561","Deafness, Autosomal Recessive 16",1888,2,"1.0"]
["C1970187","Deafness, Sensorineural, And Male Infertility",1887,2,"0.06999169869995521"]
["C2751811","Spermatogenic Failure 7",1887,2,"0.4389480052211166"]
["C4225337","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33",1886,2,"1.0"]
["C4225343","MENTAL RETARDATION, AUTOSOMAL DOMINANT 38",1886,2,"1.0"]
["C1832162","HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY",1885,2,"1.0"]
["C1857041","Ectodermal dysplasia, ectrodactyly, and macular dystrophy",1885,2,"1.0"]
["C0085399","Ehrlichiosis",1883,2,"1.0","Certain infectious and parasitic diseases"]
["C1842816","RETINITIS PIGMENTOSA 30",1883,2,"1.0"]
["C1319860","Sendai virus infection",1882,2,"0.5513291578680211"]
["C1558931","Flu-Like Syndrome Adverse Event",1882,2,"0.6429747773225882"]
["C1842691","Diaphanospondylodysostosis",1878,2,"1.0"]
["C4274732","Ischio-vertebral syndrome",1878,2,"1.0"]
["C0399440","Hereditary gingival fibromatosis",1877,2,"0.6875910300177901"]
["C1853120","Noonan Syndrome 4",1877,2,"0.6752545503675346"]
["C0022660","Kidney Failure, Acute",1876,2,"0.8447087633844594","Diseases of the genitourinary system"]
["C1565662","Acute Kidney Insufficiency",1876,2,"0.8547829598240153","Diseases of the genitourinary system"]
["C0004238","Atrial Fibrillation",1874,2,"0.8683421494761692"]
["C0235480","Paroxysmal atrial fibrillation",1874,2,"0.8719702774889155","Diseases of the circulatory system"]
["C3280452","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12",1873,2,"1.0"]
["C4015519","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28",1873,2,"1.0"]
["C0398564","Deficiency of adenylate kinase",1870,2,"1.0"]
["C2675459","Adenylate Kinase Deficiency, Hemolytic Anemia Due To",1870,2,"1.0"]
["C1859252","Cerebrofaciothoracic Dysplasia",1865,2,"1.0"]
["C1861101","THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT",1865,2,"1.0"]
["C0020097","HTLV-I Infections",1864,2,"0.5241517128506971"]
["C1260874","Infective dermatitis",1864,2,"0.6616355314469539","Diseases of the skin and subcutaneous tissue"]
["C1832828","Deafness, Autosomal Recessive 9",1863,2,"1.0"]
["C1832830","Auditory Neuropathy, Nonsyndromic Recessive",1863,2,"1.0"]
["C1852271","Auditory neuropathy",1862,2,"0.9014096531976238"]
["C2732267","Auditory neuropathy spectrum disorder",1862,2,"0.902617382239077"]
["C1704436","Peripheral Arterial Diseases",1860,2,"0.38424296801974117"]
["C4304539","20p12.3 microdeletion syndrome",1860,2,"0.3390729342062795"]
["C0035078","Kidney Failure",1855,2,"0.8635299904810517","Diseases of the genitourinary system"]
["C1565489","Renal Insufficiency",1855,2,"0.8665761554175141"]
["C0027707","Nephritis, Interstitial",1852,2,"0.8398477384762846","Diseases of the genitourinary system"]
["C0041349","Nephritis, Tubulointerstitial",1852,2,"0.8383100921802663","Diseases of the genitourinary system"]
["C3809824","PARKINSON DISEASE 20, EARLY-ONSET",1849,2,"1.0"]
["C4479313","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53",1849,2,"1.0"]
["C0751505","Insufficient Sleep Syndrome",1844,2,"1.0","Mental and behavioural disorders"]
["C0751506","REM Sleep Deprivation",1844,2,"1.0"]
["C3151056","SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE",1843,2,"0.8432220061304524"]
["C3489627","Stuttering, Familial Persistent 1",1843,2,"0.7064761515876242"]
["C2750246","Pitt-Hopkins-Like Syndrome 1",1842,2,"1.0"]
["C2910100","Arnold-Chiari syndrome, type IV",1842,2,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C0013386","Dyskinesia, Drug-Induced",1840,2,"0.9999999999999993"]
["C0751088","Dyskinesia, Medication-Induced",1840,2,"0.9999999999999993"]
["C0268464","Transient hyperphenylalaninemia",1839,2,"0.3363570533779135"]
["C1849700","Hyperphenylalaninemia with primapterinuria",1839,2,"0.6363952014527402"]
["C3151355","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A",1836,2,"1.0"]
["C3151356","MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION",1836,2,"1.0"]
["C1857977","MICROHYDRANENCEPHALY",1835,2,"1.0"]
["C3151461","LISSENCEPHALY 4",1835,2,"1.0"]
["C1857342","Deafness, Cochlear, with Myopia and Intellectual Impairment",1834,2,"1.0"]
["C3806275","DEAFNESS AND MYOPIA",1834,2,"1.0"]
["C0007787","Transient Ischemic Attack",1832,2,"0.8937841047069934","Diseases of the nervous system"]
["C0155728","Other specified transient cerebral ischemias",1832,2,"0.9204860580043087"]
["C0220992","Histidinemia",1830,2,"0.9486832980505138","Endocrine, nutritional and metabolic diseases"]
["C0268642","Histidinuria renal tubular defect",1830,2,"0.9250394364022063"]
["C2675186","LEBER CONGENITAL AMAUROSIS 13",1828,2,"0.9844482350661028"]
["C3150208","RETINITIS PIGMENTOSA 53",1828,2,"0.9844174981586188"]
["C0162635","Angelman Syndrome",1827,2,"0.7197637296674889","Congenital malformations, deformations and chromosomal abnormalities"]
["C2675336","Duplication 15q11-q13 Syndrome",1827,2,"0.7709402539260616"]
["C0155567","Rheumatic aortic stenosis",1824,2,"0.5919890323990766","Diseases of the circulatory system"]
["C2752027","Glycogen Storage Disease XIII",1824,2,"0.683645588723614"]
["C0011881","Diabetic Nephropathy",1823,2,"0.945906043363299"]
["C0017667","Nodular glomerulosclerosis",1823,2,"0.9508625822409741"]
["C0400966","Non-alcoholic Fatty Liver Disease",1822,2,"0.9651929936931013","Diseases of the digestive system"]
["C3241937","Nonalcoholic Steatohepatitis",1822,2,"0.966623355139347","Diseases of the digestive system"]
["C0043207","Wolfram Syndrome",1818,2,"0.7513327973335716"]
["C0348932","Other specified diabetes mellitus with unspecified complications",1818,2,"0.8854110834335897","Endocrine, nutritional and metabolic diseases"]
["C3532239","Mitochondrial cardiomyopathy",1816,2,"1.0"]
["C4310690","MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)",1816,2,"1.0"]
["C0016053","Fibromyalgia",1814,2,"0.5161249018598988","Diseases of the musculoskeletal system and connective tissue"]
["C0039494","Temporomandibular Joint Disorders",1814,2,"0.5291095572918165","Diseases of the musculoskeletal system and connective tissue"]
["C1858338","Neuropathy, hereditary motor and sensory, Okinawa type",1813,2,"1.0"]
["C3714897","SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE",1813,2,"1.0"]
["C3539920","ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1812,2,"0.9971926212392787"]
["C3541517","ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT",1812,2,"0.9973417841950787"]
["C3887494","ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE",1811,2,"0.9994934499475654"]
["C3888065","ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",1811,2,"0.9995101915154762"]
["C0162359","Christ-Siemens-Touraine syndrome",1810,2,"0.5853995365624985"]
["C1970757","Tooth Agenesis, Selective, X-Linked, 1",1810,2,"0.7769862003842246"]
["C3554687","IL21R IMMUNODEFICIENCY",1808,2,"1.0"]
["C3808820","Chronic hepatitis due to cryptospridium infection",1808,2,"1.0"]
["C3809356","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",1807,2,"1.0"]
["C3809369","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2",1807,2,"1.0"]
["C3275508","MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",1805,2,"1.0"]
["C3806670","PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1",1805,2,"1.0"]
["C0018824","Heart valve disease",1800,2,"0.468320665397619"]
["C0263628","Tumoral calcinosis",1800,2,"0.48046789900471765"]
["C0599973","Waardenburg Anophthalmia Syndrome",1799,2,"0.9351312529556339"]
["C1406717","Sirenomelia syndrome",1799,2,"0.9495614229796709","Congenital malformations, deformations and chromosomal abnormalities"]
["C0559469","Allergy to eggs",1798,2,"1.0"]
["C4015316","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27",1798,2,"1.0"]
["C3501647","Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to",1797,2,"1.0"]
["C4025283","Compensated hemolytic anemia",1797,2,"1.0"]
["C0022661","Kidney Failure, Chronic",1794,2,"0.5360408004329413","Diseases of the genitourinary system"]
["C2316810","Chronic kidney disease stage 5",1794,2,"0.5745825559846915","Diseases of the genitourinary system"]
["C0007786","Brain Ischemia",1793,2,"0.6809085728112937"]
["C0917798","Cerebral Ischemia",1793,2,"0.6621997163984837","Diseases of the circulatory system"]
["C1319853","Asthma, Aspirin-Induced",1792,2,"0.2500239883917431"]
["C1859648","Asthma, Nasal Polyps, And Aspirin Intolerance",1792,2,"0.41882975550370916"]
["C0011609","Drug Eruptions",1789,2,"0.9993937790815747"]
["C0406537","Morbilliform Drug Reaction",1789,2,"0.9993923656294573"]
["C0035305","Retinal Detachment",1787,2,"0.6122910704788862","Diseases of the eye and adnexa"]
["C0339546","Retinal Pigment Epithelial Detachment",1787,2,"0.6155897910275362"]
["C0494559","Diseases of inner ear",1786,2,"1.0","Diseases of the ear and mastoid process"]
["C1832425","Deafness, Autosomal Dominant 9",1786,2,"1.0"]
["C1839736","WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME",1785,2,"0.38895250259740616"]
["C3550903","CORNELIA DE LANGE SYNDROME 5",1785,2,"0.29742385892933076"]
["C0342684","Ocular albinism, type I",1782,2,"0.9779932789979267","Endocrine, nutritional and metabolic diseases"]
["C3151752","NYSTAGMUS 6, CONGENITAL, X-LINKED",1782,2,"0.9779609451758826"]
["C0020725","Type II Mucolipidosis",1781,2,"0.8444553521056336"]
["C0033788","Pseudo-Hurler Polydystrophy",1781,2,"0.9162207570366402"]
["C1848651","Al Awadi syndrome",1778,2,"1.0"]
["C1856728","Fuhrmann syndrome",1778,2,"1.0"]
["C1846529","CONE-ROD DYSTROPHY 10",1777,2,"1.0"]
["C1853214","RETINITIS PIGMENTOSA 35",1777,2,"1.0"]
["C1836916","POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA",1776,2,"1.0"]
["C1867923","Posterior column ataxia",1776,2,"1.0"]
["C0432328","Xeroderma pigmentosum, variant form",1773,2,"1.0"]
["C1848410","Xeroderma pigmentosum, variant type",1773,2,"1.0"]
["C0152915","Acute miliary tuberculosis",1772,2,"1.0","Certain infectious and parasitic diseases"]
["C4013949","IMMUNODEFICIENCY 30",1772,2,"1.0"]
["C1864861","Tumoral Calcinosis, Normophosphatemic, Familial",1770,2,"1.0"]
["C4284088","MIRAGE SYNDROME",1770,2,"1.0"]
["C0021831","Intestinal Diseases",1769,2,"0.16045635888817433","Diseases of the digestive system"]
["C0041582","Ulcer",1769,2,"0.30176868286225256"]
["C0154246","Urea Cycle Disorders, Inborn",1767,2,"0.6727826532070149","Endocrine, nutritional and metabolic diseases"]
["C0268542","Ornithine carbamoyltransferase deficiency",1767,2,"0.7308101652641853","Endocrine, nutritional and metabolic diseases"]
["C0267557","Secretory diarrhea",1766,2,"0.5275118889809377"]
["C2678346","Diarrhea 3, Secretory Sodium, Congenital, Syndromic",1766,2,"0.6741573365128385"]
["C0013363","Dysautonomia",1764,2,"0.6671654799032101"]
["C1145628","Autonomic nervous system disorders",1764,2,"0.3421901059201606","Diseases of the nervous system"]
["C0009782","Connective Tissue Diseases",1763,2,"0.5214293159438249"]
["C2676510","Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like",1763,2,"0.6105216851278129"]
["C1860405","Snowflake vitreoretinal degeneration",1762,2,"0.9991353388790598"]
["C3280062","LEBER CONGENITAL AMAUROSIS 16",1762,2,"0.9991355169469426"]
["C0021843","Intestinal Obstruction",1759,2,"0.4246850904909229","Diseases of the digestive system"]
["C1859047","CYSTIC FIBROSIS MODIFIER 1",1759,2,"0.5371449152882891"]
["C0002514","Amino Acid Metabolism, Inborn Errors",1758,2,"0.9997458193556344","Endocrine, nutritional and metabolic diseases"]
["C0750905","Amino Acid Metabolism, Inherited Disorders",1758,2,"0.9997457981809971"]
["C0005806","Blood Group Incompatibility",1757,2,"0.8117784679370667"]
["C0860218","ABO incompatibility",1757,2,"0.800208731510822"]
["C0010474","Curling Ulcer",1756,2,"0.9221385845809931"]
["C0013295","Duodenal Ulcer",1756,2,"0.9243479921850533","Diseases of the digestive system"]
["C0162533","Porphyrias, Hepatic",1755,2,"0.6533224288947128"]
["C0268328","Porphobilinogen synthase deficiency",1755,2,"0.7440070807168483"]
["C0026650","Movement Disorders",1754,2,"0.8255199927423146"]
["C0266487","Etat Marbre",1754,2,"0.8114893949278197"]
["C0005747","Blepharospasm",1749,2,"0.5636758404638886","Diseases of the nervous system"]
["C2930898","Benign essential blepharospasm",1749,2,"0.6380295298670042"]
["C3150801","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7",1744,2,"0.9405416247051087"]
["C3539506","SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE",1744,2,"0.9400269311959818"]
["C1855126","3-Methylglutaconic Aciduria Type IV",1743,2,"1.0"]
["C3279699","Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency",1743,2,"1.0"]
["C1409412","Periostosis",1741,2,"1.0"]
["C3280800","HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2",1741,2,"1.0"]
["C0029411","Osteoarthropathy, Primary Hypertrophic",1740,2,"0.9404728080691622","Diseases of the musculoskeletal system and connective tissue"]
["C2678439","CRANIOOSTEOARTHROPATHY",1740,2,"0.9528313186908645"]
["C1836173","Generalized Epilepsy and Paroxysmal Dyskinesia",1738,2,"0.9882001306649099"]
["C4539985","CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES",1738,2,"0.9881727607209994"]
["C0235222","Diastolic hypertension",1737,2,"0.324754344661128"]
["C1837739","Hypertension, Diastolic, Resistance to",1737,2,"0.5843464757410313"]
["C0393933","Pseudomyopathic myasthenia",1734,2,"1.0"]
["C3552335","MYASTHENIC SYNDROME, CONGENITAL, 12",1734,2,"1.0"]
["C0014867","Esophageal Varices",1733,2,"0.6350096126274755","Diseases of the circulatory system"]
["C0017145","Gastric Varix",1733,2,"0.6760817366349227","Diseases of the circulatory system"]
["C0149821","ACUTE ALCOHOL WITHDRAWAL",1731,2,"0.6741994823480865"]
["C3554691","HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2",1731,2,"0.6653230555327193"]
["C0018776","Hearing Loss, Central",1728,2,"0.9066214349850273","Diseases of the ear and mastoid process"]
["C0018780","Hearing Loss, High-Frequency",1728,2,"0.9075590849361765","Diseases of the ear and mastoid process"]
["C0039128","Syphilis",1727,2,"0.375610952098552","Certain infectious and parasitic diseases"]
["C4310772","NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART",1727,2,"0.32760471436713395"]
["C1969639","Cardiomyopathy, Dilated, 1w",1725,2,"1.0"]
["C2750459","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15",1725,2,"1.0"]
["C0948441","Venoocclusive disease",1724,2,"0.2574309206206856"]
["C1856128","Hepatic venoocclusive disease with immunodeficiency",1724,2,"0.4996618333864532"]
["C0270921","Axonal neuropathy",1720,2,"0.9135486148895609"]
["C1263857","Peripheral axonal neuropathy",1720,2,"0.9132666940481179"]
["C3810175","SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY",1719,2,"0.9962600971483832"]
["C4225342","RETINITIS PIGMENTOSA 71",1719,2,"0.9962491437281913"]
["C0265245","Nager syndrome",1718,2,"1.0"]
["C1860119","Acrofacial dysostosis Rodriguez type",1718,2,"1.0"]
["C0026769","Multiple Sclerosis",1715,2,"0.7674858034954587","Diseases of the nervous system"]
["C0751324","Multiple Sclerosis, Acute Fulminating",1715,2,"0.778939656277421"]
["C1857777","Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",1714,2,"0.995922424570712"]
["C2752072","Cardiomyopathy, Dilated, 1BB",1714,2,"0.9959411723834988"]
["C0162830","Dermatitis, Phototoxic",1711,2,"1.0"]
["C1527358","Phototoxicity",1711,2,"1.0"]
["C0220988","Xanthinuria",1706,2,"0.5009646902859035","Endocrine, nutritional and metabolic diseases"]
["C0268118","Xanthinuria, Type I",1706,2,"0.6855347482767011"]
["C1838656","Macrocytosis, Familial",1704,2,"1.0"]
["C4015537","THROMBOCYTOPENIA 5",1704,2,"1.0"]
["C1855255","Pseudoarylsulfatase A Deficiency",1700,2,"1.0"]
["C2713319","Arylsulfatase A Deficiency",1700,2,"1.0"]
["C0005741","Blepharitis",1695,2,"0.9999999999999978","Diseases of the eye and adnexa"]
["C0339063","Cellulitis of eyelid",1695,2,"0.9999999999999978"]
["C0238044","Concentric hypertrophic cardiomyopathy",1693,2,"0.5837644351220689"]
["C1864840","Combined Oxidative Phosphorylation Deficiency 3",1693,2,"0.65340542822658"]
["C1836474","SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7",1692,2,"1.0"]
["C1876161","CEROID LIPOFUSCINOSIS, NEURONAL, 2",1692,2,"1.0"]
["C4225313","BETHLEM MYOPATHY 2",1690,2,"1.0"]
["C4225314","ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2",1690,2,"1.0"]
["C0948245","Cytokine release syndrome",1689,2,"1.0"]
["C3150738","Antibody Deficiency due to Defect in CD19",1689,2,"1.0"]
["C0268595","Glutaric aciduria, type 1",1687,2,"0.9893526945350988","Endocrine, nutritional and metabolic diseases"]
["C4024972","Symmetrical progressive peripheral demyelination",1687,2,"0.9893212140445037"]
["C1832661","ANOPHTHALMIA AND PULMONARY HYPOPLASIA",1684,2,"0.9120110256532106"]
["C3540845","MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8",1684,2,"0.9287654057951159"]
["C3496228","Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia",1683,2,"1.0"]
["C3668943","Fatty Acid Hydroxylase-Associated Neurodegeneration",1683,2,"1.0"]
["C2748055","Hypoinsulinaemia (disorder)",1682,2,"1.0"]
["C4015710","TENORIO SYNDROME",1682,2,"1.0"]
["C1858677","LEBER CONGENITAL AMAUROSIS 3 (disorder)",1680,2,"1.0"]
["C2751780","Retinitis Pigmentosa, Juvenile, SPATA7-Related",1680,2,"1.0"]
["C1840284","LEBER CONGENITAL AMAUROSIS 11",1679,2,"1.0"]
["C1867299","Retinitis Pigmentosa 10",1679,2,"1.0"]
["C1833296","FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED",1678,2,"0.9968649047872081"]
["C1836076","Amyotrophic Lateral Sclerosis, Chmp2B-Related",1678,2,"0.9968617230359526"]
["C0342770","Fumarase deficiency",1677,2,"1.0"]
["C2936826","Fumaric aciduria",1677,2,"1.0"]
["C0268601","HMG CoA lyase deficiency",1674,2,"1.0"]
["C1533587","Hydroxymethylglutaric aciduria",1674,2,"1.0"]
["C0014394","Enuresis",1671,2,"0.20966635890501764","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C3554520","UROFACIAL SYNDROME 2",1671,2,"0.4159675632417093"]
["C1866259","Peroxisome Biogenesis Disorder, Complementation Group 13",1670,2,"0.7716336185757453"]
["C1866260","Peroxisome Biogenesis Disorder, Complementation Group H",1670,2,"0.8133352013030262"]
["C3554000","PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)",1669,2,"0.9012942939516393"]
["C3554001","PEROXISOME BIOGENESIS DISORDER 11B",1669,2,"0.8016209522598845"]
["C1859598","ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA",1668,2,"0.9091044112726661"]
["C4275170","Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1",1668,2,"0.9167319571695101"]
["C1864850","Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",1666,2,"1.0"]
["C4310824","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR",1666,2,"1.0"]
["C0034186","Pyelonephritis",1663,2,"0.30285387466687214","Diseases of the genitourinary system"]
["C1704315","Pyelonephritis acute necrotizing",1663,2,"0.5502878196598807"]
["C1858679","CATARACT, AUTOSOMAL DOMINANT",1658,2,"0.9880133262157748"]
["C3888098","Cataract, Autosomal Recessive Congenital 1",1658,2,"0.98816940786915"]
["C0342778","Ubiquinone dehydrogenase deficiency",1655,2,"0.8598979150097114"]
["C1852372","MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)",1655,2,"0.8806601599968179"]
["C1865951","Ectodermal Dysplasia, Pure Hair-Nail Type",1654,2,"0.40715337277170366"]
["C3554127","ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE",1654,2,"0.5632680307570415"]
["C0010403","Cryoglobulinemia",1653,2,"0.24848981498031333","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0341106","Eosinophilic esophagitis",1653,2,"0.324086979685759","Diseases of the digestive system"]
["C0748140","Multiple pulmonary infections",1650,2,"0.9706120916814711"]
["C0876973","Infectious disease of lung",1650,2,"0.9703796528996891"]
["C0022638","Ketosis",1647,2,"0.9934333057638904"]
["C0235430","Ketonemia",1647,2,"0.9934126622468727"]
["C0268147","Glycogen storage disease, type IX",1646,2,"0.7378631018942508"]
["C0543514","Glycogen Storage Disease IXB",1646,2,"0.8461458948653674"]
["C0221005","Mauriac\\'s syndrome",1645,2,"0.8881871104799041"]
["C2751643","Glycogen Storage Disease IXC",1645,2,"0.8640527458314086"]
["C3150754","GLYCOGEN STORAGE DISEASE XV",1643,2,"1.0"]
["C4015452","POLYGLUCOSAN BODY MYOPATHY 2",1643,2,"1.0"]
["C0008370","Cholestasis",1641,2,"0.5438031918208762","Diseases of the digestive system"]
["C1112213","Cholestasis in newborn",1641,2,"0.4534190889884303"]
["C0035869","Rotavirus Infections",1637,2,"0.2095573791608353"]
["C0267446","Acute gastroenteritis",1637,2,"0.42568256794379544"]
["C0268152","Classical galactosemia, homozygous Duarte-type",1636,2,"1.0"]
["C3278146","GALACTOSEMIA, DUARTE VARIANT",1636,2,"1.0"]
["C0026691","Mucocutaneous Lymph Node Syndrome",1628,2,"0.3142582999686687","Diseases of the musculoskeletal system and connective tissue"]
["C3150618","Maturity-onset diabetes of the young, type 11",1628,2,"0.32880966290534697"]
["C0410422","Chronic multifocal osteomyelitis",1627,2,"0.8912127658731991","Diseases of the musculoskeletal system and connective tissue"]
["C1864997","Majeed syndrome",1627,2,"0.8944311834842161","Diseases of the musculoskeletal system and connective tissue"]
["C0302809","Fulminant hepatitis",1626,2,"0.26984945370178737"]
["C1845076","Lymphoproliferative Syndrome, X-Linked, 2",1626,2,"0.637966903394934"]
["C1832998","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3",1624,2,"1.0"]
["C3152083","EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY",1624,2,"1.0"]
["C1845408","Contiguous Abcd1-Dxs1375e Deletion Syndrome",1623,2,"0.8377425196350115"]
["C3806634","DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION",1623,2,"0.8860174567657735"]
["C0162309","Adrenoleukodystrophy",1622,2,"0.9569988315289044","Endocrine, nutritional and metabolic diseases"]
["C1527231","Adrenomyeloneuropathy",1622,2,"0.9533318231224774","Endocrine, nutritional and metabolic diseases"]
["C0034069","Pulmonary Fibrosis",1621,2,"0.8183503591523228"]
["C0085786","Hamman-Rich syndrome",1621,2,"0.7686256632017731","Diseases of the respiratory system"]
["C0241984","Honeycomb lung",1620,2,"0.878243287721025"]
["C1800706","Idiopathic Pulmonary Fibrosis",1620,2,"0.8686501159010562","Diseases of the respiratory system"]
["C0006114","Cerebral Edema",1619,2,"0.6696084460855803","Diseases of the nervous system"]
["C1527311","Brain Edema",1619,2,"0.6891044518266577"]
["C1855923","Hyperphosphatasia with Mental Retardation",1617,2,"0.23977441429329463"]
["C3553637","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",1617,2,"0.4448050821973686"]
["C0272242","Complement deficiency disease",1616,2,"0.05908131845707539","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1864694","Complement Component 7 Deficiency",1616,2,"0.3791243296303916"]
["C2676767","CD59 Deficiency",1614,2,"0.9995880713125456"]
["C3872560","Acute vascular graft rejection",1614,2,"0.9995880480031659"]
["C2931618","Gestational trophoblastic disease",1613,2,"0.7667495765408541","Pregnancy, childbirth and the puerperium"]
["C3463897","HYDATIDIFORM MOLE, RECURRENT, 1",1613,2,"0.737995914660835"]
["C3502073","Woolly Hair, Autosomal Recessive",1611,2,"0.9824197758040908"]
["C4225214","WOOLLY HAIR, AUTOSOMAL RECESSIVE 3",1611,2,"0.9839865392557181"]
["C0018425","Gyrate Atrophy",1610,2,"0.9876021649742881"]
["C0599035","Hyperornithinemia",1610,2,"0.9874534102975732"]
["C0001125","Acidosis, Lactic",1608,2,"0.164081161727295","Endocrine, nutritional and metabolic diseases"]
["C0751651","Mitochondrial Diseases",1608,2,"0.25015204582021705"]
["C0042928","Vocal Cord Paralysis",1603,2,"0.9905396018702384"]
["C0086523","Laryngeal Paralysis",1603,2,"0.990510729046293","Diseases of the respiratory system"]
["C3553358","COENZYME Q10 DEFICIENCY, PRIMARY, 3",1602,2,"0.37791205537038886"]
["C3553374","COENZYME Q10 DEFICIENCY, PRIMARY, 5",1602,2,"0.3554669543959837"]
["C0011263","Multi-infarct dementia",1596,2,"0.8585264025832542"]
["C0011269","Dementia, Vascular",1596,2,"0.8364271396075592","Mental and behavioural disorders"]
["C1861106","Thyrotropin-Releasing Hormone Resistance, Generalized",1589,2,"1.0"]
["C4511136","Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency",1589,2,"1.0"]
["C0271789","Hypothyroidism, Congenital, Nongoitrous, 4",1588,2,"0.9986729298597603"]
["C4082174","Thyrotropin deficiency, isolated",1588,2,"0.9986728115370451"]
["C1836482","Li-Fraumeni Syndrome 2",1586,2,"0.32397109391295165"]
["C4280575","Progressive brain disease",1586,2,"0.09162557557979803"]
["C3151188","NEPHRONOPHTHISIS 9",1583,2,"1.0"]
["C3809434","RENAL-HEPATIC-PANCREATIC DYSPLASIA 2",1583,2,"1.0"]
["C3554235","JOUBERT SYNDROME 20",1580,2,"1.0"]
["C3809352","MECKEL SYNDROME, TYPE 11",1580,2,"1.0"]
["C3539071","NEPHRONOPHTHISIS 14",1579,2,"1.0"]
["C3553846","JOUBERT SYNDROME 19",1579,2,"1.0"]
["C0031485","Phenylketonurias",1576,2,"0.691260932900308"]
["C0085547","Phenylketonuria, Maternal",1576,2,"0.8294003068769695"]
["C1859311","Microphthalmia, Isolated, with Cataract 2",1573,2,"1.0"]
["C4225424","OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY",1573,2,"1.0"]
["C1857423","Cystic Kidney Disease with Ventriculomegaly",1572,2,"1.0"]
["C4015555","FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9",1572,2,"1.0"]
["C1853566","Genitopatellar Syndrome",1571,2,"1.0"]
["C1863557","Young Simpson syndrome",1571,2,"1.0"]
["C1846979","SENIOR-LOKEN SYNDROME 4",1570,2,"0.9262537993299472"]
["C1847013","NEPHRONOPHTHISIS 4",1570,2,"0.9313663750352317"]
["C0220687","KBG syndrome",1565,2,"1.0"]
["C4304594","16q24.3 microdeletion syndrome",1565,2,"1.0"]
["C0271907","Acquired aplastic anemia",1564,2,"0.2741952790412705"]
["C0744855","hepatitis immune",1564,2,"0.3134045287442611"]
["C0265226","Hecht syndrome (disorder)",1562,2,"0.9526626199813184"]
["C1837245","Carney Complex Variant",1562,2,"0.9618723633104617"]
["C0206172","Diabetic Foot",1560,2,"0.39158912583679123"]
["C3809536","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS",1560,2,"0.4825095762737312"]
["C0268583","Methylmalonic acidemia",1558,2,"0.9608221398238118","Endocrine, nutritional and metabolic diseases"]
["C1855119","Methylmalonic aciduria",1558,2,"0.9619595629354671"]
["C0574084","3-Methylglutaconic aciduria type 3",1557,2,"0.9397501253879379"]
["C1833809","OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT",1557,2,"0.9392460036585911"]
["C2751986","RETINITIS PIGMENTOSA 42",1553,2,"1.0"]
["C4310742","COLD-INDUCED SWEATING SYNDROME 3",1553,2,"1.0"]
["C0242994","Hantavirus Infections",1550,2,"0.3457132766276379","Certain infectious and parasitic diseases"]
["C1842362","HERMANSKY-PUDLAK SYNDROME 2",1550,2,"0.5288407959120289"]
["C1834690","Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant",1548,2,"1.0"]
["C3280220","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O",1548,2,"1.0"]
["C2675188","Kallmann Syndrome 6",1547,2,"1.0"]
["C3552574","HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA",1547,2,"1.0"]
["C1857720","KALLMANN SYNDROME 4 (disorder)",1546,2,"1.0"]
["C3552343","HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA",1546,2,"1.0"]
["C1969062","Cataract, Congenital Nuclear, Autosomal Recessive 3",1545,2,"1.0"]
["C3888124","CATARACT 17, MULTIPLE TYPES",1545,2,"1.0"]
["C0796085","Nance-Horan syndrome",1543,2,"1.0"]
["C2930878","Cataract, congenital, with microcornea or slight microphthalmia",1543,2,"1.0"]
["C0023240","Legionellosis",1541,2,"1.0"]
["C3809001","CATARACT 15, MULTIPLE TYPES",1541,2,"1.0"]
["C0392557","Nuclear cataract",1539,2,"0.9728213294750262"]
["C1112705","Nuclear non-senile cataract",1539,2,"0.9730895139831194"]
["C1861828","Cataract, Zonular Pulverulent 1",1538,2,"0.9995307914643872"]
["C1866984","Sclerocornea, Autosomal Dominant",1538,2,"0.9995339311877735"]
["C1845294","Ovarian Dysgenesis 2",1536,2,"1.0"]
["C1845295","Premature Ovarian Failure 4",1536,2,"1.0"]
["C3151402","CANDIDIASIS, FAMILIAL, 5",1535,2,"1.0"]
["C4310803","IMMUNODEFICIENCY 51",1535,2,"1.0"]
["C0006845","Candidiasis, Chronic Mucocutaneous",1533,2,"0.23869352491657703"]
["C0007971","Cheilitis",1533,2,"0.39024983625431026","Diseases of the digestive system"]
["C0015519","Factor X Deficiency",1531,2,"0.9791979989399117"]
["C2873787","Deficiency of factor X [Stuart-Prower]",1531,2,"0.9823409279708865","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0026267","Mitral Valve Prolapse Syndrome",1530,2,"0.15666223115234226"]
["C2930833","Irritable heart",1530,2,"0.4252120612102843"]
["C0024117","Chronic Obstructive Airway Disease",1529,2,"0.6912310300548151","Diseases of the respiratory system"]
["C1527303","Chronic Airflow Obstruction",1529,2,"0.7003753972171192"]
["C0151559","Central nervous system depression (disorder)",1527,2,"0.596908233595892"]
["C1837154","Drug Metabolism, Poor, CYP2D6-Related",1527,2,"0.5224912215605763"]
["C0392702","Abnormal involuntary movement",1526,2,"1.0","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C1860861","TREMOR, HEREDITARY ESSENTIAL, 1",1526,2,"1.0"]
["C0018801","Heart failure",1523,2,"0.966996233275587","Diseases of the circulatory system"]
["C0018802","Congestive heart failure",1523,2,"0.9664922736405422","Diseases of the circulatory system"]
["C0272167","Reticular dysgenesis",1521,2,"1.0"]
["C1282908","De Vaal\\'s syndrome",1521,2,"1.0"]
["C0220666","ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA",1519,2,"0.9267305730286896"]
["C1862472","Oculomelic amyoplasia",1519,2,"0.9171211486969697"]
["C0796033","MARDEN-WALKER SYNDROME",1518,2,"0.9387436551822557"]
["C4310692","ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH",1518,2,"0.9349076696179686"]
["C0026703","Mucopolysaccharidoses",1515,2,"0.545868066783563","Endocrine, nutritional and metabolic diseases"]
["C2749929","Musician\\'s Dystonia",1515,2,"0.6946182617384036"]
["C0004763","Barrett Esophagus",1513,2,"0.8713853434821535","Diseases of the digestive system"]
["C1258085","Barrett Epithelium",1513,2,"0.875585590888454"]
["C0877221","Decreased erythroid precursor production",1511,2,"1.0"]
["C2676137","Diamond-Blackfan Anemia 1",1511,2,"1.0"]
["C0019189","Hepatitis, Chronic",1508,2,"0.8377361268563314","Diseases of the digestive system"]
["C0149519","Chronic Persistent Hepatitis",1508,2,"0.8262575274558098"]
["C0520463","Chronic active hepatitis",1507,2,"0.7121785764455856"]
["C0524611","Cryptogenic Chronic Hepatitis",1507,2,"0.6128263576684341"]
["C0235812","Vitritis",1506,2,"0.5514805143348978"]
["C0796070","MICROPHTHALMIA, SYNDROMIC 7",1506,2,"0.7276080923947152"]
["C0003864","Arthritis",1503,2,"0.3662407056719722","Diseases of the musculoskeletal system and connective tissue"]
["C0162323","Polyarthritis",1503,2,"0.2836236717604402","Diseases of the musculoskeletal system and connective tissue"]
["C1843096","Acrocapitofemoral Dysplasia",1502,2,"0.8745123430081757"]
["C1862151","BRACHYDACTYLY, TYPE A1 (disorder)",1502,2,"0.8338650957052638"]
["C0235840","Neonatal diarrhea",1500,2,"0.9999999999999984","Certain conditions originating in the perinatal period"]
["C0495452","Noninfective neonatal diarrhea",1500,2,"0.9999999999999984","Certain conditions originating in the perinatal period"]
["C2750737","DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL",1499,2,"0.9992596970705808"]
["C4275062","Intestinal epithelial dysplasia",1499,2,"0.9992593093388547"]
["C0006266","Bronchial Spasm",1498,2,"1.0"]
["C1837371","Sudden Infant Death with Dysgenesis of the Testes Syndrome",1498,2,"1.0"]
["C0017658","Glomerulonephritis",1497,2,"0.7380938742347447","Diseases of the genitourinary system"]
["C1704377","Bright Disease",1497,2,"0.7126679898828584"]
["C3266102","Steroid resistant nephrotic syndrome of childhood",1495,2,"0.6802326706319196"]
["C3496337","Idiopathic Nephrotic Syndrome",1495,2,"0.5771009467274666"]
["C1271398","Pigment dispersion syndrome (disorder)",1492,2,"0.6484561206792332"]
["C1849409","Knobloch syndrome",1492,2,"0.6273885657702812"]
["C0008350","Cholelithiasis",1491,2,"0.49590903592182917","Diseases of the digestive system"]
["C0947622","Cholecystolithiasis",1491,2,"0.405946169327562"]
["C0268532","Deficiency of prolidase",1486,2,"1.0"]
["C1868496","Crusting erythematous dermatitis",1486,2,"1.0"]
["C0016977","Gall Bladder Diseases",1483,2,"0.33339552239079984","Diseases of the digestive system"]
["C3275124","Biliary System Disorder",1483,2,"0.4843113020635257"]
["C0751657","Nemaline Myopathy, Autosomal Recessive",1481,2,"0.9077958032644774"]
["C1850569","Nemaline Myopathy 2",1481,2,"0.9150206957111443"]
["C0494491","Mononeuropathies",1476,2,"0.8486055939681488","Diseases of the nervous system"]
["C4225318","EPILEPSY, FAMILIAL TEMPORAL LOBE, 8",1476,2,"0.8576804381377912"]
["C0398788","Immunodeficiency syndrome, variable",1474,2,"1.0"]
["C0494266","Other specified immunodeficiencies",1474,2,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0241423","Atrophy of tongue",1472,2,"0.06702470554463351","Diseases of the digestive system"]
["C3472711","Spinocerebellar ataxia 36",1472,2,"0.33752033883368693"]
["C0221260","Dystrophia unguium",1471,2,"0.3446832338711288","Diseases of the skin and subcutaneous tissue"]
["C1834405","Nail dysplasia",1471,2,"0.370343242850545"]
["C1853205","Glycosylphosphatidylinositol deficiency",1470,2,"0.44828598636543987"]
["C4014958","HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5",1470,2,"0.38532317021966167"]
["C0040147","Thyroiditis",1469,2,"0.42875706061568897","Endocrine, nutritional and metabolic diseases"]
["C0040558","Toxoplasmosis",1469,2,"0.5598850919242668","Certain infectious and parasitic diseases"]
["C1864498","RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE",1468,2,"0.9127374358139279"]
["C1864499","Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss",1468,2,"0.9148666212750591"]
["C0543669","Neutrophilia, Hereditary",1466,2,"1.0"]
["C4310764","NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE",1466,2,"1.0"]
["C3280155","MECKEL SYNDROME, TYPE 9",1463,2,"1.0"]
["C4310706","JOUBERT SYNDROME 27",1463,2,"1.0"]
["C0020494","Hyperostosis Frontalis Interna",1462,2,"1.0"]
["C0268425","Alstrom Syndrome",1462,2,"1.0"]
["C1834703","Neuropathy, Distal Hereditary Motor, Type VIIA",1461,2,"1.0"]
["C4310694","MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC",1461,2,"1.0"]
["C2986691","Inherited bone marrow failure syndrome",1458,2,"0.9380677966232861"]
["C4310744","BONE MARROW FAILURE SYNDROME 3",1458,2,"0.9364712329965857"]
["C1863924","Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome",1455,2,"0.362621624588031"]
["C4012727","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",1455,2,"0.6612955252399989"]
["C0431391","Hemimegalencephaly",1454,2,"0.39457423743753106"]
["C4014738","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2",1454,2,"0.6672655055693232"]
["C0340968","Deficiency of pyruvate kinase",1449,2,"1.0"]
["C1863224","Adenosine Triphosphate, Elevated, Of Erythrocytes",1449,2,"1.0"]
["C0023195","Lecithin Acyltransferase Deficiency",1445,2,"0.9993262229447796","Endocrine, nutritional and metabolic diseases"]
["C0342895","Fish-Eye Disease",1445,2,"0.9993261949557135"]
["C4225347","PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4",1444,2,"1.0"]
["C4225356","DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6",1444,2,"1.0"]
["C0406727","Orofaciodigital syndrome 4",1443,2,"1.0"]
["C3553758","JOUBERT SYNDROME 18",1443,2,"1.0"]
["C1858172","Deafness, Autosomal Dominant 20",1442,2,"1.0"]
["C3281235","BARAITSER-WINTER SYNDROME 2",1442,2,"1.0"]
["C1846331","Juvenile-onset dystonia",1441,2,"1.0"]
["C1858042","Becker Nevus Syndrome",1441,2,"1.0"]
["C0029429","Osteochondrosis",1440,2,"0.8069608419822124","Diseases of the musculoskeletal system and connective tissue"]
["C1855722","Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation",1440,2,"0.42585686664009964"]
["C3809454","HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1",1437,2,"1.0"]
["C4225398","CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY",1437,2,"1.0"]
["C3280526","ARTHROGRYPOSIS, DISTAL, TYPE 1B",1436,2,"0.9249505911485285"]
["C3554046","LETHAL CONGENITAL CONTRACTURE SYNDROME 4",1436,2,"0.9314737620755409"]
["C0014335","Enteritis",1434,2,"0.9879426557371656","Diseases of the digestive system"]
["C2677093","Inflammatory Bowel Disease 16",1434,2,"0.9879025609714773"]
["C0151718","Hypocholesterolemia",1433,2,"0.33012678812714935"]
["C1863551","HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3",1433,2,"0.19665291281432154"]
["C1335029","Non-Neoplastic Peripheral Nervous System Disorder",1430,2,"0.5023225742943741"]
["C3279662","Leukotriene C4 Synthase Deficiency",1430,2,"0.4994289514241443"]
["C1291312","Deficiency of oxidase",1429,2,"0.3943931652889704"]
["C1857252","2,4-Dienoyl-CoA Reductase Deficiency",1429,2,"0.3631631093253017"]
["C0034065","Pulmonary Embolism",1427,2,"0.6524673775362397","Diseases of the circulatory system"]
["C0524702","Pulmonary Thromboembolisms",1427,2,"0.6302504985902627"]
["C0403447","Chronic Kidney Insufficiency",1424,2,"0.5463277892484285","Diseases of the genitourinary system"]
["C1561643","Chronic Kidney Diseases",1424,2,"0.5495568407106833","Diseases of the genitourinary system"]
["C0268634","Disorder of fatty acid metabolism",1421,2,"0.4142135623730946","Endocrine, nutritional and metabolic diseases"]
["C1829703","Carnitine palmitoyl transferase 1A deficiency",1421,2,"0.688091627288736"]
["C0235831","Renal Cell Dysplasia",1419,2,"0.9997021305126301"]
["C1840333","Barakat syndrome",1419,2,"0.999702159679974"]
["C1827377","Slow acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8526657136218124"]
["C1827820","Fast acetylator due to N-acetyltransferase enzyme variant",1417,2,"0.8345100102085748"]
["C0028796","Dermatitis, Occupational",1416,2,"1.0"]
["C0086457","Industrial Dermatosis",1416,2,"1.0"]
["C0026780","Mumps",1414,2,"1.0","Certain infectious and parasitic diseases"]
["C1562585","Leprosy, Multibacillary",1414,2,"1.0"]
["C2674705","Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy",1413,2,"1.0"]
["C4310752","DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS",1413,2,"1.0"]
["C0271379","Convergence Insufficiency",1412,2,"1.0","Diseases of the eye and adnexa"]
["C1327918","Oculootoradial syndrome",1412,2,"1.0"]
["C0751084","Duane Retraction Syndrome, Type 3",1411,2,"0.9288851923516019"]
["C1623209","Okihiro Syndrome",1411,2,"0.870338528760967"]
["C0429468","Anovulatory (finding)",1406,2,"0.47168332213328373"]
["C1960447","Hypergonadotropic amenorrhea",1406,2,"0.7173063832417884"]
["C0272175","Immune neutropenia",1404,2,"0.6026267298452191"]
["C0272176","Alloimmune neonatal neutropenia",1404,2,"0.15755240005121957"]
["C0033770","Prune Belly Syndrome",1402,2,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C0265363","Urethral obstruction sequence",1402,2,"1.0"]
["C1858379","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)",1400,2,"0.9222963967124262"]
["C3553060","EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT",1400,2,"0.9200732965020476"]
["C0024141","Lupus Erythematosus, Systemic",1399,2,"0.6904219687182155","Diseases of the musculoskeletal system and connective tissue"]
["C0242380","Libman-Sacks Disease",1399,2,"0.7499467658043006","Diseases of the musculoskeletal system and connective tissue"]
["C2713442","Polyposis, Adenomatous Intestinal",1396,2,"0.9549088640514688"]
["C2713443","Familial Intestinal Polyposis",1396,2,"0.9677247120984537"]
["C0031115","Peripheral angiopathy in diseases classified elsewhere",1394,2,"0.6809517019828334"]
["C0750151","Vaso-Occlusive Crisis",1394,2,"0.7025588374726794"]
["C3808899","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4",1393,2,"0.9435324364824292"]
["C4015062","COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22",1393,2,"0.9438218026003791"]
["C2700431","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE",1392,2,"1.0"]
["C3276276","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1",1392,2,"1.0"]
["C0162835","Hypopigmentation disorder",1390,2,"0.2647585969412623"]
["C1855772","Absent corpus callosum cataract immunodeficiency",1390,2,"0.41660837285959146"]
["C0027609","Neonatal Abstinence Syndrome",1384,2,"1.0","Certain conditions originating in the perinatal period"]
["C1837893","SCHIZOPHRENIA 12",1384,2,"1.0"]
["C0011876","Diabetic cataract",1383,2,"0.6845916832455673"]
["C1514284","Potassium Deficiency Disorder",1383,2,"0.6915367632325774"]
["C0003949","Asbestosis",1382,2,"0.9807273029522207","Diseases of the respiratory system"]
["C2930617","Pulmonary Fibrosis - from Asbestos Exposure",1382,2,"0.9824692793094654"]
["C0752100","Autosomal Recessive Parkinsonism",1379,2,"0.27047966988755523"]
["C0752105","Parkinsonism, Juvenile",1379,2,"0.42568383807760807"]
["C1834144","Sick Sinus Syndrome 2, Autosomal Dominant",1375,2,"1.0"]
["C2751083","Brugada Syndrome 8",1375,2,"1.0"]
["C1853247","SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT",1373,2,"1.0"]
["C3553656","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB",1373,2,"1.0"]
["C0003257","Antibody Deficiency Syndrome",1372,2,"0.590638217785264"]
["C0021051","Immunologic Deficiency Syndromes",1372,2,"0.6290146726113154","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0393441","Chronic lymphocytic meningitis",1369,2,"0.952923294256496"]
["C2931418","Bare lymphocyte syndrome 2",1369,2,"0.9525422081042838"]
["C1611706","Myosclerosis",1367,2,"1.0"]
["C1850671","Myosclerosis, Autosomal Recessive",1367,2,"1.0"]
["C2937300","Congenital hereditary muscular dystrophy",1366,2,"1.0"]
["C4225336","DYSTONIA 27",1366,2,"1.0"]
["C0410179","Scleroatonic muscular dystrophy",1365,2,"0.9456440868800721"]
["C1834674","Bethlem myopathy",1365,2,"0.9603115178934493"]
["C0265252","Coffin-Lowry syndrome",1361,2,"0.8923440026191143"]
["C0796225","Mental Retardation, X-Linked 19",1361,2,"0.841870292427263"]
["C0019202","Hepatolenticular Degeneration",1359,2,"0.8322336301158125","Endocrine, nutritional and metabolic diseases"]
["C1527352","Hepatic Form of Wilson Disease",1359,2,"0.8498649569462582"]
["C0149516","Chronic sinusitis",1353,2,"0.9591948564626167","Diseases of the respiratory system"]
["C0748720","Chronic sinus disease",1353,2,"0.9595087421486806"]
["C0006271","Bronchiolitis",1352,2,"0.3312540847342675"]
["C1858266","Bare Lymphocyte Syndrome, Type I",1352,2,"0.24502772855938024"]
["C1840451","MULTICYSTIC RENAL DYSPLASIA, BILATERAL",1351,2,"0.8219941377015715"]
["C4048262","Hydronephrosis Due To Pujo",1351,2,"0.8913585667593398"]
["C0796081","Myhre syndrome",1346,2,"1.0"]
["C1832942","JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)",1346,2,"1.0"]
["C3714239","Bmpr1a-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C3714240","Smad4-Related Juvenile Polyposis",1344,2,"0.9999999999999948"]
["C1832940","JUVENILE POLYPOSIS OF STOMACH",1343,2,"0.9984685729766599"]
["C1868081","Juvenile Polyposis Coli",1343,2,"0.9984707150975516"]
["C0268414","Hyperphosphatasemia with bone disease",1342,2,"0.8634178441561433"]
["C0268531","Hydroxyprolinemia",1342,2,"0.8706604906880621","Endocrine, nutritional and metabolic diseases"]
["C0011875","Diabetic Angiopathies",1341,2,"0.850895393260987"]
["C0025945","Microangiopathy, Diabetic",1341,2,"0.8671675462631167"]
["C0040896","Trichinellosis",1338,2,"0.9676544328470965","Certain infectious and parasitic diseases"]
["C1854158","DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)",1338,2,"0.9605823048033109"]
["C0042847","Vitamin B 12 Deficiency",1337,2,"0.400561110536149","Endocrine, nutritional and metabolic diseases"]
["C3553915","METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE",1337,2,"0.5571722360340035"]
["C0037772","Spastic Paraplegia",1334,2,"0.47798398948065973"]
["C0037773","Spastic Paraplegia, Hereditary",1334,2,"0.5215643194282595","Diseases of the nervous system"]
["C0796032","Malpuech facial clefting syndrome",1333,2,"0.8704302610862289"]
["C4303860","Craniofacial ulnar renal syndrome",1333,2,"0.7276725189747749"]
["C0796059","Oculopalatoskeletal syndrome",1332,2,"0.6281914918572573"]
["C0796279","Carnevale syndrome",1332,2,"0.6570300110624726"]
["C0036305","Schamberg Disease",1331,2,"1.0"]
["C0549567","Pigmentation Disorders",1331,2,"1.0","Diseases of the skin and subcutaneous tissue"]
["C0271441","Chronic otitis media",1330,2,"0.9999999999999974","Diseases of the ear and mastoid process"]
["C0743359","Chronic ear infection",1330,2,"0.9999999999999974"]
["C0029443","Osteomyelitis",1329,2,"0.9832826353354623","Diseases of the musculoskeletal system and connective tissue"]
["C2242472","Infection of bone",1329,2,"0.9826623854653898","Diseases of the musculoskeletal system and connective tissue"]
["C0030469","Paranasal Sinus Diseases",1327,2,"0.42537582967904675"]
["C0037199","Sinusitis",1327,2,"0.5000930989680978","Diseases of the respiratory system"]
["C3809872","PERIVENTRICULAR NODULAR HETEROTOPIA 6",1325,2,"1.0"]
["C4304514","6q terminal deletion syndrome",1325,2,"1.0"]
["C0035372","Rett Syndrome",1323,2,"0.24929829845476545","Mental and behavioural disorders"]
["C2748910","Rett Syndrome, Atypical",1323,2,"0.46126776471057246"]
["C0345407","OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3",1321,2,"0.9978569697707201"]
["C1849435","Renal tubular acidosis, distal, type 3",1321,2,"0.9978561015033085"]
["C1568248","Usher Syndrome, Type III",1318,2,"0.7123887868143819"]
["C3280041","RETINITIS PIGMENTOSA 61",1318,2,"0.8064481575566744"]
["C0030246","Pustulosis of Palms and Soles",1315,2,"0.801619926146191","Diseases of the skin and subcutaneous tissue"]
["C0033860","Psoriasis",1315,2,"0.7984578066991369","Diseases of the skin and subcutaneous tissue"]
["C3806917","CRANIOSYNOSTOSIS 4",1314,2,"1.0"]
["C4310679","CHITAYAT SYNDROME",1314,2,"1.0"]
["C0085577","Normocytic anemia",1313,2,"0.43670068381445454"]
["C0235983","Normochromic anemia",1313,2,"0.43670068381445454"]
["C0268600","3-methylcrotonyl CoA carboxylase 1 deficiency",1311,2,"0.6074998856569657"]
["C4025020","Acute hepatic steatosis",1311,2,"0.6189166498244726"]
["C2748568","Immune dysfunction with T-cell inactivation due to calcium entry defect 1",1308,2,"1.0"]
["C4014557","MYOPATHY, TUBULAR AGGREGATE, 2",1308,2,"1.0"]
["C0152096","Complete trisomy 18 syndrome",1307,2,"0.26881218705235116"]
["C1863081","alpha-Fetoprotein Deficiency",1307,2,"0.5567876295644395"]
["C1865270","BARTTER SYNDROME, TYPE 4A",1306,2,"1.0"]
["C2748440","Sensorineural Deafness With Mild Renal Dysfunction",1306,2,"1.0"]
["C1846343","Bartter syndrome, type 3",1305,2,"1.0"]
["C1846344","Bartter Syndrome, Type 3, with Hypocalciuria",1305,2,"1.0"]
["C0348460","Other hyperaldosteronism",1303,2,"0.18878692946233366","Endocrine, nutritional and metabolic diseases"]
["C1866495","Bartter syndrome, antenatal type 1",1303,2,"0.21334010510510157"]
["C0004775","Bartter Disease",1302,2,"0.3649923921678137","Endocrine, nutritional and metabolic diseases"]
["C0740898","Hypokalemic metabolic alkalosis",1302,2,"0.45535063513060364"]
["C1859844","LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)",1300,2,"1.0"]
["C3151086","Retinitis Pigmentosa 20",1300,2,"1.0"]
["C0152443","Urethral diverticulum",1297,2,"1.0","Diseases of the genitourinary system"]
["C1859330","Cardiac Valvular Defect, Developmental",1297,2,"1.0"]
["C1857276","Trichohepatoenteric Syndrome",1295,2,"0.5561795928082592"]
["C3281289","TRICHOHEPATOENTERIC SYNDROME 2",1295,2,"0.5484954582860951"]
["C1859312","CAMFAK syndrome",1292,2,"1.0"]
["C2931277","Pena Shokeir syndrome Type 2",1292,2,"1.0"]
["C0020241","Hydroa Vacciniforme",1291,2,"0.9691996983110974"]
["C1833561","UV-Sensitive Syndrome",1291,2,"0.9663567408071206"]
["C1862511","ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)",1286,2,"1.0"]
["C3810012","RIENHOFF SYNDROME",1286,2,"1.0"]
["C1842124","BRANCHIOOTIC SYNDROME 3 (disorder)",1285,2,"1.0"]
["C1854594","DEAFNESS, AUTOSOMAL DOMINANT 23",1285,2,"1.0"]
["C1833691","Otofaciocervical Syndrome",1284,2,"0.9999999999999992"]
["C2931416","Fara Chlupackova syndrome",1284,2,"0.9999999999999992"]
["C1260894","Hypertrophic obesity",1282,2,"1.0"]
["C1864689","MICROPHTHALMIA, SYNDROMIC 6 (disorder)",1282,2,"1.0"]
["C1833563","Cleft Lip, Congenital Healed",1281,2,"0.8115500369799729"]
["C2677434","OROFACIAL CLEFT 11",1281,2,"0.446729525538831"]
["C0017155","Gastritis, Hypertrophic",1278,2,"0.6518707927038697","Diseases of the digestive system"]
["C0162770","Right Ventricular Hypertrophy",1278,2,"0.5484907317733222"]
["C0038454","Cerebrovascular accident",1277,2,"0.8584004616652123","Diseases of the circulatory system"]
["C0751956","Acute Cerebrovascular Accidents",1277,2,"0.868633949353947"]
["C0000809","Abortion, Habitual",1274,2,"0.45258826509498923"]
["C0004509","Azoospermia",1274,2,"0.17912247405891452","Diseases of the genitourinary system"]
["C0025281","Meniere Disease",1272,2,"0.5143358249322583","Diseases of the ear and mastoid process"]
["C1858725","NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1",1272,2,"0.44862484557843674"]
["C3148763","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E",1269,2,"0.8301178655397525"]
["C3501858","Muscular Dystrophy, Limb-Girdle, Type 1D",1269,2,"0.8973314765730086"]
["C0235574","Intravascular hemolysis",1267,2,"0.9827146256296009"]
["C0312854","Extravascular Hemolysis",1267,2,"0.9830977683208306"]
["C0024473","Magnesium Deficiency",1264,2,"0.8519725714103367","Endocrine, nutritional and metabolic diseases"]
["C1835171","Hypomagnesemia 2, renal",1264,2,"0.7928069214285572"]
["C0221018","Hereditary sideroblastic anemia",1263,2,"0.9963827441503526","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2677889","Protoporphyria, Erythropoietic, X-Linked Dominant",1263,2,"0.9963803420643061"]
["C4225425","ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY",1261,2,"0.6681844956895604"]
["C4274077","Autosomal recessive sideroblastic anemia",1261,2,"0.14426450077914602"]
["C1859722","Arthrogryposis renal dysfunction cholestasis syndrome",1255,2,"0.8186797869065376"]
["C3150672","ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2",1255,2,"0.8228974361357007"]
["C0027613","Neonatal hepatitis",1254,2,"0.9682043586549721"]
["C4020697","Giant cell hepatitis on liver biopsy",1254,2,"0.9674837487832815"]
["C1858328","Bile acid synthesis defect, congenital, 4",1253,2,"0.9984929899378958"]
["C3280428","Alpha-Methylacyl-CoA Racemase Deficiency",1253,2,"0.9984873102515498"]
["C0220765","Weaver-Like Syndrome",1251,2,"0.6898231103846117"]
["C0265210","Weaver syndrome",1251,2,"0.5050181380553252","Congenital malformations, deformations and chromosomal abnormalities"]
["C0175695","Sotos\\' syndrome",1250,2,"0.8131035803288529","Congenital malformations, deformations and chromosomal abnormalities"]
["C4304526","5q35 microduplication syndrome",1250,2,"0.8034306746759059"]
["C0432261","Osteopetrosis - intermediate type",1247,2,"0.7944092834839236"]
["C1969093","Osteopetrosis, Autosomal Recessive 6",1247,2,"0.85206035659522"]
["C1850126","Osteopetrosis, mild autosomal recessive form",1245,2,"0.8524958902742232"]
["C4025318","Chronic rhinitis due to narrow nasal airway",1245,2,"0.890626014422713"]
["C0242567","Opsoclonus",1243,2,"0.3372519244148038"]
["C0271344","Compression of optic nerve",1243,2,"0.4229168795649106","Diseases of the eye and adnexa"]
["C0686347","Tardive Dyskinesia",1242,2,"1.0","Diseases of the nervous system"]
["C3714760","Drug-induced tardive dyskinesia",1242,2,"1.0"]
["C0276501","Human immunodeficiency virus II infection",1241,2,"0.11505819125095162"]
["C1832097","EPIDERMAL DIFFERENTIATION COMPLEX",1241,2,"0.12157183903492909"]
["C0265110","Cerebral Vasospasm",1240,2,"0.856909349078789","Diseases of the nervous system"]
["C0751895","Vasospasm, Intracranial",1240,2,"0.8652807622200493"]
["C4225378","SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY",1239,2,"1.0"]
["C4540355","JOUBERT SYNDROME 31",1239,2,"1.0"]
["C4225252","IMMUNODEFICIENCY 45",1237,2,"0.7883097787584327"]
["C4225260","IMMUNODEFICIENCY 44",1237,2,"0.7751681058336038"]
["C0265961","Erythrokeratodermia variabilis",1235,2,"0.7027495107106456"]
["C1851480","Greither Disease",1235,2,"0.3866360885932889"]
["C2750475","Focal Segmental Glomerulosclerosis 5",1234,2,"1.0"]
["C3280845","CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E",1234,2,"1.0"]
["C1846790","JOUBERT SYNDROME 4 (disorder)",1232,2,"0.23264485185005987"]
["C1855681","Nephronophthisis, familial juvenile",1232,2,"0.2217510721279588"]
["C0403553","Renal dysplasia and retinal aplasia (disorder)",1231,2,"0.2364294037739996"]
["C0687120","Nephronophthisis",1231,2,"0.3691188545802995","Congenital malformations, deformations and chromosomal abnormalities"]
["C0022679","Cystic kidney",1229,2,"0.24890574427691486"]
["C3887499","Renal cyst",1229,2,"0.47156372814058795"]
["C1969052","MECKEL SYNDROME, TYPE 5",1226,2,"1.0"]
["C1969053","JOUBERT SYNDROME 7",1226,2,"1.0"]
["C0265215","Meckel-Gruber syndrome",1225,2,"0.3836049514725714","Congenital malformations, deformations and chromosomal abnormalities"]
["C1853235","Sclerocornea",1225,2,"0.5256736191656237"]
["C0013608","Edema, Cardiac",1220,2,"0.45302791324890707"]
["C0271287","Schnyder crystalline corneal dystrophy",1220,2,"0.5772606340568648"]
["C3150874","CRANIOECTODERMAL DYSPLASIA 2",1219,2,"0.9603897250236316"]
["C3279792","SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY",1219,2,"0.9599874819609588"]
["C2931218","Tetraamelia multiple malformations",1216,2,"1.0"]
["C4012268","TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE",1216,2,"1.0"]
["C0162530","Porphyria, Erythropoietic",1215,2,"0.9855544368743117","Endocrine, nutritional and metabolic diseases"]
["C2718078","Deficiency of Uroporphyrinogen III Synthase",1215,2,"0.9822748827213901"]
["C0265354","CHARGE Syndrome",1214,2,"0.9191471251905701"]
["C2936502","Familial CHARGE Syndrome",1214,2,"0.9003052600390744"]
["C2675302","KALLMANN SYNDROME 5 (disorder)",1213,2,"1.0"]
["C3552553","HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA",1213,2,"1.0"]
["C1970440","CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)",1212,2,"1.0"]
["C4225231","TOOTH AGENESIS, SELECTIVE, 7",1212,2,"1.0"]
["C2910126","Patent or persistent ostium secundum defect (type II)",1209,2,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C2910127","Patent or persistent sinus venosus defect",1209,2,"1.0","Congenital malformations, deformations and chromosomal abnormalities"]
["C0342803","Dihydropyrimidinase deficiency",1203,2,"0.8604144331357707"]
["C3495551","Dihydropyrimidinuria",1203,2,"0.712691386048266"]
["C3280679","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET",1202,2,"1.0"]
["C3541476","MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT",1202,2,"1.0"]
["C0018975","Hemeralopia",1200,2,"0.9034254333436456","Diseases of the eye and adnexa"]
["C3489704","Vision Disability",1200,2,"0.897731631073227"]
["C1843315","Neuronopathy, Distal Hereditary Motor, Type Viib",1197,2,"0.9960557128089368"]
["C1868594","Perry Syndrome",1197,2,"0.996062658039412"]
["C0016667","Fragile X Syndrome",1194,2,"0.6335297051664865","Congenital malformations, deformations and chromosomal abnormalities"]
["C0751156","FRAXA Syndrome",1194,2,"0.7758067151587146"]
["C0268296","17-Hydroxysteroid Dehydrogenase Deficiency",1191,2,"1.0"]
["C1849695","Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency",1191,2,"1.0"]
["C0019269","Hermaphroditism",1190,2,"0.9999999999999996"]
["C2930619","Sex Differentiation Disorders",1190,2,"0.9999999999999996"]
["C1301959","Bulbar weakness",1188,2,"0.8351462030862168"]
["C4082299","Bulbar palsy",1188,2,"0.6862034044571658"]
["C0751594","Zellweger-Like Syndrome",1184,2,"0.9527573024462028","Endocrine, nutritional and metabolic diseases"]
["C3658299","Zellweger Spectrum",1184,2,"0.9478241001090023"]
["C0043459","Zellweger Syndrome",1183,2,"0.34734100004186846","Endocrine, nutritional and metabolic diseases"]
["C0282527","Infantile Refsum Disease (disorder)",1183,2,"0.686536172588692","Diseases of the nervous system"]
["C0266427","Testicular regression syndrome",1179,2,"1.0"]
["C4510744","46,XY partial gonadal dysgenesis",1179,2,"1.0"]
["C1837805","Charcot-Marie-Tooth disease, axonal, Type 2G",1174,2,"1.0"]
["C3280797","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P",1174,2,"1.0"]
["C0751172","Adult Glycogen Storage Disease Type II",1170,2,"0.9999999999999943"]
["C0751174","Glycogen Storage Disease Type II, Juvenile",1170,2,"0.9999999999999943"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","Endocrine, nutritional and metabolic diseases"]
["C0020500","Hyperoxaluria",1165,2,"0.7050333460696698","Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified"]
["C1298681","Oxalosis",1165,2,"0.6996448578083098","Endocrine, nutritional and metabolic diseases"]
["C0268613","Disorder of sulfur-bearing amino acid metabolism",1164,2,"0.8385223249579978","Endocrine, nutritional and metabolic diseases"]
["C1847720","Glycine N-Methyltransferase Deficiency",1164,2,"0.6515407922638066"]
["C0521857","Increased drug resistance",1162,2,"1.0"]
["C4540293","IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA",1162,2,"1.0"]
["C0007196","Restrictive cardiomyopathy",1159,2,"0.4540983319334666","Diseases of the circulatory system"]
["C0348616","Other restrictive cardiomyopathy",1159,2,"0.7425494796420091","Diseases of the circulatory system"]
["C0342543","Central Precocious Puberty",1158,2,"0.25321663309340026","Endocrine, nutritional and metabolic diseases"]
["C0342544","Idiopathic central precocious puberty",1158,2,"0.5940290300661761"]
["C0268225","Aspartylglucosaminuria",1156,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C2931840","Aspartylglucosamidase (AGA) deficiency",1156,2,"1.0"]
["C0265239","Wildervanck\\'s syndrome",1155,2,"0.9734921881889739"]
["C0265264","Holt-Oram syndrome",1155,2,"0.969307644129151","Congenital malformations, deformations and chromosomal abnormalities"]
["C0042167","Uveitis, Posterior",1153,2,"0.8208703388738278"]
["C0264413","Late onset asthma",1153,2,"0.8130589681681095","Diseases of the respiratory system"]
["C1837454","SPINOCEREBELLAR ATAXIA 8",1149,2,"0.792991233447728"]
["C4275024","Spinocerebellar ataxia type 8",1149,2,"0.6578129948411049"]
["C0017668","Focal glomerulosclerosis",1140,2,"0.8517050394665021"]
["C0086432","Hyalinosis, Segmental Glomerular",1140,2,"0.8689859232727554"]
["C0011615","Dermatitis, Atopic",1139,2,"0.8144777005822401","Diseases of the skin and subcutaneous tissue"]
["C0086196","Eczema, Infantile",1139,2,"0.8337573830035265"]
["C0033817","Pseudomonas Infections",1136,2,"0.9736862246271955"]
["C0854135","Pseudomonas aeruginosa infection",1136,2,"0.970674399737973"]
["C0021847","Intestinal Pseudo-Obstruction",1124,2,"0.40317560541625125"]
["C0030446","Paralytic Ileus",1124,2,"0.5217970390924583","Diseases of the digestive system"]
["C0079588","Ichthyosis, X-Linked",1116,2,"0.8451197571048528","Congenital malformations, deformations and chromosomal abnormalities"]
["C2717836","Steroid Sulfatase Deficiency Disease",1116,2,"0.8718777664448114"]
["C1839071","Spermatogenic Failure, Nonobstructive, Y-Linked",1106,2,"0.4327609622978281"]
["C2931163","Male sterility due to Y-chromosome deletions",1106,2,"0.47755021174756546"]
["C1838429","Epiphyseal dysplasia, multiple, 2",1101,2,"1.0"]
["C3280342","STICKLER SYNDROME, TYPE V",1101,2,"1.0"]
["C0158252","Intervertebral disc disorder",1100,2,"0.9924896648170575"]
["C0221775","Lumbar disc disease",1100,2,"0.992695429962768"]
["C0027341","Nail-Patella Syndrome",1099,2,"0.919389630809904","Congenital malformations, deformations and chromosomal abnormalities"]
["C0403548","Salcedo syndrome",1099,2,"0.9160041630983684"]
["C3711376","Isodicentric Chromosome 15 Syndrome",1097,2,"0.4164850544134028"]
["C4310712","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43",1097,2,"0.1761085741518913"]
["C3810313","DOWLING-DEGOS DISEASE 4",1096,2,"1.0"]
["C4310660","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z",1096,2,"1.0"]
["C1865295","Auriculo-condylar syndrome",1095,2,"0.22596025311926737"]
["C3553404","AURICULOCONDYLAR SYNDROME 2",1095,2,"0.5800479358559968"]
["C2677338","Cardiomyopathy, Dilated, 1AA",1091,2,"1.0"]
["C4225403","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION",1091,2,"1.0"]
["C0343055","Generalized pustular psoriasis",1089,2,"0.573505897743746","Diseases of the skin and subcutaneous tissue"]
["C0392439","Acrodermatitis continua of Hallopeau",1089,2,"0.6034108222593161","Diseases of the skin and subcutaneous tissue"]
["C2350170","Unilateral Nasal Obstruction",1088,2,"1.0"]
["C2350171","Bilateral Nasal Obstruction",1088,2,"1.0"]
["C0008489","Chorea",1087,2,"0.5817541337085892","Diseases of the nervous system"]
["C4020858","Choreatic disease",1087,2,"0.797168543895444"]
["C0338488","Alternating hemiplegia of childhood",1079,2,"0.6273434351817281"]
["C1863062","Episodic quadriplegia",1079,2,"0.5435616645304149"]
["C1832567","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C",1074,2,"0.8855256294696279"]
["C1853698","Rippling muscle disease",1074,2,"0.7467506690198523"]
["C0268060","Juvenile hemochromatosis",1073,2,"0.7986019068876619"]
["C1865614","HEMOCHROMATOSIS, TYPE 2A",1073,2,"0.8448741067182745"]
["C3809606","EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17",1072,2,"0.8631453698009163"]
["C4479569","NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS",1072,2,"0.8886491791176292"]
["C0020617","Hypoglycemic coma",1067,2,"0.2767185585329721","Endocrine, nutritional and metabolic diseases"]
["C0877056","Hypoglycemic seizures",1067,2,"0.45881319750080485"]
["C0342273","Transient neonatal diabetes mellitus",1066,2,"0.8246488115177177"]
["C1832386","Diabetes Mellitus, Transient Neonatal, 1",1066,2,"0.8316720892040002"]
["C0342283","Hyperproinsulinemia",1065,2,"0.9358660774827217"]
["C3150617","Maturity-onset diabetes of the young, type 10",1065,2,"0.9507603149588209"]
["C0342277","Diabetes mellitus autosomal dominant type II (disorder)",1063,2,"0.6926347369662348"]
["C1865290","Hyperinsulinemic hypoglycemia, familial, 3",1063,2,"0.8545320016886053"]
["C1960469","Left ventricular noncompaction",1058,2,"0.5811015942894953"]
["C4021133","Left ventricular noncompaction cardiomyopathy",1058,2,"0.5235726950831312"]
["C0751544","Tangier Disease Neuropathy",1057,2,"1.0"]
["C3711531","Hdl Deficiency, Type 2",1057,2,"1.0"]
["C2931838","Familial HDL deficiency",1056,2,"0.8280244139256444"]
["C3165209","High density lipoprotein deficiency",1056,2,"0.6891325170057602","Endocrine, nutritional and metabolic diseases"]
["C0473527","Hypoalphalipoproteinemias",1055,2,"0.7017225025504562","Endocrine, nutritional and metabolic diseases"]
["C1704429","Hypoalphalipoproteinemia, Familial",1055,2,"0.38058472407812377"]
["C2674218","SPHEROCYTOSIS, TYPE 1 (disorder)",1051,2,"0.8284806172811159"]
["C4304505","8p11.2 deletion syndrome",1051,2,"0.8662695367980746"]
["C0037889","Hereditary spherocytosis",1050,2,"0.6852414685881622","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0221409","Anemia, hereditary spherocytic hemolytic",1050,2,"0.6685228857934489"]
["C1838854","DEAFNESS, AMINOGLYCOSIDE-INDUCED",1048,2,"0.6893385727415046"]
["C1857332","Deafness, Sensorineural, Autosomal-Mitochondrial Type",1048,2,"0.7184475353188565"]
["C1138434","Genetic Diseases, X-Linked",1045,2,"0.9979955756181758"]
["C1845202","Nephrogenic Syndrome of Inappropriate Antidiuresis",1045,2,"0.9979865472685258"]
["C0343386","Clostridium difficile infection",1044,2,"0.9744737905593374"]
["C1411966","Clostridium"]
["C0041364","Tumor Lysis Syndrome",1043,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C2955673","Urate nephropathy",1043,2,"1.0"]
["C0393706","Early infantile epileptic encephalopathy with suppression bursts",1042,2,"0.15288439742569668"]
["C2677326","Epileptic Encephalopathy, Early Infantile, 4",1042,2,"0.18722178804574632"]
["C0159020","Convulsions in the newborn",1034,2,"0.3782057960325707","Certain conditions originating in the perinatal period"]
["C0270851","Benign neonatal epilepsy",1034,2,"0.4698469608646147"]
["C2750027","Growth Hormone Deficiency With Pituitary Anomalies",1032,2,"1.0"]
["C2930844","Hypopituitarism and septooptic \\'dysplasia\\'",1032,2,"1.0"]
["C0263428","Burnett Schwartz Berberian syndrome",1028,2,"1.0"]
["C0263429","Atrophoderma vermiculatum",1028,2,"1.0","Diseases of the skin and subcutaneous tissue"]
["C0264353","Bronchomalacia",1026,2,"0.19227298951509444"]
["C0948187","Tracheomalacia",1026,2,"0.3873775046982396"]
["C0268297","Pseudovaginal Perineoscrotal Hypospadias",1025,2,"0.9998757866126227"]
["C3669122","5-Alpha Reductase Deficiency",1025,2,"0.9998754321102914"]
["C1856016","HYDROLETHALUS SYNDROME 1",1023,2,"0.9575637569876625"]
["C2931104","Hydrolethalus syndrome",1023,2,"0.9369279518870125"]
["C0796147","Acrocallosal Syndrome",1021,2,"0.4895975253313908"]
["C2931760","Acrocallosal syndrome, Schinzel type",1021,2,"0.709195590526204"]
["C1857627","Chorioretinal dystrophy",1018,2,"0.2991993329525742"]
["C1859305","Cerebellar Ataxia and Hypogonadotropic Hypogonadism",1018,2,"0.3802264064170639"]
["C0042454","Velopharyngeal Insufficiency",1017,2,"0.6347389149761102"]
["C4021592","Unilateral primary pulmonary dysgenesis",1017,2,"0.5543990106061871"]
["C0036508","Seborrheic dermatitis",1015,2,"0.9999999999999984","Diseases of the skin and subcutaneous tissue"]
["C3806554","Dysseborrheic dermatitis",1015,2,"0.9999999999999984"]
["C0012236","DiGeorge Syndrome",1014,2,"0.6871208872143547","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0220704","Shprintzen syndrome",1014,2,"0.6519669677491577","Congenital malformations, deformations and chromosomal abnormalities"]
["C1970253","Phosphoserine Aminotransferase Deficiency",1009,2,"1.0"]
["C4015019","NEU-LAXOVA SYNDROME 2",1009,2,"1.0"]
["C1859709","Kuskokwim disease",1007,2,"1.0"]
["C3151218","OSTEOGENESIS IMPERFECTA, TYPE XI",1007,2,"1.0"]
["C0012754","Distemper",1005,2,"1.0"]
["C3150807","ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1",1005,2,"1.0"]
["C0263449","Perioral Dermatitis",1004,2,"0.918465657485471","Diseases of the skin and subcutaneous tissue"]
["C3714948","PACHYONYCHIA CONGENITA 3",1004,2,"0.9199167778120383"]
["C1843815","Newfoundland Rod-Cone Dystrophy",1001,2,"1.0"]
["C1843816","Bothnia Retinal Dystrophy",1001,2,"1.0"]
["C0311338","Fundus Albipunctatus",1000,2,"0.9505547627879886"]
["C1405854","Retinitis punctata albescens (disorder)",1000,2,"0.9385325537583171"]
["C1275808","Congenital central hypoventilation",998,2,"0.9273624353488651"]
["C1859049","CCHS WITH HIRSCHSPRUNG DISEASE",998,2,"0.9315372975292895"]
["C1847849","ICHTHYOSIS, LAMELLAR, 5",997,2,"1.0"]
["C3539888","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3",997,2,"1.0"]
["C1855792","ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1",996,2,"0.47641291256428087"]
["C3888093","ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2",996,2,"0.692247960231774"]
["C4014414","MENTAL RETARDATION, AUTOSOMAL DOMINANT 24",992,2,"0.7739230884715675"]
["C4310683","DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER",992,2,"0.8463529097363073"]
["C3810283","SCHWANNOMATOSIS 2",991,2,"1.0"]
["C4225280","NOONAN SYNDROME 10",991,2,"1.0"]
["C3489795","Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant",989,2,"1.0"]
["C4014795","AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1",989,2,"1.0"]
["C2936739","Hyper-Immunoglobulin E Syndrome, Autosomal Dominant",988,2,"0.8035347859251691"]
["C3887645","Job Syndrome",988,2,"0.8884911700662292","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2750074","Rhabdoid Tumor Predisposition Syndrome 2",987,2,"0.7495043829608568"]
["C3553249","COFFIN-SIRIS SYNDROME 4",987,2,"0.47691184087043675"]
["C0022610","Kernicterus",980,2,"0.9641210995821964","Certain conditions originating in the perinatal period"]
["C0559506","Neonatal unconjugated hyperbilirubinemia",980,2,"0.9629535304817508"]
["C0268199","Familial apolipoprotein C-II deficiency",979,2,"0.8627265902538743"]
["C1720779","Apolipoprotein C-II Deficiency (disorder)",979,2,"0.8247343637361627"]
["C0221252","Eruptive xanthoma",976,2,"0.427639577192762"]
["C0339477","Lipidemia retinalis",976,2,"0.47861773183582307"]
["C0398568","Blood group deletion syndrome",973,2,"0.9820945760326656"]
["C3151853","MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE",973,2,"0.9819746152502863"]
["C0017605","Angle Closure Glaucoma",970,2,"0.7049276108717428"]
["C0017606","Primary angle-closure glaucoma",970,2,"0.6557167140677719","Diseases of the eye and adnexa"]
["C1834692","NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA",966,2,"1.0"]
["C1837552","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)",966,2,"1.0"]
["C3554428","OSTEOGENESIS IMPERFECTA, TYPE XIV",964,2,"0.654748724664011"]
["C3808844","OSTEOGENESIS IMPERFECTA, TYPE XV",964,2,"0.6333018672635082"]
["C1847640","KUFOR-RAKEB SYNDROME",962,2,"1.0"]
["C4310662","SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE",962,2,"1.0"]
["C0863106","Afebrile seizure",957,2,"0.3731672679933728"]
["C1848137","EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)",957,2,"0.5520448169819069"]
["C0339652","Vertical gaze palsy",955,2,"0.9999999999999996"]
["C1843369","Vertical supranuclear gaze palsy",955,2,"0.9999999999999996"]
["C1850363","Niemann-Pick Disease, Nova Scotian Type",954,2,"1.0"]
["C2231324","Brucellosis, Pulmonary",954,2,"1.0"]
["C0268247","Niemann-Pick Disease, Type D",953,2,"0.9418216662221809","Endocrine, nutritional and metabolic diseases"]
["C3179455","Niemann-Pick Disease, Type C1",953,2,"0.9006562328123827"]
["C0156344","Endometriosis of ovary",946,2,"0.4491920550752994","Diseases of the genitourinary system"]
["C3809250","ESTROGEN RESISTANCE",946,2,"0.6067590309594577"]
["C1855995","L-2-HYDROXYGLUTARIC ACIDURIA",943,2,"0.9931416788250078"]
["C3888081","L-2-hydroxyglutaric acidemia",943,2,"0.993142425952035"]
["C1845050","PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS",939,2,"0.9959023420551193"]
["C2936859","N syndrome",939,2,"0.9958996947077335"]
["C0796275","Brunner Syndrome",935,2,"1.0"]
["C1285261","Fetal Nutrition Disorders",935,2,"1.0"]
["C0001733","Afibrinogenemia",933,2,"0.6554836128881669"]
["C4316812","Fibrinogen Deficiency",933,2,"0.6957762381368489","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2608083","Cholestasis, benign recurrent intrahepatic 2",932,2,"0.9994309680168438"]
["C3489789","Cholestasis, Progressive Familial Intrahepatic, 2",932,2,"0.9994311095138338"]
["C3549845","CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1",931,2,"1.0"]
["C4025019","Intrahepatic cholestasis with episodic jaundice",931,2,"1.0"]
["C0745744","End Stage Liver Disease",928,2,"0.9250287157626629"]
["C2936476","Chronic Liver Failure",928,2,"0.9279305560035096","Diseases of the digestive system"]
["C3275685","MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2",927,2,"1.0"]
["C3275686","CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY",927,2,"1.0"]
["C0027873","Neuromyelitis Optica",925,2,"0.40583102635757823","Diseases of the nervous system"]
["C0270726","Alexander Disease",925,2,"0.36837119089455733"]
["C1970431","PITT-HOPKINS SYNDROME",922,2,"0.8575944635646416"]
["C2750451","CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3",922,2,"0.8738533871217715"]
["C0014457","Eosinophilia",919,2,"0.6902542488152188","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0014458","Eosinophilia, Tropical",919,2,"0.6779891694267985","Diseases of the respiratory system"]
["C0796063","microcephaly-digital anomalies syndrome",912,2,"0.7927535663257183"]
["C1847572","SECKEL SYNDROME 2",912,2,"0.6299330988745063"]
["C1842109","Microcephaly, Primary Autosomal Recessive, 6",911,2,"0.8011599094847872"]
["C3888212","SECKEL SYNDROME 4",911,2,"0.4686864890208793"]
["C3553582","SECKEL SYNDROME 6",910,2,"0.8360149084189106"]
["C3891452","SECKEL SYNDROME 8",910,2,"0.8086943833531022"]
["C0007930","Chagas Cardiomyopathy",909,2,"0.7229817457473199"]
["C0220991","Rotor Syndrome",909,2,"0.712365420338146","Endocrine, nutritional and metabolic diseases"]
["C0265224","Freeman-Sheldon syndrome",902,2,"0.6858280350952977","Congenital malformations, deformations and chromosomal abnormalities"]
["C1867440","Multiple Pterygium Syndrome, Autosomal Dominant",902,2,"0.6794168149742534"]
["C1280798","Von Willebrand disease, platelet type",901,2,"0.9773845974189364"]
["C3277076","BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT",901,2,"0.9772185373047375"]
["C1851413","EXOSTOSES, MULTIPLE, TYPE II",898,2,"1.0"]
["C4225248","SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME",898,2,"1.0"]
["C0796221","MENTAL RETARDATION, X-LINKED 15",890,2,"0.9946567719011925"]
["C3887959","MENTAL RETARDATION, X-LINKED 49",890,2,"0.9952526709315459"]
["C1835928","CARDIOMYOPATHY, DILATED, 1P",889,2,"0.9937171881860674"]
["C3151265","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18",889,2,"0.9938162969982599"]
["C0920646","Ischemia of kidney",888,2,"0.23747759747484204"]
["C0920715","Myocardial hypoxia",888,2,"0.18202164255493047"]
["C0031030","Periapical Periodontitis",887,2,"0.40992645799122546","Diseases of the digestive system"]
["C0524686","Periodontitis, Acute Nonsuppurative",887,2,"0.2635987595030968"]
["C3150344","HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",884,2,"0.5966922944141666"]
["C3502110","Homocystinuria, Pyridoxine-Responsive",884,2,"0.447838774161875"]
["C0019880","Homocystinuria",883,2,"0.6494404746497008","Endocrine, nutritional and metabolic diseases"]
["C0751202","Cystathionine beta-Synthase Deficiency Disease",883,2,"0.22116598769748863"]
["C1850383","Neuropathy, Painful",879,2,"0.6416883174742127"]
["C3280976","Thrombophilia due to Thrombomodulin Defect",879,2,"0.6083443841351104"]
["C1836199","DEAFNESS, AUTOSOMAL RECESSIVE 48",877,2,"1.0"]
["C3553944","USHER SYNDROME, TYPE IJ",877,2,"1.0"]
["C1854664","LETHAL CONGENITAL CONTRACTURE SYNDROME 1",876,2,"1.0"]
["C2678471","Lethal Arthrogryposis With Anterior Horn Cell Disease",876,2,"1.0"]
["C1859194","GRISCELLI SYNDROME, TYPE 1",872,2,"1.0"]
["C1860157","Elejalde Disease",872,2,"1.0"]
["C1833219","CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)",870,2,"0.6973044473347568"]
["C4049342","Foot osteomyelitis",870,2,"0.693176807610238"]
["C0405578","Gigantism and acromegaly",867,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C4521132","ACROMEGALY DUE TO PITUITARY ADENOMA 1",867,2,"1.0"]
["C2676439","USHER SYNDROME, TYPE IIB, FORMERLY",866,2,"0.9999999999999983"]
["C3148929","USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC",866,2,"0.9999999999999983"]
["C1850406","NAVAJO NEUROHEPATOPATHY",862,2,"1.0"]
["C1850407","Navajo Familial Neurogenic Arthropathy",862,2,"1.0"]
["C1832475","Deafness, Autosomal Dominant 11",860,2,"1.0"]
["C1838701","DEAFNESS, AUTOSOMAL RECESSIVE 2",860,2,"1.0"]
["C0271097","Usher Syndrome",859,2,"0.8166753580483829"]
["C2931205","Usher syndrome, type 1A",859,2,"0.7443200537720106"]
["C0040127","Thyroid Crisis",856,2,"0.5493164845774884"]
["C1832394","Deafness, Autosomal Recessive 12",856,2,"0.6675663792591836"]
["C0271583","ACTH Deficiency, Isolated",855,2,"0.937114672151115"]
["C0342388","Adrenocorticotropic hormone (ACTH) deficiency (disorder)",855,2,"0.9177359308085921"]
["C4023211","Adrenocorticotropin deficient adrenal insufficiency",854,2,"0.32252306691722366"]
["C4024716","Secondary growth hormone deficiency",854,2,"0.34164078649987384"]
["C4014425","PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4",853,2,"1.0"]
["C4016748","CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC",853,2,"1.0"]
["C3539003","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI",849,2,"0.7320508075688765"]
["C3809470","EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2",849,2,"0.8472422208337105"]
["C0020481","Hyperlipoproteinemia Type V",848,2,"0.6841980763631633"]
["C3489395","Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial",848,2,"0.6509671675393711"]
["C2751308","CONE DYSTROPHY 4 (disorder)",847,2,"1.0"]
["C2751309","Achromatopsia 5",847,2,"1.0"]
["C2680446","SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE",846,2,"1.0"]
["C3280371","NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4",846,2,"1.0"]
["C0751914","Adult Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C0751918","Cockayne-Pelizaeus-Merzbacher Disease",841,2,"0.9999999999999853"]
["C1868512","Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant",840,2,"1.0"]
["C3164344","Adult onset autosomal dominant leukodystrophy",840,2,"1.0"]
["C1865869","CONE DYSTROPHY 3 (disorder)",838,2,"1.0"]
["C1867326","RETINAL CONE DYSTROPHY 1",838,2,"1.0"]
["C1848029","Ehlers-Danlos syndrome caused by tenascin-X deficiency",837,2,"1.0"]
["C4014831","VESICOURETERAL REFLUX 8",837,2,"1.0"]
["C2751831","Myopathy, Myofibrillar, Bag3-Related",834,2,"1.0"]
["C3151293","CARDIOMYOPATHY, DILATED, 1HH",834,2,"1.0"]
["C0023308","Lens Diseases",831,2,"0.3716897644346344","Diseases of the eye and adnexa"]
["C1854065","LATE-ONSET RETINAL DEGENERATION (disorder)",831,2,"0.618030620635236"]
["C1842577","JOUBERT SYNDROME 2",824,2,"1.0"]
["C1864148","MECKEL SYNDROME, TYPE 2",824,2,"1.0"]
["C0409477","Ankylosis of the elbow joint",822,2,"0.1828295540309277","Diseases of the musculoskeletal system and connective tissue"]
["C2930865","Ramer Ladda syndrome",822,2,"0.15153218941705743"]
["C0677659","Gastro-esophageal reflux disease with esophagitis",819,2,"0.5747628024909952","Diseases of the digestive system"]
["C1836023","Drug Metabolism, Poor, CYP2C19-Related",819,2,"0.6132308741075797"]
["C1854442","SPLIT-HAND/FOOT MALFORMATION 4",817,2,"0.7104361443756277"]
["C1863204","ADULT SYNDROME",817,2,"0.7450222251846209"]
["C0796182","Acromelic frontonasal dysplasia",813,2,"1.0"]
["C1863616","ACROMELIC FRONTONASAL DYSOSTOSIS",813,2,"1.0"]
["C0752127","Spinal Cord Vascular Diseases",812,2,"0.9999999999999994"]
["C0752130","Spinal Cord Ischemia",812,2,"0.9999999999999994"]
["C1720772","Hypoprebetalipoproteinemia",807,2,"1.0"]
["C1835362","Lp(A) Deficiency, Congenital",807,2,"1.0"]
["C0270853","Juvenile Myoclonic Epilepsy",805,2,"0.8183164185537508"]
["C0393676","Panayiotopoulos Syndrome",805,2,"0.773773876807001"]
["C3544092","Urgency frequency syndrome",804,2,"0.9983310779247285"]
["C4020898","Overactive bladder syndrome",804,2,"0.99833219605315"]
["C0268849","Overactive Detrusor",803,2,"0.6053456464057408"]
["C0878773","Overactive Bladder",803,2,"0.5045045427376117","Diseases of the genitourinary system"]
["C0265257","Genee-Wiedemann syndrome",802,2,"1.0"]
["C0812435","Chromosome 11p deletion syndrome",802,2,"1.0"]
["C0206526","Tuberculosis, Multidrug-Resistant",801,2,"0.5857143019959369"]
["C2959467","Tuberculous pleural effusion",801,2,"0.6220428423581812"]
["C1864690","Microphthalmia, Syndromic 5",797,2,"1.0"]
["C3151440","PITUITARY HORMONE DEFICIENCY, COMBINED, 6",797,2,"1.0"]
["C3150819","RETINITIS PIGMENTOSA 56",796,2,"0.839130207283061"]
["C4015343","MACULAR DYSTROPHY, VITELLIFORM, 5",796,2,"0.7058832043421653"]
["C1848634","USHER SYNDROME, TYPE IIA",790,2,"0.8962542649362767"]
["C3151138","RETINITIS PIGMENTOSA 39 (disorder)",790,2,"0.9034325027409735"]
["C0393738","Chronic tension-type headache",787,2,"1.0","Diseases of the nervous system"]
["C0522254","Analgesic Overuse Headache",787,2,"1.0"]
["C3554047","VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4",786,2,"1.0"]
["C4015671","LONG QT SYNDROME 14",786,2,"1.0"]
["C0030326","Panniculitis",781,2,"0.22850361610122386","Diseases of the musculoskeletal system and connective tissue"]
["C1850568","Nakajo syndrome",781,2,"0.6219550994250064"]
["C0037052","Sick Sinus Syndrome",780,2,"0.6710508779708946","Diseases of the circulatory system"]
["C0428908","Sinus Node Dysfunction (disorder)",780,2,"0.66059401202679","Diseases of the circulatory system"]
["C2677294","Atrial Fibrillation, Familial, 6",779,2,"1.0"]
["C3810401","ATRIAL STANDSTILL 2",779,2,"1.0"]
["C0340489","Lone atrial fibrillation",775,2,"0.20797013810246612"]
["C1838539","CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE",775,2,"0.2109656423054702"]
["C0030443","Familial Periodic Paralysis",770,2,"0.32663175332840694","Diseases of the nervous system"]
["C1279412","periodic paralysis (finding)",770,2,"0.43571074424463696","Diseases of the nervous system"]
["C1867904","LONG QT SYNDROME 5",765,2,"1.0"]
["C2676723","JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)",765,2,"1.0"]
["C0023976","Long QT Syndrome",762,2,"0.6283599845520125","Diseases of the circulatory system"]
["C0035828","Romano-Ward Syndrome",762,2,"0.3691433654662393"]
["C0282492","Sneddon Syndrome",758,2,"0.9992678151023836"]
["C3887654","POLYARTERITIS NODOSA, CHILDHOOD-ONSET",758,2,"0.9992679579442352"]
["C0220754","Biotinidase Deficiency",750,2,"1.0","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C1854698","Multiple Carboxylase Deficiency, Juvenile-Onset",750,2,"1.0"]
["C0014852","Esophageal Diseases",748,2,"0.6611022496549224","Diseases of the digestive system"]
["C0085648","Synovial Cyst",748,2,"0.5884721565011979","Diseases of the musculoskeletal system and connective tissue"]
["C0010398","Cruveilhier-Baumgarten Syndrome",747,2,"0.25302478234126086"]
["C0020541","Hypertension, Portal",747,2,"0.41561165720820364","Diseases of the digestive system"]
["C2931276","Spastic paraplegia 17",744,2,"0.998533412085471"]
["C4014700","ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY",744,2,"0.9985938757440144"]
["C1862939","AMYOTROPHIC LATERAL SCLEROSIS 1",743,2,"0.993126555306699"]
["C1862941","Amyotrophic Lateral Sclerosis, Sporadic",743,2,"0.9934310363955956"]
["C0020473","Hyperlipidemia",741,2,"0.416870097433047","Endocrine, nutritional and metabolic diseases"]
["C0020476","Hyperlipoproteinemias",741,2,"0.5276146831771171"]
["C0018784","Sensorineural Hearing Loss (disorder)",735,2,"0.31871630779912136","Diseases of the ear and mastoid process"]
["C1691779","Sensory hearing loss",735,2,"0.21207178795931078","Diseases of the ear and mastoid process"]
["C0205700","Asymmetric Septal Hypertrophy",732,2,"0.7739861564546344"]
["C3495498","Cardiomyopathy, Familial Hypertrophic, 1 (disorder)",732,2,"0.792887315284524"]
["C1450052","Tibial Muscular Dystrophy",730,2,"0.8645868482938878"]
["C1838244","TIBIAL MUSCULAR DYSTROPHY, TARDIVE",730,2,"0.7097811541705715"]
["C1837342","MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J",729,2,"0.9999999999997151"]
["C1858763","Cardiomyopathy, Dilated, 1g",729,2,"0.9999999999997151"]
["C1861065","CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9",728,2,"0.9957489481406627"]
["C2673677","Myopathy, Early-Onset, with Fatal Cardiomyopathy",728,2,"0.9951353981554215"]
["C0751595","Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease",723,2,"0.9999999999999932"]
["C0751596","Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal",723,2,"0.9999999999999932"]
["C0034345","Pyruvate Dehydrogenase Complex Deficiency Disease",722,2,"0.5965250327374089","Endocrine, nutritional and metabolic diseases"]
["C0751597","Ataxia with Lactic Acidosis, Type I",722,2,"0.2569730455016727"]
["C0034350","Pyruvate Metabolism, Inborn Errors",721,2,"1.0"]
["C1839413","Pyruvate Dehydrogenase E1 Alpha Deficiency",721,2,"1.0"]
["C0410445","Osteomalacia secondary to drug",712,2,"0.4864035305026815"]
["C1566050","Icterus Gravis Neonatorum",712,2,"0.6237574175032533"]
["C2676786","Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1",711,2,"1.0"]
["C3150652","FANCONI RENOTUBULAR SYNDROME 2",711,2,"1.0"]
["C4310232","Hypercalcemia, Infantile, 1",710,2,"0.7669843524860251"]
["C4310473","Hypercalcemia, infantile, 2",710,2,"0.20583087736403713"]
["C0020437","Hypercalcemia",709,2,"0.8021882991347734","Endocrine, nutritional and metabolic diseases"]
["C0026141","Milk-Alkali Syndrome",709,2,"0.8043957909327021"]
["C0019569","Hirschsprung Disease",707,2,"0.8260524482411316","Congenital malformations, deformations and chromosomal abnormalities"]
["C3661523","Congenital Intestinal Aganglionosis",707,2,"0.8494799989885411"]
["C0015923","Fetal Alcohol Syndrome",705,2,"0.603425035837761","Congenital malformations, deformations and chromosomal abnormalities"]
["C2985290","Fetal Alcohol Spectrum Disorders",705,2,"0.6233701513574809"]
["C0678189","Hyperlipidemia, group A",704,2,"0.989297627830552","Endocrine, nutritional and metabolic diseases"]
["C1863512","HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE",704,2,"0.9884476400487494"]
["C0268407","Senile cardiac amyloidosis",702,2,"0.9995482658503214"]
["C0936273","Familial Amyloid Polyneuropathy, Type IV",702,2,"0.9995656180385147"]
["C0006277","Bronchitis",700,2,"0.9938496747180657","Diseases of the respiratory system"]
["C0149514","Acute bronchitis",700,2,"0.9938503080083153","Diseases of the respiratory system"]
["C4014722","STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET",699,2,"1.0"]
["C4040879","STING-associated vasculopathy with onset in infancy",699,2,"1.0"]
["C1836681","Erythrokeratoderma, Reticular",698,2,"0.7807312802970292"]
["C3665704","Congenital reticular ichthyosiform erythroderma",698,2,"0.6975931161326213"]
["C1843463","Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis",697,2,"0.8789243036263379"]
["C1862005","Epidermolytic Hyperkeratosis, Late-Onset",697,2,"0.8995467019257061"]
["C1840427","PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder)",694,2,"0.4702164723586234"]
["C3489771","Keratosis Palmaris et Plantaris Familiaris",694,2,"0.3642005403586711"]
["C0596992","myelinopathy",693,2,"0.7218266850127371"]
["C1843247","Charcot-Marie-Tooth disease, Type 1D (disorder)",693,2,"0.6594649676288741"]
["C0393818","Congenital hypomyelinating neuropathy",692,2,"0.9670142111134178"]
["C3551756","NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT",692,2,"0.9615248209387778"]
["C0011195","Dejerine-Sottas Disease (disorder)",688,2,"0.7899848850029398","Diseases of the nervous system"]
["C0027888","Hereditary Motor and Sensory Neuropathies",688,2,"0.6446579330030285","Diseases of the nervous system"]
["C0265970","Porokeratosis, Disseminated Superficial Actinic",686,2,"0.15045825923412956","Diseases of the skin and subcutaneous tissue"]
["C3553549","POROKERATOSIS 7, MULTIPLE TYPES",686,2,"0.5835054583215198"]
["C0011303","Demyelinating Diseases",685,2,"0.7752290377018304"]
["C2350037","Clinically Isolated Syndrome, CNS Demyelinating",685,2,"0.7423947339652351"]
["C0521736","Lower eyelid ectropion",676,2,"0.3445350331475028"]
["C1861536","Blepharo-cheilo-dontic syndrome",676,2,"0.3297073703251341"]
["C2362324","Pediatric Obesity",673,2,"0.9455813136872172"]
["C4317171","Adolescent Obesity",673,2,"0.940789261126465"]
["C0038826","Superinfection",672,2,"0.4660447112480546"]
["C0375021","Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site",672,2,"0.5591932666714367"]
["C0024266","Lymphocytic Choriomeningitis",671,2,"0.7779065358730058","Certain infectious and parasitic diseases"]
["C0153014","Non-arthropod borne lymphocytic choriomeningitis",671,2,"0.8001508084484671"]
["C0038362","Stomatitis",664,2,"0.8475133864211715","Diseases of the digestive system"]
["C1568868","Oral Mucositis",664,2,"0.8350957420433578"]
["C0271826","Iodide transport defect",663,2,"0.6882466465469741"]
["C1848805","Thyroid Dyshormonogenesis 1",663,2,"0.5239308796356907"]
["C0151516","Thyroid Hypoplasia",661,2,"0.43880412802823754"]
["C4020805","Athyroidal hypothyroidism",661,2,"0.5241414839373812"]
["C0268193","NADH cytochrome B5 reductase deficiency",659,2,"0.4036750004034327","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3492932","Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency",659,2,"0.7403506104565915"]
["C0015503","Factor VII Deficiency",655,2,"0.9810026565225162","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0272320","Hereditary factor VII deficiency disease",655,2,"0.9809362143502084"]
["C0034734","Raynaud Disease",654,2,"0.9999999999999978","Diseases of the circulatory system"]
["C0034735","Raynaud Phenomenon",654,2,"0.9999999999999978","Diseases of the circulatory system"]
["C0024523","Malabsorption Syndrome",652,2,"0.9321836438002457","Diseases of the digestive system"]
["C0342705","Folate Malabsorption, Hereditary",652,2,"0.9330471211540479"]
["C1835813","Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency",648,2,"0.9085031669748878"]
["C1848534","VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1",648,2,"0.8833558099301588"]
["C0008533","Hemophilia B",642,2,"0.966245300359561","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2749016","Thrombophilia, X-Linked, Due To Factor Ix Defect",642,2,"0.9671865613145254"]
["C3494186","Autosomal Hemophilia A",641,2,"0.6476075623883875"]
["C3494187","Factor VIII Deficiency",641,2,"0.5721504921231322"]
["C0155320","Blindness, Cortical",638,2,"0.9780795817751521","Diseases of the eye and adnexa"]
["C3810365","Central visual impairment",638,2,"0.9776886371551199"]
["C0018979","Hemianopsia",636,2,"0.4974179369584479"]
["C0162671","MELAS Syndrome",636,2,"0.38405152926486325","Endocrine, nutritional and metabolic diseases"]
["C1842930","Neutropenia, Nonimmune Chronic Idiopathic, Adult",634,2,"1.0"]
["C2751288","Neutropenia, Severe Congenital, Autosomal Dominant 2",634,2,"1.0"]
["C0341305","Autoimmune enteropathy",633,2,"0.8678886865396789"]
["C0342288","Insulin-dependent diabetes mellitus secretory diarrhea syndrome",633,2,"0.8588312925940522"]
["C0043121","Wernicke Encephalopathy",632,2,"0.760442302762328","Endocrine, nutritional and metabolic diseases"]
["C4310751","SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS",632,2,"0.8423192739130502"]
["C0154841","Central retinal vein occlusion",630,2,"1.0","Diseases of the eye and adnexa"]
["C3279564","Osteogenesis Imperfecta, Type VI",630,2,"1.0"]
["C0010043","Corneal Ulcer",629,2,"0.17419135153269433","Diseases of the eye and adnexa"]
["C0155119","Recurrent erosion of cornea",629,2,"0.2650551126554656","Diseases of the eye and adnexa"]
["C0393590","Fahr\\'s syndrome (disorder)",627,2,"0.12562909004224834"]
["C0854107","Subcutaneous hemorrhage",627,2,"0.29954540529380225"]
["C0085110","Severe Combined Immunodeficiency",624,2,"0.6532822773707201"]
["C2700553","Omenn Syndrome",624,2,"0.4137016661042271"]
["C0019187","Hepatitis, Alcoholic",623,2,"0.9773060630703634","Diseases of the digestive system"]
["C0524610","Chronic Alcoholic Hepatitis",623,2,"0.9803385823147193"]
["C0155241","Lacrimal mucocele",621,2,"0.7862345793723479"]
["C1867060","Lacrimal Puncta, Absence of",621,2,"0.6146774849779518"]
["C0015302","External exotoses",618,2,"0.6444798448047331"]
["C0432282","Dysplasia epiphysealis hemimelica",618,2,"0.7963893485560049"]
["C1864100","PSEUDOHYPOPARATHYROIDISM, TYPE IB",613,2,"0.9785753593323828"]
["C2932715","Pseudohypoparathyroidism Type 1B",613,2,"0.9768313813592489"]
["C0154832","Exudative retinopathy",611,2,"0.2317766540318801","Diseases of the eye and adnexa"]
["C2677299","CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)",611,2,"0.4874832298357602"]
["C1845052","AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1",610,2,"0.9483959080229775"]
["C1845053","Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth",610,2,"0.9459956737693291"]
["C0730290","Cone dystrophy",609,2,"0.8513923630406093"]
["C4085590","Cone-Rod Dystrophies",609,2,"0.8516181098555007"]
["C1956125","Alagille Syndrome 1",608,2,"0.9221314768146339"]
["C2930797","Hepatic ductular hypoplasia",608,2,"0.8624084409169754"]
["C0917715","Hajdu-Cheney Syndrome",607,2,"0.9987317433153072"]
["C2930971","Acroosteolysis dominant type",607,2,"0.9987308376921606"]
["C0020496","Hyperostosis of skull",603,2,"0.7772523754463782","Diseases of the musculoskeletal system and connective tissue"]
["C0265301","Sclerosteosis",603,2,"0.6388611988177235"]
["C0410539","Craniodiaphyseal dysplasia",602,2,"0.9064239499789305"]
["C2675746","CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder)",602,2,"0.8761549604031539"]
["C0020757","Ichthyoses",601,2,"0.3674343801105009"]
["C0043345","Xeroderma",601,2,"0.1663235688718565","Endocrine, nutritional and metabolic diseases"]
["C2930996","Muscular dystrophy, tardive Emery-Dreifuss type, with contractures",595,2,"1.0"]
["C4023180","Type 1 muscle fiber atrophy",595,2,"1.0"]
["C3890205","Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative",591,2,"0.999653788395011"]
["C3898105","Oligoarticular Juvenile Idiopathic Arthritis",591,2,"0.9996546390765393"]
["C1851101","Laurin-Sandrow Syndrome, Segmental",587,2,"1.0"]
["C1861099","Absence of tibia with polydactyly",587,2,"1.0"]
["C1861355","Syndactyly, Type IV",586,2,"0.9618757631509878"]
["C1868114","POLYDACTYLY, PREAXIAL II (disorder)",586,2,"0.9420659032916663"]
["C0265345","Lymphedema distichiasis syndrome",583,2,"1.0"]
["C2675066","Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus",583,2,"1.0"]
["C4225315","RETINITIS PIGMENTOSA 72",581,2,"1.0"]
["C4225316","EXUDATIVE VITREORETINOPATHY 6",581,2,"1.0"]
["C1835865","Cone-Rod Dystrophy 11",580,2,"1.0"]
["C3151060","Macular Degeneration, Age-Related, 6",580,2,"1.0"]
["C0271093","Stargardt\\'s disease",574,2,"0.974571387466299","Diseases of the eye and adnexa"]
["C1855465","STARGARDT DISEASE 1 (disorder)",574,2,"0.9748124424696775"]
["C4021559","Retinitis pigmentosa inversa",573,2,"0.7487472823872741"]
["C4282180","Juvenile macular degeneration",573,2,"0.4479718180457302"]
["C0271388","Pendular Nystagmus",570,2,"0.5577593300435204"]
["C4020734","Nystagmus, continuous pendular",570,2,"0.6720572290839278"]
["C0155015","Color Blindness, Red",568,2,"0.29384158278046085"]
["C3887980","COLORBLINDNESS, PARTIAL, PROTAN SERIES",568,2,"0.5912784469348508","Diseases of the eye and adnexa"]
["C0152200","Achromatopsia",567,2,"0.4973852997202461","Diseases of the eye and adnexa"]
["C0858618","Dyschromatopsia",567,2,"0.6626440512016597"]
["C1845026","Neural tube defects X-linked",565,2,"0.9999999999999996"]
["C1845027","Spina Bifida, X-Linked",565,2,"0.9999999999999996"]
["C0272340","High molecular weight kininogen deficiency",560,2,"1.0"]
["C1856719","Kininogen Deficiency, Total",560,2,"1.0"]
["C0019243","Angioedemas, Hereditary",559,2,"0.4114754846384161"]
["C2931758","Acquired angioedema",559,2,"0.2129483329003646"]
["C3151078","Complement Component C1s Deficiency",556,2,"1.0"]
["C4310681","EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2",556,2,"1.0"]
["C1739108","Latent Autoimmune Diabetes in Adults",555,2,"0.464725720769028"]
["C1960272","Latent autoimmune diabetes mellitus in adult",555,2,"0.5755643200635913"]
["C1832392","DIABETES MELLITUS, INSULIN-DEPENDENT, 12",554,2,"1.0"]
["C4015214","CTLA4 Haploinsufficiency",554,2,"1.0"]
["C1291299","Deficiency of iodide peroxidase (disorder)",553,2,"1.0"]
["C3887639","Autoimmune gastritis",553,2,"1.0"]
["C1832390","Van Maldergem Wetzburger Verloes syndrome",550,2,"0.533583257160259"]
["C1843003","MITRAL VALVE PROLAPSE, MYXOMATOUS 2",550,2,"0.7745867661635375"]
["C3809875","VAN MALDERGEM SYNDROME 2",549,2,"1.0"]
["C4014939","HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2",549,2,"1.0"]
["C3150898","CARDIOMYOPATHY, DILATED, 1GG",546,2,"1.0"]
["C3279992","PARAGANGLIOMAS 5",546,2,"1.0"]
["C0270786","Binswanger Disease",545,2,"1.0","Diseases of the circulatory system"]
["C0393561","Subcortical Vascular Dementia",545,2,"1.0"]
["C0393560","Vascular Dementia, Acute Onset",544,2,"1.0"]
["C0600359","Arteriosclerotic Dementia",544,2,"1.0","Mental and behavioural disorders"]
["C0152132","Hypertensive Retinopathy",539,2,"0.4981463087898297","Diseases of the eye and adnexa"]
["C4476521","Renal glomerular fibrosis",539,2,"0.5796800734151006"]
["C0003496","Aortic Rupture",536,2,"0.7455462418228552"]
["C0741160","Aortic Aneurysm, Ruptured",536,2,"0.715779107328438","Diseases of the circulatory system"]
["C0020550","Hyperthyroidism",533,2,"0.5310963689084658","Endocrine, nutritional and metabolic diseases"]
["C3714618","Primary Hyperthyroidism",533,2,"0.49638561391152536"]
["C0022593","Keratosis",532,2,"0.9765912444509646"]
["C0022594","Keratosis Blennorrhagica",532,2,"0.9810459660205855"]
["C0085409","Polyendocrinopathies, Autoimmune",527,2,"0.6137385144910688","Endocrine, nutritional and metabolic diseases"]
["C0085860","Autoimmune Syndrome Type II, Polyglandular",527,2,"0.5623004718907777","Endocrine, nutritional and metabolic diseases"]
["C0085859","Polyglandular Type I Autoimmune Syndrome",525,2,"0.6693597808044089"]
["C3494489","Autoimmune polyendocrinopathy syndrome, type 1",525,2,"0.10353544396719432"]
["C0019342","Genital Herpes",522,2,"0.3222887820463773"]
["C0033839","Pseudorabies",522,2,"0.30902213501100945"]
["C0877055","Acute Generalized Exanthematous Pustulosis",521,2,"1.0"]
["C3541994","Drug Hypersensitivity Syndrome",521,2,"1.0"]
["C3553330","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7",519,2,"0.9233168059257613"]
["C4015095","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7",519,2,"0.9339192086255407"]
["C3808964","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12",517,2,"0.9577822444510047"]
["C4015184","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12",517,2,"0.9623600204742797"]
["C1837229","Muscular Dystrophy, Congenital, Type 1D",516,2,"0.804287579275292"]
["C3150414","MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6",516,2,"0.7046555751397945"]
["C0033626","Protein Deficiency",510,2,"0.6459081826906153"]
["C1456865","Ureteral Calculi",510,2,"0.6832780467155303","Diseases of the genitourinary system"]
["C0039483","Giant Cell Arteritis",509,2,"0.5450863817344763"]
["C1956391","Temporal Arteritis",509,2,"0.5560695075181158"]
["C3553720","CFHR5 DEFICIENCY",508,2,"0.6198948742524636"]
["C4055342","C3 Glomerulonephritis",508,2,"0.24228411941257433"]
["C0017563","Gingival Diseases",506,2,"0.2624072750765357"]
["C0031090","Periodontal Diseases",506,2,"0.38106297384817656","Diseases of the digestive system"]
["C3150215","CHROMOSOME 6q24-q25 DELETION SYNDROME",504,2,"1.0"]
["C3281201","MENTAL RETARDATION, AUTOSOMAL DOMINANT 12",504,2,"1.0"]
["C1867774","Sacral Agenesis Syndrome",502,2,"0.5658262487936977"]
["C2609260","Caudal dysplasia syndrome",502,2,"0.4903697787021711"]
["C0236124","Gastrointestinal obstruction",501,2,"1.0"]
["C1867775","Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation",501,2,"1.0"]
["C2674127","LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)",497,2,"1.0"]
["C2931764","Furlong syndrome",497,2,"1.0"]
["C2677903","Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia",492,2,"1.0"]
["C3275356","MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS",492,2,"1.0"]
["C0796094","Blepharophimosis syndrome Ohdo type",491,2,"0.9807859742646158"]
["C3698541","Ohdo syndrome, Maat-Kievit-Brunner type",491,2,"0.9805706382908068"]
["C0271642","Fibrocalculous pancreatic diabetes",483,2,"0.8024504376285998"]
["C1842402","TROPICAL CALCIFIC PANCREATITIS",483,2,"0.787784214651229"]
["C0036130","Salpingitis",480,2,"1.0","Diseases of the genitourinary system"]
["C0340238","Infectious disorder of bronchus",480,2,"1.0"]
["C3279947","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9",478,2,"0.8876140883947304"]
["C3279974","NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10",478,2,"0.9213497530746388"]
["C0035243","Respiratory Tract Infections",474,2,"0.7581371298253727"]
["C0041912","Upper Respiratory Infections",474,2,"0.7275600457296084","Diseases of the respiratory system"]
["C1842026","GLAUCOMA 1, OPEN ANGLE, E",472,2,"1.0"]
["C3150692","AMYOTROPHIC LATERAL SCLEROSIS 12",472,2,"1.0"]
["C0339284","Polymorphous corneal dystrophy",468,2,"0.22261932122046307"]
["C0423325","Ectropion uveae",468,2,"0.2931796476185303"]
["C0221043","Liddle Syndrome",466,2,"0.6120890604764739"]
["C3854315","Pseudoprimary hyperaldosteronism",466,2,"0.6278966923236721"]
["C1851801","EDS VIIB",464,2,"0.7219196292441319"]
["C1857034","Ehlers-Danlos syndrome, cardiac valvular form",464,2,"0.7628327698463164"]
["C0023931","Lobstein Disease",463,2,"0.3379900078098522"]
["C0268358","Osteogenesis imperfecta, dominant perinatal lethal",463,2,"0.46485625866266"]
["C0268345","EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE",462,2,"0.7126269007718731"]
["C0268360","Osteogenesis imperfecta, recessive perinatal lethal",462,2,"0.6800758704992528"]
["C0010495","Cutis Laxa",460,2,"0.4854178559153732","Congenital malformations, deformations and chromosomal abnormalities"]
["C2930812","Generalized elastolysis",460,2,"0.6973716491077706"]
["C1394691","Bowel diverticula",456,2,"0.9999999999999993"]
["C1395674","Bowel diverticulosis",456,2,"0.9999999999999993"]
["C0003499","Supravalvular aortic stenosis",455,2,"0.6775986019638545","Congenital malformations, deformations and chromosomal abnormalities"]
["C1305147","Congenital supravalvular aortic stenosis",455,2,"0.6875930283334726"]
["C0268350","Cutis Laxa, Autosomal Dominant",454,2,"0.40724458561395965"]
["C3276539","CUTIS LAXA, AUTOSOMAL DOMINANT 1",454,2,"0.38907494172645524"]
["C1851286","Ectopia lentis isolated",451,2,"0.974439783650577"]
["C2746069","Familial ectopia lentis",451,2,"0.9799988852135615"]
["C0265313","Weill-Marchesani syndrome",449,2,"0.6064551660038773"]
["C1869115","Weill-Marchesani Syndrome, Autosomal Dominant",449,2,"0.8210254597515128"]
["C1562061","Microspherophakia",448,2,"0.6546224630933732"]
["C1869114","Weill-Marchesani Syndrome, Autosomal Recessive",448,2,"0.6413218716140243"]
["C1856441","Late onset congenital glaucoma",446,2,"1.0"]
["C4310623","ANTERIOR SEGMENT DYSGENESIS 6",446,2,"1.0"]
["C1533041","Primary congenital glaucoma",443,2,"0.8045052695033835"]
["C1832977","GLAUCOMA 3, PRIMARY INFANTILE, B",443,2,"0.8418411033992419"]
["C1853800","Familial Wilms tumor 2",441,2,"0.5767294092107268"]
["C1856184","HEMIHYPERPLASIA, ISOLATED",441,2,"0.08434478187202335"]
["C0039585","Androgen-Insensitivity Syndrome",440,2,"0.4949219378090224","Endocrine, nutritional and metabolic diseases"]
["C0936016","Testicular Feminization",440,2,"0.7434894162210897","Endocrine, nutritional and metabolic diseases"]
["C0023518","Leukocytosis",437,2,"0.7030003942887757","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0151857","Pleocytosis",437,2,"0.6589072901708005"]
["C0268393","Familial Cerebral Amyloid Angiopathy",434,2,"0.9986051885149786"]
["C1956349","Cerebral Amyloid Angiopathy, Genetic",434,2,"0.9986947181822506"]
["C0162316","Iron deficiency anemia",431,2,"0.2544120357398208","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0240066","Iron deficiency",431,2,"0.1532600255712564","Endocrine, nutritional and metabolic diseases"]
["C0162566","Porphyria Cutanea Tarda",430,2,"0.4981586294438172","Endocrine, nutritional and metabolic diseases"]
["C1276127","Sporadic porphyria cutanea tarda",430,2,"0.5563569852247574"]
["C0018995","Hemochromatosis",427,2,"0.8303334540002045","Endocrine, nutritional and metabolic diseases"]
["C0392514","Hereditary hemochromatosis",427,2,"0.7176119788314419","Endocrine, nutritional and metabolic diseases"]
["C0017086","Gangrene",426,2,"0.5899649644787076"]
["C0039263","Takayasu Arteritis",426,2,"0.5391040223354093","Diseases of the musculoskeletal system and connective tissue"]
["C1847200","ALZHEIMER DISEASE 4",419,2,"0.792877776109649"]
["C3150958","Cardiomyopathy, Dilated, 1V",419,2,"0.8644843533259763"]
["C0004245","Atrioventricular Block",418,2,"0.11107191427404219","Diseases of the circulatory system"]
["C1841659","Atrioventricular nodal disease",418,2,"0.44628644725636907"]
["C1969115","GALLBLADDER DISEASE 4",417,2,"0.5070206533678672"]
["C2749759","Macrothrombocytopenia-Stomatocytosis, Mediterranean",417,2,"0.31247566213919653"]
["C1848486","Premature arteriosclerosis",415,2,"0.9999999999999967"]
["C4280503","Premature hardening of arteries",415,2,"0.9999999999999967"]
["C0342881","Familial hypercholesterolemia - homozygous",414,2,"0.9950686441998615"]
["C4024924","Cerebral artery atherosclerosis",414,2,"0.9950474936329504"]
["C2931355","Spastic paraplegia 3, autosomal dominant",413,2,"0.770761166304369"]
["C3150972","NEUROPATHY, HEREDITARY SENSORY, TYPE ID",413,2,"0.586520528858976"]
["C0342683","ALBINISM, OCULOCUTANEOUS, TYPE III",412,2,"0.7066369256887443"]
["C2931599","Oculocutaneous albinism type 3",412,2,"0.8361578133452868"]
["C1853925","Spondyloocular Syndrome, Autosomal Recessive",410,2,"1.0"]
["C4225412","Spondylo-ocular syndrome",410,2,"1.0"]
["C0043049","Water Intoxication",408,2,"0.22944264170746775"]
["C0854145","Feeding Disorders",408,2,"0.6376287887875876"]
["C0015930","Fetal Distress",407,2,"0.45256406260740734"]
["C0033575","Prostatic Diseases",407,2,"0.27536877547810695","Diseases of the genitourinary system"]
["C1846545","Autoimmune Lymphoproliferative Syndrome Type 2B",405,2,"0.7568177088053265"]
["C2717884","Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant",405,2,"0.4919738002637894"]
["C0002897","Anemia, Splenic",403,2,"0.5425821165873709"]
["C0020532","Hypersplenism",403,2,"0.6543728863656868","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0042170","Uveomeningoencephalitic Syndrome",402,2,"0.23259116069363253","Diseases of the eye and adnexa"]
["C0221262","Poliosis",402,2,"0.15104698983732226","Diseases of the skin and subcutaneous tissue"]
["C0342680","Klein-Waardenberg\\'s syndrome",400,2,"1.0"]
["C1852510","Craniofacial deafness hand syndrome",400,2,"1.0"]
["C0079661","Klein\\'s Syndrome",399,2,"0.4695045680263902"]
["C1847800","Waardenburg Syndrome Type 1",399,2,"0.36030594134845584"]
["C1845069","ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9791177639715959"]
["C1863198","ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)",395,2,"0.9720885679905467"]
["C0264955","Idiopathic arterial calcification of infancy",392,2,"0.8787091073698305"]
["C1859727","Arterial calcification of infancy",392,2,"0.7463705437855592"]
["C0342643","Autosomal recessive hypophosphatemic vitamin D refractory rickets",390,2,"0.6327289554788011"]
["C4024631","Renal hypophosphatemia",390,2,"0.4754203404321968"]
["C0518988","Dental abscess",389,2,"1.0"]
["C1282952","Enthesitis",389,2,"1.0"]
["C0268548","Hyperargininemia",387,2,"0.9367336895013272","Endocrine, nutritional and metabolic diseases"]
["C4024698","Diaminoaciduria",387,2,"0.9356038318081711"]
["C2973725","Pulmonary arterial hypertension",385,2,"0.789848885431986"]
["C3203102","Idiopathic pulmonary arterial hypertension",385,2,"0.6660243161199924","Diseases of the circulatory system"]
["C0340543","Familial primary pulmonary hypertension",384,2,"0.2731814749495957","Diseases of the circulatory system"]
["C1701939","Familial pulmonary arterial hypertension",384,2,"0.6003141436099456"]
["C0340548","Pulmonary capillary hemangiomatosis",382,2,"0.8939113086646477"]
["C0340848","PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE",382,2,"0.8844054930985534"]
["C0034091","Pulmonary Veno-Occlusive Disease (disorder)",381,2,"0.9435568322018512"]
["C3887658","PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT",381,2,"0.9080891088792171"]
["C0432240","Stuve-Wiedemann dysplasia",379,2,"1.0"]
["C0796176","STUVE-WIEDEMANN SYNDROME",379,2,"1.0"]
["C0013264","Muscular Dystrophy, Duchenne",374,2,"0.2419306841899555"]
["C3542021","Duchenne and Becker Muscular Dystrophy",374,2,"0.6394036247685849"]
["C0699741","Benign congenital myopathy",373,2,"0.9972372709231963"]
["C3668940","Dmd-Associated Dilated Cardiomyopathy",373,2,"0.9972120608689411"]
["C0270968","Limb-girdle muscular dystrophy type 2H",371,2,"0.997529906649836"]
["C1859569","BARDET-BIEDL SYNDROME 11",371,2,"0.9975368843921245"]
["C0521802","Congenital atransferrinemia",370,2,"0.9316739660420865"]
["C2827503","HFE-Associated Hereditary Hemochromatosis",370,2,"0.9134244775840457"]
["C0271990","delta-Thalassemia",369,2,"0.80602502133213"]
["C0271991","delta^0^ Thalassemia",369,2,"0.8883038961902984"]
["C1849157","Resistance to Insulin-Like Growth Factor I",362,2,"1.0"]
["C1849158","Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein",362,2,"1.0"]
["C1838259","DIABETES MELLITUS, INSULIN-DEPENDENT, 7",361,2,"0.9832565159236114"]
["C1853371","MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder)",361,2,"0.983055907507467"]
["C0342326","Tumor-induced hypoglycemia",359,2,"1.0"]
["C4225307","GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES",359,2,"1.0"]
["C0014742","Erythema Multiforme",358,2,"0.9947243149110956","Diseases of the skin and subcutaneous tissue"]
["C3151085","MASP2 Deficiency",358,2,"0.9948802121872607"]
["C1847835","VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)",357,2,"0.9199535412388848"]
["C4479278","AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS",357,2,"0.9176241837195498"]
["C1856883","FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF",356,2,"0.7260441109509581"]
["C4317320","Factor V deficiency",356,2,"0.4485430979187163"]
["C0393929","Familial infantile myasthenia",352,2,"1.0"]
["C0751398","Familial Olivopontocerebellar Atrophy",352,2,"1.0"]
["C0263006","Perifolliculitis",343,2,"0.3736425611411837","Diseases of the skin and subcutaneous tissue"]
["C4023521","Chronic furunculosis",343,2,"0.5658899443261209"]
["C1833693","Otodental Dysplasia",341,2,"1.0"]
["C1853144","Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia",341,2,"1.0"]
["C1840347","HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)",340,2,"1.0"]
["C3809243","HYPOCALCEMIA, AUTOSOMAL DOMINANT 2",340,2,"1.0"]
["C0043515","Zollinger-Ellison syndrome",338,2,"0.6316264019367824","Endocrine, nutritional and metabolic diseases"]
["C0271844","Parathyroid hyperplasia",338,2,"0.5993809292643847","Endocrine, nutritional and metabolic diseases"]
["C1840394","Parathyroid Adenomatosis, Familial Cystic",336,2,"1.0"]
["C1840403","Parathyroid Adenoma, Familial",336,2,"1.0"]
["C0342344","Hypoparathyroidism - X-linked",332,2,"1.0"]
["C4479229","HYPERPARATHYROIDISM 4",332,2,"1.0"]
["C3715128","HYPOCALCEMIA, AUTOSOMAL DOMINANT 1",329,2,"0.9244236065313127"]
["C4048195","Autosomal dominant hypocalcemia",329,2,"0.9376584870455091"]
["C0238111","Lennox-Gastaut syndrome",328,2,"0.8375110108708896","Diseases of the nervous system"]
["C0595948","Atypical absence seizure",328,2,"0.7938951754925483"]
["C2677078","Generalized Epilepsy With Febrile Seizures Plus, Type 6",321,2,"0.1388245210853384"]
["C2677079","Inflammatory Bowel Disease 19",321,2,"0.6789069553318091"]
["C1858673","GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2",318,2,"0.6277796815973725"]
["C2751756","Febrile Convulsions, Familial, 3a",318,2,"0.8551897737257043"]
["C0391958","Familial Epilepsies",317,2,"1.0"]
["C1864987","Migraine, Familial Hemiplegic, 3",317,2,"1.0"]
["C0268347","Ehlers-Danlos Syndrome, Type VIII",315,2,"0.7385055764264418"]
["C3150274","COMPLEMENT COMPONENT C1r/C1s DEFICIENCY",315,2,"0.8381970974099762"]
["C1832594","Verloes Bourguignon syndrome",314,2,"1.0"]
["C2751297","Tooth Agenesis, Selective, 6",314,2,"1.0"]
["C1833538","OROFACIAL CLEFT 7",309,2,"1.0"]
["C2931488","Zlotogora-Ogur syndrome",309,2,"1.0"]
["C0037769","West Syndrome",307,2,"0.470177921914013","Diseases of the nervous system"]
["C3887898","Infantile Spasm",307,2,"0.5792649730881743"]
["C0001627","Congenital adrenal hyperplasia",305,2,"0.4720462315294918","Endocrine, nutritional and metabolic diseases"]
["C0302280","Adrenogenital Syndrome",305,2,"0.1714153640069068","Endocrine, nutritional and metabolic diseases"]
["C0342546","Premature adrenarche",304,2,"1.0","Endocrine, nutritional and metabolic diseases"]
["C4020713","Penile melanosis",304,2,"1.0"]
["C0003892","Neurogenic arthropathy",302,2,"0.4274246459299818","Diseases of the musculoskeletal system and connective tissue"]
["C3806285","Recurrent infections due to aspiration",302,2,"0.6188870142506163"]
["C3809882","NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII",298,2,"0.7749559668602081"]
["C3809899","EPISODIC PAIN SYNDROME, FAMILIAL, 3",298,2,"0.8911583170629884"]
["C2751778","Generalized Epilepsy With Febrile Seizures Plus, 7",296,2,"0.9789560861885035"]
["C3151229","FEBRILE SEIZURES, FAMILIAL, 3B",296,2,"0.9715609139633676"]
["C0014805","Primary Erythermalgia",294,2,"1.0"]
["C1833661","PAROXYSMAL EXTREME PAIN DISORDER",294,2,"1.0"]
["C0020074","HSAN Type IV",291,2,"0.12876059758081335"]
["C0020075","Hereditary Sensory Autonomic Neuropathy, Type 5",291,2,"0.27244245820846996"]
["C0008733","Chylothorax",289,2,"0.7325683322546428"]
["C1854465","TUBEROUS SCLEROSIS 1 (disorder)",289,2,"0.763570757220536"]
["C1860707","TUBEROUS SCLEROSIS 2 (disorder)",288,2,"0.7454437789976996"]
["C2750460","Tsc2 Angiomyolipomas, Renal, Modifier Of",288,2,"0.7752151359076043"]
["C0020635","Hypopituitarism",282,2,"0.5711769604530962","Endocrine, nutritional and metabolic diseases"]
["C0242342","Sheehan Syndrome",282,2,"0.36585909540837624","Endocrine, nutritional and metabolic diseases"]
["C0206115","WAGR Syndrome",279,2,"0.8704870501289318"]
["C2931803","Deletion 11p13",279,2,"0.9115534156796891"]
["C0151721","Testicular hypogonadism",276,2,"0.5825942239919469","Endocrine, nutritional and metabolic diseases"]
["C0271578","Female hypogonadism syndrome",276,2,"0.5395957806686352"]
["C1845146","Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate",273,2,"1.0"]
["C3150773","CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME",273,2,"1.0"]
["C0751486","Reye-Like Syndrome",266,2,"1.0"]
["C1455728","Acute fatty liver of pregnancy",266,2,"1.0"]
["C0036651","Senile lentigo",263,2,"0.9635667491119488"]
["C1328931","Multiple lentigines",263,2,"0.9568552516542852"]
["C1959635","Parvovirus B19 (disease)",258,2,"0.9999999999999987"]
["C2062441","Influenza A",258,2,"0.9999999999999987"]
["C0034089","Pulmonary Valve Stenosis",257,2,"0.6379953895721809"]
["C0410530","Metachondromatosis",257,2,"0.5134504142336583"]
["C2674723","RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER",254,2,"0.21217349147789383"]
["C2750732","Noonan Syndrome 6",254,2,"0.6037754916013387"]
["C2931732","Familial Paget\\'s disease of bone",251,2,"0.9105113961730806"]
["C4085251","PAGET DISEASE OF BONE 2, EARLY-ONSET",251,2,"0.9453216217988855"]
["C1096902","Infantile Sialic Acid Storage Disease",248,2,"0.9738967425002694"]
["C1096903","Sialic Acid Storage Disease, Finnish Type (disorder)",248,2,"0.9779830710329549"]
["C1833373","Inclusion Body Myopathy, Autosomal Recessive",247,2,"0.7660849717251884"]
["C1853926","NONAKA MYOPATHY",247,2,"0.8787835815789619"]
["C1867610","Macrocephaly mesodermal hamartoma spectrum",244,2,"1.0"]
["C3554519","COWDEN SYNDROME 6",244,2,"1.0"]
["C1858593","Limb-girdle muscular dystrophy, type 2E",242,2,"1.0"]
["C2930900","Beta-sarcoglycanopathy",242,2,"1.0"]
["C1835819","PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)",239,2,"1.0"]
["C4014479","CULLER-JONES SYNDROME",239,2,"1.0"]
["C0004135","Ataxia Telangiectasia",236,2,"0.8936160611457442"]
["C1876175","Ataxia-Telangiectasia Variant",236,2,"0.897806331270208"]
["C1112530","Leukoplakia of oral mucosa, incl tongue",235,2,"0.37552475762219273","Diseases of the digestive system"]
["C1136084","Plasma cell dyscrasia",235,2,"0.5666291094122263"]
["C0035436","Rheumatic Fever",234,2,"0.5235406747673592","Diseases of the circulatory system"]
["C0264490","Acute respiratory failure",234,2,"0.26144710725229064","Diseases of the respiratory system"]
["C0376532","Epilepsy, Rolandic",231,2,"0.9863768331648847"]
["C2363129","Benign Rolandic Epilepsy",231,2,"0.9835612799265155"]
["C1264031","Alloimmune thrombocytopenia",229,2,"1.0"]
["C3280114","Glycoprotein IA Deficiency",229,2,"1.0"]
["C0035328","Retinal Vein Occlusion",228,2,"0.48438346169904567"]
["C1527411","Thrombosis of retinal vein",228,2,"0.43261381398453713"]
["C3463916","Complement Factor I (C3 inactivator) deficiency",227,2,"0.9993580970880713"]
["C3809523","MACULAR DEGENERATION, AGE-RELATED, 13",227,2,"0.999362695947115"]
["C1449646","Primary Peritonitis",225,2,"1.0"]
["C1449647","Secondary Peritonitis",225,2,"1.0"]
["C1404521","Limb-girdle myopathy",224,2,"1.0"]
["C1842552","Limb-girdle muscle atrophy",224,2,"1.0"]
["C0796237","Mental Retardation, X-Linked 30",219,2,"0.9150805559414614"]
["C0796249","Mental Retardation, X-Linked 47",219,2,"0.8486593102436568"]
["C0796206","Atkin syndrome",218,2,"1.0"]
["C0796241","MENTAL RETARDATION, X-LINKED 34 (disorder)",218,2,"1.0"]
["C0272375","Antithrombin III Deficiency",215,2,"0.9051384178621672","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C3658294","Hereditary Antithrombin Deficiency",215,2,"0.8996165503129521"]
["C0751829","Gait Disorder, Sensorimotor",213,2,"1.0"]
["C0751830","Gait Disorders, Neurologic",213,2,"1.0"]
["C0221406","Pituitary-dependent Cushing\\'s disease",212,2,"0.7625877604484975","Endocrine, nutritional and metabolic diseases"]
["C0751220","Inappropriate ACTH Secretion Syndrome",212,2,"0.6683418467657741"]
["C2931662","Baraitser Brett Piesowicz syndrome",204,2,"0.6741613863336682"]
["C3489725","Pseudo-TORCH syndrome",204,2,"0.21494277222802854"]
["C0042875","Vitamin E Deficiency",202,2,"0.7260317392737631","Endocrine, nutritional and metabolic diseases"]
["C1848533","Ataxia with vitamin E deficiency",202,2,"0.7704929500618042"]
["C0015544","Failure to Thrive",200,2,"0.8155779028014215"]
["C4539857","CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME",200,2,"0.8677287779857149"]
["C0746882","Chronic neutropenia",199,2,"0.4265838371316968"]
["C2931027","Neutropenia, severe chronic",199,2,"0.5920100690213788"]
["C0272199","Familial Hemophagocytic Lymphocytosis",197,2,"0.8777966363934008","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C0877564","Lymphohistiocytosis",197,2,"0.7536397048762788"]
["C0155686","Acute myocarditis",196,2,"0.999197085045493","Diseases of the circulatory system"]
["C1863727","HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2",196,2,"0.999197507327757"]
["C0393934","Slow channel syndrome",193,2,"1.0"]
["C0751950","Neuromuscular Junction Diseases",193,2,"1.0"]
["C0236811","Chronobiology Disorders",191,2,"0.9982707714617883"]
["C0813142","Circadian Rhythm Disorders",191,2,"0.9982724805137935"]
["C0036330","Schistosomiasis mansoni",179,2,"0.988763024335123","Certain infectious and parasitic diseases"]
["C0242497","Intestinal schistosomiasis",179,2,"0.9886896464834624"]
["C0002965","Angina, Unstable",177,2,"0.9482857332387249","Diseases of the circulatory system"]
["C0086666","Myocardial Preinfarction Syndrome",177,2,"0.9459122721964325","Diseases of the circulatory system"]
["C0007302","Cartilage Diseases",176,2,"0.9201452741993069","Diseases of the musculoskeletal system and connective tissue"]
["C0085700","Chondromalacia",176,2,"0.9184773235965088","Diseases of the musculoskeletal system and connective tissue"]
["C1846142","HOYERAAL-HREIDARSSON SYNDROME",170,2,"0.8388276339539567"]
["C4023400","Generalized hypopigmentation of hair",170,2,"0.8741752036602615"]
["C0265965","Dyskeratosis Congenita",169,2,"0.32277755243137246"]
["C1148551","X-Linked Dyskeratosis Congenita",169,2,"0.5090320589263547"]
["C0024799","Marginal ulcer",167,2,"0.3288398176990978"]
["C0030920","Peptic Ulcer",167,2,"0.5447430931358818","Diseases of the digestive system"]
["C0023364","Leptospirosis",165,2,"1.0","Certain infectious and parasitic diseases"]
["C0043102","Weil Disease",165,2,"1.0","Certain infectious and parasitic diseases"]
["C0014476","Eperythrozoonosis",162,2,"0.9763688333050579"]
["C0026936","Mycoplasma Infections",162,2,"0.9765910390406776"]
["C0009326","Collagen Diseases",161,2,"0.2197946581904022"]
["C0029883","Otitis Media with Effusion",161,2,"0.2197946581904022","Diseases of the ear and mastoid process"]
["C0020428","Hyperaldosteronism",160,2,"0.6239842402638087","Endocrine, nutritional and metabolic diseases"]
["C1384514","Conn Syndrome",160,2,"0.503242080335723","Endocrine, nutritional and metabolic diseases"]
["C0268292","Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency",159,2,"0.9987346573900658"]
["C3669121","11-Beta-hydroxylase deficiency",159,2,"0.9986468328356723"]
["C0152020","Gastroparesis",154,2,"0.6538978464604585","Diseases of the digestive system"]
["C1841651","Heme Oxygenase 1 Deficiency",154,2,"0.6677664042361867"]
["C3853779","Neonatal Alloimmune Thrombocytopenia",153,2,"0.8671149155213366"]
["C3854603","FNAITP",153,2,"0.9015382542785494"]
["C0343206","Hypocomplementemic urticarial vasculitis",150,2,"0.7251035333722083","Diseases of the musculoskeletal system and connective tissue"]
["C4023113","Small vessel vasculitis",150,2,"0.4802384476127429"]
["C1384600","Systemic onset juvenile chronic arthritis",148,2,"0.37732833560863793","Diseases of the musculoskeletal system and connective tissue"]
["C1858558","Rheumatoid Arthritis, Systemic Juvenile",148,2,"0.3485405568182605"]
["C0004030","Aspergillosis",147,2,"0.7475659201937482","Certain infectious and parasitic diseases"]
["C0877445","Candidemia",147,2,"0.6222172173608798"]
["C1832529","HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION",145,2,"0.8828431613996804"]
["C1838163","OSLER-RENDU-WEBER SYNDROME 2",145,2,"0.9325814301758452"]
["C0006105","Brain Abscess",144,2,"0.993164548373027"]
["C1619711","Gastrointestinal telangiectasia",144,2,"0.9941168798983656"]
["C0238157","Benign hematuria",139,2,"1.0"]
["C2931254","Alport syndrome, recessive type",139,2,"0.9999999999999892"]
["C0078911","AIDS-Associated Nephropathy",136,2,"0.19624088942555618"]
["C0264657","Renal sclerosis with hypertension",136,2,"0.36556103101872844"]
["C0238305","Sickle cell nephropathy",135,2,"1.0"]
["C2749515","Collapsing glomerulopathy",135,2,"1.0"]
["C1855794","Bamforth syndrome",129,2,"0.9229300050028818"]
["C1968699","Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate",129,2,"0.8722026965642395"]
["C0271568","Laron Syndrome",128,2,"0.6274294294334117","Endocrine, nutritional and metabolic diseases"]
["C1858656","Short Stature, Idiopathic, Autosomal",128,2,"0.6423874513268573"]
["C0271737","Addison\\'s disease due to autoimmunity",127,2,"0.7301362487287018","Endocrine, nutritional and metabolic diseases"]
["C2103602","Autoimmune Primary Adrenal Insufficiency",127,2,"0.7475607575035587"]
["C0409952","Idiopathic osteoarthritis",125,2,"0.4268252862938259"]
["C1384584","Generalized osteoarthritis",125,2,"0.35786274943789437","Diseases of the musculoskeletal system and connective tissue"]
["C0027404","Narcolepsy",124,2,"0.6839876167731661","Diseases of the nervous system"]
["C0751362","Narcolepsy-Cataplexy Syndrome",124,2,"0.6825976610042889","Diseases of the nervous system"]
["C1456246","Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site",122,2,"0.4649887553430743"]
["C1861313","Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly",122,2,"0.7230931052519388"]
["C0041307","Tuberculosis, Bovine",119,2,"0.9585787824377588"]
["C0242172","Pelvic Inflammatory Disease",119,2,"0.959237567555831","Diseases of the genitourinary system"]
["C1970470","SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)",117,2,"1.0"]
["C3711368","Surfactant Dysfunction",117,2,"1.0"]
["C1833487","Varicella, Severe Recurrent",115,2,"1.0"]
["C1970859","Atypical Mycobacteriosis, Familial, X-Linked 2",115,2,"1.0"]
["C1844376","Granulomatous Disease, Chronic, X-Linked",114,2,"0.4099805259527406"]
["C3661525","Autosomal Recessive Chronic Granulomatous Disease",114,2,"0.6945676297421458"]
["C0038160","Staphylococcal Infections",109,2,"0.9748344539664633"]
["C1318973","Staphylococcus aureus infection",109,2,"0.9753952292699479","Certain infectious and parasitic diseases"]
["C0014848","Esophageal Achalasia",107,2,"0.8953453362940573","Diseases of the digestive system"]
["C0859976","Idiopathic achalasia of esophagus",107,2,"0.8959759896830298"]
["C0085179","Eosinophilia-Myalgia Syndrome",105,2,"0.9960081476747794"]
["C0751622","Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related",105,2,"0.9961411373722469"]
["C0037926","Compression of spinal cord",102,2,"0.7341634200005777","Diseases of the nervous system"]
["C0742803","Conus Medullaris Syndrome",102,2,"0.6864169130975052","Diseases of the nervous system"]
["C0014740","Erythema Chronicum Migrans",101,2,"1.0","Certain infectious and parasitic diseases"]
["C0017677","Glossitis, Benign Migratory",101,2,"1.0","Diseases of the digestive system"]
["C0342879","Primary hypercholesterolemia",92,2,"0.5072362079212815"]
["C0342880","Polygenic hypercholesterolemia",92,2,"0.47131209749419495"]
["C0221014","Reactive systemic amyloidosis",88,2,"0.8757721251653822"]
["C3536715","AA amyloidosis",88,2,"0.8195465827971186"]
["C0342611","Familial non-neuropathic amyloidosis",87,2,"0.9999999999999984","Endocrine, nutritional and metabolic diseases"]
["C1719313","Hereditary amyloid nephropathy",87,2,"0.9999999999999984","Endocrine, nutritional and metabolic diseases"]
["C1318520","Necrotizing vasculitis",81,2,"0.3452722686939388"]
["C4050407","Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis",81,2,"0.5754267412787729"]
["C0008728","Eosinophilic granulomatosis with polyangiitis",80,2,"0.4995302103214788","Diseases of the musculoskeletal system and connective tissue"]
["C2347126","Microscopic Polyarteritis",80,2,"0.6851341021195506","Diseases of the musculoskeletal system and connective tissue"]
["C0023241","Legionnaires\\' Disease",76,2,"0.6280891037626369","Certain infectious and parasitic diseases"]
["C0343528","Pontiac Fever",76,2,"0.4671620033578672","Certain infectious and parasitic diseases"]
["C0276447","Rhinovirus infection",75,2,"0.5989059067265652"]
["C0860564","Retinoic acid syndrome",75,2,"0.10735026511308464"]
["C0006274","Bronchiolitis, Viral",74,2,"1.0"]
["C0343378","Helicobacter-associated gastritis",74,2,"1.0"]
["C0034068","Pulmonary Eosinophilia",67,2,"0.9846045612758431"]
["C0340076","Asthmatic pulmonary eosinophilia",67,2,"0.9875146502406423","Diseases of the respiratory system"]
["C0008513","Chorioretinitis",58,2,"1.0","Diseases of the eye and adnexa"]
["C0271429","Acute otitis media",58,2,"1.0","Diseases of the ear and mastoid process"]
["C0740451","Granulomatous disorder",56,2,"0.7227409402498903"]
["C1334228","Intestinal Graft Versus Host Disease",56,2,"0.582080753975764"]
["C0040028","Thrombocythemia, Essential",47,2,"0.6078033982116717","Neoplasms"]
["C3489628","Thrombocytosis, Autosomal Dominant",47,2,"0.7157361144550303"]
["C1449626","CADASILM",42,2,"0.9999999999999983"]
["C4024918","Recurrent subcortical infarcts",42,2,"0.9999999999999983"]
["C0598428","genetic hypertension",39,2,"0.10835372021513352"]
["C0848548","hypertensive nephropathy",39,2,"0.2710858727539722","Diseases of the circulatory system"]
["C0266313","Allanson Pantzar McLeod syndrome",38,2,"0.9967420426276508"]
["C2678367","Renal Tubular Dysgenesis With Choanal Atresia And Athelia",38,2,"0.9967932374251773"]
["C0019154","Hepatic Vein Thrombosis",32,2,"0.9725823938598335","Diseases of the circulatory system"]
["C0856761","Budd-Chiari Syndrome",32,2,"0.969756014144591","Diseases of the circulatory system"]
["C0268790","Renal vascular disorder",31,2,"0.9330123872994867"]
["C3810332","AURICULOCONDYLAR SYNDROME 3",31,2,"0.9296815872533594"]
["C0031039","Pericardial effusion",27,2,"0.6271121230469775"]
["C0242426","Chylopericardium",27,2,"0.5052535960135892","Diseases of the circulatory system"]
["C0241832","Cerebrovascular Insufficiency",26,2,"0.9999999999999984"]
["C0596298","Cerebrovascular Occlusion",26,2,"0.9999999999999984"]
["C0018814","Heart Rupture, Post-Infarction",24,2,"0.9859785298241688"]
["C1866423","Quebec platelet disorder",24,2,"0.9861161833765683"]
["C0549410","Palmar-plantar erythrodysesthesia syndrome",21,2,"1.0"]
["C0852711","Sickle Cell Dactylitis",21,2,"1.0"]
["C0311370","Lupus anticoagulant disorder",17,2,"0.39169644528297426","Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism"]
["C2584409","Prothrombin G20210A mutation",17,2,"0.2175313471973938"]
["C0039103","Synovitis",13,2,"0.7609897081569665"]
["C0410574","Synovial Hypertrophy",13,2,"0.7390675909001504"]
["C2675767","EPIPHYSEAL DYSPLASIA, MULTIPLE, 6",12,2,"1.0"]
["C3279941","STICKLER SYNDROME, TYPE IV",12,2,"1.0"]
["C1855310","Megaepiphyseal dwarfism",10,2,"0.8592535939310193"]
["C4021538","Mild neurosensory hearing impairment",10,2,"0.9210085775509319"]
["C1848488","Pierre Robin syndrome with fetal chondrodysplasia",9,2,"0.7156576348555719"]
["C4520892","Otospondylomegaepiphyseal dysplasia",9,2,"0.6069410907392268"]
["C0393576","Chorea Acanthocytosis Syndrome",1,2,"0.45360518991412135"]
["C0687751","Acanthocytosis",1,2,"0.44297794826270537"]