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disease_id	disease_name	cluster	n_cluster_items
C0002395	Alzheimer\'s Disease	-1	1228
C0002726	Amyloidosis	-1	1228
C0002878	Anemia, Hemolytic	66	2
C0010674	Cystic Fibrosis	450	6
C0017665	Membranous glomerulonephritis	602	3
C0019202	Hepatolenticular Degeneration	678	2
C0022660	Kidney Failure, Acute	-1	1228
C0023890	Liver Cirrhosis	28	3
C0024115	Lung diseases	291	23
C0026769	Multiple Sclerosis	-1	1228
C0027726	Nephrotic Syndrome	-1	1228
C0034067	Pulmonary Emphysema	-1	1228
C0221757	alpha 1-Antitrypsin Deficiency	-1	1228
C0239946	Fibrosis, Liver	-1	1228
C0276496	Familial Alzheimer Disease (FAD)	109	5
C0750901	Alzheimer Disease, Early Onset	375	10
C3501835	alpha-1-Antitrypsin Deficiency, Autosomal Recessive	450	6
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	-1	1228
C0393770	Delayed Sleep Phase Syndrome	660	2
C0014544	Epilepsy	227	6
C0017168	Gastroesophageal reflux disease	-1	1228
C0020179	Huntington Disease	226	21
C0020538	Hypertensive disease	-1	1228
C0023520	Leukodystrophy	421	3
C0038220	Status Epilepticus	-1	1228
C0149958	Complex partial seizures	726	2
C0234533	Generalized seizures	71	2
C0270846	Epileptic drop attack	179	10
C0342708	Gamma aminobutyric acid transaminase deficiency	518	2
C0494475	Tonic - clonic seizures	517	5
C0543888	Epileptic encephalopathy	233	10
C0751495	Seizures, Focal	-1	1228
C0751651	Mitochondrial Diseases	617	3
C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	-1	1228
C2267233	Neonatal Hypotonia	-1	1228
C0002871	Anemia	100	2
C0003850	Arteriosclerosis	409	19
C0004153	Atherosclerosis	375	10
C0007222	Cardiovascular Diseases	405	2
C0007785	Cerebral Infarction	459	4
C0008312	Primary biliary cirrhosis	-1	1228
C0008384	Cholesterol Ester Storage Disease	-1	1228
C0010054	Coronary Arteriosclerosis	344	3
C0010068	Coronary heart disease	-1	1228
C0011847	Diabetes	316	5
C0011849	Diabetes Mellitus	267	19
C0013537	Eclampsia	-1	1228
C0015695	Fatty Liver	309	73
C0015696	Fatty Liver, Alcoholic	-1	1228
C0018099	Gout	618	2
C0019693	HIV Infections	304	19
C0020443	Hypercholesterolemia	118	11
C0020445	Hypercholesterolemia, Familial	260	6
C0020473	Hyperlipidemia	273	40
C0020476	Hyperlipoproteinemias	-1	1228
C0020557	Hypertriglyceridemia	268	3
C0022661	Kidney Failure, Chronic	342	2
C0023195	Lecithin Acyltransferase Deficiency	395	3
C0023895	Liver diseases	718	2
C0024534	Malaria, Cerebral	291	23
C0025517	Metabolic Diseases	267	19
C0027051	Myocardial Infarction	-1	1228
C0028754	Obesity	-1	1228
C0029408	Degenerative polyarthritis	235	3
C0031117	Peripheral Neuropathy	-1	1228
C0038454	Cerebrovascular accident	231	41
C0039292	Tangier Disease	719	11
C0042798	Low Vision	-1	1228
C0043325	Xanthomatosis	596	4
C0149721	Left Ventricular Hypertrophy	-1	1228
C0151718	Hypocholesterolemia	534	10
C0151744	Myocardial Ischemia	327	3
C0162429	Malnutrition	206	2
C0175694	Smith-Lemli-Opitz Syndrome	-1	1228
C0220756	Niemann-Pick Disease, Type C	-1	1228
C0221260	Dystrophia unguium	231	41
C0242231	Coronary Stenosis	232	6
C0242339	Dyslipidemias	369	2
C0242383	Age related macular degeneration	315	15
C0259817	Xerosis	633	3
C0270921	Axonal neuropathy	463	5
C0339573	Glaucoma, Primary Open Angle	-1	1228
C0473527	Hypoalphalipoproteinemias	-1	1228
C0521719	Clouding of corneal stroma	302	13
C0524620	Metabolic Syndrome X	410	7
C0745103	Hyperlipoproteinemia Type IIa	294	2
C0948008	Ischemic stroke	121	3
C0950123	Genetic Diseases, Inborn	346	3
C1258666	Myxoid cyst	619	3
C1260959	Drusen	428	4
C1263857	Peripheral axonal neuropathy	588	2
C1536085	Geographic Atrophy	127	2
C1704417	Hyperlipoproteinemia Type IIb	371	6
C1704429	Hypoalphalipoproteinemia, Familial	309	73
C1834405	Nail dysplasia	128	3
C1848736	Distal amyotrophy	-1	1228
C1867743	Premature coronary artery disease	-1	1228
C1956346	Coronary Artery Disease	250	5
C2237660	exudative macular degeneration	-1	1228
C2607914	Allergic rhinitis (disorder)	-1	1228
C2613439	Extramedullary Hematopoiesis (disorder)	192	2
C2711227	Steatohepatitis	208	3
C2931838	Familial HDL deficiency	256	3
C3165209	High density lipoprotein deficiency	426	4
C3665444	Neutrophilia (disorder)	-1	1228
C0000744	Abetalipoproteinemia	95	2
C0004623	Bacterial Infections	600	4
C0005941	Bone Diseases, Developmental	158	3
C0007789	Cerebral Palsy	391	2
C0013080	Down Syndrome	420	2
C0014457	Eosinophilia	-1	1228
C0015544	Failure to Thrive	279	25
C0015625	Fanconi Anemia	552	3
C0018939	Hematological Disease	409	19
C0021051	Immunologic Deficiency Syndromes	411	2
C0023518	Leukocytosis	328	8
C0030567	Parkinson Disease	234	32
C0040028	Thrombocythemia, Essential	37	6
C0040034	Thrombocytopenia	146	5
C0206141	Idiopathic Hypereosinophilic Syndrome	537	3
C0392514	Hereditary hemochromatosis	-1	1228
C0836924	Thrombocytosis	231	41
C1282609	Granulocytosis	-1	1228
C1863727	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2	291	23
C3469521	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	601	6
C3539781	Progressive cGVHD	637	2
C4539857	CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME	-1	1228
C0007570	Celiac Disease	423	5
C0009324	Ulcerative Colitis	621	3
C0018801	Heart failure	339	11
C0018802	Congestive heart failure	77	7
C0026848	Myopathy	-1	1228
C0041296	Tuberculosis	-1	1228
C0795950	Corpus callosum agenesis neuronopathy	236	3
C0867389	Chronic graft-versus-host disease	445	3
C0878787	Growth failure	232	6
C0011881	Diabetic Nephropathy	597	4
C0007194	Hypertrophic Cardiomyopathy	679	6
C0220994	Hyperammonemia	639	4
C0947912	Myasthenias	-1	1228
C3711645	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	454	3
C3887523	Very long chain acyl-CoA dehydrogenase deficiency	341	7
C0003886	Arthrogryposis	-1	1228
C0009421	Comatose	570	5
C0020615	Hypoglycemia	23	2
C0085605	Liver Failure	502	2
C0220710	Medium-chain acyl-coenzyme A dehydrogenase deficiency	464	2
C0520459	Necrotizing Enterocolitis	32	3
C0543541	HYPERGLYCINURIA (disorder)	268	3
C3554691	HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2	471	3
C0268635	Acyl-CoA dehydrogenase deficiency	556	2
C0342783	Deficiency of butyryl-CoA dehydrogenase	192	2
C0878544	Cardiomyopathies	547	5
C0011175	Dehydration	409	19
C0025521	Inborn Errors of Metabolism	166	10
C0268621	Hepatic methionine adenosyltransferase deficiency	-1	1228
C1536500	Deficiency of acetyl-CoA acetyltransferase	173	8
C2316810	Chronic kidney disease stage 5	-1	1228
C4048705	Hypermethioninemia	302	13
C0024530	Malaria	236	3
C0026650	Movement Disorders	279	25
C0026850	Muscular Dystrophy	712	3
C0026896	Myasthenia Gravis	653	4
C0027765	nervous system disorder	-1	1228
C0030552	Paresis	155	2
C0524851	Neurodegenerative Disorders	181	6
C0751882	Myasthenic Syndromes, Congenital	-1	1228
C0751950	Neuromuscular Junction Diseases	99	2
C0010346	Crohn Disease	396	2
C0028738	Nystagmus	-1	1228
C0029124	Optic Atrophy	217	8
C0029132	Disorder of the optic nerve	207	4
C0035222	Respiratory Distress Syndrome, Adult	226	21
C0038379	Strabismus	-1	1228
C0155016	Color Blindness, Red-Green	-1	1228
C0235946	Cerebral atrophy	477	4
C0270922	Peripheral demyelinating neuropathy	339	11
C0740279	Cerebellar atrophy	509	2
C0854723	Retinal Dystrophies	433	6
C3281192	INFANTILE CEREBELLAR-RETINAL DEGENERATION	-1	1228
C4020873	Infratentorial atrophy	-1	1228
C4225384	OPTIC ATROPHY 9	237	4
C0005745	Blepharoptosis	-1	1228
C0007193	Cardiomyopathy, Dilated	238	4
C0011168	Deglutition Disorders	-1	1228
C0032285	Pneumonia	333	3
C0175709	Centronuclear myopathy	-1	1228
C0206157	Myopathies, Nemaline	349	4
C0234958	Muscle degeneration	-1	1228
C0410180	Eichsfeld type congenital muscular dystrophy	97	3
C0410207	Tubular Aggregate Myopathy	-1	1228
C0686353	Muscular Dystrophies, Limb-Girdle	-1	1228
C0699743	Congenital muscular dystrophy (disorder)	-1	1228
C0751336	Distal Muscular Dystrophies	370	6
C0752282	Congenital Structural Myopathy	226	21
C0949658	Cardiomyopathy, Hypertrophic, Familial	-1	1228
C1834339	Myopathy, Actin, Congenital, with Excess of Thin Myofilaments	489	2
C1834558	Myopathy, Centronuclear, Autosomal Dominant	132	2
C2678065	Myofibrillar Myopathy	366	14
C2750536	Nemaline Myopathy 3, With Intranuclear Rods	335	5
C2750537	Myopathy, Actin, Congenital, With Cores	429	3
C3710589	Cap Myopathy	237	4
C3711377	Intranuclear Rod Myopathy	279	25
C3711389	Actin-Accumulation Myopathy	406	5
C4225181	MYOPATHY, SCAPULOHUMEROPERONEAL	458	2
C0003486	Aortic Aneurysm	-1	1228
C0003504	Aortic Valve Insufficiency	116	3
C0007766	Intracranial Aneurysm	-1	1228
C0007820	Cerebrovascular Disorders	711	3
C0008313	Cholangitis, Sclerosing	664	2
C0009782	Connective Tissue Diseases	680	2
C0013720	Ehlers-Danlos Syndrome	-1	1228
C0014175	Endometriosis	447	3
C0017668	Focal glomerulosclerosis	434	2
C0019189	Hepatitis, Chronic	-1	1228
C0022658	Kidney Diseases	239	35
C0024796	Marfan Syndrome	-1	1228
C0026654	Moyamoya Disease	240	3
C0033860	Psoriasis	654	4
C0036421	Systemic Scleroderma	231	41
C0038013	Ankylosing spondylitis	231	41
C0039446	Telangiectasis	261	3
C0042373	Vascular Diseases	-1	1228
C0162872	Aortic Aneurysm, Thoracic	-1	1228
C0238669	Aortic root dilatation	-1	1228
C0520463	Chronic active hepatitis	284	6
C0751003	Brain Aneurysm	273	40
C1290398	Cerebral arterial aneurysm	-1	1228
C1449563	Cardiomyopathy, Familial Idiopathic	435	6
C1812607	Aortic aneurysm and dissection	229	3
C1846837	Aortic Aneurysm, Familial Thoracic 2	128	3
C1876165	Copper-Overload Cirrhosis	720	6
C1968949	Cakut	316	5
C2673186	Aortic Aneurysm, Familial Thoracic 6	400	2
C2931384	Moyamoya disease 1	-1	1228
C3151201	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME	279	25
C3203102	Idiopathic pulmonary arterial hypertension	44	2
C3279690	MOYAMOYA DISEASE 5	-1	1228
C0003507	Aortic Valve Stenosis	232	6
C0004096	Asthma	309	73
C0009319	Colitis	-1	1228
C0010278	Craniosynostosis	-1	1228
C0014556	Epilepsy, Temporal Lobe	-1	1228
C0014848	Esophageal Achalasia	-1	1228
C0018784	Sensorineural Hearing Loss (disorder)	-1	1228
C0019163	Hepatitis B	571	2
C0020295	Hydronephrosis	-1	1228
C0021400	Influenza	-1	1228
C0026884	Mutism	310	13
C0029422	Osteochondrodysplasias	114	3
C0085110	Severe Combined Immunodeficiency	304	19
C0152439	Retinoschisis	74	5
C0162309	Adrenoleukodystrophy	-1	1228
C1280433	Lipoatrophy	-1	1228
C1846331	Juvenile-onset dystonia	-1	1228
C1855722	Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation	233	10
C1955869	Malformations of Cortical Development	-1	1228
C0007959	Charcot-Marie-Tooth Disease	215	3
C0034951	Refractive Errors	315	15
C0340427	Familial dilated cardiomyopathy	375	10
C1960469	Left ventricular noncompaction	-1	1228
C2677506	Cardiomyopathy, Familial Hypertrophic, 11	166	10
C2748552	Atrial Septal Defect 5	564	3
C3150681	CARDIOMYOPATHY, DILATED, 1R	-1	1228
C3150682	LEFT VENTRICULAR NONCOMPACTION 4	-1	1228
C4021133	Left ventricular noncompaction cardiomyopathy	436	2
C0029456	Osteoporosis	676	2
C0029459	Osteoporosis, Senile	681	3
C0042749	Viremia	165	2
C0452138	Sensorineural hearing loss, bilateral	39	4
C0948089	Acute Coronary Syndrome	526	11
C1843156	Progressive sensorineural hearing impairment	646	4
C1858172	Deafness, Autosomal Dominant 20	-1	1228
C3281235	BARAITSER-WINTER SYNDROME 2	572	8
C3711374	Nonsyndromic Deafness	-1	1228
C0008370	Cholestasis	309	73
C0042580	Vesico-Ureteral Reflux	299	3
C0042781	Visceral Myopathy	-1	1228
C0238062	Chronic intestinal pseudo-obstruction	110	8
C0266833	Visceral Myopathy, Familial	257	7
C1608393	Megacystis microcolon intestinal hypoperistalsis syndrome	46	2
C1835084	Megaduodenum and-or Megacystis	203	2
C1851710	LATERAL MENINGOCELE SYNDROME	-1	1228
C1863753	LIMB-MAMMARY SYNDROME	477	4
C1864996	Visceral Neuropathy, Familial, Autosomal Dominant	231	41
C3714581	Multicystic Dysplastic Kidney	-1	1228
C0011854	Diabetes Mellitus, Insulin-Dependent	37	6
C0035078	Kidney Failure	455	3
C0078911	AIDS-Associated Nephropathy	280	2
C0239981	Hypoalbuminemia	263	2
C0268731	Renal glomerular disease	387	4
C0333497	Segmental glomerulosclerosis	358	5
C0403397	Steroid-resistant nephrotic syndrome	394	20
C3266102	Steroid resistant nephrotic syndrome of childhood	291	23
C4049702	Focal Segmental Glomerulosclerosis, Not Otherwise Specified	497	5
C2751260	Macrothrombocytopenia	-1	1228
C3554663	BLEEDING DISORDER, PLATELET-TYPE, 15	-1	1228
C0014117	Endocardial Fibroelastosis	-1	1228
C0349788	Arrhythmogenic Right Ventricular Dysplasia	622	5
C2677338	Cardiomyopathy, Dilated, 1AA	102	2
C4225403	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION	-1	1228
C0017924	Glycogen Storage Disease Type V	455	3
C0006840	Candidiasis	119	11
C0036690	Septicemia	259	2
C0243026	Sepsis	264	2
C0406811	Reticulate acropigmentation of Kitamura	412	9
C3714534	dowling-degos disease	-1	1228
C3810041	ALZHEIMER DISEASE 18	460	4
C1857809	DEAFNESS, AUTOSOMAL RECESSIVE 44	511	24
C4021806	Prelingual sensorineural hearing impairment	134	3
C0011875	Diabetic Angiopathies	265	5
C0021390	Inflammatory Bowel Diseases	-1	1228
C0025945	Microangiopathy, Diabetic	-1	1228
C0028756	Obesity, Morbid	-1	1228
C0008489	Chorea	545	8
C0013384	Dyskinetic syndrome	65	2
C0393584	Benign Hereditary Chorea	-1	1228
C1623038	Cirrhosis	376	5
C1847627	Dyskinesia, Familial, with Facial Myokymia	266	3
C0002895	Anemia, Sickle Cell	354	10
C0267071	Oropharyngeal Dysphagia	307	14
C4225385	LETHAL CONGENITAL CONTRACTURE SYNDROME 8	233	10
C0004364	Autoimmune Diseases	209	5
C0009447	Common Variable Immunodeficiency	-1	1228
C0024141	Lupus Erythematosus, Systemic	32	3
C0087031	Juvenile-Onset Still Disease	316	5
C0178468	Autoimmune thyroid disease	368	2
C3495559	Juvenile arthritis	347	3
C3714758	Juvenile psoriatic arthritis	715	2
C0020452	Hyperemia	339	11
C0032002	Pituitary Diseases	561	10
C0878773	Overactive Bladder	-1	1228
C1704272	Benign Prostatic Hyperplasia	356	13
C0035334	Retinitis Pigmentosa	291	23
C0001339	Acute pancreatitis	452	5
C0015923	Fetal Alcohol Syndrome	309	73
C0023891	Liver Cirrhosis, Alcoholic	423	5
C0023896	Alcoholic Liver Diseases	273	40
C0030305	Pancreatitis	360	9
C0149521	Pancreatitis, Chronic	684	2
C0376670	Pancreatitis, Alcoholic	-1	1228
C1838867	PARKINSON DISEASE, MITOCHONDRIAL (disorder)	2	2
C3160718	PARKINSON DISEASE, LATE-ONSET	-1	1228
C0009088	Cluster Headache	234	32
C0003873	Rheumatoid Arthritis	537	3
C0017658	Glomerulonephritis	584	3
C0018799	Heart Diseases	-1	1228
C0038358	Gastric ulcer	69	3
C0085580	Essential Hypertension	119	11
C0178664	Glomerulosclerosis (disorder)	685	9
C0917798	Cerebral Ischemia	467	2
C1565489	Renal Insufficiency	628	5
C1719672	Severe Sepsis	328	8
C0037315	Sleep Apnea Syndromes	309	73
C0038525	Subarachnoid Hemorrhage	579	6
C0917805	Transient Cerebral Ischemia	72	3
C0027092	Myopia	426	4
C0033139	Primary Insomnia	-1	1228
C0152171	Idiopathic pulmonary hypertension	210	2
C0034069	Pulmonary Fibrosis	239	35
C3714636	Pneumonitis	-1	1228
C0002170	Alopecia	-1	1228
C0002736	Amyotrophic Lateral Sclerosis	409	19
C0007682	CNS disorder	534	10
C0007786	Brain Ischemia	-1	1228
C0011603	Dermatitis	111	2
C0014518	Toxic Epidermal Necrolysis	360	9
C0019158	Hepatitis	686	2
C0024117	Chronic Obstructive Airway Disease	98	5
C0030848	Peyronie Disease	663	2
C0038325	Stevens-Johnson Syndrome	-1	1228
C0042842	Vitamin A Deficiency	195	3
C0043119	Werner Syndrome	195	3
C0085786	Hamman-Rich syndrome	323	2
C0162311	Androgenetic Alopecia	334	3
C0242422	Parkinsonian Disorders	142	2
C0752098	Autosomal Dominant Parkinsonism	61	2
C0752105	Parkinsonism, Juvenile	367	6
C0850666	Infection caused by Helicobacter pylori	269	4
C1559154	Rash and Dermatitis Adverse Event Associated with Chemoradiation	144	10
C2931673	Ceroid lipofuscinosis, neuronal 1, infantile	589	9
C4083212	Alopecia, Male Pattern	-1	1228
C0032460	Polycystic Ovary Syndrome	234	32
C0751122	Infantile Severe Myoclonic Epilepsy	10	2
C3502809	Generalized Epilepsy with Febrile Seizures Plus	498	4
C0019340	Herpes NOS	293	2
C0162809	Kallmann Syndrome	336	3
C0086237	Epilepsy, Cryptogenic	549	2
C0005747	Blepharospasm	-1	1228
C1842852	EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2	-1	1228
C0004238	Atrial Fibrillation	572	8
C0020456	Hyperglycemia	-1	1228
C0020545	Hypertension, Renovascular	580	2
C0031099	Periodontitis	271	3
C0085612	Ventricular arrhythmia	284	6
C0155626	Acute myocardial infarction	551	5
C0264657	Renal sclerosis with hypertension	497	5
C0264716	Chronic heart failure	27	2
C1857276	Trichohepatoenteric Syndrome	182	3
C0001849	AIDS Dementia Complex	-1	1228
C0017601	Glaucoma	652	3
C0018213	Graves Disease	306	5
C0020676	Hypothyroidism	623	4
C0027059	Myocarditis	226	21
C0035204	Respiration Disorders	-1	1228
C0085129	Bronchial Hyperreactivity	141	8
C0155877	Allergic asthma	388	2
C0264408	Childhood asthma	413	6
C0271650	Impaired glucose tolerance	-1	1228
C0340100	High altitude pulmonary edema	-1	1228
C0375023	Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site	166	10
C0699949	airway disease	539	2
C1290884	Inflammatory disorder	46	2
C1536220	ST segment elevation myocardial infarction	343	9
C3662483	Allergic sensitization	65	2
C0017563	Gingival Diseases	127	2
C0031090	Periodontal Diseases	-1	1228
C0206081	Hyperandrogenism	372	4
C0342541	Precocious pubarche	694	12
C0740394	Hyperuricemia	372	4
C2362324	Pediatric Obesity	167	4
C3714619	Insulin resistance syndrome	658	2
C0472817	WHIM syndrome	717	4
C0268126	Adenylosuccinate lyase deficiency (disorder)	307	14
C4020860	Supratentorial atrophy	718	2
C4021759	Generalized myoclonic seizures	103	2
C0011615	Dermatitis, Atopic	568	3
C0013595	Eczema	279	25
C0003864	Arthritis	335	5
C0027339	Nail Diseases	574	3
C0029421	Osteochondritis Dissecans	249	5
C0029434	Osteogenesis Imperfecta	-1	1228
C0032273	Pneumoconiosis	598	2
C0038015	Spondyloepiphyseal Dysplasia	272	9
C0158252	Intervertebral disc disorder	227	6
C0158266	Intervertebral Disc Degeneration	359	6
C0162323	Polyarthritis	413	6
C0238288	Muscular Dystrophy, Facioscapulohumeral	350	5
C0263746	Osteoarthritis of the hand	-1	1228
C0949691	Spondylarthropathies	717	4
C2748544	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	274	6
C0007273	Carotid Artery Diseases	400	2
C0011884	Diabetic Retinopathy	-1	1228
C0030286	Pancreatic Diseases	216	4
C0035309	Retinal Diseases	694	12
C0040021	Thromboangiitis Obliterans	356	13
C0752347	Lewy Body Disease	537	3
C0856169	Endothelial dysfunction	402	7
C1800706	Idiopathic Pulmonary Fibrosis	-1	1228
C0014306	Enophthalmos	687	6
C0017919	Glycogen Storage Disease	189	3
C0017922	Glycogen Storage Disease Type III	-1	1228
C0340279	Ventricular hypertrophy	275	3
C1968739	Glycogen Storage Disease IIIA	635	2
C1968740	Glycogen Storage Disease IIIB	703	4
C1968741	Glycogen Storage Disease IIIC	307	14
C1968742	Glycogen Storage Disease IIID	-1	1228
C3695006	GLYCOGEN STORAGE DISEASE, TYPE IIIb	417	12
C3695007	GLYCOGEN STORAGE DISEASE, TYPE IIIa	497	5
C0005940	Bone Diseases	309	73
C0008372	Intrahepatic Cholestasis	-1	1228
C0011052	Prelingual Deafness	309	73
C0015300	Exophthalmos	-1	1228
C0030293	Pancreatic Insufficiency	542	7
C0034089	Pulmonary Valve Stenosis	375	10
C0267963	Exocrine pancreatic insufficiency	183	3
C0345030	Peripheral pulmonary artery stenosis	616	2
C0393591	AICARDI-GOUTIERES SYNDROME	263	2
C0687120	Nephronophthisis	-1	1228
C0730328	Central Serous Chorioretinopathy	721	3
C0741916	Cardiac defects	276	13
C0751587	CADASIL Syndrome	234	32
C0796126	AICARDI-GOUTIERES SYNDROME 1	133	2
C1112213	Cholestasis in newborn	161	4
C1857761	Alagille Syndrome 2	-1	1228
C1866053	Deafness, Congenital Heart Defects, and Posterior Embryotoxon	365	2
C1956125	Alagille Syndrome 1	514	2
C1956257	Pulmonary Stenosis	150	5
C4048273	Chorioretinal atrophy	231	41
C0002949	Aneurysm, Dissecting	152	2
C0002965	Angina, Unstable	277	3
C0017661	IGA Glomerulonephritis	258	2
C0019159	Hepatitis A	-1	1228
C0020428	Hyperaldosteronism	361	2
C0020459	Hyperinsulinism	105	2
C0020488	Hypernatremia	437	8
C0020501	Primary Hyperoxaluria	720	6
C0020544	Renal hypertension	179	10
C0020625	Hyponatremia	203	2
C0023892	Biliary cirrhosis	394	20
C0026267	Mitral Valve Prolapse Syndrome	591	3
C0035344	Retinopathy of Prematurity	21	2
C0085096	Peripheral Vascular Diseases	234	32
C0149931	Migraine Disorders	-1	1228
C0162871	Aortic Aneurysm, Abdominal	246	2
C0221155	Systolic hypertension	272	9
C0266313	Allanson Pantzar McLeod syndrome	231	41
C0268164	Primary hyperoxaluria, type I	356	13
C0268790	Renal vascular disorder	274	6
C0333291	Bleeding ulcer	373	2
C0339467	Proliferative retinopathy	235	3
C0340629	Aortic aneurysm without mention of rupture NOS	-1	1228
C0362046	Prediabetes syndrome	538	3
C0400966	Non-alcoholic Fatty Liver Disease	-1	1228
C0524909	Hepatitis B, Chronic	626	2
C0565599	Maternal hypertension	570	5
C0577631	Carotid Atherosclerosis	113	3
C0947751	Vascular inflammations	-1	1228
C1397307	Cardiac fibrosis	-1	1228
C1561643	Chronic Kidney Diseases	-1	1228
C2678367	Renal Tubular Dysgenesis With Choanal Atresia And Athelia	453	2
C0027404	Narcolepsy	272	9
C0027697	Nephritis	295	6
C0030920	Peptic Ulcer	231	41
C0751955	Brain Infarction	234	32
C1135196	Heart Failure, Diastolic	-1	1228
C1136249	Mental Retardation, X-Linked	-1	1228
C2931498	Mental Retardation, X-Linked 1	-1	1228
C0003838	Arterial Occlusive Diseases	-1	1228
C0004245	Atrioventricular Block	291	23
C0017086	Gangrene	-1	1228
C0018965	Hematuria	231	41
C0020500	Hyperoxaluria	310	13
C0021775	Intermittent Claudication	408	3
C0022650	Kidney Calculi	-1	1228
C0392525	Nephrolithiasis	-1	1228
C0442874	Neuropathy	79	3
C0451641	Urolithiasis	468	3
C1833683	NEPHROLITHIASIS, CALCIUM OXALATE	575	2
C1841659	Atrioventricular nodal disease	86	2
C3887709	Optic Neuropathy	452	5
C0001403	Addison Disease	240	3
C0001623	Adrenal gland hypofunction	-1	1228
C0004509	Azoospermia	-1	1228
C0011195	Dejerine-Sottas Disease (disorder)	679	6
C0011311	Dengue Fever	-1	1228
C0013264	Muscular Dystrophy, Duchenne	466	10
C0018054	Gonadal Dysgenesis, 46,XY	128	3
C0019100	Severe Dengue	-1	1228
C0020619	Hypogonadism	237	4
C0021364	Male infertility	688	2
C0022735	Klinefelter Syndrome	-1	1228
C0028960	Oligospermia	315	15
C0034013	Precocious Puberty	-1	1228
C0041408	Turner Syndrome	278	7
C0156394	Hypertrophy of clitoris	331	3
C0232939	Primary physiologic amenorrhea	694	12
C0266427	Testicular regression syndrome	-1	1228
C0271623	Hypogonadotropic hypogonadism	469	3
C0342384	Idiopathic hypogonadotropic hypogonadism	-1	1228
C0342482	X-linked Adrenal Hypoplasia	267	19
C0405580	Adrenal cortical hypofunction	-1	1228
C0432470	46, XY female	576	4
C1848296	DOSAGE-SENSITIVE SEX REVERSAL	15	2
C1868690	Hypoadrenocorticism, familial	622	5
C3489396	Hypogonadism, Isolated Hypogonadotropic	223	3
C3887896	Primary Adrenal Insufficiency	122	10
C0020305	Hydrops Fetalis	689	2
C0598608	Hyperhomocysteinemia	231	41
C1847720	Glycine N-Methyltransferase Deficiency	231	41
C3151058	S-adenosylhomocysteine hydrolase deficiency	305	7
C0001206	Acromegaly	119	11
C0006287	Bronchopulmonary Dysplasia	-1	1228
C0011616	Contact Dermatitis	201	7
C0014070	Encephalomyelitis	-1	1228
C0037116	Silicosis	-1	1228
C0037274	Dermatologic disorders	307	14
C0042900	Vitiligo	213	7
C0559470	Allergy to peanuts	-1	1228
C0860207	Drug-Induced Liver Disease	354	10
C1847835	VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	144	10
C3875321	Inflammatory dermatosis	526	11
C0025309	Meningoencephalitis	60	2
C0042164	Uveitis	-1	1228
C0085084	Motor Neuron Disease	438	4
C2363741	HIV-1 infection	184	3
C0002982	Angioid Streaks	593	2
C0004135	Ataxia Telangiectasia	275	3
C0019196	Hepatitis C	-1	1228
C0019348	Herpes Simplex Infections	-1	1228
C0020550	Hyperthyroidism	280	2
C0022596	Palmoplantar Keratosis	286	3
C0024236	Lymphedema	267	19
C0034065	Pulmonary Embolism	546	2
C0037926	Compression of spinal cord	309	73
C0040147	Thyroiditis	176	2
C0079588	Ichthyosis, X-Linked	226	21
C0085548	Autosomal Recessive Polycystic Kidney Disease	603	3
C0149871	Deep Vein Thrombosis	7	3
C0175704	LEOPARD Syndrome	535	3
C0334082	NEVUS, EPIDERMAL (disorder)	511	24
C0428791	Aortic valve calcification	244	9
C0431391	Hemimegalencephaly	216	4
C0870082	Hyperkeratosis	-1	1228
C0878684	SHORT syndrome	42	2
C1384666	hearing impairment	-1	1228
C1861975	Cafe au lait spots, multiple	119	11
C1866398	Proteus-Like Syndrome (disorder)	-1	1228
C1867610	Macrocephaly mesodermal hamartoma spectrum	234	32
C2713442	Polyposis, Adenomatous Intestinal	-1	1228
C2717836	Steroid Sulfatase Deficiency Disease	627	6
C3554519	COWDEN SYNDROME 6	239	35
C0000889	Acanthosis Nigricans	383	2
C0023787	Lipodystrophy	577	6
C0158986	Neonatal hypoglycemia	448	2
C0271694	Familial partial lipodystrophy	508	3
C0854110	Insulin-resistant diabetes mellitus	281	3
C1720860	Familial Partial Lipodystrophy, Type 2	-1	1228
C1720861	Familial Partial Lipodystrophy, Type 3	-1	1228
C3278384	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY	690	4
C0018995	Hemochromatosis	39	4
C0030554	Paresthesia	-1	1228
C0032708	Disorders of Porphyrin Metabolism	282	3
C0152025	Polyneuropathy	108	2
C0268328	Porphobilinogen synthase deficiency	283	2
C0162565	Acute intermittent porphyria	345	2
C0002896	Sideroblastic anemia	-1	1228
C0020433	Hyperbilirubinemia	296	4
C0026709	Mucopolysaccharidosis VI	-1	1228
C0085078	Lysosomal Storage Diseases	291	23
C0162530	Porphyria, Erythropoietic	250	5
C0162568	Erythropoietic Protoporphyria	233	10
C0221018	Hereditary sideroblastic anemia	-1	1228
C0271901	Microcytic hypochromic anemia (disorder)	-1	1228
C0282193	Iron Overload	37	6
C2677889	Protoporphyria, Erythropoietic, X-Linked Dominant	-1	1228
C0006111	Brain Diseases	566	2
C0008533	Hemophilia B	-1	1228
C0019061	Hemolytic-Uremic Syndrome	412	9
C0036202	Sarcoidosis	181	6
C0041349	Nephritis, Tubulointerstitial	-1	1228
C0042109	Urticaria	654	4
C0042769	Virus Diseases	-1	1228
C0085584	Encephalopathies	587	2
C0086445	Idiopathic Membranous Glomerulonephritis	135	2
C0162557	Liver Failure, Acute	675	3
C0268345	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	104	3
C0268743	Membranoproliferative Glomerulonephritis, Type II	430	6
C0275524	Coinfection	-1	1228
C0341439	Chronic liver disease	-1	1228
C0342185	Hyperthyroxinemia, Familial Dysalbuminemic	667	3
C0524910	Hepatitis C, Chronic	366	14
C0740380	Varicella zoster	-1	1228
C0751956	Acute Cerebrovascular Accidents	-1	1228
C1855796	Hypoproteinemia, Hypercatabolic	529	4
C3711387	Autosomal Recessive Primary Microcephaly	-1	1228
C0007795	Diffuse Cerebral Sclerosis of Schilder	623	4
C0011303	Demyelinating Diseases	-1	1228
C0037772	Spastic Paraplegia	-1	1228
C1527231	Adrenomyeloneuropathy	628	5
C1845408	Contiguous Abcd1-Dxs1375e Deletion Syndrome	641	2
C0022336	Creutzfeldt-Jakob disease	285	18
C0376329	New Variant Creutzfeldt-Jakob Disease	465	2
C0751254	Creutzfeldt-Jakob Disease, Familial	-1	1228
C0001957	Alcohol Withdrawal Delirium	-1	1228
C0030312	Pancytopenia	-1	1228
C0236970	Alcohol-Induced Disorders	679	6
C0338502	Hypoplasia of the optic nerve	-1	1228
C3554524	MICROPHTHALMIA, ISOLATED 8	163	11
C3714506	Meckel syndrome type 1	239	35
C0011351	Dental Enamel Hypoplasia	322	4
C0020757	Ichthyoses	-1	1228
C0020758	Congenital ichthyosis	-1	1228
C0023882	Little\'s Disease	135	2
C0024437	Macular degeneration	272	9
C0037231	Sjogren-Larsson Syndrome	140	2
C0041834	Erythema	-1	1228
C0338474	Central nervous system demyelination	308	2
C0008325	Cholecystitis	354	10
C0008350	Cholelithiasis	414	2
C0272066	Glycogen Storage Disease XII	291	23
C4025735	Nonspherocytic hemolytic anemia	163	11
C0001125	Acidosis, Lactic	526	11
C0016751	Hereditary fructose intolerance syndrome	722	3
C0085682	Hypophosphatemia	345	2
C0241910	Hepatitis, Autoimmune	544	3
C0268435	Renal Tubular Acidosis, Type II	71	2
C0011882	Diabetic Neuropathies	704	2
C0016952	Galactosemias	-1	1228
C0521707	Bilateral cataracts (disorder)	-1	1228
C0524524	Pseudoaphakia	-1	1228
C0020541	Hypertension, Portal	234	32
C0949664	Tauopathies	353	8
C3714948	PACHYONYCHIA CONGENITA 3	-1	1228
C0003123	Anorexia	313	2
C0005944	Metabolic Bone Disorder	137	9
C0011334	Dental caries	360	9
C0020437	Hypercalcemia	529	4
C0020438	Hypercalciuria	-1	1228
C0020503	Hyperparathyroidism, Secondary	89	2
C0020630	Hypophosphatasia	291	23
C0029453	Osteopenia	-1	1228
C0035579	Rickets	78	2
C0151699	Intracranial Hemorrhages	-1	1228
C0220743	Childhood hypophosphatasia (disorder)	169	5
C0263628	Tumoral calcinosis	-1	1228
C0268412	Infantile hypophosphatasia	306	5
C0268413	Adult hypophosphatasia (disorder)	-1	1228
C0520739	Hereditary pyropoikilocytosis	631	4
C0553730	Calcium pyrophosphate deposition disease	657	2
C1840322	ODONTOHYPOPHOSPHATASIA (disorder)	227	6
C2673477	Hypophosphatasia, Perinatal Lethal	552	3
C0085292	Stiff-Person Syndrome	-1	1228
C0410204	Myopathy, Centronuclear, Autosomal Recessive	496	4
C0023817	Hyperlipoproteinemia Type I	143	2
C0268560	Hyperglycinemia, Transient Neonatal	370	6
C0751748	Nonketotic Hyperglycinemia	716	2
C1704436	Peripheral Arterial Diseases	28	3
C0003872	Arthritis, Psoriatic	-1	1228
C0022680	Polycystic Kidney Diseases	200	3
C0393593	Dystonia Disorders	287	4
C1855681	Nephronophthisis, familial juvenile	239	35
C0162674	Chronic progressive external ophthalmoplegia	222	8
C1834846	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1	582	2
C1836460	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2	169	5
C1859317	Cataract and cardiomyopathy	272	9
C3809443	MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE	257	7
C4310676	MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT	-1	1228
C0085278	Antiphospholipid Syndrome	572	8
C0085409	Polyendocrinopathies, Autoimmune	439	4
C0028326	Noonan Syndrome	-1	1228
C0033626	Protein Deficiency	-1	1228
C0035305	Retinal Detachment	442	3
C0339546	Retinal Pigment Epithelial Detachment	-1	1228
C1861305	TARSAL-CARPAL COALITION SYNDROME	561	10
C0004763	Barrett Esophagus	536	6
C0014173	Endometrial Hyperplasia	518	2
C0017097	Gardner Syndrome	288	3
C0018133	Graft-vs-Host Disease	662	2
C0024814	Marinesco-Sjogren syndrome	-1	1228
C0033036	Atrial Premature Complexes	155	2
C0149678	Epstein-Barr Virus Infections	-1	1228
C0236048	Polyposis, Gastric	-1	1228
C0265325	Turcot syndrome (disorder)	694	12
C0398623	Thrombophilia	276	13
C0584960	Factor V Leiden mutation	146	5
C0600433	Activated Protein C Resistance	417	12
C1257915	Intestinal Polyposis	309	73
C1851124	Desmoid disease, hereditary	84	2
C1859309	Syndactyly Cenani Lenz type	311	4
C1868081	Juvenile Polyposis Coli	-1	1228
C2673218	BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder)	-1	1228
C2674616	FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder)	548	2
C2751492	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	279	25
C0268138	Xeroderma Pigmentosum, Complementation Group D	-1	1228
C1859598	ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA	-1	1228
C0014038	Encephalitis	691	6
C0019151	Hepatic Encephalopathy	116	3
C0024291	Lymphohistiocytosis, Hemophagocytic	630	6
C0025289	Meningitis	565	5
C0086438	Hypogammaglobulinemia	31	5
C0751781	Dentatorubral-Pallidoluysian Atrophy	-1	1228
C1845076	Lymphoproliferative Syndrome, X-Linked, 2	11	2
C1862939	AMYOTROPHIC LATERAL SCLEROSIS 1	242	3
C1862941	Amyotrophic Lateral Sclerosis, Sporadic	471	3
C0004943	Behcet Syndrome	691	6
C0016977	Gall Bladder Diseases	145	3
C0020474	Hyperlipidemia, Familial Combined	-1	1228
C0020480	Hyperlipoproteinemia Type IV	285	18
C0085220	Cerebral Amyloid Angiopathy	-1	1228
C0206245	Amyloid Neuropathies, Familial	374	5
C0268380	Systemic amyloidosis	-1	1228
C0268389	Amyloidosis, familial visceral	677	2
C0342608	Amyloid Polyneuropathy, British Type (disorder)	456	2
C0342883	Cholesteryl Ester Transfer Protein Deficiency	450	6
C0342895	Fish-Eye Disease	-1	1228
C0740340	Amyloidosis, Familial	354	10
C1848533	Ataxia with vitamin E deficiency	185	8
C2712907	obsolete Combined hyperlipidemia	304	19
C3149462	HYPERALPHALIPOPROTEINEMIA 1	511	24
C3889979	Periodic Fever Syndrome	593	2
C0041582	Ulcer	362	7
C0020479	Hyperlipoproteinemia Type III	77	7
C0020597	Hypobetalipoproteinemias	103	2
C0302314	Xanthoma	273	40
C0856727	Cholesterol gallstones	-1	1228
C0947622	Cholecystolithiasis	290	2
C1857970	Hypobetalipoproteinemia, Familial, 2	-1	1228
C1862596	Familial hypobetalipoproteinemia	292	2
C3888316	Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B	-1	1228
C0027126	Myotonic Dystrophy	559	3
C1720779	Apolipoprotein C-II Deficiency (disorder)	310	13
C3250443	MYOTONIC DYSTROPHY 1	692	4
C0282577	Congenital Disorders of Glycosylation	109	5
C0542037	Hypotriglyceridemia	407	2
C3151467	Apolipoprotein C-III Deficiency	88	3
C0002875	Cooley\'s anemia	520	4
C0005283	beta Thalassemia	297	4
C0007282	Carotid Stenosis	279	25
C0009952	Febrile Convulsions	-1	1228
C0011269	Dementia, Vascular	93	5
C0015397	Disorder of eye	350	5
C0017612	Glaucoma, Open-Angle	-1	1228
C0018790	Cardiac Arrest	545	8
C0019342	Genital Herpes	352	3
C0020258	Hydrocephalus, Normal Pressure	561	10
C0020481	Hyperlipoproteinemia Type V	622	5
C0024408	Machado-Joseph Disease	-1	1228
C0036489	Sea-Blue Histiocyte Syndrome	45	3
C0038868	Progressive supranuclear palsy	378	4
C0152136	Low Tension Glaucoma	-1	1228
C0162534	Prion Diseases	616	2
C0221505	Lesion of brain	266	3
C0236642	Pick Disease of the Brain	644	4
C0263420	Hyperkeratosis lenticularis perstans	136	2
C0268398	Familial lichen amyloidosis	239	35
C0270612	Leukoencephalopathies	402	7
C0333559	Infarction, Lacunar	588	2
C0338451	Frontotemporal dementia	8	3
C0338460	Argyrophilic grain disease	22	3
C0340288	Stable angina	-1	1228
C0342880	Polygenic hypercholesterolemia	557	4
C0349782	Ischemic cardiomyopathy	273	40
C0393570	Corticobasal degeneration	-1	1228
C0520679	Sleep Apnea, Obstructive	199	5
C0686347	Tardive Dyskinesia	-1	1228
C0751324	Multiple Sclerosis, Acute Fulminating	279	25
C0751713	Inclusion Body Myopathy, Sporadic	507	2
C0751783	Lafora Disease	26	2
C0751967	Multiple Sclerosis, Relapsing-Remitting	-1	1228
C0852949	Arteriopathic disease	-1	1228
C1402315	Vascular lesions	-1	1228
C1504404	Hippocampal sclerosis	679	6
C1842937	AURAL ATRESIA, CONGENITAL	304	19
C1843013	Alzheimer disease, familial, type 3	-1	1228
C1847200	ALZHEIMER DISEASE 4	50	2
C1862556	Apolipoprotein E, Deficiency or Defect of	-1	1228
C1862557	Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d	244	9
C1862558	Familial Hyperbeta- and Prebetalipoproteinemia	234	32
C1862560	Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis	464	2
C1862561	Broad-Betalipoproteinemia	-1	1228
C1862562	Floating-Betalipoproteinemia	-1	1228
C1863051	ALZHEIMER DISEASE 2	695	3
C1864205	Macular Degeneration, Age-Related, 1	-1	1228
C2673196	LIPOPROTEIN GLOMERULOPATHY	521	2
C2931784	Amyloid angiopathy	631	4
C2931859	Acquired CJD	-1	1228
C3469186	HEMOCHROMATOSIS, TYPE 1	545	8
C3714760	Drug-induced tardive dyskinesia	292	2
C3811918	GRN-related frontotemporal dementia	340	3
C3841475	beta^+^ Thalassemia	-1	1228
C0011848	Diabetes Insipidus	-1	1228
C0016667	Fragile X Syndrome	267	19
C0034152	Henoch-Schoenlein Purpura	348	2
C0037773	Spastic Paraplegia, Hereditary	-1	1228
C0231341	Premature aging syndrome	-1	1228
C0751157	FRAXE Syndrome	435	6
C1510489	Cerebral Amyloid Angiopathy, Hereditary	170	3
C1611743	Familial (FPAH)	317	4
C1832200	Peroxisome biogenesis disorders	52	2
C1863052	ALZHEIMER DISEASE, FAMILIAL, 1	356	13
C1863053	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy	341	7
C2751494	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT	129	6
C2751536	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED	298	14
C2931672	Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	-1	1228
C3549448	ALZHEIMER DISEASE, PROTECTION AGAINST	-1	1228
C3888307	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT	668	4
C3888308	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT	302	13
C3888309	CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT	198	3
C0001175	Acquired Immunodeficiency Syndrome	-1	1228
C0002893	Refractory anemias	307	14
C0018378	Guillain-Barre Syndrome	-1	1228
C0024131	Lupus Vulgaris	-1	1228
C0024138	Lupus Erythematosus, Discoid	702	4
C0024312	Lymphopenia	605	3
C0024535	Malaria, Falciparum	-1	1228
C0028840	Ocular Hypertension	278	7
C0038363	Aphthous Stomatitis	-1	1228
C0042170	Uveomeningoencephalitic Syndrome	-1	1228
C0042384	Vasculitis	341	7
C0086981	Sicca Syndrome	690	4
C0149745	Oral Ulcer	624	5
C0151449	Primary Sjögren\'s syndrome	-1	1228
C0162316	Iron deficiency anemia	353	8
C0206138	CREST Syndrome	-1	1228
C0221262	Poliosis	56	4
C0242584	Autoimmune thrombocytopenia	173	8
C0398650	Immune thrombocytopenic purpura	80	3
C0409974	Lupus Erythematosus	48	2
C0677607	Hashimoto Disease	276	13
C0702166	Acne	-1	1228
C1328840	Autoimmune Lymphoproliferative Syndrome	125	2
C1384600	Systemic onset juvenile chronic arthritis	-1	1228
C1527336	Sjogren\'s Syndrome	-1	1228
C1846545	Autoimmune Lymphoproliferative Syndrome Type 2B	632	2
C1866119	Autoimmune Lymphoproliferative Syndrome, Type IA	239	35
C1866120	Autoimmune Lymphoproliferative Syndrome, Type IB	435	6
C1866121	Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive	315	15
C2937365	Recurrent aphthous ulcer	319	4
C3241937	Nonalcoholic Steatohepatitis	-1	1228
C3714757	Juvenile rheumatoid arthritis	-1	1228
C3890205	Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	-1	1228
C3898105	Oligoarticular Juvenile Idiopathic Arthritis	617	3
C0001627	Congenital adrenal hyperplasia	-1	1228
C0010709	Cyst	-1	1228
C0025322	Premature Menopause	706	2
C0026847	Spinal Muscular Atrophy	234	32
C0027868	Neuromuscular Diseases	-1	1228
C0033575	Prostatic Diseases	231	41
C0034341	Pyruvate Carboxylase Deficiency Disease	511	24
C0039585	Androgen-Insensitivity Syndrome	300	2
C0085207	Gestational Diabetes	234	32
C0085215	Ovarian Failure, Premature	231	41
C0087012	Ataxia, Spinocerebellar	-1	1228
C0151313	Sensory neuropathy	175	3
C0236663	Alcohol withdrawal syndrome	152	2
C0268297	Pseudovaginal Perineoscrotal Hypospadias	304	19
C0268301	Reifenstein Syndrome	298	14
C0270764	Motor Neuron Disease, Lower	360	9
C0752120	Spinocerebellar Ataxia Type 1	231	41
C0752353	Atrophy, Muscular, Spinobulbar	310	13
C0852654	21-hydroxylase deficiency	343	9
C0878675	Erdheim-Chester Disease	241	2
C0936016	Testicular Feminization	314	2
C1285162	Degenerative disorder	-1	1228
C1839259	Bulbo-Spinal Atrophy, X-Linked	-1	1228
C2678098	Hypospadias 1, X-Linked	-1	1228
C2751824	46, XY Disorders of Sex Development	720	6
C2931847	Type I familial incomplete male pseudohermaphroditism	309	73
C4024896	Motor neuron atrophy	239	35
C0007196	Restrictive cardiomyopathy	301	15
C0010495	Cutis Laxa	356	13
C0026269	Mitral Valve Stenosis	387	4
C0033847	Pseudoxanthoma Elasticum	613	3
C0376359	Gronblad-Strandberg Syndrome	226	21
C1859727	Arterial calcification of infancy	648	2
C1867450	Pseudoxanthoma Elasticum, Incomplete	623	4
C3276161	ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2	668	4
C3279392	PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF	-1	1228
C3279393	PXE, MODIFIER OF SEVERITY OF	-1	1228
C0349426	Ferrochelatase deficiency	231	41
C0235833	Congenital diaphragmatic hernia	16	5
C0155320	Blindness, Cortical	461	3
C0268747	Diffuse mesangial sclerosis (disorder)	-1	1228
C3808953	NEPHROTIC SYNDROME, TYPE 8	144	10
C0002418	Amblyopia	608	2
C1302995	Congenital Fibrosis of the Extraocular Muscles	692	4
C1865915	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	303	2
C2681923	RETINITIS PIGMENTOSA 2 (disorder)	-1	1228
C0268548	Hyperargininemia	224	5
C0019187	Hepatitis, Alcoholic	-1	1228
C0020620	Hypohidrosis	-1	1228
C0079583	Ichthyosiform Erythroderma, Congenital	597	4
C0079584	Ichthyosis Vulgaris	-1	1228
C0268263	Multiple Sulfatase Deficiency Disease	-1	1228
C2677713	Ichthyosis, X-Linked, Complicated	-1	1228
C2720163	Placental Steroid Sulfatase Deficiency	-1	1228
C0033806	Pseudohypoparathyroidism	279	25
C0033835	Pseudopseudohypoparathyroidism	404	4
C0037822	Speech Disorders	39	4
C0268255	Farber Lipogranulomatosis	451	5
C0376532	Epilepsy, Rolandic	222	8
C0751778	Myoclonic Epilepsies, Progressive	307	14
C0751785	Unverricht-Lundborg Syndrome	166	10
C1834569	Jankovic Rivera syndrome	-1	1228
C1864100	PSEUDOHYPOPARATHYROIDISM, TYPE IB	442	3
C2363129	Benign Rolandic Epilepsy	583	2
C3494506	Pseudohypoparathyroidism, Type Ia	283	2
C4024613	Progressive distal muscular atrophy	252	2
C0013363	Dysautonomia	-1	1228
C0019569	Hirschsprung Disease	60	2
C0520680	Sleep Apnea, Central	302	13
C1145628	Autonomic nervous system disorders	411	2
C1275808	Congenital central hypoventilation	312	10
C1859049	CCHS WITH HIRSCHSPRUNG DISEASE	412	9
C0016037	Fibrodysplasia Ossificans Progressiva	284	6
C0268547	Argininosuccinic Aciduria	0	3
C0426970	Spastic Quadriplegia	329	5
C3809971	ASPARAGINE SYNTHETASE DEFICIENCY	449	5
C0154778	Myopia, Degenerative	8	3
C0206307	Canavan Disease	-1	1228
C0751663	Canavan Disease, Familial Form	279	25
C1836830	Developmental regression	-1	1228
C0175683	Citrullinemia	239	35
C0751751	Argininosuccinic Acid Synthetase Deficiency, Complete	-1	1228
C1863844	Adult-onset citrullinemia type 2	704	2
C3888090	Early onset torsion dystonia	-1	1228
C0005779	Blood Coagulation Disorders	-1	1228
C0079102	Cerebral Thrombosis	-1	1228
C0151945	Thrombosis of cerebral veins	110	8
C0242666	Protein S Deficiency	563	3
C0272375	Antithrombin III Deficiency	526	11
C0311370	Lupus anticoagulant disorder	630	6
C0398625	Protein C Deficiency	-1	1228
C1861172	Venous Thromboembolism	318	4
C1837530	AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency	-1	1228
C0005859	Bloom Syndrome	559	3
C0006267	Bronchiectasis	320	3
C0008311	Cholangitis	291	23
C0010823	Cytomegalovirus Infections	239	35
C0030469	Paranasal Sinus Diseases	99	2
C0035436	Rheumatic Fever	272	9
C0085583	Choreoathetosis	30	2
C0162538	Immunoglobulin A deficiency (disorder)	-1	1228
C0239105	Conjunctival telangiectasis	554	2
C0264490	Acute respiratory failure	285	18
C0268135	Xeroderma pigmentosum, group A	-1	1228
C0393525	Progressive cerebellar ataxia	-1	1228
C0398791	Nijmegen Breakage Syndrome	33	2
C0741796	Recurrent bronchitis	604	2
C1858391	ATAXIA-TELANGIECTASIA-LIKE DISORDER	273	40
C1876175	Ataxia-Telangiectasia Variant	694	12
C3489733	Oculomotor apraxia	75	2
C0003165	Anthracosis	-1	1228
C0018780	Hearing Loss, High-Frequency	317	4
C0020599	Hypocalciuria	302	13
C0268448	Primary hypomagnesemia (disorder)	287	4
C1835171	Hypomagnesemia 2, renal	259	2
C0022595	Keratosis Follicularis	252	2
C0037277	Skin Diseases, Genetic	-1	1228
C0085106	Familial benign pemphigus	-1	1228
C0265971	Acrokeratosis Verruciformis of Hopf	696	3
C1852296	Darier Disease, Acral Hemorrhagic Type	83	2
C1852297	Darier Disease, Segmental	-1	1228
C0019562	Von Hippel-Lindau Syndrome	321	5
C1832394	Deafness, Autosomal Recessive 12	-1	1228
C0796205	SPINOCEREBELLAR ATAXIA, X-LINKED 1	330	4
C1384514	Conn Syndrome	-1	1228
C0341106	Eosinophilic esophagitis	-1	1228
C1306759	Eosinophilic disorder	244	9
C3808899	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4	-1	1228
C4015062	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22	309	73
C1846707	SPINOCEREBELLAR ATAXIA 17	-1	1228
C3279708	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3	304	19
C0027877	Neuronal Ceroid-Lipofuscinoses	36	2
C0751383	Juvenile Neuronal Ceroid Lipofuscinosis	468	3
C0010964	Dandy-Walker Syndrome	421	3
C0040961	Tricuspid Valve Insufficiency	209	5
C0268355	Cutis Laxa, Autosomal Recessive, Type IIA	355	2
C0271183	Severe myopia	179	10
C4479387	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	362	7
C4479409	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID	-1	1228
C0020490	Hyperopia	697	3
C0023530	Leukopenia	409	19
C3151226	FICOLIN 3 DEFICIENCY	251	2
C4310819	IMMUNODEFICIENCY 47	331	3
C0020635	Hypopituitarism	337	4
C0037019	Shy-Drager Syndrome	267	19
C0162283	Nephrogenic Diabetes Insipidus	181	6
C0677501	Congenital Nephrogenic Diabetes Insipidus	108	2
C0687720	Central Diabetes Insipidus	278	7
C0747078	Generalized osteopenia	-1	1228
C0857122	Hyponatraemic	686	2
C1563705	Nephrogenic Diabetes Insipidus, Type I	703	4
C1845202	Nephrogenic Syndrome of Inappropriate Antidiuresis	95	2
C1857451	Acth-Independent Macronodular Adrenal Hyperplasia	634	2
C1563706	Nephrogenic Diabetes Insipidus, Type II	-1	1228
C0042880	Vitamin K Deficiency	594	2
C1843139	Hypercholanemia, Familial	-1	1228
C0265294	Pyle metaphyseal dysplasia	-1	1228
C2750066	Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	505	6
C0021831	Intestinal Diseases	-1	1228
C0271055	Rhegmatogenous retinal detachment	8	3
C0752166	Bardet-Biedl Syndrome	273	40
C2936862	Bardet-Biedl syndrome 1 (disorder)	338	2
C0018777	Conductive hearing loss	50	2
C0022578	Keratoconus	297	4
C2936863	Bardet-Biedl syndrome 2 (disorder)	-1	1228
C4225281	RETINITIS PIGMENTOSA 74	-1	1228
C0022679	Cystic kidney	-1	1228
C0028077	Night Blindness	394	20
C2936864	Bardet-Biedl syndrome 4 (disorder)	444	2
C0024591	Malignant hyperpyrexia due to anesthesia	-1	1228
C0268379	Pseudocholinesterase deficiency	231	41
C1283400	Butyrylcholinesterase deficiency	560	2
C1855794	Bamforth syndrome	691	6
C1867467	Acholinesterasemia	-1	1228
C1867469	Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type	534	10
C1867470	Hypocholinesterasemia, Fluoride-Resistant, Japanese Type	443	2
C1968699	Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate	359	6
C0016034	Breast Fibrocystic Disease	332	2
C0019069	Hemophilia A	534	10
C0020502	Hyperparathyroidism	688	2
C0023051	Laryngeal Diseases	-1	1228
C0024282	Lymphocytosis	597	4
C0221002	Hyperparathyroidism, Primary	-1	1228
C0268381	Primary amyloidosis	-1	1228
C0343641	Human papilloma virus infection	-1	1228
C1851841	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1	-1	1228
C0006145	Breast Diseases	321	5
C0010403	Cryoglobulinemia	-1	1228
C0021345	Infectious Mononucleosis	310	13
C0025237	Melnick-Needles Syndrome	-1	1228
C0027947	Neutropenia	162	3
C0033117	Priapism	-1	1228
C0036391	Schwartz-Jampel Syndrome	614	3
C0042344	Varicose Ulcer	627	6
C0043116	HMN (Hereditary Motor Neuropathy) Proximal Type I	561	10
C0085695	Chronic gastritis	138	2
C0339143	Thyroid associated opthalmopathies	304	19
C0746102	Chronic lung disease	676	2
C0747845	early pregnancy	570	5
C1264606	Persistent infection	-1	1228
C1847973	Persistent Polyclonal B-Cell Lymphocytosis	-1	1228
C1868678	THANATOPHORIC DYSPLASIA, TYPE I (disorder)	337	4
C2936664	Acquired Hypogammaglobulinemia	305	7
C0155017	Color Blindness, Blue	118	11
C0019243	Angioedemas, Hereditary	320	3
C0022104	Irritable Bowel Syndrome	376	5
C0035372	Rett Syndrome	-1	1228
C0035455	Rhinitis	6	3
C0040517	Gilles de la Tourette syndrome	-1	1228
C0043121	Wernicke Encephalopathy	279	25
C0085437	Meningitis, Bacterial	194	2
C0149875	Primary dysmenorrhea	567	2
C0206115	WAGR Syndrome	114	3
C0240066	Iron deficiency	444	2
C0752197	Adult-Onset Dystonias	551	5
C0949690	Spondylarthritis	113	3
C0021053	Immune System Diseases	572	8
C2931788	Atypical Hemolytic Uremic Syndrome	402	7
C3809950	COMPLEMENT FACTOR B DEFICIENCY	-1	1228
C0010308	Congenital Hypothyroidism	-1	1228
C0029454	Osteopetrosis	606	3
C0175699	Saethre-Chotzen Syndrome	231	41
C1861732	SPINOCEREBELLAR ATAXIA 29	-1	1228
C3536984	Vitamin D-Resistant Rickets, X-Linked	524	6
C0011633	Dermatomyositis	363	3
C0026691	Mucocutaneous Lymph Node Syndrome	-1	1228
C0085655	Polymyositis	462	3
C0206062	Lung Diseases, Interstitial	366	14
C0221056	Adult type dermatomyositis	163	11
C0342276	Maturity onset diabetes mellitus in young	328	8
C3150618	Maturity-onset diabetes of the young, type 11	536	6
C0036323	Schistosomiasis	217	8
C3279964	HYPERBILIVERDINEMIA	631	4
C0268362	Osteogenesis imperfecta type III (disorder)	-1	1228
C1535939	Pneumocystis jiroveci pneumonia	406	5
C3553887	OSTEOGENESIS IMPERFECTA, TYPE XIII	685	9
C0043202	Wolff-Parkinson-White Syndrome	-1	1228
C1833340	Synostotic Posterior Plagiocephaly	-1	1228
C1865343	OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE	186	5
C0014869	Peptic Esophagitis	-1	1228
C1833563	Cleft Lip, Congenital Healed	227	6
C1864689	MICROPHTHALMIA, SYNDROMIC 6 (disorder)	197	2
C2677434	OROFACIAL CLEFT 11	661	2
C2678503	AXENFELD-RIEGER SYNDROME, TYPE 3	536	6
C0268060	Juvenile hemochromatosis	228	5
C3854173	Pre-renal acute kidney injury	-1	1228
C1832940	JUVENILE POLYPOSIS OF STOMACH	-1	1228
C0265260	Chondrodysplasia, Grebe type	394	20
C1856738	Fibular hypoplasia and complex brachydactyly	74	5
C1862151	BRACHYDACTYLY, TYPE A1 (disorder)	350	5
C4225183	BRACHYDACTYLY, TYPE A1, D	-1	1228
C4225404	ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE	304	19
C0034091	Pulmonary Veno-Occlusive Disease (disorder)	144	10
C0039445	Hereditary hemorrhagic telangiectasia	698	7
C0162770	Right Ventricular Hypertrophy	-1	1228
C0340543	Familial primary pulmonary hypertension	364	4
C1969342	PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED	207	4
C1969343	Pulmonary Hypertension, Primary, Fenfluramine-Associated	-1	1228
C3697119	Pulmonary arterial hypertension associated with congenital heart disease	291	23
C3714844	Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia	-1	1228
C0020255	Hydrocephalus	273	40
C0003175	Anthrax disease	475	2
C0015526	Factor XII Deficiency	-1	1228
C0018023	Nodular Goiter	-1	1228
C0019087	Hemorrhagic Disorders	579	6
C0019624	Histiocytosis, Non-Langerhans-Cell	239	35
C0020514	Hyperprolactinemia	-1	1228
C0022593	Keratosis	371	6
C0030326	Panniculitis	542	7
C0040128	Thyroid Diseases	272	9
C0041409	Turner Syndrome, Male	636	2
C0398597	Histiocytic syndrome	-1	1228
C0587248	Costello syndrome (disorder)	533	3
C0677944	Sentinel node (disorder)	-1	1228
C0852283	Respiratory Distress Syndrome	372	4
C0920350	Autoimmune thyroiditis	449	5
C1262091	Lymphocytic infiltration	621	3
C1328931	Multiple lentigines	-1	1228
C1458140	Bleeding tendency	273	40
C1511789	Desmoplastic	521	2
C1562010	Langerhans cell histiocytosis of lung	-1	1228
C1840264	IMMUNE SUPPRESSION	136	2
C1861862	Familial Hypertrophic Cardiomyopathy Type 4	130	2
C1869123	Limb-girdle muscular dystrophy type 2A	-1	1228
C1968782	MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES	723	2
C2076600	Influenza due to Influenza A virus subtype H1N1	-1	1228
C3150970	NOONAN SYNDROME 7	394	20
C3150971	LEOPARD SYNDROME 3	153	2
C3809005	CARDIOFACIOCUTANEOUS SYNDROME 2	40	2
C3809006	CARDIOFACIOCUTANEOUS SYNDROME 3	643	6
C3809007	CARDIOFACIOCUTANEOUS SYNDROME 4	687	6
C4021533	Severe sensorineural hearing impairment	-1	1228
C0029882	Otitis Media	387	4
C0752130	Spinal Cord Ischemia	590	3
C0024143	Lupus Nephritis	106	5
C0343065	Symptomatic dermographism	209	5
C1862892	Hereditary Angioedema Type II	506	2
C2717906	Hereditary Angioedema Type I	247	2
C3150902	C1q DEFICIENCY	-1	1228
C0017567	Gingival Hypertrophy	85	2
C0268347	Ehlers-Danlos Syndrome, Type VIII	260	6
C3151078	Complement Component C1s Deficiency	279	25
C4310681	EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2	392	3
C3150275	COMPLEMENT COMPONENT 2 DEFICIENCY	12	2
C0014060	Encephalitis, St. Louis	163	11
C0030807	Pemphigus	2	2
C0030809	Pemphigus Vulgaris	-1	1228
C0042165	Anterior uveitis	-1	1228
C0263313	Pemphigus Foliaceus	524	6
C1969651	Macular Degeneration, Age-Related, 9	159	7
C0242852	Proliferative vitreoretinopathy	185	8
C1850109	Vitreoretinopathy	233	10
C0343047	Complement component 5 deficiency	341	7
C3810402	ECULIZUMAB, POOR RESPONSE TO	30	2
C2717865	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	-1	1228
C2676232	Complement Component 6 Deficiency	404	4
C0025303	Meningococcal Infections	-1	1228
C1864694	Complement Component 7 Deficiency	714	2
C3151080	COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	180	3
C0025294	Meningococcal meningitis	378	4
C3151189	C9 Deficiency	159	7
C3810042	MACULAR DEGENERATION, AGE-RELATED, 15	699	2
C0007760	Cerebellar Diseases	-1	1228
C0014548	Epilepsy, Generalized	390	2
C0014553	Absence Epilepsy	-1	1228
C0014877	Esotropia	309	73
C0022972	Lambert-Eaton Myasthenic Syndrome	366	14
C0031485	Phenylketonurias	526	11
C0154723	Migraine with Aura	-1	1228
C0206368	Exfoliation Syndrome	376	5
C0270860	Basilar-Type Migraine	-1	1228
C0270862	Hemiplegic migraine	228	5
C0338480	Common Migraine	118	11
C0338484	Familial Hemiplegic Migraine	350	5
C0338488	Alternating hemiplegia of childhood	-1	1228
C0751434	Classical phenylketonuria	-1	1228
C0751435	Hyperphenylalaninaemia	-1	1228
C0752123	Spinocerebellar Ataxia Type 5	293	2
C0752124	Spinocerebellar Ataxia Type 6 (disorder)	377	2
C0752125	Spinocerebellar Ataxia Type 7	-1	1228
C1720189	Episodic Ataxia	344	3
C1720416	Episodic ataxia type 2 (disorder)	-1	1228
C1720983	Channelopathies	402	7
C1832884	Hemiplegic migraine, familial type 1	-1	1228
C1832903	MIGRAINE, SPORADIC HEMIPLEGIC	229	3
C1865322	MIGRAINE, FAMILIAL HEMIPLEGIC, 2	295	6
C4310716	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42	273	40
C0154676	Organic writer\'s cramp	-1	1228
C1834570	Myoclonic dystonia	171	3
C3538999	DYSTONIA 23	119	11
C0023976	Long QT Syndrome	166	10
C0030443	Familial Periodic Paralysis	-1	1228
C0238357	Hyperkalemic periodic paralysis	-1	1228
C0238358	Hypokalemic periodic paralysis	-1	1228
C1141890	Congenital long QT syndrome	412	9
C1142166	Brugada Syndrome (disorder)	-1	1228
C1279412	periodic paralysis (finding)	-1	1228
C1832916	Timothy syndrome	626	2
C2678478	Brugada Syndrome 3	-1	1228
C2751898	Ventricular Fibrillation, Paroxysmal Familial, 1	371	6
C0018794	Heart Block	356	13
C0037052	Sick Sinus Syndrome	724	4
C0039240	Supraventricular tachycardia	-1	1228
C0220983	Metabolic alkalosis	424	2
C0428908	Sinus Node Dysfunction (disorder)	606	3
C3554018	SINOATRIAL NODE DYSFUNCTION AND DEAFNESS	-1	1228
C3809609	PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES	-1	1228
C0001916	Albinism	524	6
C0004106	Astigmatism	671	3
C0009398	Color vision defect	217	8
C0268505	Ocular albinism, type II	-1	1228
C0730290	Cone dystrophy	555	3
C1301509	Severe visual impairment	74	5
C1306122	Oguchi disease	-1	1228
C1845407	CONE-ROD DYSTROPHY, X-LINKED, 3	189	3
C1848172	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A	-1	1228
C1850362	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B	276	13
C1864877	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder)	728	2
C3495587	Night Blindness, Congenital Stationary, Type 1A	350	5
C4041558	Cone-rod synaptic disorder, congenital nonprogressive	166	10
C4073107	Incomplete congenital stationary night blindness	700	4
C4085590	Cone-Rod Dystrophies	218	2
C0154143	Toxic multinodular goiter	511	24
C0268446	Thyrotoxic periodic paralysis	185	8
C0751951	Central Core Myopathy (disorder)	-1	1228
C1145670	Respiratory Failure	-1	1228
C3714580	Hypokalemic periodic paralysis type 1	244	9
C1865020	Short QT Syndrome 1	381	3
C2678477	Brugada Syndrome 4	601	6
C0270850	Idiopathic generalized epilepsy	379	2
C0270853	Juvenile Myoclonic Epilepsy	380	2
C1866039	EPISODIC ATAXIA, TYPE 5	643	6
C0042514	Tachycardia, Ventricular	194	2
C0151636	Premature ventricular contractions	-1	1228
C0342791	Carnitine-Acylcarnitine Translocase Deficiency	-1	1228
C1832232	Peroxisome Biogenesis Disorder, Complementation Group C	384	2
C0037889	Hereditary spherocytosis	-1	1228
C0085578	Thalassemia Minor	356	13
C0271979	Thalassemia Intermedia	-1	1228
C4225320	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50	-1	1228
C0003499	Supravalvular aortic stenosis	-1	1228
C0004903	Beckwith-Wiedemann Syndrome	-1	1228
C0027662	Multiple Endocrine Neoplasia	385	5
C0029458	Osteoporosis, Postmenopausal	-1	1228
C0175702	Williams Syndrome	-1	1228
C0342190	C-cell hyperplasia of thyroid	-1	1228
C0342208	Multinodular goiter	394	20
C0029410	Osteoarthritis of hip	343	9
C0035828	Romano-Ward Syndrome	261	3
C0265216	X-linked hydrocephalus syndrome	386	2
C0340493	Paroxysmal familial ventricular fibrillation	609	2
C1631597	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	389	3
C1861821	CATARACT, MARNER TYPE	-1	1228
C2677794	Stress-induced polymorphic ventricular tachycardia	267	19
C3554047	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4	-1	1228
C4015671	LONG QT SYNDROME 14	550	2
C4053736	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	-1	1228
C4015695	LONG QT SYNDROME 15	244	9
C0032227	Pleural effusion disorder	-1	1228
C0041234	Chagas Disease	-1	1228
C0042847	Vitamin B 12 Deficiency	517	5
C0149530	Congenital heart block	343	9
C0151517	Complete atrioventricular block	-1	1228
C0409979	Neonatal Systemic lupus erythematosus	3	3
C4022560	Splanchnic vein thrombosis	296	4
C0042345	Varicosity	-1	1228
C0263361	Psoriasis vulgaris	285	18
C0035854	Rosacea	32	3
C4310800	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	451	5
C0039494	Temporomandibular Joint Disorders	-1	1228
C0039496	Temporomandibular Joint Dysfunction Syndrome	-1	1228
C0270952	Muscular Dystrophy, Oculopharyngeal	120	4
C0751337	X-Linked Emery-Dreifuss Muscular Dystrophy	558	8
C0917713	Becker Muscular Dystrophy	323	2
C0917981	Progressive Muscular Atrophy	393	2
C1299884	Eosinophilic myositis (disorder)	-1	1228
C1838244	TIBIAL MUSCULAR DYSTROPHY, TARDIVE	321	5
C1850794	Proximal amyotrophy	267	19
C2931687	Dysferlinopathy	-1	1228
C0007930	Chagas Cardiomyopathy	638	2
C0025295	Meningitis, Pneumococcal	-1	1228
C0031069	Familial Mediterranean Fever	-1	1228
C0268390	Muckle-Wells Syndrome	397	3
C0409818	Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	589	9
C0271680	Diabetic Polyneuropathies	144	10
C1856689	FRIEDREICH ATAXIA 1	-1	1228
C0001857	AIDS related complex	560	2
C0401151	Chronic diarrhea	-1	1228
C1096184	West Nile viral infection	639	4
C1858968	Autoimmune Lymphoproliferative Syndrome, Type IIA	-1	1228
C4011726	MYOPATHY, TUBULAR AGGREGATE, 1	-1	1228
C4015624	MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES	-1	1228
C0004775	Bartter Disease	446	5
C0020598	Hypocalcemia	67	2
C0020626	Hypoparathyroidism	562	3
C0039621	Tetany	-1	1228
C0042870	Vitamin D Deficiency	-1	1228
C0085859	Polyglandular Type I Autoimmune Syndrome	-1	1228
C0238339	Hereditary pancreatitis	527	2
C0342342	Idiopathic Hypoparathyroidism	722	3
C0342345	Hypoparathyroidism - autosomal dominant	168	3
C0342637	Hypocalciuric hypercalcemia, familial, type 1	-1	1228
C0345406	Neonatal hyperparathyroidism	256	3
C0391957	idiopathic epilepsy	-1	1228
C0543800	Idiopathic hypercalciuria	301	15
C1809471	Familial benign hypercalcemia	276	13
C1832615	HYPERPARATHYROIDISM, NEONATAL SEVERE	-1	1228
C1832648	Hypoparathyroidism familial isolated	301	15
C1840348	Hypocalciuric Hypercalcemia, Acquired	-1	1228
C1840402	HYPERPARATHYROIDISM 1	213	7
C1864729	HYPERPARATHYROIDISM 3	118	11
C3715128	HYPOCALCEMIA, AUTOSOMAL DOMINANT 1	-1	1228
C4048195	Autosomal dominant hypocalcemia	436	2
C0004045	Asphyxia Neonatorum	-1	1228
C0004610	Bacteremia	398	3
C0004626	Pneumonia, Bacterial	212	2
C0009207	Cockayne Syndrome	-1	1228
C0018203	Chronic granulomatous disease	399	2
C0038362	Stomatitis	685	9
C0043459	Zellweger Syndrome	265	5
C0085547	Phenylketonuria, Maternal	-1	1228
C0085576	Iron-Refractory Iron Deficiency Anemia	-1	1228
C0205734	Diabetes, Autoimmune	302	13
C0282527	Infantile Refsum Disease (disorder)	454	3
C3837958	Diabetes Mellitus, Ketosis-Prone	129	6
C0011644	Scleroderma	517	5
C0017152	Gastritis	224	5
C0020651	Hypotension, Orthostatic	-1	1228
C0221032	Familial generalized lipodystrophy	-1	1228
C0235480	Paroxysmal atrial fibrillation	685	9
C0748540	Scleroderma, Limited	463	5
C1258104	Diffuse Scleroderma	367	6
C1847582	Lipodystrophy with Congenital Cataracts and Neurodegeneration	353	8
C2675861	Lipodystrophy, Congenital Generalized, Type 3	37	6
C3809192	PULMONARY HYPERTENSION, PRIMARY, 3	328	8
C0038644	Sudden infant death syndrome	16	5
C0205700	Asymmetric Septal Hypertrophy	-1	1228
C1832560	RIPPLING MUSCLE DISEASE 2 (disorder)	-1	1228
C1832567	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C	68	2
C1838254	RIPPLING MUSCLE DISEASE 1	67	2
C1853698	Rippling muscle disease	-1	1228
C2678485	LONG QT SYNDROME 9 (disorder)	630	6
C3280443	MYOPATHY, DISTAL, TATEYAMA TYPE	471	3
C3495498	Cardiomyopathy, Familial Hypertrophic, 1 (disorder)	166	10
C0008928	Cleidocranial Dysplasia	204	2
C0263661	Disorder of skeletal system	640	2
C0271441	Chronic otitis media	570	5
C1838416	CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY	-1	1228
C1861516	Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly	267	19
C3150803	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	318	4
C4016301	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA	-1	1228
C3151211	OSTEOGENESIS IMPERFECTA, TYPE X	298	14
C0029411	Osteoarthropathy, Primary Hypertrophic	98	5
C0016412	Folic Acid Deficiency	681	3
C0019880	Homocystinuria	-1	1228
C0162835	Hypopigmentation disorder	-1	1228
C0751202	Cystathionine beta-Synthase Deficiency Disease	231	41
C3150344	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	315	15
C3495426	Homocysteinemia	119	11
C3502110	Homocystinuria, Pyridoxine-Responsive	164	3
C1863924	Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	158	3
C4014742	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3	179	10
C0024198	Lyme Disease	-1	1228
C1842180	CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)	77	7
C2675370	Capillary Malformation Without Arteriovenous Malformation	632	2
C2700553	Omenn Syndrome	630	6
C3810127	IMMUNODEFICIENCY 18	-1	1228
C3810128	IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT	-1	1228
C3810107	IMMUNODEFICIENCY 17	352	3
C0002874	Aplastic Anemia	450	6
C1857798	Immunodeficiency due to Defect in CD3-Zeta	-1	1228
C3151379	OKT4 EPITOPE DEFICIENCY	428	4
C1837065	CD8 Deficiency, Familial	223	3
C0343752	Acute HIV infection	239	35
C0006271	Bronchiolitis	401	3
C0024790	Paroxysmal nocturnal hemoglobinuria	-1	1228
C0036685	Septicaemia due to gram-negative organism, unspecified	262	3
C0242966	Systemic Inflammatory Response Syndrome	164	3
C0266929	Chronic Periodontitis	-1	1228
C0001768	Agammaglobulinemia	224	5
C0221026	X-linked agammaglobulinemia	719	11
C0876973	Infectious disease of lung	175	3
C2698259	Monoclonal B-Cell Lymphocytosis	526	11
C3150738	Antibody Deficiency due to Defect in CD19	433	6
C0011606	Exfoliative dermatitis	-1	1228
C0043194	Wiskott-Aldrich Syndrome	526	11
C0566602	Primary sclerosing cholangitis	341	7
C3495801	Granulomatosis with polyangiitis	573	2
C0393819	Polyradiculoneuropathy, Chronic Inflammatory Demyelinating	274	6
C0006272	Bronchiolitis Obliterans	188	2
C1519680	Tumor Immunity	309	73
C0014130	Endocrine System Diseases	727	2
C0038160	Staphylococcal Infections	282	3
C1318973	Staphylococcus aureus infection	-1	1228
C1842090	Platelet Glycoprotein IV Deficiency	375	10
C2718067	Alcoholic Steatohepatitis	322	4
C3853779	Neonatal Alloimmune Thrombocytopenia	172	2
C0014378	Enterovirus Infections	531	2
C0014550	Myoclonic Epilepsy	104	3
C0017205	Gaucher Disease	536	6
C0751779	Action Myoclonus-Renal Failure Syndrome	304	19
C1961835	Gaucher Disease, Type 1	412	9
C3810289	SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE	513	2
C0023348	Leprosy, Lepromatous	301	15
C0272236	Hyperimmunoglobulin M syndrome	-1	1228
C0398689	Hyper-IgM Immunodeficiency Syndrome, Type 1	130	2
C1279481	X-Linked Combined Immunodeficiency Diseases	-1	1228
C1704423	Milroy Disease	134	3
C1720956	Hyper-IgM Immunodeficiency Syndrome, Type 2	-1	1228
C1720957	Hyper-IgM Immunodeficiency Syndrome, Type 3	276	13
C1720958	Hyper-IgM Immunodeficiency Syndrome, Type 5	522	3
C0029118	Opportunistic Infections	298	14
C0268238	Triglyceride storage disease with ichthyosis	276	13
C0002876	Congenital dyserythropoietic anemia	186	5
C0079474	Hallopeau-Siemens Disease	643	6
C0796154	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	366	14
C0549410	Palmar-plantar erythrodysesthesia syndrome	310	13
C0852711	Sickle Cell Dactylitis	-1	1228
C2745948	Hyalinosis, Systemic	213	7
C1868684	EAR, PATELLA, SHORT STATURE SYNDROME	304	19
C1969653	MUNGAN SYNDROME	16	5
C3151126	MEIER-GORLIN SYNDROME 5	-1	1228
C4225222	TAKENOUCHI-KOSAKI SYNDROME	-1	1228
C0017154	Gastritis, Atrophic	154	2
C1861536	Blepharo-cheilo-dontic syndrome	189	3
C0013575	Ectodermal Dysplasia	-1	1228
C0730292	Macular dystrophy	173	8
C1832162	HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY	28	3
C1857041	Ectodermal dysplasia, ectrodactyly, and macular dystrophy	-1	1228
C0152244	Bone Cysts, Aneurysmal	-1	1228
C0948480	Coronary Restenosis	620	2
C2675488	Mental Retardation, Autosomal Dominant 3	248	5
C4225359	LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA	226	21
C4015156	MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE	-1	1228
C0014868	Esophagitis	366	14
C0271844	Parathyroid hyperplasia	309	73
C0851887	Adenoviral infections	-1	1228
C1864903	Hyperinsulinemic hypoglycemia	498	4
C0175693	Russell-Silver syndrome	698	7
C0796160	MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	-1	1228
C1846009	Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	-1	1228
C3463897	HYDATIDIFORM MOLE, RECURRENT, 1	-1	1228
C3714796	Isolated somatotropin deficiency	362	7
C0007867	Cervix Diseases	-1	1228
C0021847	Intestinal Pseudo-Obstruction	403	6
C0023652	Lichen Sclerosus et Atrophicus	-1	1228
C0221406	Pituitary-dependent Cushing\'s disease	255	2
C0549523	Oropharynx (excludes nasopharynx)	314	2
C0553694	Oropharyngeal disorders	-1	1228
C0795839	Chromosome 10, monosomy 10q	-1	1228
C1838547	MELANOMA-PANCREATIC CANCER SYNDROME	31	5
C1849452	SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)	-1	1228
C1866994	Ulnar-mammary syndrome	-1	1228
C2981142	Refractory anemia, without ringed sideroblasts, without excess blasts	-1	1228
C4015080	MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE	-1	1228
C1855705	Jejunal Atresia with Microcephaly and Ocular Anomalies	-1	1228
C0043208	Wolman Disease	144	10
C1837658	Gross motor development delay	282	3
C1850674	MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	642	2
C1853154	Nemaline Myopathy 7	173	8
C0001621	Adrenal Gland Diseases	139	4
C0029928	Ovarian Diseases	-1	1228
C0278110	Hemiplegia, Crossed	409	19
C3539168	PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	87	2
C0017605	Angle Closure Glaucoma	415	2
C0032290	Aspiration Pneumonia	239	35
C0162292	External Ophthalmoplegia	43	9
C0393929	Familial infantile myasthenia	567	2
C1834015	Progressive ptosis	394	20
C4310654	MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC	220	2
C0022408	Arthropathy	239	35
C0751362	Narcolepsy-Cataplexy Syndrome	311	4
C1865233	Muscular Dystrophy, Congenital, Megaconial Type	-1	1228
C0005697	Neurogenic Urinary Bladder	276	13
C0033770	Prune Belly Syndrome	409	19
C0262655	Recurrent urinary tract infection	-1	1228
C0008677	Bronchitis, Chronic	572	8
C0014547	Epilepsies, Partial	364	4
C0220669	Familial benign neonatal epilepsy	-1	1228
C0751509	Short Sleeper Syndrome	-1	1228
C0851578	Sleep Disorders	0	3
C1838049	Epilepsy, Nocturnal Frontal Lobe, Type 1	416	3
C3696898	Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	552	3
C1854335	Epilepsy, Nocturnal Frontal Lobe, Type 3	-1	1228
C3150891	COCOON SYNDROME	-1	1228
C1833372	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III	119	11
C0016781	Fuchs Endothelial Dystrophy	-1	1228
C0022340	Late-Infantile Neuronal Ceroid Lipfuscinosis	633	3
C0022797	Adult Neuronal Ceroid Lipofuscinosis	520	4
C0268281	Infantile neuronal ceroid lipofuscinosis	145	3
C0271385	Horizontal Nystagmus	181	6
C1834207	Ceroid Lipofuscinosis, Neuronal, Parry Type	-1	1228
C1836474	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7	-1	1228
C1876161	CEROID LIPOFUSCINOSIS, NEURONAL, 2	349	4
C0339527	Leber Congenital Amaurosis	-1	1228
C2931258	Amaurosis congenita of Leber, type 1	-1	1228
C0026946	Mycoses	-1	1228
C1319853	Asthma, Aspirin-Induced	302	13
C0041327	Tuberculosis, Pulmonary	375	10
C0206139	Lichen Planus, Oral	-1	1228
C0266999	Vesicular Stomatitis	53	3
C0497169	hiv-infection/aids	479	2
C0684275	Hemophilia, NOS	409	19
C0856825	Acute GVH disease	-1	1228
C0948192	Primary infection NOS	-1	1228
C4050407	Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis	619	3
C0022350	Jaundice, Chronic Idiopathic	-1	1228
C0268318	Cholestasis of pregnancy	27	2
C1096063	Drug Resistant Epilepsy	366	14
C1832409	Crisponi syndrome	-1	1228
C0019322	Umbilical hernia	715	2
C0020497	Cortical Congenital Hyperostosis	273	40
C0023931	Lobstein Disease	-1	1228
C0029899	Otosclerosis	-1	1228
C0268335	Ehlers-Danlos syndrome type 1	321	5
C0268358	Osteogenesis imperfecta, dominant perinatal lethal	375	10
C0268360	Osteogenesis imperfecta, recessive perinatal lethal	234	32
C0268363	Osteogenesis imperfecta type IV (disorder)	-1	1228
C0455988	Hydrops Fetalis, Non-Immune	-1	1228
C1852924	OI-EDS Combined Syndrome	62	3
C4225429	Ehlers-Danlos syndrome classic type	-1	1228
C1851801	EDS VIIB	274	6
C1857034	Ehlers-Danlos syndrome, cardiac valvular form	441	2
C2700425	EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	-1	1228
C0009326	Collagen Diseases	158	3
C0014084	Enchondromatosis	309	73
C0023234	Legg-Calve-Perthes Disease	-1	1228
C0265253	Stickler syndrome (disorder)	-1	1228
C0344290	Vitreoretinal degeneration	239	35
C0409959	Osteoarthritis, Knee	-1	1228
C0410480	Avascular Necrosis of Femur Head	511	24
C0700635	Strudwick syndrome	217	8
C0796173	Spondyloperipheral dysplasia short ulna	568	3
C1384584	Generalized osteoarthritis	515	4
C1835437	Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	-1	1228
C1836080	Stickler Syndrome, Type I, Nonsyndromic Ocular	418	3
C1836081	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT	633	3
C1848488	Pierre Robin syndrome with fetal chondrodysplasia	-1	1228
C1851536	Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness	239	35
C1852989	Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia	558	8
C1858079	Osteoarthritis with Mild Chondrodysplasia	534	10
C2020284	Stickler syndrome, type 1	666	4
C3887524	Skin Erosion	59	4
C4225273	SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE	358	5
C4520892	Otospondylomegaepiphyseal dysplasia	-1	1228
C0149781	Spontaneous pneumothorax	281	3
C0268337	Ehlers-Danlos syndrome, type 3 (disorder)	147	2
C0268338	Ehlers-Danlos Syndrome, Type IV	-1	1228
C0877015	Pelvic Organ Prolapse	106	5
C0917990	Acro-Osteolysis	543	4
C1257965	Compensatory Hyperinsulinemia	685	9
C2697932	Loeys-Dietz Syndrome	-1	1228
C0019191	Infectious Canine Hepatitis	187	3
C0265221	Walker-Warburg congenital muscular dystrophy	678	2
C0431718	Multiple renal cysts	167	4
C1305904	Familial hematuria	325	3
C1843512	BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE	201	7
C2673195	Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	-1	1228
C2733158	Cerebral Small Vessel Diseases	-1	1228
C3151519	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3	201	7
C4082173	Porencephaly	714	2
C3280970	PORENCEPHALY 2	64	3
C0027706	Hereditary nephritis	432	3
C0221239	Rapidly progressive glomerulonephritis	-1	1228
C0241908	Hematuria, Benign Familial	684	2
C0403440	Thin basement membrane disease	-1	1228
C0403529	Anti-Glomerular Basement Membrane Disease	-1	1228
C1563715	Andersen Syndrome	409	19
C1567741	Alport Syndrome	-1	1228
C1567742	Alport Syndrome, X-Linked	231	41
C1567743	Alport Syndrome, Autosomal Dominant	309	73
C1567744	Alport Syndrome, Autosomal Recessive	490	3
C1855179	CATARACT, ANTERIOR POLAR	515	4
C1859726	ARTERIAL TORTUOSITY SYNDROME	434	2
C0032897	Prader-Willi Syndrome	248	5
C0162635	Angelman Syndrome	253	2
C3806737	DEAFNESS, X-LINKED 6	-1	1228
C0149725	Lower respiratory tract infection	305	7
C0410179	Scleroatonic muscular dystrophy	419	4
C0749379	Thoracolumbar scoliosis	356	13
C1834674	Bethlem myopathy	463	5
C1850671	Myosclerosis, Autosomal Recessive	-1	1228
C0002312	alpha-Thalassemia	166	10
C1456873	alpha^+^ Thalassemia	-1	1228
C3279941	STICKLER SYNDROME, TYPE IV	122	10
C0221775	Lumbar disc disease	-1	1228
C1832998	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3	-1	1228
C3152083	EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY	120	4
C0265289	Metaphyseal chondrodysplasia Schmid type	168	3
C0751885	Myasthenic Syndromes, Congenital, Slow Channel	208	3
C4225235	MYASTHENIC SYNDROME, CONGENITAL, 19	-1	1228
C1838280	Epiphyseal dysplasia, multiple, 1	-1	1228
C1851537	Fairbank disease	244	9
C1851538	Epiphyseal Dysplasia, Ribbing Type	-1	1228
C0012236	DiGeorge Syndrome	701	2
C0016053	Fibromyalgia	597	4
C0220704	Shprintzen syndrome	515	4
C0795907	CONOTRUNCAL ANOMALY FACE SYNDROME	-1	1228
C2936346	22q11 Deletion Syndrome	149	5
C3178789	Widespread Chronic Pain	-1	1228
C0023343	Leprosy	109	5
C0027888	Hereditary Motor and Sensory Neuropathies	376	5
C0205713	Roussy-Levy Syndrome (disorder)	422	3
C4015029	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	-1	1228
C0268237	Cytochrome-c Oxidase Deficiency	-1	1228
C0796070	MICROPHTHALMIA, SYNDROMIC 7	38	2
C1853235	Sclerocornea	304	19
C3550921	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2	655	5
C0021171	Bloch Sulzberger syndrome	-1	1228
C0023264	Leigh Disease	-1	1228
C0042974	von Willebrand Disease	53	3
C0272315	Coagulation factor deficiency syndrome	295	6
C0272322	Severe hereditary factor VIII deficiency disease	-1	1228
C0272324	Mild hereditary factor VIII deficiency disease	166	10
C0410189	Muscular Dystrophy, Emery-Dreifuss	309	73
C1096116	Acquired haemophilia	226	21
C1264039	von Willebrand Disease, Type 1	-1	1228
C1282971	von Willebrand Disease, Type 2B	683	2
C1282975	von Willebrand Disease, Type 2N	612	2
C1856883	FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF	-1	1228
C3853540	Aspirin exacerbated respiratory disease	-1	1228
C0020555	Hypertrichosis	-1	1228
C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	-1	1228
C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	-1	1228
C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	601	6
C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	683	2
C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	535	3
C1858424	Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency	239	35
C2748884	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC	-1	1228
C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	425	2
C3554534	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2	295	6
C0014335	Enteritis	336	3
C0162531	Hereditary Coproporphyria	185	8
C0162566	Porphyria Cutanea Tarda	279	25
C0342856	Coproporphyria	375	10
C0342859	Harderoporphyria	-1	1228
C1844831	Cleft Palate with Ankyloglossia	-1	1228
C4020827	Neonatal hemolytic anemia	366	14
C1829703	Carnitine palmitoyl transferase 1A deficiency	468	3
C0342790	Carnitine palmitoyl transferase 2 deficiency	427	2
C1833508	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	543	4
C1833511	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	409	19
C1833518	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	-1	1228
C0543697	Mixed cryoglobulinemia	682	2
C3542922	IMMUNODEFICIENCY, COMMON VARIABLE, 7	309	73
C0268583	Methylmalonic acidemia	149	5
C1855119	Methylmalonic aciduria	196	2
C0032339	Rothmund-Thomson syndrome	596	4
C0035934	Rubinstein-Taybi Syndrome	463	5
C0454455	Mirror movements disorder	114	3
C0010481	Cushing Syndrome	589	9
C0035333	Retinitis	466	10
C0037769	West Syndrome	34	2
C0085166	Bacterial Vaginosis	398	3
C0342443	Adrenal Cushing\'s syndrome	264	2
C0175697	Van der Woude syndrome	524	6
C1868682	Paroxysmal kinesigenic choreoathetosis	-1	1228
C0023281	Leishmaniasis	-1	1228
C0023290	Leishmaniasis, Visceral	691	6
C0029443	Osteomyelitis	-1	1228
C0035435	Rheumatism	286	3
C0039730	Thalassemia	-1	1228
C0156147	Crohn\'s disease of large bowel	-1	1228
C0678202	Regional enteritis	-1	1228
C0694549	Community acquired pneumonia	396	2
C0741923	cardiac event	-1	1228
C0949272	IIeocolitis	362	7
C1142127	Pneumococcal bacteraemia	-1	1228
C1301700	Cardiovascular morbidity	179	10
C3899278	Early Rheumatoid Arthritis	309	73
C0206172	Diabetic Foot	271	3
C0029401	Osteitis Deformans	656	2
C3711381	Hereditary Diffuse Leukoencephalopathy with Spheroids	126	2
C0001824	Agranulocytosis	97	3
C0007384	Cataplexy	273	40
C0007684	Central Nervous System Infection	-1	1228
C0020875	Ileal Diseases	430	6
C0025007	Measles	15	2
C0030481	Tropical Spastic Paraparesis	335	5
C0034050	Pulmonary Alveolar Proteinosis	437	8
C0035369	Retroviridae Infections	305	7
C0041318	Tuberculosis, Meningeal	398	3
C0282488	Interstitial Cystitis	-1	1228
C0740302	5q-syndrome	-1	1228
C0917799	Hypersomnia	572	8
C1802398	Chromosome 5, trisomy 5q	298	14
C1852467	Creutzfeldt-Jakob Disease, Sporadic	-1	1228
C2900450	Other Creutzfeldt-Jakob disease	287	4
C3808553	Bone marrow failure syndrome 1	624	5
C3810350	Bone marrow failure syndrome 2	611	2
C0019156	Hepatic Veno-Occlusive Disease	687	6
C0162296	Polyarthralgia	96	2
C0221023	Cyclic neutropenia	-1	1228
C0272173	Myelokathexis	330	4
C0746883	Febrile Neutropenia	274	6
C1853118	Severe congenital neutropenia	502	2
C0543669	Neutrophilia, Hereditary	469	3
C4310764	NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE	239	35
C0018621	Hay fever	527	2
C0239849	Harlequin Fetus	-1	1228
C0598226	Harlequin type ichthyosis	-1	1228
C0151516	Thyroid Hypoplasia	561	10
C0152101	Hypoplastic Left Heart Syndrome	-1	1228
C0220697	POLYDACTYLY, POSTAXIAL	339	11
C1260873	Aortic valve disorder	-1	1228
C1843687	ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	312	10
C1857586	CONOTRUNCAL HEART MALFORMATIONS (disorder)	-1	1228
C1879286	Hereditary bundle branch system defect	298	14
C2673630	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder)	-1	1228
C2931689	Dystrophia myotonica 2	-1	1228
C3276096	ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS	-1	1228
C3280785	VENTRICULAR SEPTAL DEFECT 3	301	15
C3280795	HYPOPLASTIC LEFT HEART SYNDROME 2	267	19
C3502353	Atrial Septal Defect with Atrioventricular Conduction Defects	-1	1228
C0265341	Rieger syndrome	-1	1228
C0395837	Stenosis of external auditory canal	-1	1228
C1956097	Wolf-Hirschhorn Syndrome	304	19
C0220993	Cystathioninuria	595	2
C0268616	Gamma-cystathionase deficiency	291	23
C3495552	Cystathionase Deficiency	622	5
C0002171	Alopecia Areata	226	21
C0271737	Addison\'s disease due to autoimmunity	234	32
C1304470	Generalized vitiligo	284	6
C1739108	Latent Autoimmune Diabetes in Adults	371	6
C1960272	Latent autoimmune diabetes mellitus in adult	-1	1228
C2103602	Autoimmune Primary Adrenal Insufficiency	-1	1228
C4015214	CTLA4 Haploinsufficiency	309	73
C1837029	Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	-1	1228
C1868569	Patterned dystrophy of retinal pigment epithelium	385	5
C0155773	Portal vein thrombosis	643	6
C0394005	Ataxic cerebral palsy	722	3
C1851402	Exudative vitreoretinopathy 1	-1	1228
C3554449	MENTAL RETARDATION, AUTOSOMAL DOMINANT 19	607	3
C4539767	EXUDATIVE VITREORETINOPATHY 7	441	2
C0679362	Tuberculosis, extrapulmonary	131	2
C4014617	IMMUNODEFICIENCY 24	-1	1228
C0035235	Respiratory Syncytial Virus Infections	-1	1228
C1998028	Photoreceptor degeneration	-1	1228
C0026918	Mycobacterium Infections	-1	1228
C1844376	Granulomatous Disease, Chronic, X-Linked	-1	1228
C1863999	Peroxisome Biogenesis Disorder, Complementation Group D	285	18
C1970859	Atypical Mycobacteriosis, Familial, X-Linked 2	589	9
C0342778	Ubiquinone dehydrogenase deficiency	-1	1228
C1852372	MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	318	4
C3809553	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6	432	3
C0850741	Smoker\'s lung	-1	1228
C0025637	Methemoglobinemia	226	21
C0809983	Schizophrenia and related disorders	-1	1228
C1276127	Sporadic porphyria cutanea tarda	144	10
C0017606	Primary angle-closure glaucoma	337	4
C1533041	Primary congenital glaucoma	24	2
C1842028	GLAUCOMA 1, OPEN ANGLE, A	-1	1228
C1856439	GLAUCOMA 3, PRIMARY CONGENITAL, A	406	5
C3278152	GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET (disorder)	547	5
C3278153	GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET	-1	1228
C4310623	ANTERIOR SEGMENT DYSGENESIS 6	472	2
C0750384	Coumarin Resistance	-1	1228
C0031269	Peutz-Jeghers Syndrome	213	7
C2936791	Antley-Bixler Syndrome, Autosomal Dominant	186	5
C0013295	Duodenal Ulcer	216	4
C0086367	Gonadotropin-Resistant Ovary Syndrome	-1	1228
C0677659	Gastro-esophageal reflux disease with esophagitis	667	3
C3494522	Hypergonadotropic Ovarian Failure, X-Linked	-1	1228
C0266807	Acute gastrointestinal hemorrhage	309	73
C2608079	WARFARIN SENSITIVITY (disorder)	416	3
C0004782	Basal Ganglia Diseases	-1	1228
C4275179	Young onset Parkinson disease	242	3
C0040479	Torsades de Pointes	225	2
C0342474	Lipoid congenital adrenal hyperplasia	-1	1228
C0342492	Adrenal hypertrophy or hyperplasia	553	2
C1621895	Adrenal hyperplasia	557	4
C3151055	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	589	9
C3502131	Adrenal Insufficiency, Congenital	-1	1228
C0268292	Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	234	32
C0342546	Premature adrenarche	638	2
C0342549	Familial Testotoxicosis	309	73
C1291314	Deficiency of monooxygenase	359	6
C3669121	11-Beta-hydroxylase deficiency	-1	1228
C0221043	Liddle Syndrome	249	5
C0268293	Corticosterone Methyl Oxidase Type I Deficiency	412	9
C3463917	Corticosterone Methyl Oxidase Type II Deficiency	312	10
C3854315	Pseudoprimary hyperaldosteronism	412	9
C0242342	Sheehan Syndrome	-1	1228
C0268285	Adrenal hyperplasia, congenital, type 5	-1	1228
C1291557	Deficiency of lyase	118	11
C3277849	17,20-Lyase Deficiency, Isolated	278	7
C0853662	Oestrogen deficiency	-1	1228
C1960539	Aromatase deficiency	606	3
C1859995	Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency	-1	1228
C4273964	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	-1	1228
C0268080	Hypercalcemia, Idiopathic, of Infancy	474	2
C3536983	Familial Hypophosphatemic Rickets	-1	1228
C4310232	Hypercalcemia, Infantile, 1	579	6
C4310473	Hypercalcemia, infantile, 2	91	5
C0238052	Xanthomatosis, Cerebrotendinous	-1	1228
C0221468	Vitamin D-dependent rickets	118	11
C0268689	Vitamin D-dependent rickets, type 1	413	6
C0342646	Vitamin D-Dependent Rickets, Type 2A	43	9
C0020639	Hypoproteinemia	364	4
C0033680	Protein-Losing Enteropathies	381	3
C0856761	Budd-Chiari Syndrome	-1	1228
C0410174	Fukuyama Type Congenital Muscular Dystrophy	634	2
C0457133	Muscle eye brain disease	698	7
C1836373	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	340	3
C1847759	MUSCULAR DYSTROPHY, CONGENITAL, 1C	692	4
C1852502	CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	-1	1228
C1853926	NONAKA MYOPATHY	-1	1228
C2827469	Coronary Microvascular Disease	-1	1228
C3151184	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9	692	4
C4225291	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	-1	1228
C3809008	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY	358	5
C1845055	ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	-1	1228
C0342687	dopamine beta hydroxylase deficiency	76	2
C0004606	Nonproliferative diabetic retinopathy	301	15
C0085413	Polycystic Kidney, Autosomal Dominant	-1	1228
C0154830	Proliferative diabetic retinopathy	267	19
C0268250	Gaucher Disease, Type 2 (disorder)	-1	1228
C0268251	Gaucher Disease, Type 3 (disorder)	-1	1228
C0740447	Diabetic peripheral neuropathy	230	2
C1096293	Macroangiopathy	488	2
C1175175	Severe Acute Respiratory Syndrome	43	9
C1533172	Infantile nystagmus syndrome	-1	1228
C1704321	Nephrotic Syndrome, Minimal Change	-1	1228
C1860224	ABLEPHARON-MACROSTOMIA SYNDROME	254	3
C3178801	Stroke, Lacunar	422	3
C3496337	Idiopathic Nephrotic Syndrome	285	18
C1848411	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E	-1	1228
C0022568	Keratitis	671	3
C0342686	Aromatic amino acid decarboxylase deficiency	596	4
C1291564	Deficiency of aromatic-L-amino-acid decarboxylase	239	35
C1839840	MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE	193	2
C0003949	Asbestosis	250	5
C1857252	2,4-Dienoyl-CoA Reductase Deficiency	119	11
C2939465	Deficiency of glucose-6-phosphate dehydrogenase	273	40
C2827407	Infectious Otitis Media	234	32
C0270726	Alexander Disease	-1	1228
C1389118	Peroneal muscle atrophy	-1	1228
C1533847	Disorder of skeletal muscle	291	23
C1832370	MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	523	3
C1834481	CARDIOMYOPATHY, DILATED, 1S	489	2
C1858154	CARDIOMYOPATHY, DILATED, 1I	691	6
C1861861	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	-1	1228
C1867005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	610	2
C3148763	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E	55	3
C3809137	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R	94	2
C0398764	Complement Factor D Deficiency	-1	1228
C1846421	Lathosterolosis	-1	1228
C1865596	Desmosterolosis	694	12
C0519066	Acute Q fever	-1	1228
C1443892	Chronic Q Fever	219	2
C2751584	Neurodegeneration Due To Cerebral Folate Transport Deficiency	-1	1228
C3151205	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency	-1	1228
C0265257	Genee-Wiedemann syndrome	101	2
C0033581	prostatitis	117	2
C1852282	DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	301	15
C4225261	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	-1	1228
C2745963	Kashin-Beck Disease	-1	1228
C0037036	Sialorrhea	-1	1228
C1855565	Pyruvate Dehydrogenase E2 Deficiency	374	5
C0016719	Friedreich Ataxia	-1	1228
C0268193	NADH cytochrome B5 reductase deficiency	250	5
C0272187	Congenital leukocyte adherence deficiency	-1	1228
C0398739	Congenital disorder of glycosylation, type 2C	273	40
C3492932	Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	309	73
C0027121	Myositis	654	4
C0235394	Wasting	-1	1228
C0268418	Deficiency of glycerol kinase	702	4
C0268542	Ornithine carbamoyltransferase deficiency	-1	1228
C0339510	Vitelliform Macular Dystrophy	139	4
C0398568	Blood group deletion syndrome	701	2
C0410173	Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)	137	9
C3668940	Dmd-Associated Dilated Cardiomyopathy	399	2
C0008412	Choline Deficiency	607	3
C0013364	Dysautonomia, Familial	276	13
C0020071	Hereditary Sensory Autonomic Neuropathy, Type 1	493	3
C0020074	HSAN Type IV	-1	1228
C0020075	Hereditary Sensory Autonomic Neuropathy, Type 5	-1	1228
C0027889	Hereditary Sensory and Autonomic Neuropathies	186	5
C0699739	Sensory Neuropathy, Hereditary	239	35
C1858804	Cerebellar Ataxia, Deafness, and Narcolepsy	309	73
C3279885	Hereditary Sensory and Autonomic Neuropathy Type Ie	-1	1228
C3807295	CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT	605	3
C4014545	TATTON-BROWN-RAHMAN SYNDROME	-1	1228
C0398788	Immunodeficiency syndrome, variable	687	6
C1834671	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	185	8
C0521585	Gastrointestinal mucositis	220	2
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	233	10
C1959620	Dihydropyrimidine Dehydrogenase Deficiency	511	24
C3495551	Dihydropyrimidinuria	627	6
C0342803	Dihydropyrimidinase deficiency	724	4
C0027849	Neuroleptic Malignant Syndrome	492	5
C0152115	Lingual-Facial-Buccal Dyskinesia	343	9
C0221271	Elastosis perforans serpiginosa	720	6
C0035258	Restless Legs Syndrome	204	2
C0270736	Essential Tremor	232	6
C0392702	Abnormal involuntary movement	234	32
C0743332	Focal Dystonia	249	5
C2930898	Benign essential blepharospasm	-1	1228
C1864850	Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	260	6
C2063326	Right ventricular cardiomyopathy	-1	1228
C4310824	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR	217	8
C1857777	Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	-1	1228
C2752072	Cardiomyopathy, Dilated, 1BB	643	6
C0042510	Ventricular Fibrillation	-1	1228
C0263505	Alopecia universalis	87	2
C1832600	Naxos disease	291	23
C1843292	Skin Fragility-Woolly Hair Syndrome	-1	1228
C1843896	Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	-1	1228
C1852127	KERATOSIS PALMOPLANTARIS STRIATA II	-1	1228
C1854063	Cardiomyopathy dilated with Woolly hair and keratoderma	14	2
C1864826	Epidermolysis bullosa, lethal acantholytic	659	2
C3809719	ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE	367	6
C4014393	CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	110	8
C0232940	Secondary physiologic amenorrhea	231	41
C3808981	HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA	-1	1228
C4021107	Non-obstructive azoospermia	394	20
C0265205	Robinow Syndrome	150	5
C4225363	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2	116	3
C4225164	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3	629	4
C3279839	MENTAL RETARDATION, AUTOSOMAL DOMINANT 7	291	23
C3151237	Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction	-1	1228
C3661523	Congenital Intestinal Aganglionosis	17	2
C0162670	Mitochondrial Myopathies	-1	1228
C0872218	MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME	440	2
C1112256	Sensorimotor neuropathy	369	2
C2749862	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related	-1	1228
C4225391	MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY	472	2
C0742343	Acute Chest Syndrome	-1	1228
C1865295	Auriculo-condylar syndrome	-1	1228
C3810332	AURICULOCONDYLAR SYNDROME 3	-1	1228
C4225349	MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA	476	7
C1838099	ABCD syndrome	-1	1228
C1848519	WAARDENBURG SYNDROME, TYPE 4A	148	4
C3266898	Waardenburg Syndrome	23	2
C4225337	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	446	5
C4225343	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	315	15
C1836395	SPINOCEREBELLAR ATAXIA 26	231	41
C0265344	Donohue Syndrome	721	3
C2673648	Hypomagnesemia 4, Renal	721	3
C3495488	Axenfeld-Rieger syndrome	341	7
C0406726	Orofaciodigital syndrome 3	254	3
C0080032	Pleural Effusion, Malignant	367	6
C0398738	Leukocyte adhesion deficiency type 1	629	4
C1167791	Skin toxicity	-1	1228
C1851585	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	308	2
C1862382	SVEINSSON CHORIORETINAL ATROPHY	328	8
C3266262	Multiple Chronic Conditions	359	6
C3809250	ESTROGEN RESISTANCE	409	19
C4015130	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2	-1	1228
C4082937	Necrotizing enterocolitis in fetus OR newborn	406	5
C0393818	Congenital hypomyelinating neuropathy	478	3
C0598589	Inherited neuropathies	-1	1228
C0751036	Hereditary Motor and Sensory Neuropathy Type I	63	2
C1843247	Charcot-Marie-Tooth disease, Type 1D (disorder)	179	10
C3551756	NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT	-1	1228
C0015624	Fanconi Syndrome	301	15
C3495427	Fanconi-Bickel Syndrome	225	2
C3810100	FANCONI RENOTUBULAR SYNDROME 3	93	5
C1847967	OVARIOLEUKODYSTROPHY	-1	1228
C2960129	Vanishing white matter disease	268	3
C1846278	MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder)	315	15
C3280271	PARKINSON DISEASE 18	694	12
C4274355	Autosomal dominant late onset Parkinson disease	641	2
C0410190	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)	269	4
C1450051	Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	-1	1228
C1834653	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)	-1	1228
C2930996	Muscular dystrophy, tardive Emery-Dreifuss type, with contractures	711	3
C4014507	NEPHROTIC SYNDROME, TYPE 10	429	3
C0006105	Brain Abscess	90	2
C0032461	Polycythemia	48	2
C1832529	HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION	72	3
C1838163	OSLER-RENDU-WEBER SYNDROME 2	260	6
C2752027	Glycogen Storage Disease XIII	357	2
C0014761	Erythroblastosis, Fetal	-1	1228
C3150941	RUBINSTEIN-TAYBI SYNDROME 2	401	3
C0152264	Familial erythrocytosis	375	10
C1318533	Secondary polycythemia	582	2
C2673187	Erythrocytosis, Familial, 4	231	41
C0013902	Elliptocytosis, Hereditary	706	2
C2678497	Elliptocytosis 1	-1	1228
C4310711	MYOPATHY, MYOFIBRILLAR, 7	244	9
C0019045	Hemoglobinopathies	-1	1228
C0581384	Chronic anemia	219	2
C1260899	Anemia, Diamond-Blackfan	724	4
C0085623	Akinesia	-1	1228
C3715155	AMYOTROPHIC LATERAL SCLEROSIS 19	479	2
C0033300	Progeria	-1	1228
C0079154	Congenital Nonbullous Ichthyosiform Erythroderma	-1	1228
C1853102	Cerebrooculofacioskeletal Syndrome 2	409	19
C1866504	Photosensitive Trichothiodystrophy	319	4
C1866505	Ichthyosis, Congenital, with Trichothiodystrophy	564	3
C1955934	Trichothiodystrophy Syndromes	291	23
C4024961	Metachromatic leukodystrophy variant	664	2
C0268136	Xeroderma pigmentosum, group B	-1	1228
C1970808	Xeroderma Pigmentosum B-Cockayne Syndrome	79	3
C4225344	TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	122	10
C0156344	Endometriosis of ovary	409	19
C0409952	Idiopathic osteoarthritis	179	10
C1837857	DEAFNESS, AUTOSOMAL RECESSIVE 35	332	2
C0015674	Chronic Fatigue Syndrome	466	10
C0745091	Hypereosinophilia	511	24
C1832388	Platelet Disorder, Familial, with Associated Myeloid Malignancy	311	4
C3896960	Childhood Pre-B Acute Lymphoblastic Leukemia	-1	1228
C4015537	THROMBOCYTOPENIA 5	391	2
C0013903	Ellis-Van Creveld Syndrome	164	3
C0024507	Majewski Syndrome	181	6
C0457013	Weyers acrofacial dysostosis	141	8
C0019154	Hepatic Vein Thrombosis	273	40
C0020640	Inherited Factor II deficiency	520	4
C0035328	Retinal Vein Occlusion	-1	1228
C0162739	HELLP Syndrome	-1	1228
C0267797	Acute hepatitis	26	2
C0272317	Hereditary factor II deficiency disease	-1	1228
C2584409	Prothrombin G20210A mutation	137	9
C2584620	Thrombophilia, hereditary	330	4
C3203356	Factor II deficiency	188	2
C0265309	Leri-Weill dyschondrosteosis	159	7
C0015523	Hereditary Factor XI Deficiency	420	2
C0034155	Purpura, Thrombotic Thrombocytopenic	727	2
C1268935	Congenital Thrombotic Thrombocytopenic Purpura	291	23
C1956258	Familial Thrombotic Thrombocytopenic Purpura	81	2
C0014867	Esophageal Varices	671	3
C0015499	Hereditary Factor V Deficiency	409	19
C0948441	Venoocclusive disease	-1	1228
C1273976	First myocardial infarction	-1	1228
C1861171	THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder)	-1	1228
C0015503	Factor VII Deficiency	110	8
C0015519	Factor X Deficiency	406	5
C1264041	von Willebrand Disease, Type 3	64	3
C0850803	Anaphylaxis (non medication)	480	3
C2749016	Thrombophilia, X-Linked, Due To Factor Ix Defect	245	2
C0042721	Viral hepatitis	422	3
C1857728	Hereditary Angioedema Type III	-1	1228
C0015530	Hereditary Factor XIII Deficiency	431	2
C1845672	Mental Retardation, X-Linked 63	-1	1228
C1861028	Esophageal atresia with or without tracheoesophageal fistula	243	4
C3469527	fanconi anemia complementation group g	-1	1228
C0016756	Fructose-1,6-Diphosphatase Deficiency	-1	1228
C0022638	Ketosis	-1	1228
C0265970	Porokeratosis, Disseminated Superficial Actinic	486	5
C0949506	Porokeratosis of Mibelli	509	2
C4225262	POROKERATOSIS 9, MULTIPLE TYPES	170	3
C0001733	Afibrinogenemia	481	2
C0268382	Amyloid nephropathy	-1	1228
C0272350	Dysfibrinogenemia, Congenital	653	4
C1260903	Dysfibrinogenemia	86	2
C1859970	Hypodysfibrinogenemia, Congenital	-1	1228
C2584774	Congenital hypofibrinogenemia	-1	1228
C0175701	Aarskog syndrome	-1	1228
C1844569	Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder	462	3
C3275558	MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	147	2
C0266039	Taurodontism	273	40
C1527284	Dental Pulp Stone	104	3
C1853144	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia	-1	1228
C0338503	Septo-Optic Dysplasia	360	9
C1563719	Kallmann Syndrome 1	141	8
C1563720	Kallmann Syndrome 2 (disorder)	-1	1228
C2675188	Kallmann Syndrome 6	149	5
C2930927	Kallmann syndrome, type 3, recessive	-1	1228
C3552574	HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	431	2
C0175700	Multiple synostosis syndrome	558	8
C0342282	Multiple synostoses syndrome 1	584	3
C2751826	Multiple Synostoses Syndrome 3	80	3
C0027719	Nephrosclerosis	-1	1228
C0265269	Lacrimoauriculodentodigital syndrome	492	5
C0344505	Alacrima	239	35
C4310685	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47	423	5
C1836383	SPINOCEREBELLAR ATAXIA 27	77	7
C0078981	Arachnoid Cysts	118	11
C0220658	Pfeiffer Syndrome	-1	1228
C0220748	Cartilage-hair hypoplasia	726	2
C0242343	Panhypopituitarism	511	24
C0795998	JACKSON-WEISS SYNDROME	231	41
C1845146	Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate	198	3
C1856266	Coronal craniosynostosis	106	5
C3899503	Congenital hypogonadotropic hypogonadism	307	14
C0010273	Craniofacial Dysostosis	-1	1228
C1300257	Thanatophoric dysplasia, type 2	-1	1228
C1851152	SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS	3	3
C1864436	Muenke Syndrome	417	12
C1864852	CATSHL syndrome	644	4
C2677099	CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)	327	3
C2931196	Craniofacial dysostosis type 1	258	2
C3854181	Nevus sebaceous	221	4
C0220701	RETINITIS PIGMENTOSA 1	426	4
C0265326	Bannayan-Riley-Ruvalcaba Syndrome	363	3
C1852406	Cutis Gyrata Syndrome of Beare And Stevenson	482	2
C1860042	Antley-Bixler Syndrome with Disordered Steroidogenesis	486	5
C1863389	Apert-Crouzon Disease	312	10
C1863391	Vogt Cephalodactyly	353	8
C1865070	SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION	630	6
C3281247	BENT BONE DYSPLASIA SYNDROME	-1	1228
C0342770	Fumarase deficiency	-1	1228
C2936826	Fumaric aciduria	-1	1228
C3280492	TUMOR PREDISPOSITION SYNDROME	353	8
C0574083	3-Methylglutaconic aciduria type 2	637	2
C0021290	Neonatal disorder	-1	1228
C1839928	IRIS HYPOPLASIA WITH GLAUCOMA	349	4
C1866560	IRIDOGONIODYSGENESIS, TYPE 1 (disorder)	231	41
C1866561	Glaucoma Iridogoniodysplasia, Familial	262	3
C3495489	Rieger eye malformation sequence	458	2
C3714873	Axenfeld-Rieger Syndrome, Type 1	298	14
C4085595	AL-RAQAD SYNDROME	100	2
C0265345	Lymphedema distichiasis syndrome	413	6
C2675066	Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus	-1	1228
C0263630	Hypertrophic disorder of skin, unspecified	315	15
C0795864	Smith-Magenis syndrome	-1	1228
C0034072	Cor pulmonale	118	11
C0220769	FG syndrome	-1	1228
C0265251	Oto-Palato-digital syndrome type 1	470	2
C1845546	FG SYNDROME 4 (disorder)	-1	1228
C1845902	FG SYNDROME 2	474	2
C1846129	Terminal Osseous Dysplasia and Pigmentary Defects	673	2
C1848213	Periventricular Heterotopia, X-Linked	547	5
C1848214	Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia	309	73
C2746068	Congenital idiopathic intestinal pseudoobstruction	543	4
C2748918	Otopalatodigital Spectrum Disorder	473	2
C2748919	Frontootopalatodigital Osteodysplasia	285	18
C3806579	CONGENITAL SHORT BOWEL SYNDROME, X-LINKED	-1	1228
C0175778	Larsen syndrome	307	14
C0432201	Boomerang dysplasia	538	3
C1848934	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	202	2
C1836050	Filaminopathy, autosomal dominant	-1	1228
C1836451	Distal lower limb amyotrophy	624	5
C3279722	MYOPATHY, DISTAL, 4	273	40
C4310748	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5	435	6
C4310749	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26	37	6
C0085083	Ovarian Hyperstimulation Syndrome	190	2
C0342739	Trimethylaminuria	146	5
C0014121	Bacterial Endocarditis	148	4
C0220708	VATER Association	285	18
C1541923	Infective endocarditis	326	2
C1838577	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	202	2
C1863599	Hereditary Myopathy with Early Respiratory Failure	-1	1228
C1866075	GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)	622	5
C3888104	Glomerulopathy with fibronectin deposits	34	2
C0342705	Folate Malabsorption, Hereditary	200	3
C1562113	Fleck corneal dystrophy	347	3
C0001342	Acute periodontitis	685	9
C0031106	Periodontitis, Juvenile	145	3
C0872084	Sarcopenia	-1	1228
C1846385	FOCAL CORTICAL DYSPLASIA OF TAYLOR	403	6
C1846388	CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY	605	3
C1846389	Focal Cortical Dysplasia of Taylor, Type IIb	-1	1228
C1854465	TUBEROUS SCLEROSIS 1 (disorder)	-1	1228
C1860707	TUBEROUS SCLEROSIS 2 (disorder)	307	14
C4225259	SMITH-KINGSMORE SYNDROME	165	2
C4478700	FOCAL CORTICAL DYSPLASIA, TYPE IIA	171	3
C4478701	FOCAL CORTICAL DYSPLASIA, TYPE IIB	14	2
C4479708	FCD IIA	298	14
C4479709	FCD IIB	279	25
C0429468	Anovulatory (finding)	-1	1228
C0700502	Acquired hypothyroidism	-1	1228
C0729353	Subfertility	370	6
C0747102	Ovarian failure	191	2
C3494162	Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous	566	2
C0003128	Anovulation	455	3
C0013338	Pituitary dwarfism	498	4
C0271582	Isolated lutropin deficiency (disorder)	457	4
C2751825	PREMATURE OVARIAN FAILURE 7 (disorder)	529	4
C3151406	SPERMATOGENIC FAILURE 8	466	10
C4479664	ADRENAL INSUFFICIENCY, NR5A1-RELATED	646	4
C0205858	General Paralysis	719	11
C1842675	AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)	313	2
C1859807	AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	-1	1228
C2750729	Amyotrophic Lateral Sclerosis 6, Autosomal Recessive	-1	1228
C3539195	TREMOR, HEREDITARY ESSENTIAL, 4	-1	1228
C0392607	Severe combined immunodeficiency due to adenosine deaminase deficiency	569	3
C0265961	Erythrokeratodermia variabilis	-1	1228
C4479620	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4	-1	1228
C2678311	Thrombocytopenia 3	662	2
C0003868	Arthritis, Gouty	-1	1228
C0017495	Gerstmann-Straussler-Scheinker Disease	466	10
C0017920	Glycogen Storage Disease Type I	483	3
C0029438	Massive Osteolyses	4	2
C0268146	Glucose-6-phosphate transport defect	129	6
C0268147	Glycogen storage disease, type IX	670	2
C2919796	Glycogen storage disease type Ia	646	4
C0015702	Favism	285	18
C0017551	Gilbert Disease (disorder)	-1	1228
C0041912	Upper Respiratory Infections	511	24
C0238644	Anemia, severe	-1	1228
C0242225	Color blindness	-1	1228
C0472790	Chronic non-spherocytic hemolytic anemia	43	9
C0702157	Thalassemia trait	47	3
C0857007	Hyperbilirubinemia, Neonatal	462	3
C1387532	Chronic hemolytic anemia	279	25
C2720289	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	508	3
C0393615	Familial Tremor	-1	1228
C3810400	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19	-1	1228
C2751938	Cerebral Palsy, Spastic Quadriplegic, 1	-1	1228
C1836632	SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder)	650	2
C0005818	Blood Platelet Disorders	231	41
C0272278	Congenital thrombocytopenia	538	3
C0678199	Anemia of inadequate production	-1	1228
C1839161	Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis	565	5
C1839163	THROMBOCYTOPENIA 1 (disorder)	246	2
C1845837	Dyserythropoietic Anemia with Thrombocytopenia	265	5
C2718078	Deficiency of Uroporphyrinogen III Synthase	140	2
C2931850	Aase Smith syndrome 2	294	2
C3550789	THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA	222	8
C0271907	Acquired aplastic anemia	312	10
C3279664	Emberger syndrome	-1	1228
C3280030	GATA2 Deficiency	233	10
C0235831	Renal Cell Dysplasia	437	8
C1840333	Barakat syndrome	173	8
C1842778	Atrial septal defect 2	-1	1228
C3280777	VENTRICULAR SEPTAL DEFECT 1	696	3
C3280781	ATRIOVENTRICULAR SEPTAL DEFECT 4	309	73
C3809858	TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE	367	6
C0158981	Neonatal diabetes mellitus	-1	1228
C1838780	Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease	-1	1228
C3280939	ATRIOVENTRICULAR SEPTAL DEFECT 5	329	5
C3280943	ATRIAL SEPTAL DEFECT 9	356	13
C3888085	PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS	545	8
C4012454	HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES	193	2
C0017923	Glycogen Storage Disease Type IV	480	3
C1849722	Polyglucosan Body Disease, Adult Form	719	11
C1856301	GSD IV, Classic Hepatic	532	2
C1856302	GSD IV, Nonprogressive Hepatic	40	2
C1856303	GSD IV, Neuromuscular Form, Fatal Perinatal	279	25
C1856304	GSD IV, Neuromuscular Form, Congenital	309	73
C1856305	GSD IV, Neuromuscular Form, Childhood	613	3
C1856306	GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy	94	2
C2936914	Cirrhosis, familial, with deposition of abnormal glycogen	-1	1228
C0268595	Glutaric aciduria, type 1	-1	1228
C0027773	Nesidioblastosis	233	10
C0085253	Adult-Onset Still Disease	304	19
C0342277	Diabetes mellitus autosomal dominant type II (disorder)	-1	1228
C1833102	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	577	6
C1833104	DIABETES MELLITUS, PERMANENT NEONATAL	-1	1228
C1838100	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	645	2
C1853564	Developmental Delay, Epilepsy, and Neonatal Diabetes	231	41
C1865290	Hyperinsulinemic hypoglycemia, familial, 3	484	2
C2931832	Hyperinsulinemic hypoglycemia, familial, 1	653	4
C2931833	Hyperinsulinemic hypoglycemia, familial, 2	-1	1228
C3888018	Congenital Hyperinsulinism	522	3
C3888631	Monogenic diabetes	-1	1228
C0339537	Cone monochromatism	227	6
C3887937	CONE DYSTROPHY 5, X-LINKED	170	3
C3887938	COLORBLINDNESS, PARTIAL, DEUTAN SERIES	525	2
C3839507	Diminished ovarian reserve	674	2
C0796221	MENTAL RETARDATION, X-LINKED 15	-1	1228
C0796224	MENTAL RETARDATION, X-LINKED 18	156	8
C0796225	Mental Retardation, X-Linked 19	295	6
C0796237	Mental Retardation, X-Linked 30	106	5
C0796249	Mental Retardation, X-Linked 47	-1	1228
C1846038	MENTAL RETARDATION, X-LINKED 72	243	4
C1846174	Mental Retardation, X-Linked 58	118	11
C1970841	MENTAL RETARDATION, X-LINKED 93 (disorder)	177	2
C2749020	Mental Retardation, X-Linked, Znf711-Related	719	11
C3275408	MENTAL RETARDATION, X-LINKED 96	409	19
C3275443	MENTAL RETARDATION, X-LINKED 90 (disorder)	-1	1228
C3806730	MENTAL RETARDATION, X-LINKED 98	217	8
C3806746	MENTAL RETARDATION, X-LINKED 99	705	2
C3887939	MENTAL RETARDATION, X-LINKED 41	476	7
C3887959	MENTAL RETARDATION, X-LINKED 49	358	5
C0268312	Progressive intrahepatic cholestasis (disorder)	233	10
C0238402	Pycnodysostosis	309	73
C0242292	McCune-Albright Syndrome	620	2
C0271561	Somatotropin deficiency	309	73
C0271567	Isolated Growth Hormone Deficiency, Type II	534	10
C0271568	Laron Syndrome	276	13
C0406810	Carney Complex	141	8
C0744483	growth hormone treatment	309	73
C1837475	Insulin-Like Growth Factor I Deficiency	-1	1228
C1849779	Kowarski syndrome	520	4
C2349757	Iatrogenic Jakob-Creutzfeldt disease	-1	1228
C2748571	Isolated Growth Hormone Deficiency, Type IB	309	73
C1858656	Short Stature, Idiopathic, Autosomal	613	3
C0002892	Anemia, Pernicious	-1	1228
C1306856	Megaloblastic anemia due to inborn errors of metabolism	-1	1228
C1394891	Intrinsic Factor Deficiency	154	2
C0010051	Coronary Aneurysm	-1	1228
C0018522	Hallermann\'s Syndrome	485	2
C0694539	Chronic atrial fibrillation	-1	1228
C1851480	Greither Disease	228	5
C1861366	SYNDACTYLY, TYPE III	-1	1228
C1863093	Alopecia congenita keratosis palmoplantaris	24	2
C2749477	Oculodentodigital Dysplasia, Autosomal Recessive	199	5
C2931244	Craniometaphyseal dysplasia, autosomal recessive type	91	5
C3151468	PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1	163	11
C3275750	ATRIOVENTRICULAR SEPTAL DEFECT 3	374	5
C4479619	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3	475	2
C0392557	Nuclear cataract	226	21
C0858617	Posterior subcapsular cataract	-1	1228
C1112705	Nuclear non-senile cataract	511	24
C1833118	Cataract, Pulverulent	-1	1228
C1852438	CATARACT, COPPOCK-LIKE	586	3
C1861828	Cataract, Zonular Pulverulent 1	215	3
C1866078	Cataract, Zonular Pulverulent 3	-1	1228
C0340489	Lone atrial fibrillation	-1	1228
C1838539	CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE	-1	1228
C3279693	ATRIAL FIBRILLATION, FAMILIAL, 11	13	2
C1861829	Cataract microcornea syndrome	513	2
C0270911	Charcot-Marie-Tooth Disease, Type Ia (disorder)	89	2
C0270914	Hereditary Motor and Sensory-Neuropathy Type II	-1	1228
C0393808	Charcot-Marie-Tooth disease, X-linked, 1	-1	1228
C0393814	Hereditary liability to pressure palsies	49	2
C0013238	Dry Eye Syndromes	410	7
C0025221	Meleda Disease	-1	1228
C0162836	Hidradenitis Suppurativa	585	2
C0265336	Senter syndrome	-1	1228
C0271097	Usher Syndrome	419	4
C0452136	Conductive hearing loss, bilateral	16	5
C1835672	Palmoplantar Keratoderma with Deafness	-1	1228
C1844678	Progressive hearing loss stapes fixation	238	4
C1846647	DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	408	3
C1865234	ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS	-1	1228
C2673759	DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)	598	2
C2673760	DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)	6	3
C2673761	DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)	558	8
C2675750	DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)	285	18
C2931923	Hyperkeratosis of the palms and soles and esophageal papillomas	-1	1228
C3665333	Keratitis-Ichthyosis-Deafness Syndrome	284	6
C1851479	Keratoderma palmoplantaris transgrediens	106	5
C2675236	Deafness, Autosomal Dominant 2B	-1	1228
C1856603	Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	-1	1228
C0265220	Pallister-Hall syndrome	273	40
C0342388	Adrenocorticotropic hormone (ACTH) deficiency (disorder)	213	7
C0796147	Acrocallosal Syndrome	526	11
C1868111	Polydactyly, preaxial 4	160	2
C1868120	POSTAXIAL POLYDACTYLY, TYPE B	551	5
C2931760	Acrocallosal syndrome, Schinzel type	195	3
C3887487	Postaxial polydactyly type A	107	3
C4282400	Polydactyly, Postaxial, Type A1	333	3
C0265354	CHARGE Syndrome	329	5
C1846142	HOYERAAL-HREIDARSSON SYNDROME	-1	1228
C1847555	Hyperinsulinemic hypoglycemia, familial, 6	493	3
C1854310	Hypotrichosis simplex	-1	1228
C1876187	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	-1	1228
C1840347	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder)	558	8
C3809243	HYPOCALCEMIA, AUTOSOMAL DOMINANT 2	-1	1228
C0266006	Pili torti-deafness syndrome	612	2
C0752203	Dystonia, Primary	392	3
C1963946	Laryngeal dystonia	238	4
C3554447	DYSTONIA 25	226	21
C0393706	Early infantile epileptic encephalopathy with suppression bursts	433	6
C3809606	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17	325	3
C4479569	NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS	-1	1228
C0007286	Carpal Tunnel Syndrome	-1	1228
C0030283	Pancreatic Cyst	-1	1228
C0033805	Pseudohypoaldosteronism	534	10
C0220659	Acrodysostosis	580	2
C0334041	Osteoma cutis	273	40
C1449842	Pseudohypoaldosteronism, Type I, Autosomal Dominant	653	4
C1449843	Pseudohypoaldosteronism, Type I, Autosomal Recessive	309	73
C1449844	Pseudohypoaldosteronism, Type II	-1	1228
C2932716	Pseudohypoparathyroidism Type 1C	698	7
C2940786	Thyroid Hormone Resistance Syndrome	511	24
C3493776	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	-1	1228
C4310774	MENTAL RETARDATION, AUTOSOMAL DOMINANT 42	-1	1228
C4310758	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H	273	40
C1856897	Eunuchoidism, familial hypogonadotropic	55	3
C0342538	Constitutional delay of growth and puberty	330	4
C3280953	HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE	394	20
C0026603	Motion Sickness	-1	1228
C1853205	Glycosylphosphatidylinositol deficiency	-1	1228
C3150730	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY	604	2
C0011226	Hepatitis D Infection	-1	1228
C0037061	Siderosis	-1	1228
C0400914	Acute hepatitis C	69	3
C1861453	Pseudohyperkalemia Cardiff	717	4
C1855229	Spondylometaphyseal dysplasia, Sedaghatian type	466	10
C3280282	MENTAL RETARDATION, AUTOSOMAL DOMINANT 8	231	41
C1832814	Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant	568	3
C3806402	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION	500	3
C3806403	Continuous spike and waves during slow sleep	487	2
C3887898	Infantile Spasm	149	5
C4015316	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	-1	1228
C4310687	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	184	3
C0272286	Thrombocytopenia due to platelet alloimmunization	366	14
C0600260	Lung Diseases, Obstructive	540	2
C1841972	Glucocorticoid Receptor Deficiency	137	9
C1841973	Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance	-1	1228
C0393484	Rasmussen Syndrome	163	11
C2930868	Rasmussen subacute encephalitis	524	6
C1866282	CEROID LIPOFUSCINOSIS, NEURONAL, 6	-1	1228
C0155127	Familial Amyloid Polyneuropathy, Type V	439	4
C0268407	Senile cardiac amyloidosis	226	21
C1622345	Meretoja syndrome	491	2
C1628319	Lattice corneal dystrophy Type II	-1	1228
C1861735	Dementia, familial Danish	88	3
C2751493	Cerebral Amyloid Angiopathy, Gsn-Related	91	5
C0085692	Hemorrhagic cystitis	301	15
C0398746	Gluthathione synthetase deficiency	725	2
C1856399	Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to	428	4
C1827820	Fast acetylator due to N-acetyltransferase enzyme variant	226	21
C0403823	Asthenozoospermia	353	8
C4310785	TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE	207	4
C1536451	Central areolar choroidal sclerosis	624	5
C1865869	CONE DYSTROPHY 3 (disorder)	231	41
C1867326	RETINAL CONE DYSTROPHY 1	672	2
C0340552	High altitude pulmonary hypertension	-1	1228
C3810403	MOYAMOYA DISEASE 6 WITH ACHALASIA	446	5
C3150754	GLYCOGEN STORAGE DISEASE XV	541	2
C4015452	POLYGLUCOSAN BODY MYOPATHY 2	239	35
C1969054	Glycogen Storage Disease 0, Muscle	-1	1228
C1855861	Glycogen Storage Disease 0, Liver	374	5
C4479637	RAHMAN SYNDROME	273	40
C3266731	2-methyl-3-hydroxybutyric aciduria	291	23
C1969443	Trifunctional Protein Deficiency With Myopathy And Neuropathy	-1	1228
C1291230	3-Hydroxyacyl-CoA Dehydrogenase Deficiency	362	7
C1864948	Hyperinsulinemic Hypoglycemia, Familial, 4	209	5
C0271980	beta^0^ Thalassemia	531	2
C0271990	delta-Thalassemia	515	4
C0271991	delta^0^ Thalassemia	569	3
C0398626	Heparin cofactor II deficiency (disorder)	628	5
C4310798	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4	447	3
C0017921	Glycogen storage disease type II	-1	1228
C0035021	Relapsing Fever	-1	1228
C0398777	Complement Factor H Deficiency	385	5
C0600518	Choroidal Neovascularization	387	4
C0701807	Acute anterior uveitis	304	19
C0730295	BASAL LAMINAR DRUSEN (disorder)	534	10
C0730362	Disorder of macula of retina	190	2
C1533060	Multifocal choroiditis	564	3
C1720452	Soft drusen	-1	1228
C1832174	DOYNE HONEYCOMB RETINAL DYSTROPHY	169	5
C1852020	Malattia Leventinese	-1	1228
C1852021	Drusen, Radial, Autosomal Dominant	231	41
C1853147	MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)	-1	1228
C1856143	HEMOLYTIC UREMIC SYNDROME, TYPICAL	-1	1228
C3463916	Complement Factor I (C3 inactivator) deficiency	438	4
C3873491	Invasive meningococcal disease	-1	1228
C1842342	DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder)	492	5
C0017926	Glycogen Storage Disease Type VII	272	9
C0472792	Hemolytic anemia due to hexokinase deficiency	302	13
C1288283	Atrophoderma maculatum	77	7
C1854449	Neuropathy, hereditary motor and sensory, Russe type	224	5
C3150343	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	644	4
C4479526	RETINITIS PIGMENTOSA 79	343	9
C0019357	Keratitis, Herpetic	-1	1228
C0024440	Macular Edema, Cystoid	412	9
C0039263	Takayasu Arteritis	309	73
C0040592	Trachoma	668	4
C1853959	Birdshot chorioretinopathy	619	3
C0039483	Giant Cell Arteritis	-1	1228
C0085435	Arthritis, Reactive	119	11
C0543698	Hypersensitive syndrome	668	4
C2363973	Chronic thromboembolic pulmonary hypertension	235	3
C0339985	Idiopathic bronchiectasis	-1	1228
C0406317	Chronic small plaque psoriasis	-1	1228
C1849193	PEELING SKIN SYNDROME	122	10
C1859592	ATRICHIA WITH PAPULAR LESIONS	123	2
C2931418	Bare lymphocyte syndrome 2	126	2
C0027873	Neuromyelitis Optica	33	2
C0574960	Sacroiliitis	542	7
C0024137	Lupus Erythematosus, Cutaneous	-1	1228
C0751356	Idiopathic Inflammatory Myopathies	43	9
C0859976	Idiopathic achalasia of esophagus	-1	1228
C3826457	Diabetes in children	540	2
C0004031	Aspergillosis, Allergic Bronchopulmonary	-1	1228
C0009373	Colonic Diseases	371	6
C0014743	Erythema Nodosum	205	2
C0025281	Meniere Disease	153	2
C0032533	Polymyalgia Rheumatica	725	2
C0035439	Rheumatic Heart Disease	609	2
C0041466	Typhoid Fever	652	3
C0340164	Lofgrens syndrome	523	3
C0751964	Multiple Sclerosis, Primary Progressive	691	6
C3887641	Recurrent hepatitis	707	2
C0008728	Eosinophilic granulomatosis with polyangiitis	-1	1228
C0162532	Variegate Porphyria	248	5
C0235025	Peripheral motor neuropathy	119	11
C0268322	Chester-type porphyria	47	3
C1867969	Porphyria, Acute Intermittent, Nonerythroid Variant	655	5
C2936779	Hydroxymethylbilane Synthase Deficiency	627	6
C1850383	Neuropathy, Painful	708	3
C0268601	HMG CoA lyase deficiency	-1	1228
C3151466	HEPATIC LIPASE DEFICIENCY (disorder)	457	4
C2751532	3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency	-1	1228
C0012715	Iron Metabolism Disorders	611	2
C0856742	Post MI	31	5
C0221333	Hypouricemia	486	5
C0431693	Renal cysts and diabetes syndrome	185	8
C1704375	Hypophosphatemic Rickets	182	3
C1852093	Maturity-Onset Diabetes of the Young, Type 1	-1	1228
C4014962	FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG	309	73
C0393665	Multiple Sclerosis, Chronic Progressive	666	4
C1833662	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	285	18
C3715156	AMYOTROPHIC LATERAL SCLEROSIS 20	309	73
C3809469	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3	279	25
C3809468	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2	586	3
C4310814	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE	-1	1228
C4225274	AU-KLINE SYNDROME	-1	1228
C4479319	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54	324	2
C1531773	Currarino triad	-1	1228
C2678439	CRANIOOSTEOARTHROPATHY	-1	1228
C0023374	Lesch-Nyhan Syndrome	403	6
C0268117	Gout, HPRT-Related	610	2
C1845892	Lesch-Nyhan Syndrome, Neurologic Variant	208	3
C0362030	Verrucous epidermal nevus	176	2
C1860991	NOONAN SYNDROME 3	110	8
C0342471	3 beta-Hydroxysteroid dehydrogenase deficiency	351	2
C1291245	Cortisone reductase deficiency	242	3
C3553382	CORTISONE REDUCTASE DEFICIENCY 2	320	3
C2936861	Cortisol 11-beta-ketoreductase deficiency	-1	1228
C3887949	Apparent mineralocorticoid excess	223	3
C0268296	17-Hydroxysteroid Dehydrogenase Deficiency	713	2
C1849695	Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency	-1	1228
C0282525	Adrenoleukodystrophy, Neonatal	719	11
C0685838	Gonadal dysgenesis XX type deafness	-1	1228
C3280428	Alpha-Methylacyl-CoA Racemase Deficiency	279	25
C3658299	Zellweger Spectrum	273	40
C0751039	Cockayne Syndrome, Type I	54	2
C2674249	Anemia, Sideroblastic, Autosomal Dominant	209	5
C4225180	EVEN-PLUS SYNDROME	271	3
C4225428	ANEMIA, SIDEROBLASTIC, 4	300	2
C0162672	MERRF Syndrome	460	4
C1847823	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	627	6
C1854023	Spinal muscular atrophy, Jerash type	-1	1228
C2608087	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	561	10
C3711384	Distal Hereditary Motor Neuropathy, Type II	-1	1228
C0025229	Melioidosis	494	2
C0026916	Mycobacterium avium-intracellulare Infection	-1	1228
C0745287	infertility tubal factor	510	4
C1854467	Spastic paraplegia 13, autosomal dominant	-1	1228
C2677109	Leukodystrophy, Hypomyelinating, 4	179	10
C3553418	PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT	-1	1228
C0751771	Sleep Bruxism	524	6
C0263912	Rotator cuff syndrome	-1	1228
C1568272	Tendinopathy	448	2
C3810170	DEAFNESS, AUTOSOMAL DOMINANT 56	78	2
C3840085	Disorder of Achilles tendon	603	3
C0338437	Neurocysticercosis	309	73
C0860564	Retinoic acid syndrome	231	41
C1306557	Chronic venous insufficiency	-1	1228
C3808589	IMMUNODEFICIENCY 32A	354	10
C4016741	IMMUNODEFICIENCY 32B	-1	1228
C0024454	Maffucci Syndrome	-1	1228
C1833429	D-2-hydroxyglutaric aciduria	505	6
C2746066	Combined D-2- and L-2-hydroxyglutaric aciduria	586	3
C3150909	D-2-HYDROXYGLUTARIC ACIDURIA 2	413	6
C3152055	D-2-HYDROXYGLUTARIC ACIDURIA 1	-1	1228
C2675496	Retinitis Pigmentosa 46	695	3
C3809523	MACULAR DEGENERATION, AGE-RELATED, 13	372	4
C0276623	Chronic viral hepatitis	-1	1228
C0021845	Intestinal Perforation	477	4
C0524911	Hepatitis D, Chronic	419	4
C0008055	Chikungunya Fever	-1	1228
C4225252	IMMUNODEFICIENCY 45	132	2
C4225260	IMMUNODEFICIENCY 44	-1	1228
C0003615	Appendicitis	707	2
C0006309	Brucellosis	465	2
C0006845	Candidiasis, Chronic Mucocutaneous	273	40
C0009766	Allergic Conjunctivitis	143	2
C0018889	Helminthiasis	712	3
C0023241	Legionnaires\' Disease	-1	1228
C0023283	Leishmaniasis, Cutaneous	167	4
C0030343	Panuveitis	389	3
C0151332	Active tuberculosis	-1	1228
C0238013	Invasive aspergillosis	438	4
C0936250	Eczema Herpeticum	232	6
C1609538	Latent Tuberculosis	674	2
C1968689	Hyper-Immunoglobulin E Syndrome, Autosomal Recessive	110	8
C2936739	Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	511	24
C3887645	Job Syndrome	700	4
C0694566	Atypical Mycobacterial Infection, Disseminated	63	2
C1112429	Interferon gamma receptor deficiency	-1	1228
C4011949	IMMUNODEFICIENCY 27A	-1	1228
C4014863	IMMUNODEFICIENCY 27B	599	2
C4288927	IFN-gamma Receptor 1 Deficiency	227	6
C4013947	IMMUNODEFICIENCY 28	-1	1228
C1956089	Osteophyte	536	6
C1849157	Resistance to Insulin-Like Growth Factor I	269	4
C1849158	Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein	215	3
C1852092	DIABETES MELLITUS, INSULIN-DEPENDENT, 2	-1	1228
C2931618	Gestational trophoblastic disease	-1	1228
C4225307	GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES	677	2
C0349489	Fetal Hypoxia	430	6
C0154822	Serous retinal detachment	70	5
C1862389	ATRIAL SEPTAL DEFECT 1	456	2
C0263338	Chronic urticaria	-1	1228
C0162539	IgG Deficiency disorder	287	4
C1832241	Agammaglobulinemia, non-Bruton type	-1	1228
C0265268	Adams Oliver syndrome	-1	1228
C3553748	ADAMS-OLIVER SYNDROME 3	134	3
C3150750	AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE	185	8
C1843096	Acrocapitofemoral Dysplasia	-1	1228
C0035243	Respiratory Tract Infections	430	6
C3810043	IMMUNODEFICIENCY 15	-1	1228
C0014179	Endometritis	660	2
C0022541	Kearns-Sayre syndrome	336	3
C0029400	Osteitis	511	24
C0035220	Respiratory Distress Syndrome, Newborn	-1	1228
C0162671	MELAS Syndrome	7	3
C0343068	Familial cold urticaria	255	2
C0524988	Schnitzler Syndrome	-1	1228
C0917796	Optic Atrophy, Hereditary, Leber	249	5
C2748507	INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY	445	3
C3890737	Autoinflammatory Syndrome	-1	1228
C0149642	Cervical lymphadenitis	385	5
C0854135	Pseudomonas aeruginosa infection	25	2
C2316212	Cryopyrin-Associated Periodic Syndromes	265	5
C0015930	Fetal Distress	309	73
C1275126	TNF receptor-associated periodic fever syndrome (TRAPS)	295	6
C0030360	Papillon-Lefevre Disease	-1	1228
C0038522	Subacute Sclerosing Panencephalitis	309	73
C0740451	Granulomatous disorder	379	2
C0024899	Mastocytosis	122	10
C0042166	Uveitis, Intermediate	-1	1228
C0342288	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	307	14
C1853392	Interleukin 2 Receptor, Alpha, Deficiency of	578	2
C1866040	DIABETES MELLITUS, INSULIN-DEPENDENT, 10	-1	1228
C0494261	Combined immunodeficiency	403	6
C0001883	Airway Obstruction	343	9
C0206061	Pneumonia, Interstitial	239	35
C0238790	bone destruction	694	12
C0242172	Pelvic Inflammatory Disease	310	13
C0030499	Parasitic Diseases	617	3
C0155880	Intrinsic asthma	-1	1228
C0263662	Disseminated eosinophilic collagen disease	-1	1228
C1540912	Hypereosinophilic syndrome	-1	1228
C4049006	Selective immunoglobulin A deficiency	90	2
C0008513	Chorioretinitis	-1	1228
C0042029	Urinary tract infection	10	2
C0206064	Microvascular Angina	-1	1228
C0271429	Acute otitis media	659	2
C0342793	Malonic aciduria	269	4
C0342953	Organ dysfunction syndrome	378	4
C1096155	Macrophage Activation Syndrome	279	25
C1636149	Macular dystrophy, corneal type 1	-1	1228
C1858558	Rheumatoid Arthritis, Systemic Juvenile	589	9
C1837028	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive	355	2
C0032768	Postherpetic neuralgia	169	5
C0343386	Clostridium difficile infection	-1	1228
C0520575	Acute pyelonephritis	-1	1228
C0014061	Tick-Borne Encephalitis	331	3
C0037054	Sickle Cell Trait	423	5
C0040156	Thyrotoxicosis	129	6
C0041228	African Trypanosomiasis	698	7
C0265338	Coffin-Siris syndrome	665	2
C0877445	Candidemia	291	23
C2751053	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE	-1	1228
C2675508	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE	394	20
C3280073	CRANIOSYNOSTOSIS AND DENTAL ANOMALIES	507	2
C0040261	Onychomycosis	226	21
C4013948	IMMUNODEFICIENCY 29	-1	1228
C4013949	IMMUNODEFICIENCY 30	56	4
C0276926	Schistosoma hematobium infection	449	5
C1290344	Nonspecific interstitial pneumonia	267	19
C3874381	Childhood nephrotic syndrome	647	2
C3494489	Autoimmune polyendocrinopathy syndrome, type 1	495	2
C1840284	LEBER CONGENITAL AMAUROSIS 11	178	2
C1867299	Retinitis Pigmentosa 10	185	8
C0006846	Cutaneous Candidiasis	151	2
C0600040	Chronic interstitial cystitis	579	6
C0023213	Ventricular Outflow Obstruction, Left	159	7
C0342283	Hyperproinsulinemia	346	3
C1853490	22q13.3 Deletion Syndrome	317	4
C3150617	Maturity-onset diabetes of the young, type 10	93	5
C0432194	Schneckenbecken dysplasia	230	2
C0432219	Opsismodysplasia	57	2
C0036992	Short Bowel Syndrome	-1	1228
C0271689	Insulin Receptor, Defect in	629	4
C0271690	Type 2 diabetes mellitus with acanthosis nigricans	409	19
C0271695	Rabson-Mendenhall Syndrome	339	11
C0342278	Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans	111	2
C1864952	Hyperinsulinemic Hypoglycemia, Familial, 5	680	2
C1960636	Dysglycemia	-1	1228
C0013312	Dupuytren Contracture	354	10
C0079683	Herlitz Disease	156	8
C1856934	Epidermolysis bullosa with pyloric atresia	-1	1228
C0265259	Popliteal pterygium syndrome	228	5
C1849718	POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE	629	4
C4225358	IMMUNODEFICIENCY 39	624	5
C0005689	Bladder Exstrophy	163	11
C0005129	Bernard-Soulier Syndrome	-1	1228
C0040015	Thrombasthenia	437	8
C1861195	Glanzmann Thrombasthenia, Autosomal Dominant	576	4
C0001127	Acidosis, Respiratory	-1	1228
C0079301	Junctional Epidermolysis Bullosa	-1	1228
C3553636	INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL	366	14
C2750786	Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	98	5
C3542025	AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE	-1	1228
C1456145	Dental caries of smooth surface	-1	1228
C2748536	Leukocyte Adhesion Deficiency, Type III	239	35
C0079295	Epidermolysis Bullosa Herpetiformis Dowling-Meara	532	2
C0079297	Epidermolysis Bullosa Progressiva	44	2
C0079298	Epidermolysis Bullosa Simplex	553	2
C0080333	Weber-Cockayne Syndrome	234	32
C0162361	Hidrotic Ectodermal Dysplasia	-1	1228
C0268374	Adult junctional epidermolysis bullosa (disorder)	361	2
C2608084	EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder)	565	5
C2673609	Epidermolysis bullosa inversa dystrophica	-1	1228
C2673610	JEB-I	172	2
C2677349	Epidermolysis Bullosa Simplex With Pyloric Atresia	-1	1228
C0272170	Shwachman syndrome	640	2
C0399376	Amelogenesis Imperfecta, Type III	-1	1228
C4015557	AMELOGENESIS IMPERFECTA, TYPE IH	-1	1228
C0431401	Gillespie syndrome	226	21
C1847725	SPINOCEREBELLAR ATAXIA 15	51	2
C1862871	ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS	397	3
C0014122	Subacute Bacterial Endocarditis	505	6
C0027013	Myeloid Metaplasia	404	4
C0242006	Myelofibrosis due to another disorder	-1	1228
C1861922	CAMPOMELIC DYSPLASIA	339	11
C3281125	THROMBOCYTHEMIA 3	484	2
C1969081	Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	-1	1228
C4015119	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26	645	2
C0344432	Ventricular tachycardia, polymorphic	359	6
C1859062	LONG QT SYNDROME 3	-1	1228
C1865018	Short QT Syndrome 3	285	18
C1865019	SHORT QT SYNDROME 2 (disorder)	466	10
C2348199	Short Qt Syndrome	409	19
C2732979	Acquired long QT syndrome	-1	1228
C3150943	Long Qt Syndrome 2	384	2
C3276240	LONG QT SYNDROME 2/3, DIGENIC	-1	1228
C3277700	LONG QT SYNDROME 1/2, DIGENIC (disorder)	-1	1228
C3279092	LONG QT SYNDROME 2/5, DIGENIC (disorder)	-1	1228
C3279093	LONG QT SYNDROME 2/9, DIGENIC	631	4
C3150733	LONG QT SYNDROME 13	-1	1228
C3150933	HYPERALDOSTERONISM, FAMILIAL, TYPE III	-1	1228
C0795905	Cantu syndrome	256	3
C2931783	Amelogenesis imperfecta nephrocalcinosis	394	20
C3809198	PULMONARY HYPERTENSION, PRIMARY, 4	-1	1228
C0022387	Jervell-Lange Nielsen Syndrome	395	3
C1837014	Atrial Fibrillation, Familial, 3	-1	1228
C1865871	HEMANGIOMA, CAPILLARY INFANTILE	137	9
C1847319	PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA	402	7
C1858592	Carney Triad	486	5
C3853548	Pdgfra-Associated Chronic Eosinophilic Leukemia	229	3
C0272339	Prekallikrein deficiency	322	4
C0272340	High molecular weight kininogen deficiency	70	5
C1856719	Kininogen Deficiency, Total	272	9
C1832661	ANOPHTHALMIA AND PULMONARY HYPOPLASIA	466	10
C1838329	APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS	-1	1228
C2674723	RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER	459	4
C0022584	Keratoderma, Palmoplantar, Diffuse	-1	1228
C0263580	Ichthyosis hystrix	278	7
C1721006	Keratoderma, Palmoplantar, Epidermolytic	239	35
C1833030	PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC	-1	1228
C1836681	Erythrokeratoderma, Reticular	266	3
C1843463	Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	-1	1228
C1862005	Epidermolytic Hyperkeratosis, Late-Onset	163	11
C0796195	Waisman syndrome	16	5
C1721005	Leukokeratosis, Hereditary Mucosal	-1	1228
C4014321	WHITE SPONGE NEVUS 2	388	2
C1832926	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)	522	3
C3715082	EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1	685	9
C0265334	Pachyonychia Congenita	577	6
C1706595	Pachyonychia Congenita, Jadassohn Lewandowsky Type	296	4
C1721007	Pachyonychia Congenita, Type 2 (disorder)	51	2
C3489771	Keratosis Palmaris et Plantaris Familiaris	370	6
C0267809	Cirrhosis, Cryptogenic	39	4
C0268074	Indian childhood cirrhosis	670	2
C1859088	COPPER TOXICOSIS, IDIOPATHIC	381	3
C1861556	Cirrhosis, Familial	-1	1228
C1876166	Endemic Tyrolean Infantile Cirrhosis	-1	1228
C1263858	Muscular dystrophy congenital, merosin negative	-1	1228
C1842898	Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency	389	3
C0014866	Esophageal Stenosis	335	5
C3808935	CARDIOMYOPATHY, DILATED, 1JJ	249	5
C3554657	LISSENCEPHALY 5	-1	1228
C1836876	Pierson syndrome	273	40
C3280113	NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES	719	11
C3501848	Nephrosis, congenital	289	2
C0878677	Glycogen Storage Disease Type IIb	402	7
C1442837	Myocardial necrosis	435	6
C2931230	Vacuolar myopathy	1	2
C1858379	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)	-1	1228
C0152109	Juvenile Spinal Muscular Atrophy	92	2
C0030779	Pelger-Huet Anomaly	386	2
C0748397	Reynolds syndrome	139	4
C2931048	HEM dysplasia	655	5
C4014233	IMMUNODEFICIENCY 22	311	4
C3279904	Lactate Dehydrogenase B Deficiency	665	2
C0342879	Primary hypercholesterolemia	277	3
C1863512	HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE	284	6
C0220989	Acquired partial lipodystrophy	304	19
C0341862	Hypothalamic amenorrhea	162	3
C3554224	LEPTIN DEFICIENCY OR DYSFUNCTION	496	4
C0002438	Amebiasis	-1	1228
C0013370	Amebic colitis	679	6
C1504412	Testotoxicosis	234	32
C2673497	Leydig Cell Hypoplasia, Type II	309	73
C3668935	Luteinizing Hormone Resistance, Female	534	10
C0796176	STUVE-WIEDEMANN SYNDROME	-1	1228
C4014869	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6	-1	1228
C0031039	Pericardial effusion	273	40
C0406585	Lethal tight skin contracture syndrome (disorder)	-1	1228
C0432291	Mandibuloacral dysostosis	390	2
C0796031	Malouf syndrome	-1	1228
C0796083	Najjar syndrome	-1	1228
C1836906	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	687	6
C1854154	Charcot-Marie-Tooth disease, Type 2B1	439	4
C1857829	Heart-hand syndrome, Slovenian type	309	73
C2748542	CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	-1	1228
C2750035	Emery-Dreifuss Muscular Dystrophy 3	247	2
C2750285	Progeria Syndrome, Childhood-Onset	-1	1228
C2750785	MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)	-1	1228
C3266164	Dropped head syndrome	-1	1228
C4275075	Atypical Werner syndrome	453	2
C4317112	Generalized Lipodystrophy	327	3
C0205711	Pelizaeus-Merzbacher Disease	-1	1228
C0751915	Pelizaeus-Merzbacher Disease, Atypical	93	5
C0027341	Nail-Patella Syndrome	367	6
C0267937	Acute recurrent pancreatitis	96	2
C1855498	Lipase deficiency combined	-1	1228
C0263428	Burnett Schwartz Berberian syndrome	-1	1228
C0263429	Atrophoderma vermiculatum	231	41
C1857277	Donnai-Barrow syndrome	184	3
C1866558	Neural tube defect, folate-sensitive	120	4
C1866559	Spina Bifida, Folate-Sensitive	581	2
C1970440	CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder)	392	3
C4225231	TOOTH AGENESIS, SELECTIVE, 7	643	6
C0265301	Sclerosteosis	514	2
C0432252	Osteoporosis with pseudoglioma	577	6
C0432273	Worth disease	341	7
C1843323	Van Buchem disease type 2	20	2
C1843330	OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	-1	1228
C1858556	OVERLAP CONNECTIVE TISSUE DISEASE	555	3
C1866176	EXUDATIVE VITREORETINOPATHY 4 (disorder)	-1	1228
C4072980	Exudative vitreoretinopathy	547	5
C4310613	POLYCYSTIC LIVER DISEASE 1	118	11
C4225300	CATARACT 44	394	20
C0398593	Specific granule deficiency	-1	1228
C0700345	Candidiasis, Vulvovaginal	-1	1228
C1836635	Loeys-Dietz Aortic Aneurysm Syndrome	615	4
C3151087	LOEYS-DIETZ SYNDROME 3	-1	1228
C0410000	Overlap syndrome	496	4
C0796081	Myhre syndrome	519	3
C1832942	JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)	339	11
C3542024	AORTIC VALVE DISEASE 2	12	2
C4479496	CRANIOSYNOSTOSIS 7	511	24
C3888002	PULMONARY HYPERTENSION, PRIMARY, 2	338	2
C1832812	Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation	-1	1228
C3888097	CATARACT 21, MULTIPLE TYPES	161	4
C0796275	Brunner Syndrome	179	10
C0011989	Camurati-Engelmann Syndrome	239	35
C0270920	Supranuclear paralysis	-1	1228
C0520716	Pallidopontonigral degeneration	226	21
C1838313	Pick Complex	-1	1228
C1868193	PNEUMOTHORAX, PRIMARY SPONTANEOUS	545	8
C2750737	DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL	-1	1228
C4011788	Behavioral variant of frontotemporal dementia	-1	1228
C4024936	Temporal cortical atrophy	-1	1228
C1708353	Hereditary Paraganglioma-Pheochromocytoma Syndrome	59	4
C0023529	Leukomalacia, Periventricular	-1	1228
C0268495	Oculocutaneous albinism type 2	253	2
C2678061	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	309	73
C0271742	Glucocorticoid deficiency with achalasia	290	2
C1955741	Glucocorticoid deficiency	-1	1228
C4049650	Familial Glucocorticoid Deficiency Type 1	-1	1228
C4310775	DEAFNESS, AUTOSOMAL DOMINANT 70	-1	1228
C4479655	MEIER-GORLIN SYNDROME 8	356	13
C0022951	Lactose Intolerance	333	3
C1857231	LACTASE PERSISTENCE	79	3
C4479208	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51	211	3
C0235820	Neonatal encephalopathy	-1	1228
C0796222	Mental Retardation, X-Linked 16	144	10
C1839332	Rett Syndrome, Preserved Speech Variant	-1	1228
C1848211	Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism	-1	1228
C1968550	Mental Retardation, X-Linked, Syndromic 13	499	3
C1968551	Mental Retardation, X-Linked 79	239	35
C1968552	Mental Retardation, X-Linked, With Spasticity	-1	1228
C1968556	ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	-1	1228
C2677682	Rett Syndrome, Zappella Variant	360	9
C2748910	Rett Syndrome, Atypical	708	3
C3150700	MENTAL RETARDATION, AUTOSOMAL DOMINANT 20	211	3
C3151064	46,XY SEX REVERSAL 6	-1	1228
C0346010	Multiple fibrofolliculomas	528	3
C1709353	Osteofibrous Dysplasia	310	13
C4084709	DEAFNESS, AUTOSOMAL RECESSIVE 97	83	2
C1855607	Keutel syndrome	661	2
C1859534	Bare Lymphocyte Syndrome, Type II, Complementation Group A	673	2
C1859535	Bare Lymphocyte Syndrome, Type II, Complementation Group B	304	19
C1859536	Bare Lymphocyte Syndrome, Type II, Complementation Group C	-1	1228
C1859537	Bare Lymphocyte Syndrome, Type II, Complementation Group D	342	2
C1859538	Bare Lymphocyte Syndrome, Type II, Complementation Group E	187	3
C0391816	Tietz syndrome	239	35
C1845069	ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)	160	2
C1847800	Waardenburg Syndrome Type 1	110	8
C1860339	WAARDENBURG SYNDROME, TYPE IIA	608	2
C1863198	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)	694	12
C2700405	WAARDENBURG SYNDROME, TYPE IIE	-1	1228
C4310625	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS	565	5
C0796074	MOHR-TRANEBJAERG SYNDROME	697	3
C0270972	Cornelia De Lange Syndrome	112	3
C1854630	Growth Deficiency and Mental Retardation with Facial Dysmorphism	260	6
C1854631	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy	298	14
C0079136	Cockayne-Touraine Disease	539	2
C0079294	Epidermolysis Bullosa Dystrophica	-1	1228
C2673611	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant	397	3
C2673612	Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive	360	9
C0432289	Winchester syndrome (disorder)	-1	1228
C0917715	Hajdu-Cheney Syndrome	533	3
C1850155	TORG-WINCHESTER SYNDROME	690	4
C0232197	Fibrillation	309	73
C1456868	Diabetic foot ulcer	245	2
C2751322	Metaphyseal Anadysplasia 2	201	7
C0432225	Metaphyseal chondrodysplasia Spahr type	529	4
C1865832	Spondyloepimetaphyseal Dysplasia, Missouri Type	383	2
C2748495	Metaphyseal Anadysplasia 1	-1	1228
C4082974	Dupuytren\'s Disease	61	2
C3275998	THROMBOCYTHEMIA 2	234	32
C0398595	Myeloperoxidase Deficiency	409	19
C2347126	Microscopic Polyarteritis	298	14
C4023113	Small vessel vasculitis	401	3
C2751318	Nijmegen Breakage Syndrome-Like Disorder	559	3
C4012790	Ataxia-Telangiectasisa-Like Disorder 1	118	11
C4479510	PREMATURE OVARIAN FAILURE 13	-1	1228
C4310812	IMMUNODEFICIENCY 50	309	73
C0403447	Chronic Kidney Insufficiency	682	2
C0795996	STRIATONIGRAL DEGENERATION, INFANTILE (disorder)	353	8
C1328349	Neuropathy ataxia and retinis pigmentosa	480	3
C1838916	ATAXIA AND POLYNEUROPATHY, ADULT-ONSET	-1	1228
C1839022	Striatonigral Degeneration, Infantile, Mitochondrial	72	3
C2931092	Maternally Inherited Leigh Syndrome	-1	1228
C3275684	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1	438	4
C4225415	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3	410	7
C4225591	MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient)	-1	1228
C3275685	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2	368	2
C3275686	CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY	657	2
C0162666	Mitochondrial Encephalomyopathies	712	3
C1708371	Histiocytoid Cardiomyopathy	-1	1228
C4540434	COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA	-1	1228
C0085652	Pyoderma Gangrenosum	201	7
C0268615	5,10-Methylenetetrahydrofolate reductase deficiency	563	3
C1855128	Methylcobalamin Deficiency, CblG Type	-1	1228
C1856058	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	650	2
C1856059	Mthfr Deficiency, Thermolabile Type	317	4
C1838979	MITOCHONDRIAL COMPLEX I DEFICIENCY	-1	1228
C2936907	NADH:Q(1) Oxidoreductase deficiency	31	5
C0342776	Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency	476	7
C1839040	LEBER OPTIC ATROPHY AND DYSTONIA	56	4
C1856057	Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type	273	40
C0268113	Familial juvenile gout	-1	1228
C1869117	Paroxysmal nonkinesigenic dyskinesia	-1	1228
C3553549	POROKERATOSIS 7, MULTIPLE TYPES	-1	1228
C0342731	Deficiency of mevalonate kinase	351	2
C0398691	Hyperimmunoglobulinemia D	334	3
C0431399	Familial aplasia of the vermis	696	3
C1867981	POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1	576	4
C1959626	Mevalonic Aciduria	402	7
C0220662	ARTHROGRYPOSIS, DISTAL, TYPE 1	-1	1228
C0265213	Distal arthrogryposis syndrome	-1	1228
C1969655	LETHAL CONGENITAL CONTRACTURAL SYNDROME 3	142	2
C3280526	ARTHROGRYPOSIS, DISTAL, TYPE 1B	366	14
C3554046	LETHAL CONGENITAL CONTRACTURE SYNDROME 4	417	12
C1839832	Noncompaction cardiomyopathy	565	5
C3715165	LEFT VENTRICULAR NONCOMPACTION 10	-1	1228
C3809346	CARDIOMYOPATHY, DILATED, 1MM	719	11
C2751306	Polycystic kidney disease, type 2	329	5
C2677092	MYD88 Deficiency	-1	1228
C3280703	MYOPATHY, CENTRONUCLEAR, 3	324	2
C0265224	Freeman-Sheldon syndrome	97	3
C1834523	ARTHROGRYPOSIS, DISTAL, TYPE 2B	385	5
C1867440	Multiple Pterygium Syndrome, Autosomal Dominant	156	8
C2750466	Cardiomyopathy, Dilated, 1EE	120	4
C2750467	Cardiomyopathy, Familial Hypertrophic, 14	-1	1228
C3279790	Atrial Septal Defect 3	511	24
C0265226	Hecht syndrome (disorder)	-1	1228
C1837245	Carney Complex Variant	-1	1228
C0398641	Epstein syndrome (disorder)	270	2
C0403445	Fechtner syndrome (disorder)	694	12
C1834478	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	340	3
C1854520	SEBASTIAN SYNDROME	222	8
C1861185	THROMBOCYTOPENIA 2 (disorder)	307	14
C1861512	Cochleosaccular degeneration of the inner ear and progressive cataracts	150	5
C1863659	DEAFNESS, AUTOSOMAL DOMINANT 17	217	8
C1851504	Aortic aneurysm, familial thoracic 4	70	5
C1834460	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10	627	6
C1837471	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8	499	3
C4310636	ATRIAL FIBRILLATION, FAMILIAL, 18	273	40
C3151077	AORTIC ANEURYSM, FAMILIAL THORACIC 7	483	3
C3279905	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6	234	32
C1276035	Pena-Shokeir syndrome type I	709	3
C0393538	Muscular Atrophy, Spinal, Type II	689	2
C2931358	Muscular atrophy, spinal, infantile chronic form	-1	1228
C1856245	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	501	4
C1855020	Acute necrotizing encephalopathy	101	2
C2751843	Leukoencephalopathy, Cystic, Without Megalencephaly	679	6
C1850569	Nemaline Myopathy 2	-1	1228
C1854678	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE	273	40
C4310790	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC	318	4
C0270913	Charcot-Marie-Tooth disease, Type 1C	339	11
C1843164	Charcot-Marie-Tooth disease, demyelinating, Type 1F	418	3
C1843225	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)	55	3
C0553586	Cafe-au-lait macules with pulmonary stenosis	273	40
C1834235	NEUROFIBROMATOSIS, FAMILIAL SPINAL	-1	1228
C1969623	NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME	-1	1228
C2931482	Neurofibromatosis-Noonan syndrome	309	73
C4540293	IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA	315	15
C0036310	Scheuermann\'s Disease	45	3
C0265211	Marshall-Smith syndrome	279	25
C3553660	SOTOS SYNDROME 2	354	10
C1846006	Ectodermal dysplasia, hypohidrotic, with immune deficiency	366	14
C4225277	IMMUNODEFICIENCY, COMMON VARIABLE, 12	296	4
C3149378	IMMUNODEFICIENCY, COMMON VARIABLE, 1	-1	1228
C3809991	IMMUNODEFICIENCY, COMMON VARIABLE, 10	-1	1228
C2677481	Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant	183	3
C1321756	Achalasia	-1	1228
C0949857	Mitochondrial Respiratory Chain Deficiencies	-1	1228
C0002963	Angina Pectoris, Variant	-1	1228
C0002986	Fabry Disease	-1	1228
C0010073	Coronary Artery Vasospasm	412	9
C0031190	Persistent Fetal Circulation Syndrome	-1	1228
C0162869	Aneurysm, Ruptured	-1	1228
C1257763	Overnutrition	-1	1228
C4014970	ADAMS-OLIVER SYNDROME 5	511	24
C0028064	Niemann-Pick Diseases	43	9
C0268247	Niemann-Pick Disease, Type D	144	10
C1843366	NIEMANN-PICK DISEASE, TYPE C2	708	3
C1850363	Niemann-Pick Disease, Nova Scotian Type	221	4
C3179455	Niemann-Pick Disease, Type C1	-1	1228
C0403399	Finnish congenital nephrotic syndrome	-1	1228
C1853124	NEPHROTIC SYNDROME, TYPE 3	417	12
C1868672	NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	25	2
C2677294	Atrial Fibrillation, Familial, 6	285	18
C3810401	ATRIAL STANDSTILL 2	6	3
C2750732	Noonan Syndrome 6	200	3
C2751092	Neuropathy, Hereditary Sensory And Autonomic, Type IIB	-1	1228
C2752089	Neuropathy, Hereditary Sensory And Autonomic, Type IIA	-1	1228
C3150896	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC	-1	1228
C3150972	NEUROPATHY, HEREDITARY SENSORY, TYPE ID	-1	1228
C3280168	NEUROPATHY, HEREDITARY SENSORY, TYPE IIC	250	5
C3539003	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI	231	41
C3809882	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII	666	4
C3810194	NEUROPATHY, HEREDITARY SENSORY, TYPE IF	602	3
C4225308	NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII	-1	1228
C3151303	Obesity, Hyperphagia, and Developmental Delay	457	4
C1849334	Robinow syndrome, autosomal recessive	590	3
C3151609	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS	257	7
C3151610	ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY	574	3
C1849011	SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	157	2
C0342684	Ocular albinism, type I	151	2
C3151752	NYSTAGMUS 6, CONGENITAL, X-LINKED	-1	1228
C0028860	Oculocerebrorenal Syndrome	587	2
C1845167	Dent Disease 2	224	5
C1848336	Dent disease 1	-1	1228
C2713392	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency	394	20
C0268414	Hyperphosphatasemia with bone disease	279	25
C0027609	Neonatal Abstinence Syndrome	-1	1228
C3151097	MEIER-GORLIN SYNDROME 2	77	7
C0342792	Succinyl-CoA:3-oxoacid CoA transferase deficiency	17	2
C4317154	COLE-CARPENTER SYNDROME 1	508	3
C0265219	Miller Dieker syndrome	413	6
C0431375	Classical Lissencephaly	405	2
C1848199	X-Linked Lissencephaly	695	3
C1848201	Subcortical Band Heterotopia	110	8
C0268465	Phenylketonuria II	503	2
C0751436	Hyperphenylalaninemia, Non-Phenylketonuric	-1	1228
C2678416	Hyperphenylalaninemia, Non-Pku Mild	-1	1228
C1096458	Vascular occlusion	214	2
C0263874	Degeneration of lumbar intervertebral disc	427	2
C1851920	Dopa-Responsive Dystonia	-1	1228
C0155299	Coloboma of optic disc	-1	1228
C1852759	Papillorenal syndrome	217	8
C3554721	Morning glory anomaly	73	2
C4014925	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7	510	4
C2931141	Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency	309	73
C0268194	Phosphoenolpyruvate carboxykinase deficiency	281	3
C3160738	FANCONI ANEMIA, COMPLEMENTATION GROUP D2	199	5
C4014676	ATAXIA-TELANGIECTASIA-LIKE DISORDER 2	-1	1228
C1837073	Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy	-1	1228
C1837454	SPINOCEREBELLAR ATAXIA 8	-1	1228
C3276228	ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE	82	2
C3553250	ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE	-1	1228
C0393590	Fahr\'s syndrome (disorder)	-1	1228
C3809645	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5	-1	1228
C0432284	Infantile myofibromatosis	309	73
C0730278	Severe nonproliferative diabetic retinopathy	-1	1228
C3554321	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	285	18
C3809084	MYOFIBROMATOSIS, INFANTILE, 2	-1	1228
C4225270	KOSAKI OVERGROWTH SYNDROME	-1	1228
C0034345	Pyruvate Dehydrogenase Complex Deficiency Disease	-1	1228
C0751597	Ataxia with Lactic Acidosis, Type I	85	2
C1839413	Pyruvate Dehydrogenase E1 Alpha Deficiency	267	19
C0403810	Oligosynaptic Infertility	-1	1228
C0342643	Autosomal recessive hypophosphatemic vitamin D refractory rickets	728	2
C1859728	Coronary Sclerosis, Medial, of Infancy	124	2
C2750078	Hypophosphatemic Rickets, Autosomal Recessive, 2	575	2
C3809781	Cole disease	-1	1228
C1839454	PROPERDIN DEFICIENCY, X-LINKED	159	7
C1839455	Properdin Deficiency, Type II	394	20
C1839456	Properdin Deficiency, Type III	445	3
C3553719	AMYOTROPHIC LATERAL SCLEROSIS 18	572	8
C0268149	Glycogen storage disease type X	-1	1228
C0684324	Deficiency of phosphoglycerate kinase	-1	1228
C1970848	Phosphoglycerate Kinase 1 Deficiency	505	6
C2752015	Glycogen Storage Disease XIV	-1	1228
C1861502	COLCHICINE RESISTANCE	-1	1228
C1865643	Cholestasis, progressive familial intrahepatic 3	105	2
C2609268	Low phospholipid-associated cholelithiasis	-1	1228
C3554241	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3	536	6
C1845151	Glycogen Storage Disease, Type IXD	257	7
C0017927	Glycogen Storage Disease Type VIII	621	3
C1844412	Liver Glycogenosis, X-Linked, Type II	163	11
C2748941	Glycogen Storage Disease, Type IXA2	309	73
C2751643	Glycogen Storage Disease IXC	504	2
C3694531	GLYCOGEN STORAGE DISEASE IXa1	-1	1228
C0543514	Glycogen Storage Disease IXB	197	2
C0221005	Mauriac\'s syndrome	319	4
C0751753	Carbamoyl-Phosphate Synthase I Deficiency Disease	499	3
C0022739	Klippel-Trenaunay-Weber Syndrome	-1	1228
C0276096	Mastitis-metritis-agalactia syndrome	35	2
C1865285	Megalencephaly cutis marmorata telangiectatica congenita	698	7
C2752042	Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi	360	9
C3554518	COWDEN SYNDROME 5	288	3
C3714976	ACTIVATED PI3K-DELTA SYNDROME	-1	1228
C3554689	AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE	-1	1228
C4014934	IMMUNODEFICIENCY 36	-1	1228
C4012727	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1	-1	1228
C1842031	IRIDOGONIODYSGENESIS, TYPE 2	-1	1228
C1867155	RING DERMOID OF CORNEA	410	7
C0340968	Deficiency of pyruvate kinase	124	2
C1863224	Adenosine Triphosphate, Elevated, Of Erythrocytes	506	2
C0007177	Cardiac Tamponade	146	5
C3553404	AURICULOCONDYLAR SYNDROME 2	505	6
C3553961	AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED	-1	1228
C1859330	Cardiac Valvular Defect, Developmental	556	2
C0432317	Epidermolysis bullosa simplex, Ogna type	-1	1228
C2931072	Epidermolysa bullosa simplex and limb girdle muscular dystrophy	433	6
C3150989	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q	274	6
C4225309	EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY	66	2
C0022573	Keratoconjunctivitis	-1	1228
C1274789	Ligneous conjunctivitis	447	3
C1956391	Temporal Arteritis	-1	1228
C1968804	Plasminogen Deficiency, Type I	319	4
C4225445	PLASMINOGEN DEFICIENCY, TYPE II	222	8
C2752081	ALPHA-2-PLASMIN INHIBITOR DEFICIENCY	186	5
C1835928	CARDIOMYOPATHY, DILATED, 1P	-1	1228
C3151265	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	353	8
C0349653	Congenital disorder of glycosylation type 1A	91	5
C1832736	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id	306	5
C1835849	Congenital Disorder Of Glycosylation, Type Im	614	3
C1836669	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If	407	2
C1837396	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie	-1	1228
C1842836	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	501	4
C1865145	Congenital disorder of glycosylation type 1B	309	73
C2677590	Congenital Disorder Of Glycosylation, Type In	-1	1228
C2752007	Congenital Disorder of Glycosylation, Type Io	309	73
C2930997	Congenital disorder of glycosylation type 1C	542	7
C2931001	Congenital disorder of glycosylation type 1G	579	6
C2931002	Congenital disorder of glycosylation type 1H	210	2
C2931004	Congenital disorder of glycosylation type 1J	234	32
C2931005	Congenital disorder of glycosylation type 1K	-1	1228
C2931006	Congenital disorder of glycosylation type 1L	312	10
C2931007	Congenital disorder of glycosylation type 1X	112	3
C3150191	Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities	301	15
C3150913	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip	339	11
C3281084	Congenital disorder of glycosylation type 1r	298	14
C3550904	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36	234	32
C3554385	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu	-1	1228
C3810062	Congenital disorder of glycosylation type 1w	-1	1228
C4012395	Congenital disorder of glycosylation type 1y	470	2
C4317295	Congenital disorder of glycosylation type 1s	207	4
C1845050	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	161	4
C3715192	ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME	517	5
C3554576	FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE	309	73
C0205710	Alpers Syndrome (disorder)	449	5
C0342782	Depletion of mitochondrial DNA	512	2
C1843851	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	-1	1228
C1843852	SPINOCEREBELLAR ATAXIA WITH EPILEPSY	716	2
C1843920	COENZYME Q10 DEFICIENCY	451	5
C1850303	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	-1	1228
C3150914	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)	-1	1228
C3683791	Ataxia Neuropathy Spectrum	373	2
C4225153	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1	315	15
C4225409	EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY	304	19
C4225440	EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY	-1	1228
C1836727	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease	-1	1228
C2750452	Waardenburg Syndrome, Type 4c	555	3
C2931876	Hirschsprung disease 1	213	7
C0338596	Spastic cerebral palsy	299	3
C0917800	Epilepsy, Myoclonic, Infantile	-1	1228
C1857854	Proopiomelanocortin Deficiency	-1	1228
C4053775	Pituitary stalk interruption syndrome	137	9
C2675519	Hypoadiponectinemia	-1	1228
C0010691	Cystinuria	239	35
C0151861	Porphyruria	498	4
C0342860	Homozygous variegate porphyria	483	3
C2936913	Porphyria, South African type	291	23
C3149848	VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT	234	32
C4479577	NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2	298	14
C1858501	Spinocerebellar Ataxia 12	309	73
C1801950	Opitz-G syndrome, type 2	-1	1228
C4225354	MENTAL RETARDATION, AUTOSOMAL DOMINANT 35	309	73
C4540199	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD	138	2
C0272199	Familial Hemophagocytic Lymphocytosis	-1	1228
C1275685	Avellino corneal dystrophy	554	2
C2931071	Dianzani autoimmune lymphoproliferative syndrome	-1	1228
C4014425	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4	-1	1228
C4016748	CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC	585	2
C4015405	BLEEDING DISORDER, PLATELET-TYPE, 19	546	2
C1864846	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder)	-1	1228
C1864851	Pigmented Nodular Adrenocortical Disease, Primary, 2	561	10
C2607929	Carney Complex, Type 1	437	8
C3809928	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	-1	1228
C1854369	Spinocerebellar ataxia 14	-1	1228
C1865926	Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)	-1	1228
C3149841	POLYCYSTIC KIDNEY DISEASE 1	503	2
C4479250	CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA	309	73
C1832322	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	239	35
C4014833	IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	-1	1228
C0008525	Choroideremia	-1	1228
C3809513	AORTIC ANEURYSM, FAMILIAL THORACIC 8	-1	1228
C3489791	Parkinson Disease, Familial, Type 1	11	2
C4024900	Atrophy/Degeneration affecting the brainstem	291	23
C0271789	Hypothyroidism, Congenital, Nongoitrous, 4	-1	1228
C2674321	Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant	442	3
C2674322	Protein C Deficiency, Acquired	102	2
C2676759	THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE	548	2
C3278211	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT	-1	1228
C3281092	THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE	98	5
C1842914	Adult-Onset Vitelliform Macular Dystrophy	-1	1228
C0796028	ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION	312	10
C1839566	CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5	122	10
C1844677	DEAFNESS, X-LINKED 1 (disorder)	-1	1228
C1970827	Phosphoribosylpyrophosphate Synthetase Superactivity	243	4
C0796032	Malpuech facial clefting syndrome	-1	1228
C0796059	Oculopalatoskeletal syndrome	-1	1228
C0796279	Carnevale syndrome	180	3
C0796089	LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	452	5
C1838062	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	-1	1228
C4225327	EPILEPSY, FAMILIAL TEMPORAL LOBE, 7	-1	1228
C1857813	Macular Degeneration, Age-Related, 7	625	2
C4024918	Recurrent subcortical infarcts	-1	1228
C4225211	CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2	557	4
C1850568	Nakajo syndrome	273	40
C4479599	STANKIEWICZ-ISIDOR SYNDROME	167	4
C1291463	Deficiency of phosphoserine phosphatase	-1	1228
C1320214	Invasive Streptococcus pneumoniae disease	561	10
C1835820	HOLOPROSENCEPHALY 7	-1	1228
C0030517	Parathyroid Diseases	1	2
C1834711	CEREBELLOPARENCHYMAL DISORDER VI	-1	1228
C1834712	Cerebellar Granule Cell Hypertrophy and Megalencephaly	-1	1228
C1854416	MACROCEPHALY/AUTISM SYNDROME	492	5
C2243051	Large head (disorder)	547	5
C2749240	Vater Association With Macrocephaly And Ventriculomegaly	363	3
C1846534	ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1	378	4
C0271829	Pendred\'s syndrome	183	3
C0265295	Jansen type metaphyseal chondrodysplasia	-1	1228
C0733682	Hypophosphatemic Rickets, X-Linked Dominant	-1	1228
C1840334	Hypoparathyroidism, Autosomal Recessive	382	2
C1859148	Chondrodysplasia, blomstrand type	343	9
C0744310	gastritis h pylori	-1	1228
C1839264	SPASTIC PARAPLEGIA 2, X-LINKED (disorder)	516	2
C3150644	BRACHYDACTYLY, TYPE E2	346	3
C1838779	Eiken Skeletal Dysplasia	334	3
C1852222	Failure of Tooth Eruption, Primary	92	2
C0410530	Metachondromatosis	273	40
C4014918	BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2	-1	1228
C4015357	MENTAL RETARDATION, AUTOSOMAL DOMINANT 31	417	12
C0017925	Glycogen Storage Disease Type VI	710	2
C1842398	Neutrophil Immunodeficiency Syndrome	511	24
C1969056	LEOPARD SYNDROME 2	-1	1228
C1969057	Noonan Syndrome 5	652	3
C4014656	CARDIOMYOPATHY, DILATED, 1NN	285	18
C3809803	MICROPHTHALMIA, SYNDROMIC 12	309	73
C1845667	RETINITIS PIGMENTOSA 3	-1	1228
C1848435	WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS	-1	1228
C3554593	RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME	310	13
C4225330	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10	-1	1228
C0155015	Color Blindness, Red	-1	1228
C0311338	Fundus Albipunctatus	636	2
C1405854	Retinitis punctata albescens (disorder)	-1	1228
C3665342	Progressive cone degeneration	279	25
C1970239	DEAFNESS, AUTOSOMAL RECESSIVE, 24	594	2
C4025231	Chronic calcifying pancreatitis	354	10
C4539811	IMMUNODEFICIENCY 53	343	9
C0014599	Epithelial hyperplasia	-1	1228
C2751310	Hyperuricemic Nephropathy, Familial Juvenile 2	713	2
C0268397	Amyloidosis, Primary Cutaneous	395	3
C1318500	Non-toxic nodular goiter	557	4
C0029128	Optic Disk Drusen	159	7
C0154832	Exudative retinopathy	-1	1228
C1864869	Night Blindness, Congenital Stationary, Autosomal Dominant 1	80	3
C3151001	Retinitis Pigmentosa 4	58	2
C4072872	obsolete Rod-cone dystrophy	550	2
C1843816	Bothnia Retinal Dystrophy	-1	1228
C0392475	Roberts-SC phocomelia syndrome	-1	1228
C4225266	IMMUNODEFICIENCY 42	675	3
C0406704	Rudiger syndrome 1	218	2
C1854442	SPLIT-HAND/FOOT MALFORMATION 4	419	4
C1858080	Retinal Dystrophy, Early Onset Severe	-1	1228
C1859844	LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)	73	2
C1863204	ADULT SYNDROME	589	9
C3151086	Retinitis Pigmentosa 20	574	3
C0265265	Aase syndrome	347	3
C4478383	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35	-1	1228
C2675512	Diamond-Blackfan Anemia 7	476	7
C4014563	HYPOTRICHOSIS 12	457	4
C3554042	DIAMOND-BLACKFAN ANEMIA 11	234	32
C4479424	DIAMOND-BLACKFAN ANEMIA 16	233	10
C2675859	Diamond-Blackfan Anemia 5	-1	1228
C0034888	Rectal Prolapse	-1	1228
C0265252	Coffin-Lowry syndrome	-1	1228
C2675511	Diamond-Blackfan Anemia 8	-1	1228
C2750081	Diamond-Blackfan Anemia 9	-1	1228
C2675860	Diamond-Blackfan Anemia 4	558	8
C0265965	Dyskeratosis Congenita	-1	1228
C2676137	Diamond-Blackfan Anemia 1	-1	1228
C4479431	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY	-1	1228
C1857719	Anemia, Diamond-Blackfan, 3	446	5
C1853576	Diamond-Blackfan Anemia With Microtia And Cleft Palate	654	4
C2750080	Diamond-Blackfan Anemia 10	248	5
C0026703	Mucopolysaccharidoses	-1	1228
C0086647	Mucopolysaccharidosis Type IIIA	376	5
C0086795	Pfaundler-Hurler Syndrome	-1	1228
C4479428	DIAMOND-BLACKFAN ANEMIA 17	54	2
C4014641	DIAMOND-BLACKFAN ANEMIA 13	173	8
C0268141	Xeroderma pigmentosum, group G	267	19
C1840365	King Denborough syndrome	600	4
C1861751	Minicore Myopathy, Moderate, with Hand Involvement	234	32
C1861752	Multicore Myopathy, Moderate, with Hand Involvement	9	2
C1861753	Multiminicore Disease, Moderate, with Hand Involvement	561	10
C2674259	NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder)	451	5
C1832931	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	-1	1228
C2930902	Bidirectional tachycardia	600	4
C0010036	Corneal dystrophy	-1	1228
C3887525	Keratosis Follicularis Spinulosa Decalvans, X-Linked	273	40
C0343055	Generalized pustular psoriasis	244	9
C4225189	MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS	354	10
C4024710	Cerebellar cortical atrophy	257	7
C1836824	Amish Infantile Epilepsy Syndrome	440	2
C0344431	Ventricular tachycardia, monomorphic	-1	1228
C1832680	CARDIOMYOPATHY, DILATED, 1E	301	15
C1837845	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	29	2
C1861983	Heart Block, Nonprogressive	558	8
C1861984	Cardiac Conduction Defect, Nonprogressive	437	8
C2931401	Long QT syndrome type 3	216	4
C3151464	ATRIAL FIBRILLATION, FAMILIAL, 10	370	6
C3276241	LONG QT SYNDROME 3/6, DIGENIC Disorder	720	6
C3150990	LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY	310	13
C0275551	Primary bacterial peritonitis	-1	1228
C0042167	Uveitis, Posterior	-1	1228
C1855008	Mitochondrial Complex II Deficiency	394	20
C3150898	CARDIOMYOPATHY, DILATED, 1GG	-1	1228
C3279992	PARAGANGLIOMAS 5	129	6
C3552552	COWDEN SYNDROME 2	-1	1228
C0042928	Vocal Cord Paralysis	81	2
C1854336	PARAGANGLIOMAS 3	-1	1228
C0342777	Succinate-coenzyme Q reductase deficiency	187	3
C1868633	Paragangliomas with Sensorineural Hearing Loss	326	2
C3532243	Fatal infantile mitochondrial cardiomyopathy	-1	1228
C3554516	COWDEN SYNDROME 3	181	6
C2936332	Alpha-Sarcoglycanopathies	-1	1228
C1858593	Limb-girdle muscular dystrophy, type 2E	-1	1228
C2930900	Beta-sarcoglycanopathy	226	21
C1832525	Limb-girdle muscular dystrophy type 2F	335	5
C1847667	CARDIOMYOPATHY, DILATED, 1L	362	7
C1849140	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE	112	3
C1840529	HOLOPROSENCEPHALY 3	452	5
C1868114	POLYDACTYLY, PREAXIAL II (disorder)	-1	1228
C1968843	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)	-1	1228
C1321551	Shprintzen-Goldberg syndrome	309	73
C1832855	CHOREOATHETOSIS/SPASTICITY, EPISODIC	534	10
C1837206	Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly	182	3
C1842534	DYSTONIA 18 (disorder)	-1	1228
C1847501	Glut1 Deficiency Syndrome	-1	1228
C3149117	GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE	168	3
C4085238	MYOCLONIC-ATONIC EPILEPSY	49	2
C0271826	Iodide transport defect	601	6
C1848805	Thyroid Dyshormonogenesis 1	-1	1228
C0011430	Dentin Dysplasia	-1	1228
C2930833	Irritable heart	490	3
C2751067	Parkinsonism-Dystonia, Infantile	591	3
C0393738	Chronic tension-type headache	309	73
C0522254	Analgesic Overuse Headache	-1	1228
C4225383	LICHTENSTEIN-KNORR SYNDROME	519	3
C0267557	Secretory diarrhea	278	7
C0220666	ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	-1	1228
C0268450	Gitelman Syndrome	64	3
C3469605	PSEUDOHYPOALDOSTERONISM, TYPE IID	-1	1228
C1855577	Erythrocyte Lactate Transporter Defect	-1	1228
C1864902	Hyperinsulinemic hypoglycemia, familial, 7	496	4
C4015186	MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY	-1	1228
C0795889	Allan-Herndon-Dudley syndrome (AHDS)	639	4
C1849409	Knobloch syndrome	133	2
C1303073	Nicolaides Baraitser syndrome	377	2
C0795915	Winter Shortland Temple syndrome	-1	1228
C0268242	Niemann-Pick Disease, Type A	13	2
C0268243	Niemann-Pick Disease, Type B	-1	1228
C2675646	NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)	417	12
C1850100	PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder)	337	4
C1851957	Diffuse Lewy Body Disease with Gaze Palsy	669	2
C1851958	Lewy Body Variant of Alzheimer Disease	-1	1228
C1868595	PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)	690	4
C1868596	Atypical Parkinson Disease	500	3
C4511452	Sporadic Parkinson disease	-1	1228
C0265342	Cerebrocostomandibular Syndrome	-1	1228
C3554409	HYPOTRICHOSIS 11	52	2
C2751830	Long Qt Syndrome 12	180	3
C0270763	Familial Motor Neuron Disease	615	4
C3825201	Mitochondrial pathology	482	2
C1853120	Noonan Syndrome 4	-1	1228
C4225282	NOONAN SYNDROME 9	719	11
C1859773	Microphthalmia, Syndromic 3	307	14
C1859774	Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System	-1	1228
C4225202	LAMB-SHAFFER SYNDROME	285	18
C1842462	CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	273	40
C1861923	Acampomelic Campomelic Dysplasia	309	73
C3549544	ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	-1	1228
C4225301	OSTEOGENESIS IMPERFECTA, TYPE XVII	117	2
C3150731	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5	-1	1228
C4310789	THROMBOCYTOPENIA 6	452	5
C0267834	Liver cyst	486	5
C3151088	IMMUNODEFICIENCY 31B	273	40
C3279990	CANDIDIASIS, FAMILIAL, 7	703	4
C4013950	IMMUNODEFICIENCY 31A	-1	1228
C3489795	Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant	137	9
C4014795	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	615	4
C1855548	Laron syndrome type 2	630	6
C2677326	Epileptic Encephalopathy, Early Infantile, 4	642	2
C2751293	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5	589	9
C1855792	ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1	43	9
C3536797	Ichthyosis Congenita II	-1	1228
C3543867	Collodion Fetus	459	4
C1857355	Leigh syndrome , French Canadian type	545	8
C4225246	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K	663	2
C1845343	Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders	137	9
C3553844	HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	43	9
C4310702	ALAZAMI-YUAN SYNDROME	488	2
C2931461	Forney Robinson Pascoe syndrome	58	2
C4310697	FRONTOMETAPHYSEAL DYSPLASIA 2	-1	1228
C1291329	Transaldolase Deficiency	443	2
C1861129	Takao VCF Syndrome	309	73
C0265264	Holt-Oram syndrome	366	14
C1970431	PITT-HOPKINS SYNDROME	131	2
C1840646	Hepatic Adenomas, Familial	-1	1228
C2675866	DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	328	8
C0271288	Corneal guttata	35	2
C0339284	Polymorphous corneal dystrophy	-1	1228
C0544008	Chandler syndrome	544	3
C1857569	CORNEAL ENDOTHELIAL DYSTROPHY 2	410	7
C2750448	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6	551	5
C0342701	Transcobalamin II deficiency	572	8
C2931837	Familial hypertryptophanemia	22	3
C4310639	GLAUCOMA 3, PRIMARY CONGENITAL, E	166	10
C3532239	Mitochondrial cardiomyopathy	59	4
C4310690	MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE)	239	35
C0265234	Branchio-Oto-Renal Syndrome	-1	1228
C0376524	Branchio-Oculo-Facial Syndrome	497	5
C1837210	OROFACIAL CLEFT 5	693	2
C1970479	Branchiootorenal Syndrome 2	-1	1228
C3810363	BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME	-1	1228
C4014310	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4	545	8
C0018022	Endemic goiter	-1	1228
C0271790	Subclinical hypothyroidism	302	13
C0271791	Severe hypothyroidism	461	3
C0302859	Euthyroid Goiter	82	2
C0342162	Compensated hypothyroidism	418	3
C0342191	Familial dyshormonogenetic goiter	-1	1228
C0342194	Thyroid Dyshormonogenesis 3	-1	1228
C1321809	HYPOTHYROIDISM, GOITROUS	639	4
C3553762	LOEYS-DIETZ SYNDROME 4	709	3
C1862511	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder)	500	3
C3810012	RIENHOFF SYNDROME	122	10
C0175707	Asplenia Syndrome	-1	1228
C1866091	Left-Right Axis Malformations	310	13
C3178805	Heterotaxy Syndrome	403	6
C2674127	LOEYS-DIETZ SYNDROME, TYPE 2A (disorder)	491	2
C2697933	Loeys-Dietz Syndrome Type 1	-1	1228
C2931764	Furlong syndrome	257	7
C2674574	Aortic aneurysm, familial thoracic 3	-1	1228
C2674876	LOEYS-DIETZ SYNDROME, TYPE 1B	-1	1228
C2931058	Marfan Syndrome type 2	446	5
C1840528	HOLOPROSENCEPHALY 4 (disorder)	328	8
C2673535	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	213	7
C3280976	Thrombophilia due to Thrombomodulin Defect	214	2
C3280817	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6	-1	1228
C1840364	THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	-1	1228
C2937288	THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	57	2
C3489796	Thyroid Hormone Resistance, Generalized, Autosomal Recessive	-1	1228
C1850938	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	141	8
C3149750	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)	109	5
C4310734	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3	226	21
C4310751	SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS	511	24
C0085426	Gram-Positive Bacterial Infections	276	13
C0221014	Reactive systemic amyloidosis	267	19
C0868908	Pancolitis	-1	1228
C2314882	Reproductive tract infection	672	2
C3495919	Enthesitis-Related Arthritis	394	20
C3536715	AA amyloidosis	541	2
C0085423	Gram-Negative Bacterial Infections	476	7
C1864267	Endotoxin Hyporesponsiveness	221	4
C2350529	Pulmonary Aspergillosis	41	2
C2350530	Bronchopulmonary Aspergillosis	-1	1228
C0008029	Cherubism	545	8
C0020725	Type II Mucolipidosis	511	24
C0024140	Lupus Erythematosus, Subacute Cutaneous	-1	1228
C0162359	Christ-Siemens-Touraine syndrome	285	18
C0206178	Cytomegalovirus Retinitis	655	5
C0242994	Hantavirus Infections	309	73
C1719495	Aggressive periodontitis, generalized	697	3
C1858361	Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	-1	1228
C3541517	ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	-1	1228
C3887494	ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	-1	1228
C3888065	ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	-1	1228
C3889136	Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome	571	2
C3890941	Acute Motor Axonal Neuropathy	-1	1228
C4225218	AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE	-1	1228
C0014733	Erysipelas	694	12
C0031046	Pericarditis	161	4
C2678475	Cardiomyopathy, Dilated, 1z	394	20
C2750472	Cardiomyopathy, Familial Hypertrophic, 13	-1	1228
C1860752	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7	648	2
C2678474	CARDIOMYOPATHY, DILATED, 2A (disorder)	285	18
C2750091	Cardiomyopathy, Dilated, 1FF	-1	1228
C1854380	NEMALINE MYOPATHY 5	-1	1228
C0342751	Generalized glycogen storage disease of infants	623	4
C0751173	Glycogen Storage Disease Type II, Infantile	693	2
C1832243	CARDIOMYOPATHY, DILATED, 1D (disorder)	302	13
C1861864	Cardiomyopathy, Familial Hypertrophic, 2	423	5
C2676271	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)	-1	1228
C4014831	VESICOURETERAL REFLUX 8	178	2
C0085694	Chronic cholecystitis	68	2
C0751038	Cockayne Syndrome, Type II	416	3
C1833561	UV-Sensitive Syndrome	316	5
C1835398	LI-FRAUMENI SYNDROME 1	-1	1228
C1836482	Li-Fraumeni Syndrome 2	-1	1228
C2675080	Li-Fraumeni-Like Syndrome	-1	1228
C2752147	XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C	-1	1228
C1860808	Triosephosphate Isomerase Deficiency	-1	1228
C1861863	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder)	301	15
C2678476	Cardiomyopathy, Dilated, 1y	570	5
C3808145	LEFT VENTRICULAR NONCOMPACTION 9	433	6
C1836447	Nemaline myopathy 4	478	3
C3807907	CAP MYOPATHY 2	315	15
C1836448	Nemaline myopathy 1	231	41
C3714994	CAP MYOPATHY 1	239	35
C1291299	Deficiency of iodide peroxidase (disorder)	239	35
C3887639	Autoimmune gastritis	163	11
C3539920	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	-1	1228
C1861106	Thyrotropin-Releasing Hormone Resistance, Generalized	603	3
C4310740	MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	-1	1228
C1858915	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2	591	3
C2750460	Tsc2 Angiomyolipomas, Renal, Modifier Of	-1	1228
C0302840	Toxic thyroid adenoma	-1	1228
C1262098	Congenital hyperthyroidism	163	11
C1836706	Hyperthyroidism, Nonautoimmune	279	25
C1863959	Hyperthyroidism, Familial Gestational	-1	1228
C0221054	Welander Distal Myopathy	-1	1228
C1450052	Tibial Muscular Dystrophy	349	4
C1836118	LEFT VENTRICULAR NONCOMPACTION 2	240	3
C1837342	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J	-1	1228
C1858763	Cardiomyopathy, Dilated, 1g	315	15
C1861065	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	-1	1228
C2673677	Myopathy, Early-Onset, with Fatal Cardiomyopathy	719	11
C4015512	AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	-1	1228
C3810407	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5	257	7
C0033377	Ptosis	289	2
C1863370	Saethre-Chotzen Syndrome with Eyelid Anomalies	-1	1228
C1863371	BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY	122	10
C1867146	Robinow Sorauf syndrome	-1	1228
C0268596	Multiple Acyl Coenzyme A Dehydrogenase Deficiency	424	2
C1969086	Tyrosine Kinase 2 Deficiency	175	3
C0040963	Tricuspid Valve Stenosis	9	2
C0079504	Hermanski-Pudlak Syndrome	543	4
C0268494	Oculocutaneous albinism type 1	-1	1228
C0342683	ALBINISM, OCULOCUTANEOUS, TYPE III	251	2
C1847024	ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)	562	3
C1847132	ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE	700	4
C1847836	Oculocutaneous Albinism, Type IV	-1	1228
C1844934	Arthrogryposis multiplex congenita, distal, X-linked	47	3
C3150899	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT	563	3
C3809665	SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE	577	6
C0268130	Hereditary orotic aciduria, type 1	-1	1228
C3278622	OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA	201	7
C3554606	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3	615	4
C3554608	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	325	3
C0162569	Hepatoerythropoietic Porphyria	312	10
C0268323	Familial porphyria cutanea tarda	-1	1228
C0342861	Uroporphyrinogen decarboxylase deficiency	309	73
C1867968	Porphyria Cutanea Tarda, Type I	18	2
C1969639	Cardiomyopathy, Dilated, 1w	273	40
C2750459	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15	123	2
C0015302	External exotoses	649	2
C2363065	Vitamin D-resistant rickets	45	3
C0271051	Macular retinal edema	581	2
C0271084	Exudative age-related macular degeneration	174	2
C0730285	Diabetic macular edema	-1	1228
C0950121	Denys-Drash Syndrome	301	15
C3887654	POLYARTERITIS NODOSA, CHILDHOOD-ONSET	-1	1228
C4014628	LYMPHEDEMA, HEREDITARY, ID	267	19
C1850386	GIANT AXONAL NEUROPATHY 1	348	2
C3805411	CATARACT 30	315	15
C0700323	Observation of Neuromuscular Block	270	2
C1264040	von Willebrand Disease, Type 2	-1	1228
C1280798	Von Willebrand disease, platelet type	374	5
C1282968	von Willebrand Disease, Type 2A	-1	1228
C1282974	von Willebrand disease type 2M	394	20
C3641106	Congenital Bleeding Disorder	-1	1228
C4540265	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX	-1	1228
C1839164	Thrombocytopenia, X-Linked, Intermittent	-1	1228
C1845987	Neutropenia, Severe Congenital, X-Linked	222	8
C3808844	OSTEOGENESIS IMPERFECTA, TYPE XV	562	3
C1838703	Bladder Exstrophy and Epispadias Complex	231	41
C4012268	TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE	-1	1228
C1848651	Al Awadi syndrome	-1	1228
C1856728	Fuhrmann syndrome	589	9
C2749665	SPLIT-HAND/FOOT MALFORMATION 6 (disorder)	206	2
C4310730	TOOTH AGENESIS, SELECTIVE, 8	-1	1228
C1698581	Rokitansky Kuster Hauser syndrome	231	41
C0950122	Frasier Syndrome	310	13
C1837026	MEACHAM SYNDROME (disorder)	408	3
C0268118	Xanthinuria, Type I	236	3
C1858725	NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1	463	5
C0270724	Infantile Neuroaxonal Dystrophy	234	32
C2931845	Neurodegeneration with brain iron accumulation (NBIA)	309	73
C1849236	Severe combined immunodeficiency, atypical	490	3
C2931299	ZAP70 deficiency	428	4
C4310768	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	179	10
C1842486	Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc	88	3
C4014291	OOCYTE MATURATION DEFECT 1	267	19
C1969029	Lissencephaly 3	417	12
C4310713	MACULAR DYSTROPHY, PATTERNED, 3	-1	1228
C3280315	Platelet-Activating Factor Acetylhydrolase Deficiency	-1	1228
C0342642	Autosomal dominant hypophosphatemic rickets	702	4
C0029455	Osteopoikilosis (disorder)	-1	1228
C4310665	AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6	222	8
C0948368	Kaufman-McKusick syndrome	510	4
C1858054	BARDET-BIEDL SYNDROME 6	526	11
C1802395	Congenital muscular hypertrophy-cerebral syndrome	-1	1228
C1853099	Cornelia de Lange Syndrome 3	533	3
C4310738	MEIER-GORLIN SYNDROME 7	56	4
C3279974	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10	356	13
C1456144	Dental caries pit and fissure	212	2
C0018523	Hallervorden-Spatz Syndrome	362	7
C0338473	Neuroaxonal Dystrophies	3	3
C1857747	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)	201	7
C2750220	Karak Syndrome	173	8
C2751842	PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE	-1	1228
C1857242	Rhizomelic chondrodysplasia punctata, type 2	375	10
C0008780	Ciliary Motility Disorders	309	73
C0022521	Kartagener Syndrome	-1	1228
C0029294	Orofaciodigital Syndromes	276	13
C1419610	RP23 gene	-1	1228
C1510460	Orofaciodigital Syndrome I	199	5
C1846175	SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)	602	3
C2745997	OROFACIODIGITAL SYNDROME VI	595	2
C2749019	JOUBERT SYNDROME 10 (disorder)	125	2
C4317124	Polynesian Bronchiectasis	-1	1228
C4479517	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD	115	2
C1845073	INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder)	487	2
C1845117	Immunodeficiency without anhidrotic ectodermal dysplasia	273	40
C1845919	Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema	-1	1228
C1846008	HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	549	2
C1970879	ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder)	267	19
C2930820	Incontinentia pigmenti, familial male-lethal type	267	19
C1838612	Rhizomelic chondrodysplasia punctata, type 3	237	4
C1843791	CARDIOMYOPATHY, DILATED, 1N	409	19
C1866008	Muscular Dystrophy, Limb-Girdle, Type 2G	703	4
C4225408	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25	156	8
C1842237	Charcot-Marie-Tooth Disease, Dominant Intermediate C	286	3
C1261175	Pontoneocerebellar hypoplasia	-1	1228
C2677903	Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia	-1	1228
C3275356	MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS	156	8
C2677567	DYSTONIA 16 (disorder)	576	4
C1850126	Osteopetrosis, mild autosomal recessive form	-1	1228
C3179239	Osteopetrosis Autosomal Dominant Type 2	173	8
C3280094	PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3	352	3
C4310808	STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1	656	2
C0268487	Tyrosine Transaminase Deficiency Disease	243	4
C1785148	RAPP-HODGKIN SYNDROME	234	32
C1851878	OROFACIAL CLEFT 8	382	2
C1851879	Cleft Lip with or without Cleft Palate, Nonsyndromic, 8	-1	1228
C1858562	ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3	358	5
C2608083	Cholestasis, benign recurrent intrahepatic 2	77	7
C3489789	Cholestasis, Progressive Familial Intrahepatic, 2	5	2
C4014516	DIARRHEA 7	38	2
C0270933	Inflammatory neuropathy	364	4
C3281044	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY	122	10
C3151062	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS	309	73
C0342544	Idiopathic central precocious puberty	309	73
C3151476	MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)	481	2
C3151446	NESTOR-GUILLERMO PROGERIA SYNDROME	705	2
C3808983	HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA	516	2
C1839728	METACARPAL 4-5 FUSION	205	2
C0795956	Chylomicron retention disease	675	3
C1970199	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5	403	6
C2675473	Mental Retardation, Autosomal Dominant 5	542	7
C0008521	Choroid Diseases	-1	1228
C0271093	Stargardt\'s disease	-1	1228
C0858618	Dyschromatopsia	-1	1228
C1855465	STARGARDT DISEASE 1 (disorder)	109	5
C1863534	Stargardt disease 4	115	2
C2675210	CONE-ROD DYSTROPHY 12 (disorder)	607	3
C2677516	RETINITIS PIGMENTOSA 41 (disorder)	0	3
C0012242	Digestive System Disorders	298	14
C0272302	Gray Platelet Syndrome	19	2
C1858496	Advanced Sleep-Phase Syndrome, Familial	-1	1228
C3807327	ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1	231	41
C3809824	PARKINSON DISEASE 20, EARLY-ONSET	702	4
C4479313	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53	-1	1228
C1833373	Inclusion Body Myopathy, Autosomal Recessive	156	8
C1862937	AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1	-1	1228
C4085251	PAGET DISEASE OF BONE 2, EARLY-ONSET	-1	1228
C4085252	PAGET DISEASE OF BONE 3	433	6
C4225326	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3	478	3
C4310693	NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET	-1	1228
C4310756	HYPERALDOSTERONISM, FAMILIAL, TYPE IV	573	2
C1849156	Spastic Ataxia	-1	1228
C4225205	SPINOCEREBELLAR ATAXIA 42	-1	1228
C1415817	HETEROTAXY, VISCERAL, 2, AUTOSOMAL	-1	1228
C1844020	HETEROTAXY, VISCERAL, 1, X-LINKED	437	8
C1876185	Dysgnathia complex	493	3
C3151057	HETEROTAXY, VISCERAL, 4, AUTOSOMAL	42	2
C3151867	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED	-1	1228
C3553676	HETEROTAXY, VISCERAL, 6, AUTOSOMAL	370	6
C2751683	Hirschsprung disease ganglioneuroblastoma	-1	1228
C0268474	Hydroxykynureninuria	357	2
C4540014	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2	137	9
C4310655	MYOPIA 25, AUTOSOMAL DOMINANT	234	32
C2676285	Bone Fragility with Contractures, Arterial Rupture, and Deafness	303	2
C1843355	ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS	174	2
C0271583	ACTH Deficiency, Isolated	-1	1228
C4014681	RETINITIS PIGMENTOSA 70	22	3
C1832378	Retinitis Pigmentosa 18	-1	1228
C0795910	COWCHOCK SYNDROME	477	4
C1845095	DEAFNESS, X-LINKED 5 (disorder)	-1	1228
C3151753	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	146	5
C1856113	Mowat-Wilson syndrome	523	3
C4479613	NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS	-1	1228
C1861306	Synostosis of Talus and Calcaneus with Short Stature	309	73
C1861385	SYMPHALANGISM, PROXIMAL	601	6
C1866656	STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)	-1	1228
C1969652	BRACHYDACTYLY, TYPE B2 (disorder)	393	2
C3714899	SYMPHALANGISM, PROXIMAL, 1A	156	8
C1847352	POLYMICROGYRIA, BILATERAL FRONTOPARIETAL	561	10
C3810405	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE	277	3
C1835854	DEAFNESS, AUTOSOMAL RECESSIVE 68	4	2
C2675858	Amelogenesis Imperfecta, Hypomaturation Type, Iia2	687	6
C3888088	SMITH-MCCORT DYSPLASIA 1	583	2
C4225177	SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1	359	6
C4310736	MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE	339	11
C1864652	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	460	4
C2675518	Adiponectin Deficiency	512	2
C0454651	Specific language impairment	-1	1228
C3280479	PITT-HOPKINS-LIKE SYNDROME 2	394	20
C0009714	Hepatic Fibrosis, Congenital	519	3
C0751602	Hereditary Autosomal Dominant Spastic Paraplegia	511	24
C1849115	SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)	584	3
C3151147	Bile Acid Synthesis Defect, Congenital, 3	-1	1228
C0432217	Wolcott-Rallison syndrome	356	13
C1863416	Autosomal dominant compelling helio ophthalmic outburst syndrome	435	6
C4539808	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25	239	35
C1855433	Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive	421	3
C2676243	Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	-1	1228
C4225305	LEUKODYSTROPHY, HYPOMYELINATING, 11	467	2
C0854739	Advanced sleep phase	-1	1228
C4015293	IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION	451	5
C1864997	Majeed syndrome	600	4
C4084842	JOUBERT SYNDROME 25	149	5
C0036069	Saldino-Noonan Syndrome	724	4
C0265275	Jeune thoracic dystrophy	232	6
C1849437	Mainzer-Saldino Disease	76	2
C4540439	RETINITIS PIGMENTOSA 80	437	8
C0796033	MARDEN-WALKER SYNDROME	169	5
C4015183	DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5	231	41
C4310747	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5	43	9
C4014738	MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2	-1	1228
C2678483	Long Qt Syndrome 11	-1	1228
C4310815	VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED	299	3
C1845543	Mental Retardation, X-Linked, with Epilepsy	-1	1228
C3806722	PARKINSONISM WITH SPASTICITY, X-LINKED	635	2
C1836672	Total Hypotrichosis, Mari type	234	32
C3279470	HYPOTRICHOSIS 8	241	2
C3502073	Woolly Hair, Autosomal Recessive	70	5
C0265245	Nager syndrome	-1	1228
C1837756	MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY	711	3
C4014261	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16	414	2
C0175695	Sotos\' syndrome	107	3
C4310684	SOTOS SYNDROME 3	429	3
C3279875	CORTICAL MALFORMATIONS, OCCIPITAL	-1	1228
C0271682	Mixed sensory-motor polyneuropathy	-1	1228
C1851102	Fibrosis Of Extraocular Muscles, Congenital, 1	148	4
C2748801	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	592	2
C2751105	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)	306	5
C3808397	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1	-1	1228
C4015552	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5	297	4
C1851943	DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)	231	41
C2676244	Leukodystrophy, Hypomyelinating, 6	669	2
C1832334	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	-1	1228
C1852750	Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation	288	3
C3151228	RETINITIS PIGMENTOSA 38 (disorder)	-1	1228
C4539828	BIRK-LANDAU-PEREZ SYNDROME	91	5
C4540389	JOUBERT SYNDROME 33	98	5
C1868594	Perry Syndrome	-1	1228
C4014414	MENTAL RETARDATION, AUTOSOMAL DOMINANT 24	231	41
C4310683	DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER	239	35
C1720862	Congenital Generalized Lipodystrophy Type 1	-1	1228
C2931276	Spastic paraplegia 17	720	6
C1833219	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)	-1	1228
C0155912	Pulmonary Alveolar Microlithiasis	31	5
C2931826	Potassium aggravated myotonia	628	5
C1838702	Retinitis Pigmentosa 13	-1	1228
C0220991	Rotor Syndrome	590	3
C3809686	MENTAL RETARDATION, AUTOSOMAL DOMINANT 21	-1	1228
C4310678	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA	-1	1228
C4310682	INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA	501	4
C3281288	PREECLAMPSIA/ECLAMPSIA 5	651	2
C4015388	MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2	-1	1228
C3151085	MASP2 Deficiency	93	5
C3714992	CANDIDIASIS, FAMILIAL, 8	273	40
C2675235	Deafness, Autosomal Recessive 1b	469	3
C2675237	Deafness, Autosomal Dominant 3B	485	2
C0268609	Glutamate formiminotransferase deficiency	70	5
C1837822	Burn-Mckeown syndrome	156	8
C4014347	PONTOCEREBELLAR HYPOPLASIA, TYPE 10	525	2
C3889475	BARDET-BIEDL SYNDROME 19	-1	1228
C4310723	MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE	526	11
C1853445	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	29	2
C2675227	Endocrine-Cerebroosteodysplasia	658	2
C0152200	Achromatopsia	-1	1228
C0302129	Achromatopsia 1	410	7
C4225297	ACHROMATOPSIA 7	199	5
C1291609	Ribose 5-Phosphate Isomerase Deficiency	667	3
C3539071	NEPHRONOPHTHISIS 14	-1	1228
C3553846	JOUBERT SYNDROME 19	276	13
C0042025	Urinary Stress Incontinence	129	6
C1838260	DIABETES MELLITUS, INSULIN-DEPENDENT, 5	-1	1228
C3554279	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2	495	2
C1849386	Myoglobinuria, Acute Recurrent, Autosomal Recessive	647	2
C2751805	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	139	4
C3150988	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12	-1	1228
C2676739	Chromosome 2q32-Q33 Deletion Syndrome	150	5
C0265215	Meckel-Gruber syndrome	141	8
C1857662	COACH syndrome	222	8
C1969052	MECKEL SYNDROME, TYPE 5	315	15
C1969053	JOUBERT SYNDROME 7	260	6
C1853116	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)	196	2
C2751807	Emery-Dreifuss Muscular Dystrophy 4	-1	1228
C3714753	RETINOSCHISIS 1, X-LINKED, JUVENILE	273	40
C4540004	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1	449	5
C4310765	HYPERMANGANESEMIA WITH DYSTONIA 2	-1	1228
C1853761	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1	460	4
C3554690	ATAXIA-OCULOMOTOR APRAXIA 3	305	7
C4310621	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12	62	3
C0025239	Melorheostosis	-1	1228
C0265514	Dermatofibrosis lenticularis disseminata	569	3
C1833699	Osteopoikilosis, Isolated	426	4
C3149399	DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED	501	4
C3149695	Melorheostosis with Osteopoikilosis	148	4
C3151113	MEIER-GORLIN SYNDROME 3	279	25
C3151402	CANDIDIASIS, FAMILIAL, 5	302	13
C3151434	RETINITIS PIGMENTOSA 60	238	4
C4225200	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29	698	7
C4225317	ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE	248	5
C3150674	CHROMOSOME 15q24 DELETION SYNDROME	417	12
C4014780	OROFACIODIGITAL SYNDROME XIV	234	32
C1843211	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT	404	4
C1860405	Snowflake vitreoretinal degeneration	517	5
C3280062	LEBER CONGENITAL AMAUROSIS 16	59	4
C0406727	Orofaciodigital syndrome 4	-1	1228
C3553758	JOUBERT SYNDROME 18	709	3
C0265218	Neu-Laxova syndrome	459	4
C1866174	Phosphoglycerate Dehydrogenase Deficiency	618	2
C3810359	RENAL HYPODYSPLASIA/APLASIA 2	646	4
C1833308	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	710	2
C4014700	ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	-1	1228
C0268525	5-oxoprolinase deficiency	301	15
C4479588	IMMUNODEFICIENCY 52	-1	1228
C3280155	MECKEL SYNDROME, TYPE 9	316	5
C4310706	JOUBERT SYNDROME 27	84	2
C3554607	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4	577	6
C1859567	BARDET-BIEDL SYNDROME 9	198	3
C1846145	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11	430	6
C4310650	3-METHYLGLUTACONIC ACIDURIA, TYPE VIII	-1	1228
C3809332	T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY	298	14
C4084840	FANCONI ANEMIA, COMPLEMENTATION GROUP T	476	7
C4225325	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	439	4
C3810138	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13	-1	1228
C1970253	Phosphoserine Aminotransferase Deficiency	-1	1228
C4015019	NEU-LAXOVA SYNDROME 2	365	2
C0157743	Vibratory urticaria	-1	1228
C0473546	Vibratory angioedema	302	13
C1852146	DERMODISTORTIVE URTICARIA	234	32
C2749861	MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)	-1	1228
C2751319	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5	-1	1228
C3150172	MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)	-1	1228
C3554687	IL21R IMMUNODEFICIENCY	-1	1228
C1855033	Mitochondrial myopathy with lactic acidosis	37	6
C3805375	ALBINISM, OCULOCUTANEOUS, TYPE VI	-1	1228
C0265267	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects	-1	1228
C0282102	Chondrodysplasia punctata, X-linked dominant type	-1	1228
C1844853	Brachytelephalangic Chondrodysplasia Punctata	-1	1228
C3151781	CK SYNDROME	510	4
C3553349	COENZYME Q10 DEFICIENCY, PRIMARY, 6	558	8
C4225188	MEIER-GORLIN SYNDROME 6	466	10
C1857587	Orstavik Lindemann Solberg syndrome	497	5
C3150127	BARDET-BIEDL SYNDROME 15	305	7
C3150983	TREACHER COLLINS SYNDROME 2	312	10
C0268151	Classical galactosemia	226	21
C4225318	EPILEPSY, FAMILIAL TEMPORAL LOBE, 8	297	4
C4310634	DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES	625	2
C1865872	NEPHRONOPHTHISIS 2	492	5
C3890591	NEPHRONOPHTHISIS 18	-1	1228
C1843256	IRAK4 Deficiency	171	3
C0376300	Dengue Shock Syndrome	157	2
C1842577	JOUBERT SYNDROME 2	-1	1228
C1864148	MECKEL SYNDROME, TYPE 2	262	3
C2676770	Birk-Barel Mental Retardation Dysmorphism Syndrome	36	2
C0032915	Preexcitation Syndrome	5	2
C0281788	Biventricular hypertrophy	69	3
C0559106	Ventricular preexcitation	415	2
C1833236	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	121	3
C1849813	Glycogen Storage Disease of Heart, Lethal Congenital	450	6
C3553607	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY	511	24
C1275078	Acrocephalopolysyndactyly type 2	307	14
C1291512	Beta-Ureidopropionase Deficiency	119	11
C4479410	MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY	-1	1228
C4225167	SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY	329	5
C2750798	Polymicrogyria With Optic Nerve Hypoplasia	-1	1228
C2676023	Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant	699	2
C0040560	Toxoplasmosis, Congenital	-1	1228
C4288963	Hepatitis C Virus Infection	-1	1228
C4310787	CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION	-1	1228
C2677608	Thrombocytopenia 4	461	3
C2675014	Mullerian Aplasia and Hyperandrogenism	159	7
C2678492	Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs	655	5
C4014993	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8	278	7
C1859305	Cerebellar Ataxia and Hypogonadotropic Hypogonadism	18	2
C4225421	LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3	-1	1228
C0010324	Crigler Najjar syndrome, type 1	601	6
C0270210	Lucey-Driscoll syndrome (disorder)	371	6
C2931132	Crigler Najjar syndrome, type 2	228	5
C1853286	Erythrocytosis, Familial, 3	-1	1228
C3714980	BARDET-BIEDL SYNDROME 17	717	4
C3808975	HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA	113	3
C1846265	Microphthalmia, syndromic 2	360	9
C0240595	Rotary Nystagmus	528	3
C2673873	BARDET-BIEDL SYNDROME 13	649	2
C4310705	JOUBERT SYNDROME 28	-1	1228
C1859565	BARDET-BIEDL SYNDROME 7	309	73
C1836861	FANCONI ANEMIA, COMPLEMENTATION GROUP I	244	9
C1865267	Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly	578	2
C2750442	Hypermanganesemia with Dystonia Polycythemia and Cirrhosis	141	8
C0221036	Acrodermatitis enteropathica	-1	1228
C1859301	Cerebellar hypoplasia with endosteal sclerosis	191	2
C3280644	LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	-1	1228
C0432198	Short rib-polydactyly syndrome, Beemer type	315	15
C0432235	Cranioectodermal Dysplasia	177	2
C0345407	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3	544	3
C1839736	WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME	344	3
C3550903	CORNELIA DE LANGE SYNDROME 5	107	3
C3280729	RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES	-1	1228
C3279948	DEAFNESS, AUTOSOMAL DOMINANT 64	-1	1228
C1857802	MORM syndrome	291	23
C1969657	Atrial Septal Defect 4	-1	1228
C1853136	Neutral Lipid Storage Disease with Myopathy	394	20
C2677589	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9	-1	1228
C3553354	COENZYME Q10 DEFICIENCY, PRIMARY, 2	-1	1228
C3553358	COENZYME Q10 DEFICIENCY, PRIMARY, 3	-1	1228
C3553374	COENZYME Q10 DEFICIENCY, PRIMARY, 5	694	12
C4225228	NEPHROTIC SYNDROME, TYPE 11	304	19
C1837355	Leukodystrophy, Hypomyelinating, 2	309	73
C2750784	SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder)	719	11
C3150732	LYMPHEDEMA, HEREDITARY, IC	-1	1228
C0751083	Duane Retraction Syndrome, Type 2	321	5
C0751084	Duane Retraction Syndrome, Type 3	144	10
C0994516	Type 1 Duane Retraction Syndrome	614	3
C1623209	Okihiro Syndrome	-1	1228
C4284592	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY	505	6
C3554496	LEFT VENTRICULAR NONCOMPACTION 7	306	5
C0432197	Short rib-polydactyly syndrome, Verma-Naumoff type	75	2
C3150874	CRANIOECTODERMAL DYSPLASIA 2	21	2
C3279792	SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY	651	2
C2676788	JOUBERT SYNDROME 9 (disorder)	-1	1228
C2676790	MECKEL SYNDROME, TYPE 6 (disorder)	-1	1228
C3280898	JOUBERT SYNDROME 9/15, DIGENIC	599	2
C1970005	Asphyxiating Thoracic Dystrophy 2	-1	1228
C0035920	Rubella	-1	1228
C1853396	Primary lateral sclerosis juvenile	511	24
C2931441	Hereditary spastic paralysis, infantile onset ascending	310	13
C3280598	SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY	354	10
C3280612	NEPHRONOPHTHISIS 13	528	3
C3280616	CRANIOECTODERMAL DYSPLASIA 4	291	23
C4225376	SENIOR-LOKEN SYNDROME 8	231	41
C0018609	Hartnup Disease	542	7
C3554654	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F	-1	1228
C4310694	MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC	-1	1228
C3809236	MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S	-1	1228
C4225234	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn	62	3
C2749759	Macrothrombocytopenia-Stomatocytosis, Mediterranean	301	15
C2750475	Focal Segmental Glomerulosclerosis 5	430	6
C3280845	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E	-1	1228
C1853278	Bleeding Disorder Due To P2RY12 Defect	309	73
C1853833	Parkinson Disease 6, Autosomal Recessive Early-Onset	74	5
C3553264	JOUBERT SYNDROME 17	-1	1228
C1561826	Overweight and obesity	41	2
C0032027	Pityriasis Rubra Pilaris	162	3
C1304140	Familial psoriasis	366	14
C1864497	PSORIASIS 2	494	2
C3553060	EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT	-1	1228
C3554235	JOUBERT SYNDROME 20	592	2
C3809352	MECKEL SYNDROME, TYPE 11	-1	1228
C3280031	JOUBERT SYNDROME 13	476	7
C1859568	BARDET-BIEDL SYNDROME 10	-1	1228
C3151185	SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY	473	2
C3151186	NEPHRONOPHTHISIS 12	-1	1228
C3279203	JOUBERT SYNDROME 11	526	11
C3836857	MECKEL SYNDROME, TYPE 8	417	12
C4084841	JOUBERT SYNDROME 24	254	3
C3809965	NEPHROTIC SYNDROME, TYPE 9	-1	1228
C1867774	Sacral Agenesis Syndrome	596	4
C4539937	JOUBERT SYNDROME 30	234	32
C0796093	Odontoonychodermal dysplasia	-1	1228
C1835492	TOOTH AGENESIS, SELECTIVE, 4 (disorder)	-1	1228
C1835493	Succedaneous Teeth, Agenesis Of	211	3
C1857069	SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	511	24
C2751259	Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	-1	1228
C3151120	MEIER-GORLIN SYNDROME 4	275	3
C1852271	Auditory neuropathy	19	2
C2732267	Auditory neuropathy spectrum disorder	666	4
C3150649	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM	7	3
C4479322	ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE	328	8
C0339534	Usher syndrome type 2	304	19
C1568247	Usher Syndrome, Type I	322	4
C1568249	Usher Syndrome, Type II	273	40
C1852577	FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder)	261	3
C1858493	FEBRILE CONVULSIONS, FAMILIAL, 4	432	3
C2676439	USHER SYNDROME, TYPE IIB, FORMERLY	530	2
C2931213	Usher syndrome, type 2C	339	11
C3148929	USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC	302	13
C4539714	MECKEL SYNDROME 13	-1	1228
C4539715	JOUBERT SYNDROME 29	74	5
C4539729	OROFACIODIGITAL SYNDROME XVI	-1	1228
C2675184	Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis	-1	1228
C4225324	CANDIDIASIS, FAMILIAL, 9	-1	1228
C4225289	EPILEPSY, PROGRESSIVE MYOCLONIC, 9	417	12
C3810324	MORBID OBESITY AND SPERMATOGENIC FAILURE	-1	1228
C1824925	DEAFNESS, AUTOSOMAL RECESSIVE 70	-1	1228
C3554129	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13	307	14
C1846357	Meckel syndrome type 3	-1	1228
C1853153	JOUBERT SYNDROME 6	20	2
C2673874	BARDET-BIEDL SYNDROME 14 (disorder)	309	73
C3150796	NEPHRONOPHTHISIS 11	425	2
C2676510	Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like	417	12
C2751084	Cardiomyopathy, Dilated, 1CC	644	4
C3151267	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20	226	21
C3151405	CANDIDIASIS, FAMILIAL, 6	-1	1228
C3279807	CRANIOECTODERMAL DYSPLASIA 3	122	10
C0018500	Hair Diseases	551	5
C4014616	HYPOTRICHOSIS 13	410	7
C1866294	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	312	10
C1835697	Keratitis Fugax Hereditaria	-1	1228
C1861303	SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)	380	2
C4225217	HETEROTAXY, VISCERAL, 7, AUTOSOMAL	-1	1228
C1838657	Vitamin D Hydroxylation-Deficient Rickets, Type 1B	221	4
C1846862	PARKINSON DISEASE 8 (disorder)	700	4
C1859566	BARDET-BIEDL SYNDROME 8	530	2
C3150715	RETINITIS PIGMENTOSA 51	-1	1228
C3554182	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15	279	25
C4225387	SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT	150	5
C4479618	ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2	-1	1228
C3550478	HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA	685	9
C3892039	BARDET-BIEDL SYNDROME 5	-1	1228
C0432268	Osteopathia striata cranial sclerosis	466	10
C2675186	LEBER CONGENITAL AMAUROSIS 13	309	73
C3150208	RETINITIS PIGMENTOSA 53	450	6
C1858351	SPINOCEREBELLAR ATAXIA 11	309	73
C4225378	SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	-1	1228
C4540355	JOUBERT SYNDROME 31	-1	1228
C3147083	DEAFNESS, AUTOSOMAL RECESSIVE 76	121	3
C4225338	MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE	-1	1228
C1859570	BARDET-BIEDL SYNDROME 12	305	7
C0002066	Alkaptonuria	504	2
C2676771	JOUBERT SYNDROME 8 (disorder)	579	6
C0473586	Michelin tire baby syndrome	-1	1228
C4014283	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6	53	3
C2750787	Weill-Marchesani-Like Syndrome	542	7
C3554349	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9	265	5
C4014762	MYOPIA 24, AUTOSOMAL DOMINANT	309	73
C0521694	Atrophic retina	681	3
C4014821	PORETTI-BOLTSHAUSER SYNDROME	454	3
C2676742	Premature Ovarian Failure 6	535	3
C4225210	OOCYTE MATURATION DEFECT 2	-1	1228
C0394006	Dysequilibrium syndrome	723	2
C2750247	Polymicrogyria, Asymmetric	141	8
C3552236	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7	356	13
C1856251	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I	628	5
C3489725	Pseudo-TORCH syndrome	273	40
C1864389	PREMATURE CHROMATID SEPARATION TRAIT	685	9