disease_id disease_name cluster cluster_items silhouette_sample C0000889 Acanthosis Nigricans -1 3026 -0.4860906846445745 C0001126 Renal tubular acidosis -1 3026 -0.48858741730866434 C0001144 Acne Vulgaris -1 3026 -0.6972083393190246 C0001175 Acquired Immunodeficiency Syndrome -1 3026 -0.47163557871840023 C0001202 Acrokeratosis -1 3026 -0.7060467701731493 C0001206 Acromegaly -1 3026 -0.47049119427924035 C0001308 Acute and subacute liver necrosis (disorder) -1 3026 -0.4371245754569203 C0001339 Acute pancreatitis -1 3026 -0.2754939531061968 C0001342 Acute periodontitis -1 3026 -0.6261889449730709 C0001403 Addison Disease -1 3026 -0.5440333633615066 C0001486 Adenovirus Infections -1 3026 -0.28824094971951997 C0001824 Agranulocytosis -1 3026 -0.49731581255235124 C0001857 AIDS related complex -1 3026 -0.46579423904775674 C0001883 Airway Obstruction -1 3026 -0.5314192355416462 C0002103 Atopic rhinitis -1 3026 -0.4224674557369852 C0002171 Alopecia Areata -1 3026 -0.3616003988892761 C0002312 alpha-Thalassemia -1 3026 -0.9007598155027008 C0002382 Alveolar Bone Loss -1 3026 -0.6538317746266578 C0002418 Amblyopia -1 3026 -0.22958985471287863 C0002453 Amenorrhea -1 3026 -0.43881310874845064 C0002726 Amyloidosis -1 3026 -0.45991721623345627 C0002768 Congenital Pain Insensitivity -1 3026 -0.687089266153721 C0002792 anaphylaxis -1 3026 -0.49921322521018646 C0002871 Anemia -1 3026 -0.28779292162505105 C0002893 Refractory anemias -1 3026 -0.6618008408409093 C0002895 Anemia, Sickle Cell -1 3026 -0.5995191688788063 C0002896 Sideroblastic anemia -1 3026 -0.49750188503249737 C0002982 Angioid Streaks -1 3026 -0.5647195315017239 C0003028 Anhidrosis -1 3026 -0.4948956080032903 C0003089 Ankylosing spondylitis and other inflammatory spondylopathies -1 3026 1.0341693726934054e-06 C0003123 Anorexia -1 3026 -0.27627318203928447 C0003128 Anovulation -1 3026 -0.03165914271208171 C0003165 Anthracosis -1 3026 -0.5886549246238653 C0003460 Anuria -1 3026 -0.5883928308323373 C0003486 Aortic Aneurysm -1 3026 -0.42483112179836846 C0003493 Aortic Diseases -1 3026 -0.48652087236631486 C0003504 Aortic Valve Insufficiency -1 3026 -0.36883867058952047 C0003723 Arbovirus Infections -1 3026 -0.10303698930249071 C0003742 Arcus Senilis -1 3026 -0.4930321302002063 C0003838 Arterial Occlusive Diseases -1 3026 -0.614277645194564 C0003872 Arthritis, Psoriatic -1 3026 -0.39308258820066194 C0003873 Rheumatoid Arthritis -1 3026 -0.2743195259575709 C0003886 Arthrogryposis -1 3026 -0.21130063110389422 C0004031 Aspergillosis, Allergic Bronchopulmonary -1 3026 -0.672632141026356 C0004045 Asphyxia Neonatorum -1 3026 -0.42872939048911524 C0004096 Asthma -1 3026 -0.2943284601861954 C0004106 Astigmatism -1 3026 -0.1866428744625969 C0004364 Autoimmune Diseases -1 3026 -0.30779832054846085 C0004606 Nonproliferative diabetic retinopathy -1 3026 -0.6584340650643986 C0004610 Bacteremia -1 3026 -0.5082882054507629 C0004623 Bacterial Infections -1 3026 -0.5659808825183206 C0004626 Pneumonia, Bacterial -1 3026 -0.33899511471325794 C0004903 Beckwith-Wiedemann Syndrome -1 3026 -0.5565049788219326 C0005398 Cholestasis, Extrahepatic -1 3026 -0.35348479667679045 C0005403 Bile Reflux -1 3026 -0.39266789803062757 C0005424 Biliary Tract Diseases -1 3026 -0.4447483072441877 C0005689 Bladder Exstrophy -1 3026 -0.8186690319587089 C0005694 Bladder neck obstruction -1 3026 -0.2763027068387297 C0005742 Blepharochalasis -1 3026 -0.706990172772244 C0005745 Blepharoptosis -1 3026 -0.25442859228169257 C0005779 Blood Coagulation Disorders -1 3026 -0.4380608567674549 C0005818 Blood Platelet Disorders -1 3026 -0.18104673692696208 C0005859 Bloom Syndrome -1 3026 -0.1317194825451768 C0005866 Bluetongue infection -1 3026 -0.4634445203548091 C0005940 Bone Diseases -1 3026 -0.3053769995943579 C0005941 Bone Diseases, Developmental -1 3026 -0.18792819919377898 C0005942 Bone Diseases, Endocrine -1 3026 -0.486952240445824 C0005956 Bone Marrow Diseases -1 3026 -0.35610068607219114 C0006023 Borna Disease -1 3026 -0.2845734619178874 C0006145 Breast Diseases -1 3026 -0.9732161195790606 C0006261 Bronchial Diseases -1 3026 -0.3373500503214927 C0006267 Bronchiectasis -1 3026 -0.37115141896828985 C0006272 Bronchiolitis Obliterans -1 3026 -0.4705292700867799 C0006287 Bronchopulmonary Dysplasia -1 3026 -0.4257313933625406 C0006309 Brucellosis -1 3026 -0.7918678529204188 C0006384 Bundle-Branch Block -1 3026 -0.4107655956549287 C0006430 Burning Mouth Syndrome -1 3026 -0.671692076476409 C0006840 Candidiasis -1 3026 -0.9747823542621658 C0006846 Cutaneous Candidiasis -1 3026 -0.2465400928414157 C0007001 Carbohydrate Metabolism, Inborn Errors -1 3026 0.00013495811255015422 C0007192 Cardiomyopathy, Alcoholic -1 3026 -0.5226431103369704 C0007282 Carotid Stenosis -1 3026 -0.5367799788936048 C0007384 Cataplexy -1 3026 -0.7658094479310099 C0007570 Celiac Disease -1 3026 -0.24659412883770235 C0007682 CNS disorder -1 3026 -0.4970740561299901 C0007760 Cerebellar Diseases -1 3026 -0.39196076544237674 C0007766 Intracranial Aneurysm -1 3026 -0.3451897295036706 C0007789 Cerebral Palsy -1 3026 -0.4964143499384738 C0007820 Cerebrovascular Disorders -1 3026 -0.1741581826298552 C0007867 Cervix Diseases -1 3026 -0.6710323820453974 C0007868 Cervical dysplasia -1 3026 -0.7422845735546294 C0007932 Chagas\' disease without mention of organ involvement -1 3026 -0.44383417023206706 C0007959 Charcot-Marie-Tooth Disease -1 3026 -0.5288578947404077 C0008055 Chikungunya Fever -1 3026 -0.27609694991588324 C0008311 Cholangitis -1 3026 -0.4533104636572426 C0008325 Cholecystitis -1 3026 -0.6699220778815375 C0008354 Cholera -1 3026 -0.46532912913546237 C0008372 Intrahepatic Cholestasis -1 3026 -0.5476924484407067 C0008412 Choline Deficiency -1 3026 -0.5577323962100607 C0008449 Congenital anomaly of cartilage -1 3026 -0.5768824658596914 C0008521 Choroid Diseases -1 3026 -0.6380880405115511 C0008677 Bronchitis, Chronic -1 3026 -0.46104914636710753 C0008707 Chronic osteomyelitis -1 3026 -0.4996313896497958 C0008711 Chronic rhinitis -1 3026 -0.4755098526550853 C0009197 Cochlear Diseases -1 3026 -0.6394462267123673 C0009319 Colitis -1 3026 -0.35097312794039515 C0009373 Colonic Diseases -1 3026 -0.13487512872157767 C0009374 Colonic Diseases, Functional -1 3026 -0.014934609810983029 C0009398 Color vision defect -1 3026 -0.7012464209585118 C0009421 Comatose -1 3026 -0.36888394584084827 C0009492 Compartment syndromes -1 3026 -0.09387973846685298 C0009663 Condylomata Acuminata -1 3026 -0.6764930476399119 C0009759 Conjunctival Diseases -1 3026 -0.08502288592892475 C0009763 Conjunctivitis -1 3026 -0.4165969745654195 C0009766 Allergic Conjunctivitis -1 3026 -0.43620659671460327 C0010034 Corneal Diseases -1 3026 -0.5006234164956588 C0010036 Corneal dystrophy -1 3026 -0.40383250018360706 C0010051 Coronary Aneurysm -1 3026 -0.5125761082804674 C0010072 Coronary Thrombosis -1 3026 -0.5852193822430406 C0010073 Coronary Artery Vasospasm -1 3026 -0.5821758593545545 C0010314 Cri-du-Chat Syndrome -1 3026 -0.5824669785206736 C0010414 Infection by Cryptococcus neoformans -1 3026 9.608246741010795e-05 C0010418 Cryptosporidiosis -1 3026 -0.8177017266582465 C0010481 Cushing Syndrome -1 3026 -0.4533254177245546 C0010692 Cystitis -1 3026 -0.2566889466786278 C0010964 Dandy-Walker Syndrome -1 3026 -0.34664206177171386 C0011127 Pressure Ulcer -1 3026 -0.48147025881874317 C0011168 Deglutition Disorders -1 3026 -0.39165756531303464 C0011175 Dehydration -1 3026 -0.3874904376004376 C0011226 Hepatitis D Infection -1 3026 -0.4572883398252305 C0011311 Dengue Fever -1 3026 -0.26502296653322693 C0011334 Dental caries -1 3026 -0.2756224800589818 C0011351 Dental Enamel Hypoplasia -1 3026 -0.29140969761484414 C0011430 Dentin Dysplasia -1 3026 -0.4160387847777456 C0011603 Dermatitis -1 3026 -0.25597814168811434 C0011606 Exfoliative dermatitis -1 3026 -0.3651036832221111 C0011608 Dermatitis Herpetiformis -1 3026 -0.45931942779240487 C0011616 Contact Dermatitis -1 3026 -0.1505198474801142 C0011880 Diabetic Ketoacidosis -1 3026 -0.9497731100932546 C0011884 Diabetic Retinopathy -1 3026 -0.2996057900634541 C0012242 Digestive System Disorders -1 3026 -0.11438695461052574 C0012546 Diphtheria -1 3026 -0.28645372391630586 C0012739 Disseminated Intravascular Coagulation -1 3026 -0.434759892556116 C0013238 Dry Eye Syndromes -1 3026 -0.45520216951483705 C0013298 Duodenitis -1 3026 -0.14772727347049647 C0013312 Dupuytren Contracture -1 3026 -0.31522123618304276 C0013338 Pituitary dwarfism -1 3026 -0.680070615572144 C0013364 Dysautonomia, Familial -1 3026 -0.5708556583656162 C0013371 Shigella Infections -1 3026 -0.5120209648686247 C0013393 Dysostoses -1 3026 -0.8306672939586832 C0013502 Echinococcosis -1 3026 -0.574229315149131 C0013537 Eclampsia -1 3026 -0.5267717453067016 C0013592 Ectropion -1 3026 -0.4065094202378051 C0013595 Eczema -1 3026 -0.41348914128547976 C0013720 Ehlers-Danlos Syndrome -1 3026 -0.32631110059098156 C0013884 Filarial Elephantiases -1 3026 -0.5743959593994028 C0013902 Elliptocytosis, Hereditary -1 3026 -0.5549522493688722 C0014038 Encephalitis -1 3026 -0.2888779990665641 C0014060 Encephalitis, St. Louis -1 3026 -0.5249768627197796 C0014061 Tick-Borne Encephalitis -1 3026 -0.49764119369447485 C0014070 Encephalomyelitis -1 3026 -0.33271858539934485 C0014117 Endocardial Fibroelastosis -1 3026 -0.4632749873554256 C0014118 Endocarditis -1 3026 -0.7246444573938657 C0014121 Bacterial Endocarditis -1 3026 -0.8509942946410297 C0014130 Endocrine System Diseases -1 3026 -0.5917174123127058 C0014175 Endometriosis -1 3026 -0.13539389481320763 C0014236 Endophthalmitis -1 3026 -0.6096181729590614 C0014306 Enophthalmos -1 3026 -0.1431906359637402 C0014390 Entropion -1 3026 -0.45925973286560334 C0014583 Episcleritis -1 3026 -0.49888895144321305 C0014599 Epithelial hyperplasia -1 3026 -0.8926330577534906 C0014743 Erythema Nodosum -1 3026 -0.5841669349050336 C0014866 Esophageal Stenosis -1 3026 -0.5336257262490777 C0014868 Esophagitis -1 3026 -0.4416160022116625 C0014869 Peptic Esophagitis -1 3026 -0.4439297962816336 C0014877 Esotropia -1 3026 -0.3153284609211931 C0015300 Exophthalmos -1 3026 -0.18121597394381125 C0015310 Exotropia -1 3026 -0.4565086916184737 C0015397 Disorder of eye -1 3026 -0.4144669124233895 C0015398 Eye Diseases, Hereditary -1 3026 -0.4075458728004219 C0015404 Eye Infections, Bacterial -1 3026 -0.7059077679154314 C0015423 Eyelid Diseases -1 3026 -0.6938197013357562 C0015523 Hereditary Factor XI Deficiency -1 3026 -0.09798596605551047 C0015530 Hereditary Factor XIII Deficiency -1 3026 -0.03249463280337827 C0015645 Fasciitis -1 3026 -0.7058790209029473 C0015674 Chronic Fatigue Syndrome -1 3026 -0.5207257210329262 C0015732 Fecal Incontinence -1 3026 -0.42686375871599536 C0016034 Breast Fibrocystic Disease -1 3026 -0.4979460766027375 C0016085 Filariasis -1 3026 -0.547839571485822 C0016395 Focal Dermal Hypoplasia -1 3026 -0.12365845114391204 C0016514 Foot-and-Mouth Disease -1 3026 0.0 C0016629 Fowlpox -1 3026 -0.37646524155998345 C0016751 Hereditary fructose intolerance syndrome -1 3026 -0.0864528092498254 C0016781 Fuchs Endothelial Dystrophy -1 3026 -0.6068552322754234 C0017083 Gangliosidoses -1 3026 -0.735573130964873 C0017152 Gastritis -1 3026 -0.47145232973104184 C0017154 Gastritis, Atrophic -1 3026 -0.6715264869106825 C0017160 Gastroenteritis -1 3026 -0.06343291845716892 C0017162 Gastroenteritis, Transmissible, of Swine -1 3026 -0.317616095074689 C0017168 Gastroesophageal reflux disease -1 3026 -0.2648294554322949 C0017547 Gigantism -1 3026 -0.49708661199105497 C0017551 Gilbert Disease (disorder) -1 3026 -0.8660438110990395 C0017572 Gingival Recession -1 3026 -0.5694325317280698 C0017601 Glaucoma -1 3026 -0.3021188823867926 C0017661 IGA Glomerulonephritis -1 3026 -0.22334082260246318 C0017662 Glomerulonephritis, Membranoproliferative -1 3026 -0.6862775685223049 C0017675 Glossitis -1 3026 -0.5609385050772443 C0017924 Glycogen Storage Disease Type V -1 3026 -0.28335160693741374 C0017925 Glycogen Storage Disease Type VI -1 3026 -0.024765578517079147 C0017926 Glycogen Storage Disease Type VII -1 3026 -0.16085849957166448 C0018023 Nodular Goiter -1 3026 -0.5487684409708902 C0018099 Gout -1 3026 -0.34576176506051115 C0018133 Graft-vs-Host Disease -1 3026 -0.5915946570636044 C0018213 Graves Disease -1 3026 -0.3427412709446058 C0018378 Guillain-Barre Syndrome -1 3026 -0.6994960285884305 C0018418 Gynecomastia -1 3026 -0.5082364818201164 C0018500 Hair Diseases -1 3026 -0.5757375484098508 C0018609 Hartnup Disease -1 3026 -0.41220986171517265 C0018614 Hashish Abuse -1 3026 -0.3157599781117609 C0018621 Hay fever -1 3026 -0.20563471325419616 C0018777 Conductive hearing loss -1 3026 -0.42761952031638384 C0018790 Cardiac Arrest -1 3026 -0.59577904399596 C0018794 Heart Block -1 3026 -0.4908871324288718 C0018799 Heart Diseases -1 3026 -0.25769709771481497 C0018889 Helminthiasis -1 3026 -0.6564801375043028 C0018939 Hematological Disease -1 3026 -0.31606965918735036 C0018965 Hematuria -1 3026 -0.4033108066590374 C0019034 Hemoglobin SC Disease -1 3026 -0.748287971176865 C0019061 Hemolytic-Uremic Syndrome -1 3026 -0.5982270222529346 C0019087 Hemorrhagic Disorders -1 3026 -0.38337415682611947 C0019101 Hemorrhagic Fever with Renal Syndrome -1 3026 -0.7911319291689335 C0019104 Hemorrhagic Fevers, Viral -1 3026 -0.27699642889345316 C0019156 Hepatic Veno-Occlusive Disease -1 3026 -0.5356737336542876 C0019158 Hepatitis -1 3026 -0.2710634141292986 C0019159 Hepatitis A -1 3026 -0.3198511954393775 C0019163 Hepatitis B -1 3026 -0.19699358987426469 C0019188 Hepatitis, Animal -1 3026 -0.3986625206624869 C0019196 Hepatitis C -1 3026 -0.2789281891703638 C0019212 Hepatorenal Syndrome -1 3026 -0.5706654276410954 C0019322 Umbilical hernia -1 3026 -0.2058720924159949 C0019340 Herpes NOS -1 3026 -0.4624072229569871 C0019348 Herpes Simplex Infections -1 3026 -0.27171765589045743 C0019360 Herpes zoster disease -1 3026 -0.6994170948285372 C0019816 Hereditary, Type VII, Motor and Sensory Neuropathy -1 3026 -0.7996058749442809 C0019911 Hookworm Infections -1 3026 -0.09920027488132478 C0019937 Horner Syndrome -1 3026 -0.22356331672170104 C0020071 Hereditary Sensory Autonomic Neuropathy, Type 1 -1 3026 -0.598870827669074 C0020255 Hydrocephalus -1 3026 -0.3439754993724356 C0020258 Hydrocephalus, Normal Pressure -1 3026 -0.6944082402582186 C0020295 Hydronephrosis -1 3026 -0.2888936261019143 C0020305 Hydrops Fetalis -1 3026 -0.3462393290823003 C0020438 Hypercalciuria -1 3026 -0.5738397672242885 C0020443 Hypercholesterolemia -1 3026 -0.5046898381086352 C0020452 Hyperemia -1 3026 -0.2782319162895664 C0020455 Hypergammaglobulinemia -1 3026 -0.6690131497028042 C0020456 Hyperglycemia -1 3026 -0.35416415069401863 C0020474 Hyperlipidemia, Familial Combined -1 3026 -0.6429502239683349 C0020480 Hyperlipoproteinemia Type IV -1 3026 -0.4960228126989309 C0020490 Hyperopia -1 3026 -0.3092382645750253 C0020492 Hyperostosis -1 3026 -0.5618228098431437 C0020502 Hyperparathyroidism -1 3026 -0.6480670521230434 C0020503 Hyperparathyroidism, Secondary -1 3026 -0.41566416714764526 C0020538 Hypertensive disease -1 3026 -0.4267222500930476 C0020540 Malignant Hypertension -1 3026 -0.6501563949852363 C0020544 Renal hypertension -1 3026 -0.4967283509015274 C0020545 Hypertension, Renovascular -1 3026 -0.2643083953945174 C0020551 Hyperthyroxinemia -1 3026 -0.27866158157470666 C0020555 Hypertrichosis -1 3026 -0.5649441976853542 C0020557 Hypertriglyceridemia -1 3026 -0.3386044915645971 C0020597 Hypobetalipoproteinemias -1 3026 -0.5670271598217511 C0020598 Hypocalcemia -1 3026 -0.5305265527935954 C0020599 Hypocalciuria -1 3026 -0.46028880819950274 C0020619 Hypogonadism -1 3026 -0.5867144348997687 C0020620 Hypohidrosis -1 3026 -0.2716878214846456 C0020625 Hyponatremia -1 3026 -0.46471853662695134 C0020626 Hypoparathyroidism -1 3026 -0.6591274430382397 C0020639 Hypoproteinemia -1 3026 -0.40017861084808476 C0020651 Hypotension, Orthostatic -1 3026 -0.4151284576952218 C0020676 Hypothyroidism -1 3026 -0.2916305806822339 C0020877 Ileitis -1 3026 -0.5349391305768323 C0020951 Immune Complex Diseases -1 3026 -0.5740151640809326 C0021053 Immune System Diseases -1 3026 -0.28357903924633665 C0021290 Neonatal disorder -1 3026 -0.676117336941412 C0021296 Infant, Small for Gestational Age -1 3026 -0.14324232398286554 C0021364 Male infertility -1 3026 -0.19822569727436873 C0021400 Influenza -1 3026 -0.16986105999190643 C0021775 Intermittent Claudication -1 3026 -0.31405312310392297 C0021828 Intestinal Atresia -1 3026 -0.6441816400271854 C0022104 Irritable Bowel Syndrome -1 3026 -0.4919870265518526 C0022353 Neonatal Jaundice -1 3026 -0.42333730409375453 C0022354 Jaundice, Obstructive -1 3026 -0.46619727470743966 C0022541 Kearns-Sayre syndrome -1 3026 -0.5500230703364755 C0022568 Keratitis -1 3026 -0.5221960416340566 C0022596 Palmoplantar Keratosis -1 3026 -0.30641753591240395 C0022650 Kidney Calculi -1 3026 -0.39482234829422574 C0022658 Kidney Diseases -1 3026 -0.25666053578293574 C0022672 Acute Kidney Tubular Necrosis -1 3026 -0.3775586844557579 C0022735 Klinefelter Syndrome -1 3026 -0.4414640581083283 C0022739 Klippel-Trenaunay-Weber Syndrome -1 3026 -0.3229749405031401 C0023051 Laryngeal Diseases -1 3026 -0.8016697631538006 C0023066 Laryngismus -1 3026 -0.5172779890004299 C0023075 Laryngostenosis -1 3026 -0.4370789921783565 C0023211 Left Bundle-Branch Block -1 3026 -0.6686910656296476 C0023264 Leigh Disease -1 3026 -0.8165151780943594 C0023281 Leishmaniasis -1 3026 -0.5265503194241762 C0023290 Leishmaniasis, Visceral -1 3026 -0.5276226450511983 C0023321 Lentigo -1 3026 -0.7383967447062736 C0023343 Leprosy -1 3026 -0.3045956228496163 C0023520 Leukodystrophy -1 3026 -0.22740244025849202 C0023524 Leukoencephalopathy, Progressive Multifocal -1 3026 -0.42559419133266085 C0023529 Leukomalacia, Periventricular -1 3026 -0.5439443494453144 C0023530 Leukopenia -1 3026 -0.33780503049627514 C0023646 Lichen Planus -1 3026 -0.6966019309705015 C0023772 Lipid Metabolism, Inborn Errors -1 3026 -0.4075978123721843 C0023794 Lipoidosis -1 3026 -0.21953307496573557 C0023795 Lipoid Proteinosis of Urbach and Wiethe -1 3026 -0.11608773144119765 C0023801 Lipomatosis -1 3026 -0.6600150417884536 C0023860 Listeriosis -1 3026 -0.6531640687472658 C0023882 Little\'s Disease -1 3026 -0.5540058724568181 C0023891 Liver Cirrhosis, Alcoholic -1 3026 -0.2197119821111522 C0023895 Liver diseases -1 3026 -0.20353527966568458 C0023896 Alcoholic Liver Diseases -1 3026 -0.34597270923787354 C0023897 Liver Diseases, Parasitic -1 3026 -0.330607523626817 C0024003 Lordosis -1 3026 -0.24933871120356266 C0024115 Lung diseases -1 3026 -0.25555001475366346 C0024137 Lupus Erythematosus, Cutaneous -1 3026 -0.6661145253843723 C0024143 Lupus Nephritis -1 3026 -0.4678801981386882 C0024145 Chilblain lupus 1 -1 3026 -0.6925553943240202 C0024198 Lyme Disease -1 3026 -0.5302359944647375 C0024228 Lymphatic Diseases -1 3026 -0.35665301754755946 C0024312 Lymphopenia -1 3026 -0.26087079357670395 C0024421 Macroglossia -1 3026 -0.2509302101774578 C0024437 Macular degeneration -1 3026 -0.46574029305750236 C0024530 Malaria -1 3026 -0.2415995904282384 C0024534 Malaria, Cerebral -1 3026 -0.6594583857092372 C0024535 Malaria, Falciparum -1 3026 -0.573029613609839 C0024537 Malaria, Vivax -1 3026 -0.5679395785882299 C0024689 Mandibular Diseases -1 3026 -0.6943649976785539 C0024796 Marfan Syndrome -1 3026 -0.5009403913779671 C0024894 Mastitis -1 3026 -0.5460842954598254 C0025007 Measles -1 3026 -0.255734099168177 C0025048 Meconium Aspiration Syndrome -1 3026 -0.5098295108148789 C0025164 Megaesophagus -1 3026 -0.7102880266736622 C0025229 Melioidosis -1 3026 -0.6570090435566462 C0025290 Aseptic Meningitis -1 3026 -0.7002434600774731 C0025295 Meningitis, Pneumococcal -1 3026 -0.5137354315659426 C0025297 Viral meningitis -1 3026 -0.6451080318781806 C0025299 Meningocele -1 3026 -0.49914461905750035 C0025303 Meningococcal Infections -1 3026 -0.4541367001662584 C0025322 Premature Menopause -1 3026 -0.3004218924976298 C0025472 Mesenteric Vascular Occlusion -1 3026 -0.6118115028771726 C0025517 Metabolic Diseases -1 3026 -0.3611710420472663 C0025521 Inborn Errors of Metabolism -1 3026 -0.24882015463630636 C0026205 Miosis disorder -1 3026 -0.3248943716966552 C0026269 Mitral Valve Stenosis -1 3026 -0.3633829762676963 C0026272 Mixed Connective Tissue Disease -1 3026 -0.07464972582099033 C0026603 Motion Sickness -1 3026 -0.1922875573393588 C0026636 Mouth Diseases -1 3026 -0.27669577081882507 C0026709 Mucopolysaccharidosis VI -1 3026 -0.12246931870978399 C0026847 Spinal Muscular Atrophy -1 3026 -0.7956932133737376 C0026848 Myopathy -1 3026 -0.2285542149555373 C0026850 Muscular Dystrophy -1 3026 -0.6820128865980412 C0026851 Muscular Dystrophy, Animal -1 3026 -0.7063209277764846 C0026857 Musculoskeletal Diseases -1 3026 2.9945130869402092e-06 C0026884 Mutism -1 3026 -0.2901866067545384 C0026946 Mycoses -1 3026 -0.5392985301524457 C0026975 Myelitis -1 3026 -0.4718874116220976 C0027051 Myocardial Infarction -1 3026 -0.38019257654039385 C0027073 Myofascial Pain Syndromes -1 3026 -0.8117905183884847 C0027092 Myopia -1 3026 -0.23357233019691015 C0027339 Nail Diseases -1 3026 -0.2905214667378763 C0027697 Nephritis -1 3026 -0.2799742063780985 C0027709 Nephrocalcinosis -1 3026 -0.3667596519360817 C0027719 Nephrosclerosis -1 3026 -0.47567034214723464 C0027720 Nephrosis -1 3026 -0.2921496166872016 C0027721 Lipoid nephrosis -1 3026 -0.5850343532831653 C0027726 Nephrotic Syndrome -1 3026 -0.3640525465805331 C0027765 nervous system disorder -1 3026 -0.1811553410291057 C0027813 Neuritis -1 3026 -0.5769111610027198 C0027947 Neutropenia -1 3026 -0.3169574032325357 C0028738 Nystagmus -1 3026 -0.3634913232299382 C0028754 Obesity -1 3026 -0.3398254233716077 C0028756 Obesity, Morbid -1 3026 -0.41846357401538364 C0028797 Occupational Diseases -1 3026 -0.29842044073162577 C0028840 Ocular Hypertension -1 3026 -0.32756976207238064 C0028866 Oculomotor Nerve Paralysis -1 3026 -0.5301362859111672 C0028960 Oligospermia -1 3026 -0.3606033228419186 C0028961 Oliguria -1 3026 -0.4666899929435872 C0028968 Olivopontocerebellar Atrophies -1 3026 -0.3841836802784464 C0029001 Onchocerciasis -1 3026 -0.6928627261766446 C0029002 Onchocerciasis, Ocular -1 3026 2.9945130869402092e-06 C0029124 Optic Atrophy -1 3026 -0.35128013433147104 C0029172 Oral Submucous Fibrosis -1 3026 -0.3399693079931637 C0029401 Osteitis Deformans -1 3026 -0.5303119577342651 C0029434 Osteogenesis Imperfecta -1 3026 -0.3508539464686341 C0029454 Osteopetrosis -1 3026 -0.6261656620603253 C0029458 Osteoporosis, Postmenopausal -1 3026 -0.5267533140389071 C0029464 Osteosclerosis -1 3026 -0.5519353630604319 C0029531 Other cataract -1 3026 -0.20727435750064907 C0029591 Other disorders of lipoid metabolism -1 3026 -0.12623470095571462 C0029607 Other emphysema -1 3026 -0.3508931692268938 C0029771 Other specified diseases of pancreas -1 3026 -0.0413705682204656 C0029799 Other specified forms of pleural effusion, except tuberculous -1 3026 -0.25033984407884574 C0029806 Other specified infantile cerebral palsy -1 3026 -0.28757697903574664 C0029810 Other specified iron deficiency anemias -1 3026 -0.28895340256597796 C0029823 Other specified peritonitis -1 3026 -0.3477112470881541 C0029827 Other specified schistosomiasis -1 3026 -0.049415414399847535 C0029882 Otitis Media -1 3026 -0.29612892065232826 C0029899 Otosclerosis -1 3026 -0.7788556267838666 C0029928 Ovarian Diseases -1 3026 -0.6515296183562352 C0030286 Pancreatic Diseases -1 3026 -0.3806768405026702 C0030299 Pancreatic Pseudocyst -1 3026 -0.6895239412316156 C0030305 Pancreatitis -1 3026 -0.38421446314233826 C0030312 Pancytopenia -1 3026 -0.34931648242196106 C0030353 Papilledema -1 3026 -0.35068049838677773 C0030436 Parakeratosis -1 3026 -0.3501880736430415 C0030524 Paratuberculosis -1 3026 -0.406002701848328 C0030552 Paresis -1 3026 -0.5881701531287579 C0030554 Paresthesia -1 3026 -0.4843324052223432 C0030567 Parkinson Disease -1 3026 -0.43617675216749047 C0030578 Paronychia Inflammation -1 3026 -0.5458009704178503 C0030781 Peliosis Hepatis -1 3026 -0.055555360958103095 C0030805 Bullous pemphigoid -1 3026 -0.559760806914025 C0030846 Penile Diseases -1 3026 -0.5577846832735194 C0031019 Perianal abscess -1 3026 -0.577011131382941 C0031036 Polyarteritis Nodosa -1 3026 -0.6854752824165175 C0031051 Pericementitis -1 3026 -0.5257449355456002 C0031099 Periodontitis -1 3026 -0.39379766501347563 C0031117 Peripheral Neuropathy -1 3026 -0.17852630299654867 C0031256 Petechiae -1 3026 -0.3176506653374843 C0031736 Polymorphous light eruption -1 3026 -0.5780130560598333 C0032051 Placental Insufficiency -1 3026 -0.3294852207800089 C0032226 Pleural Diseases -1 3026 -0.3310375493093367 C0032227 Pleural effusion disorder -1 3026 -0.6670926416205833 C0032231 Pleurisy -1 3026 -0.6127049884210742 C0032290 Aspiration Pneumonia -1 3026 -0.4359272620977417 C0032310 Pneumonia, Viral -1 3026 -0.6540835738263968 C0032708 Disorders of Porphyrin Metabolism -1 3026 -0.17264912806947344 C0032963 Pregnancy Complications, Cardiovascular -1 3026 -0.5891188296485652 C0033036 Atrial Premature Complexes -1 3026 -0.4121911198766816 C0033117 Priapism -1 3026 -0.4248004031849258 C0033581 prostatitis -1 3026 -0.6292862306656163 C0033790 Pseudobulbar Palsy -1 3026 -0.4985896947061285 C0034013 Precocious Puberty -1 3026 -0.469507108652029 C0034050 Pulmonary Alveolar Proteinosis -1 3026 -0.5156484673469321 C0034063 Pulmonary Edema -1 3026 -0.4413441974163256 C0034072 Cor pulmonale -1 3026 -0.5760792852490743 C0034103 Pulpitis -1 3026 -0.5652297000092034 C0034150 Purpura -1 3026 -0.5489670677579748 C0034212 Pyoderma -1 3026 -0.5079211710300716 C0034219 Alveolar pyorrhea -1 3026 -0.7066561024267237 C0034372 Quadriplegia -1 3026 -0.6078613142007401 C0034494 Rabies (disorder) -1 3026 -0.44908116558804717 C0035012 Reiter Syndrome -1 3026 -0.439911261979168 C0035021 Relapsing Fever -1 3026 -0.8920184709969396 C0035067 Renal Artery Stenosis -1 3026 -0.6758783546654992 C0035112 Reoviridae Infections -1 3026 -0.3945243729545937 C0035204 Respiration Disorders -1 3026 -0.5663870323416826 C0035222 Respiratory Distress Syndrome, Adult -1 3026 -0.19636980867521367 C0035235 Respiratory Syncytial Virus Infections -1 3026 -0.398471539756849 C0035242 Respiratory Tract Diseases -1 3026 -0.5726776793041379 C0035258 Restless Legs Syndrome -1 3026 -0.27004404355740763 C0035309 Retinal Diseases -1 3026 -0.20498520049152597 C0035369 Retroviridae Infections -1 3026 -0.3773558975907389 C0035400 Reye Syndrome -1 3026 -0.1568444339127114 C0035435 Rheumatism -1 3026 -0.593927906479051 C0035439 Rheumatic Heart Disease -1 3026 -0.5765788129642899 C0035455 Rhinitis -1 3026 -0.4496762253483149 C0035528 Riboflavin Deficiency -1 3026 -0.02050194146599354 C0035793 Rocky Mountain Spotted Fever -1 3026 -0.19390896784220887 C0035854 Rosacea -1 3026 -0.43360494095588703 C0035920 Rubella -1 3026 -0.4080838425398194 C0036117 Salmonella infections -1 3026 -0.6784382101940346 C0036202 Sarcoidosis -1 3026 -0.4606748040169482 C0036205 Sarcoidosis, Pulmonary -1 3026 -0.3518473170160895 C0036421 Systemic Scleroderma -1 3026 -0.2477409401269285 C0036457 Scrapie -1 3026 -0.6077709291851162 C0036472 Scrub Typhus -1 3026 -0.2586896540699469 C0037036 Sialorrhea -1 3026 -0.17108717260838313 C0037054 Sickle Cell Trait -1 3026 -0.5621559102777856 C0037061 Siderosis -1 3026 -0.7353168662973393 C0037116 Silicosis -1 3026 -0.4119184566807885 C0037231 Sjogren-Larsson Syndrome -1 3026 -0.06609869915249049 C0037299 Skin Ulcer -1 3026 -0.38105802314866094 C0037672 Somnambulism -1 3026 -0.5016328589695349 C0037822 Speech Disorders -1 3026 -0.29752061862228657 C0037921 Spinal ataxia -1 3026 -0.5343756130846081 C0037928 Spinal Cord Diseases -1 3026 -0.5606281342857762 C0037933 Spinal Diseases -1 3026 -0.25540195809893124 C0037997 Splenic Diseases -1 3026 -0.5717769732403344 C0038016 Spondylolisthesis -1 3026 -0.3514820092467822 C0038018 Spondylolysis -1 3026 -0.44582979752985386 C0038354 Stomach Diseases -1 3026 -0.32795406104225905 C0038358 Gastric ulcer -1 3026 -0.24765669340122218 C0038379 Strabismus -1 3026 -0.1910462658086828 C0038525 Subarachnoid Hemorrhage -1 3026 -0.46954675976487287 C0038644 Sudden infant death syndrome -1 3026 -0.5106017264830606 C0038868 Progressive supranuclear palsy -1 3026 -0.6612417400569626 C0039144 Syringomyelia -1 3026 -0.39847667770230927 C0039239 Sinus Tachycardia -1 3026 -0.5363230411033393 C0039292 Tangier Disease -1 3026 -0.9836407104762845 C0039445 Hereditary hemorrhagic telangiectasia -1 3026 -0.7699965701727863 C0039446 Telangiectasis -1 3026 -0.28075232111263515 C0039496 Temporomandibular Joint Dysfunction Syndrome -1 3026 -0.928977758449003 C0039503 Tendinitis -1 3026 -0.4107968525490993 C0039584 Testicular Diseases -1 3026 -0.34067620348034955 C0039730 Thalassemia -1 3026 -0.49687705334398063 C0039978 Thoracic Diseases -1 3026 -0.4836121856365811 C0040021 Thromboangiitis Obliterans -1 3026 -0.13312144285082955 C0040034 Thrombocytopenia -1 3026 -0.3014383971978779 C0040128 Thyroid Diseases -1 3026 -0.19124197449213168 C0040517 Gilles de la Tourette syndrome -1 3026 -0.3018557422857191 C0040580 Tracheal Diseases -1 3026 -0.6616490693443925 C0040583 Tracheal Stenosis -1 3026 -0.26597217657882477 C0040592 Trachoma -1 3026 -0.5800395332519728 C0040954 Infection by Trichuris trichiura -1 3026 -0.6941209444565906 C0040961 Tricuspid Valve Insufficiency -1 3026 -0.3141754282579077 C0040962 Tricuspid Valve Prolapse -1 3026 -0.4794346273614434 C0041227 Trypanosomiasis -1 3026 -0.576179743082458 C0041234 Chagas Disease -1 3026 -0.5290904734059042 C0041296 Tuberculosis -1 3026 -0.31535168489745136 C0041327 Tuberculosis, Pulmonary -1 3026 -0.3738845623638808 C0041351 Tularemia -1 3026 -0.455507379840565 C0041834 Erythema -1 3026 -0.27304712134953685 C0041948 Uremia -1 3026 -0.2419932044094678 C0041972 Urethral Obstruction -1 3026 -0.42377388158618656 C0041974 Urethral Stricture -1 3026 -0.5885822711733233 C0042029 Urinary tract infection -1 3026 -0.6372344437621441 C0042035 Urination Disorders -1 3026 -0.499047022766229 C0042109 Urticaria -1 3026 -0.3221161436048794 C0042164 Uveitis -1 3026 -0.311564186682649 C0042165 Anterior uveitis -1 3026 -0.368479952212266 C0042341 Varicocele -1 3026 -0.4938495177325569 C0042344 Varicose Ulcer -1 3026 -0.6721927796027686 C0042373 Vascular Diseases -1 3026 -0.34601802415150684 C0042384 Vasculitis -1 3026 -0.4461257411726901 C0042485 Venous Insufficiency -1 3026 -0.4896376275735145 C0042510 Ventricular Fibrillation -1 3026 -0.47402833673013606 C0042514 Tachycardia, Ventricular -1 3026 -0.5911986791668091 C0042580 Vesico-Ureteral Reflux -1 3026 -0.45613117834547795 C0042582 Vesicovaginal Fistula -1 3026 -0.6579926658432937 C0042594 Vestibular Diseases -1 3026 -0.31852907425705995 C0042721 Viral hepatitis -1 3026 -0.9420464262679327 C0042769 Virus Diseases -1 3026 -0.282685631980052 C0042798 Low Vision -1 3026 -0.2505905112980425 C0042870 Vitamin D Deficiency -1 3026 -0.6400186485461402 C0042900 Vitiligo -1 3026 -0.2597896860176038 C0042961 Intestinal Volvulus -1 3026 -0.2685155511215193 C0043046 Wasting Syndrome -1 3026 -0.692848181845001 C0043119 Werner Syndrome -1 3026 -0.3551778483015192 C0078981 Arachnoid Cysts -1 3026 -0.5221973803343206 C0079485 Heart Valve Prolapse -1 3026 -0.1551861583148612 C0079487 Helicobacter Infections -1 3026 -0.3775246394224922 C0080218 Tethered Cord Syndrome -1 3026 -0.2534027413801789 C0080276 Disorder of the genitourinary system -1 3026 -0.3908477542076728 C0085078 Lysosomal Storage Diseases -1 3026 -0.46450425238798204 C0085096 Peripheral Vascular Diseases -1 3026 -0.6239382082563966 C0085106 Familial benign pemphigus -1 3026 -0.23787400370965184 C0085109 Corneal Neovascularization -1 3026 -0.5194747718807611 C0085129 Bronchial Hyperreactivity -1 3026 -0.28639861378734566 C0085132 Mucopolysaccharidosis VII -1 3026 -0.09886845362806986 C0085166 Bacterial Vaginosis -1 3026 -0.5575874508140991 C0085253 Adult-Onset Still Disease -1 3026 -0.3264581081810419 C0085292 Stiff-Person Syndrome -1 3026 -0.208719229043136 C0085397 Pasteurellaceae Infections -1 3026 -0.5709997735049006 C0085437 Meningitis, Bacterial -1 3026 -0.4330480300433704 C0085568 Buruli Ulcer -1 3026 -0.5059810295520124 C0085570 Hypokalemic alkalosis -1 3026 -0.5819385986723766 C0085576 Iron-Refractory Iron Deficiency Anemia -1 3026 -0.4949592933415005 C0085580 Essential Hypertension -1 3026 -0.3767610846281665 C0085581 Restrictive lung disease -1 3026 -0.3772384167922997 C0085583 Choreoathetosis -1 3026 -0.22393953071058034 C0085605 Liver Failure -1 3026 -0.32496641109066093 C0085614 First degree atrioventricular block -1 3026 -0.45999570727564026 C0085615 Right bundle branch block -1 3026 -0.42287770729579927 C0085677 Alcoholic Neuropathy -1 3026 -0.5752285806658426 C0085679 Hyperchloremia -1 3026 -0.46026146421413067 C0085680 Hypochloremia (disorder) -1 3026 -0.6110935600131826 C0085681 Hyperphosphatemia (disorder) -1 3026 -0.5433217547248166 C0085682 Hypophosphatemia -1 3026 -0.7095774092586877 C0085684 Foot-drop -1 3026 -0.36827772790840113 C0085692 Hemorrhagic cystitis -1 3026 -0.528099893433115 C0085695 Chronic gastritis -1 3026 -0.49041572826487495 C0085932 Skin Diseases, Bullous -1 3026 -0.7069630726475445 C0149645 Cervical myelopathy -1 3026 -0.532799262304741 C0149678 Epstein-Barr Virus Infections -1 3026 -0.32695829871920323 C0149704 Gingivostomatitis -1 3026 -0.4990417158797966 C0149721 Left Ventricular Hypertrophy -1 3026 -0.36944676081306665 C0149801 Sepsis due to urinary tract infection -1 3026 -0.0937751928385744 C0149871 Deep Vein Thrombosis -1 3026 -0.44465613246653524 C0149875 Primary dysmenorrhea -1 3026 -0.46082888570921243 C0149887 Slipped Capital Femoral Epiphyses -1 3026 -0.4912325455549278 C0149910 Intermittent joint effusion -1 3026 -0.7313720503273908 C0149911 Humoral hypercalcemia of malignancy (disorder) -1 3026 -0.6842324470114944 C0149939 Obstructive nephropathy -1 3026 -0.3154954624661284 C0149940 Sciatic Neuropathy -1 3026 -0.26288271005222985 C0150988 Sclerodactyly -1 3026 -0.7051099349553142 C0151311 Cranial nerve palsies -1 3026 -0.39113038230392844 C0151313 Sensory neuropathy -1 3026 -0.21698869352478722 C0151517 Complete atrioventricular block -1 3026 -0.40799120626794333 C0151594 Hemorrhagic diarrhea -1 3026 -0.21444669427285956 C0151620 Hypertensive Encephalopathy -1 3026 -0.3253045415371799 C0151650 Renal fibrosis -1 3026 -0.2289904530730266 C0151699 Intracranial Hemorrhages -1 3026 -0.5279068134288254 C0151714 Hypermagnesemia -1 3026 -0.7191144536393199 C0151744 Myocardial Ischemia -1 3026 -0.20759383351422653 C0151798 Hepatic necrosis -1 3026 -0.5767019424343625 C0151891 Retinal depigmentation -1 3026 -0.402402224903907 C0151945 Thrombosis of cerebral veins -1 3026 -0.6207252041344464 C0152171 Idiopathic pulmonary hypertension -1 3026 -0.6047853951577685 C0152244 Bone Cysts, Aneurysmal -1 3026 -0.26265732305158496 C0152252 Anterior synechiae -1 3026 -0.5200458662915676 C0152253 Posterior synechiae -1 3026 -0.5769284140166075 C0154251 Lipid Metabolism Disorders -1 3026 -0.4406608515046257 C0154723 Migraine with Aura -1 3026 -0.7659587259409371 C0154850 Cystoid macular retinal degeneration -1 3026 -0.7064444931381448 C0154860 Hereditary retinal dystrophy -1 3026 -0.39585367729338505 C0155017 Color Blindness, Blue -1 3026 -0.5786809844605537 C0155094 Corneal pannus -1 3026 -0.6574137927857953 C0155120 Corneal Dystrophy, Band-Shaped -1 3026 -0.47154685233242183 C0155300 Pseudopapilledema -1 3026 -0.5921317961304805 C0155411 Exostosis of external ear canal -1 3026 -0.1999609235756228 C0155552 Hearing Loss, Mixed Conductive-Sensorineural -1 3026 -0.4216399689298519 C0155626 Acute myocardial infarction -1 3026 -0.3481422262182115 C0155699 Cardiomyopathy in other diseases classified elsewhere -1 3026 -0.11872926401970074 C0155733 Atherosclerosis of aorta -1 3026 -0.8515139479865148 C0155765 Disease of capillaries -1 3026 -0.5790634310275458 C0155773 Portal vein thrombosis -1 3026 -0.4720967562340611 C0155862 Streptococcal pneumonia -1 3026 -0.406226758298427 C0155877 Allergic asthma -1 3026 -0.5626973856244959 C0155964 Atrophy of tongue papillae -1 3026 -0.7069234581864203 C0156257 Calculus of kidney and ureter -1 3026 -0.6774723424280996 C0156312 Atrophy of testis -1 3026 -0.38707145206441734 C0156394 Hypertrophy of clitoris -1 3026 -0.46123270846769143 C0157946 Osteoarthrosis, localized, not specified whether primary or secondary -1 3026 -0.29745189824289464 C0158266 Intervertebral Disc Degeneration -1 3026 -0.5749210563370356 C0158945 Congenital cytomegalovirus infection -1 3026 -0.893322073018006 C0158981 Neonatal diabetes mellitus -1 3026 -0.8157934732483355 C0158986 Neonatal hypoglycemia -1 3026 -0.2811404573678135 C0158995 Congenital anemia -1 3026 -0.26677501472911946 C0162275 Ketonuria -1 3026 -0.4942228732455641 C0162291 Retinal ischemia -1 3026 -0.4022517472556383 C0162292 External Ophthalmoplegia -1 3026 -0.4950100607883697 C0162296 Polyarthralgia -1 3026 -0.7054599855307899 C0162429 Malnutrition -1 3026 -0.4895615818664825 C0162538 Immunoglobulin A deficiency (disorder) -1 3026 -0.39833934949322786 C0162557 Liver Failure, Acute -1 3026 -0.28349840415916155 C0162627 Skin Diseases, Bacterial -1 3026 -0.5516684342355321 C0162666 Mitochondrial Encephalomyopathies -1 3026 -0.34157926180847054 C0162672 MERRF Syndrome -1 3026 -0.47662668341394515 C0162674 Chronic progressive external ophthalmoplegia -1 3026 -0.4553619098761679 C0162739 HELLP Syndrome -1 3026 -0.5053988533829542 C0162820 Dermatitis, Allergic Contact -1 3026 -0.21101938179306717 C0162823 Dermatitis, Irritant -1 3026 -0.27209670450322515 C0162836 Hidradenitis Suppurativa -1 3026 -0.8023969593741017 C0162848 Lichenoid Eruptions -1 3026 -0.7048840820768016 C0162871 Aortic Aneurysm, Abdominal -1 3026 -0.3522986647599101 C0162872 Aortic Aneurysm, Thoracic -1 3026 -0.4504435107392892 C0175691 Dubowitz syndrome -1 3026 -0.5359810982910869 C0175692 Johanson-Blizzard syndrome -1 3026 -0.13334304009379858 C0175693 Russell-Silver syndrome -1 3026 -0.5055118039673764 C0175699 Saethre-Chotzen Syndrome -1 3026 -0.7951313449453304 C0178468 Autoimmune thyroid disease -1 3026 -0.24722415308079537 C0178664 Glomerulosclerosis (disorder) -1 3026 -0.4470501704377275 C0178879 Urinary tract obstruction -1 3026 -0.089177049565913 C0205711 Pelizaeus-Merzbacher Disease -1 3026 -0.9517308358034581 C0206061 Pneumonia, Interstitial -1 3026 -0.5379275134034395 C0206062 Lung Diseases, Interstitial -1 3026 -0.31517443346599566 C0206085 Kleine-Levin Syndrome -1 3026 -0.3230488396939948 C0206139 Lichen Planus, Oral -1 3026 -0.6841519466644531 C0206368 Exfoliation Syndrome -1 3026 -0.4357224369718784 C0206617 Cardiovirus Infections -1 3026 -0.6976922808165672 C0220669 Familial benign neonatal epilepsy -1 3026 -0.7495961371467739 C0220701 RETINITIS PIGMENTOSA 1 -1 3026 -0.17506361412821328 C0220708 VATER Association -1 3026 -0.5481585970064798 C0220710 Medium-chain acyl-coenzyme A dehydrogenase deficiency -1 3026 -0.12043052398802052 C0220711 Long chain acyl-CoA dehydrogenase deficiency -1 3026 -0.0761260315710523 C0220756 Niemann-Pick Disease, Type C -1 3026 -0.889707411568645 C0220767 Craniofrontonasal dysplasia -1 3026 -0.21575334347365918 C0220983 Metabolic alkalosis -1 3026 -0.4902501932608752 C0220994 Hyperammonemia -1 3026 -0.2540907199420614 C0221002 Hyperparathyroidism, Primary -1 3026 -0.6978413725478598 C0221155 Systolic hypertension -1 3026 -0.43576137045131574 C0221238 Mesangial proliferative glomerulonephritis -1 3026 -0.40336315597587896 C0221239 Rapidly progressive glomerulonephritis -1 3026 -0.8328280084716779 C0221376 Hydrosalpinx (disease) -1 3026 8.574435898511812e-05 C0221436 Melanoderma (disorder) -1 3026 -0.3284202796000132 C0221505 Lesion of brain -1 3026 -0.29554882072367183 C0231341 Premature aging syndrome -1 3026 -0.4361228371260259 C0232939 Primary physiologic amenorrhea -1 3026 -0.4725057638761001 C0232940 Secondary physiologic amenorrhea -1 3026 -0.5996547329795824 C0234958 Muscle degeneration -1 3026 -0.23716468819674325 C0235025 Peripheral motor neuropathy -1 3026 -0.3567297506186442 C0235833 Congenital diaphragmatic hernia -1 3026 -0.274396838144492 C0235950 Zinc deficiency -1 3026 -0.6617077086265792 C0236048 Polyposis, Gastric -1 3026 -0.8119869277173426 C0236663 Alcohol withdrawal syndrome -1 3026 -0.37673075151432345 C0237967 pediatric AIDS -1 3026 -0.014793605795845023 C0238013 Invasive aspergillosis -1 3026 -0.6800159594877118 C0238052 Xanthomatosis, Cerebrotendinous -1 3026 -0.30958592302811244 C0238067 Colitis, Collagenous -1 3026 -0.39854429053195506 C0238159 Hemoglobin E disease -1 3026 -0.9042381076495994 C0238183 Idiopathic atrophic hypothyroidism -1 3026 -0.11173937155339342 C0238284 Acute mountain sickness -1 3026 -0.6524974036911717 C0238286 Mucolipidosis Type IV -1 3026 -0.5475066314891006 C0238288 Muscular Dystrophy, Facioscapulohumeral -1 3026 -0.48882858843140664 C0238402 Pycnodysostosis -1 3026 -0.027571400855581196 C0238621 Aminoaciduria -1 3026 -0.47613641588275335 C0238644 Anemia, severe -1 3026 -0.7063723063826839 C0238669 Aortic root dilatation -1 3026 -0.3775605361402538 C0238790 bone destruction -1 3026 -0.5275824806533971 C0239105 Conjunctival telangiectasis -1 3026 -0.3757744925921675 C0239981 Hypoalbuminemia -1 3026 -0.5546485351423172 C0240679 Pelvic girdle muscle atrophy -1 3026 -0.576821751003161 C0241880 Endometriosis of pelvis -1 3026 -0.07709152713609807 C0241910 Hepatitis, Autoimmune -1 3026 -0.46002965761838516 C0242231 Coronary Stenosis -1 3026 -0.39939652834074235 C0242339 Dyslipidemias -1 3026 -0.4289743835419219 C0242381 Lyme Arthritis -1 3026 -0.8220308956050713 C0242422 Parkinsonian Disorders -1 3026 -0.9007026277053194 C0242528 Azotemia -1 3026 -0.642026445438459 C0242583 Bare Lymphocyte Syndrome -1 3026 -0.5763822860220088 C0242666 Protein S Deficiency -1 3026 -0.6478755112606746 C0242723 Parasitemia -1 3026 -0.7702790807276736 C0242966 Systemic Inflammatory Response Syndrome -1 3026 -0.755501042434063 C0243000 Impotence, Vasculogenic -1 3026 -0.08516924045314965 C0259817 Xerosis -1 3026 -0.20028018834520028 C0262655 Recurrent urinary tract infection -1 3026 -0.33104092149531844 C0262985 Psoriasiform eczema -1 3026 -0.3933510204536005 C0262988 Vasculitis of the skin -1 3026 -0.6924211474453232 C0263338 Chronic urticaria -1 3026 -0.005678787581959892 C0263361 Psoriasis vulgaris -1 3026 -0.33493316063181616 C0263401 Cutis marmorata -1 3026 -0.43594493250185085 C0263420 Hyperkeratosis lenticularis perstans -1 3026 -0.7491305525289842 C0263454 Chloracne -1 3026 -0.29590860970214045 C0263485 Clastothrix -1 3026 -0.44996459201021 C0263490 Brittle hair -1 3026 -0.29469319162531393 C0263504 Alopecia totalis -1 3026 -0.5346321685035732 C0263536 Hypertrophy of nail -1 3026 -0.7065513201405119 C0263537 Onychogryposis -1 3026 -0.3877939470873808 C0263625 Subcutaneous calcification -1 3026 -0.7033321542104669 C0263630 Hypertrophic disorder of skin, unspecified -1 3026 -0.08622711964473471 C0263641 Epithelial hyperplasia of skin -1 3026 -0.369395983755992 C0263661 Disorder of skeletal system -1 3026 -0.5925857718780243 C0264080 Juvenile osteoporosis -1 3026 -0.4891318133266003 C0264112 Wedging of vertebra -1 3026 -0.4050139079198685 C0264122 Atrophy, Disuse -1 3026 -0.12055212424044963 C0264324 Calcification of trachea -1 3026 -0.5753090032217609 C0264408 Childhood asthma -1 3026 -0.30685899859488613 C0264423 Asthma, Occupational -1 3026 -0.325626468634038 C0264544 Adhesion of lung -1 3026 -0.7008985612435306 C0264716 Chronic heart failure -1 3026 -0.5913171370758789 C0264912 Left anterior fascicular block -1 3026 -0.5300769453355605 C0265000 Ulcer of artery -1 3026 -0.6522170123234302 C0265202 Seckel syndrome -1 3026 -0.5631768752905659 C0265253 Stickler syndrome (disorder) -1 3026 -0.7615958874157319 C0265265 Aase syndrome -1 3026 -0.1907424349970973 C0265289 Metaphyseal chondrodysplasia Schmid type -1 3026 -0.03190786265583014 C0265294 Pyle metaphyseal dysplasia -1 3026 -0.14610066849296402 C0265295 Jansen type metaphyseal chondrodysplasia -1 3026 -0.9992063649394264 C0265312 Brachydactyly syndrome type E -1 3026 -0.7067811755015558 C0265316 Neurocutaneous Syndromes -1 3026 -0.5768684375627345 C0265331 Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) -1 3026 -0.5565092806602819 C0265336 Senter syndrome -1 3026 -0.9420460908784692 C0265338 Coffin-Siris syndrome -1 3026 -0.44329776961200273 C0265339 Borjeson-Forssman-Lehmann syndrome -1 3026 -0.006214288191643181 C0265449 Pallister-Killian syndrome -1 3026 0.0 C0265493 Cat eye syndrome -1 3026 -0.09580863141880915 C0265706 Gastroschisis -1 3026 -0.47012782036712386 C0265962 Ichthyosis linearis circumflexa -1 3026 -0.06325265560938668 C0266039 Taurodontism -1 3026 -0.5238785105936402 C0266050 Failure of exfoliation of primary tooth -1 3026 -0.35162984306879724 C0266063 Deep overbite -1 3026 -0.4994584673742607 C0266807 Acute gastrointestinal hemorrhage -1 3026 -0.2030868684175719 C0266815 Cow milk allergy -1 3026 -0.21739081854451983 C0266929 Chronic Periodontitis -1 3026 -0.5825300107301905 C0266999 Vesicular Stomatitis -1 3026 -0.27610186974510365 C0267048 Glossoptosis -1 3026 -0.38522088039021146 C0267055 Erosive esophagitis -1 3026 -0.42864553437217445 C0267187 Intestinal metaplasia of gastric mucosa -1 3026 -0.55255881451691 C0267373 Intestinal hemorrhage NOS -1 3026 -0.5068608299628485 C0267456 Villous atrophy of intestine -1 3026 -0.482234144546694 C0267662 Congenital chloride diarrhea -1 3026 -0.04521941248724366 C0267812 Micronodular cirrhosis -1 3026 -0.28568160935592657 C0267818 Bile duct proliferation -1 3026 -0.4360543021644093 C0267952 Fibrosis of pancreas -1 3026 -0.5449802700077041 C0267971 Storage disease -1 3026 -0.5167237843595957 C0267988 Hyperproteinemia -1 3026 -0.2880774355661934 C0268070 Hypocupremia -1 3026 -0.47565685358198956 C0268080 Hypercalcemia, Idiopathic, of Infancy -1 3026 -0.8092374742783371 C0268126 Adenylosuccinate lyase deficiency (disorder) -1 3026 -0.0736856872210769 C0268135 Xeroderma pigmentosum, group A -1 3026 -0.06268320974981972 C0268149 Glycogen storage disease type X -1 3026 -0.0570026718903536 C0268155 Deficiency of galactokinase -1 3026 -0.7728497403394432 C0268157 Galactosuria -1 3026 -0.8075676132958378 C0268160 Deficiency of fructokinase -1 3026 0.0 C0268162 Pentosuria -1 3026 -0.0075669212395970955 C0268164 Primary hyperoxaluria, type I -1 3026 -0.2858951501026546 C0268186 Congenital glucose-galactose malabsorption -1 3026 -0.0016663644515262747 C0268187 alpha, alpha-Trehalase deficiency -1 3026 -0.007785365528194421 C0268194 Phosphoenolpyruvate carboxykinase deficiency -1 3026 -0.0892333298486987 C0268233 GALACTOSIALIDOSIS -1 3026 -0.13971275065665767 C0268238 Triglyceride storage disease with ichthyosis -1 3026 -0.02368858907799224 C0268274 Gangliosidoses, GM2 -1 3026 -0.439726372119959 C0268275 Tay-Sachs Disease, AB Variant -1 3026 -0.13734361975496123 C0268306 Unconjugated hyperbilirubinemia -1 3026 -0.7401710726410593 C0268362 Osteogenesis imperfecta type III (disorder) -1 3026 -0.861209724922411 C0268363 Osteogenesis imperfecta type IV (disorder) -1 3026 -0.8339377144353992 C0268381 Primary amyloidosis -1 3026 -0.11492313476384469 C0268382 Amyloid nephropathy -1 3026 -0.7141218852235794 C0268389 Amyloidosis, familial visceral -1 3026 -0.4950897504841664 C0268410 Acid Phosphatase Deficiency -1 3026 4.7458523753762805e-05 C0268416 Enterokinase Deficiency -1 3026 0.00015381050415574915 C0268417 Pancreatic trypsinogen deficiency -1 3026 -0.45270193625055044 C0268418 Deficiency of glycerol kinase -1 3026 -0.03491145952935876 C0268450 Gitelman Syndrome -1 3026 -0.32672636261246335 C0268468 Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency -1 3026 -0.28061343982636194 C0268514 Urocanase deficiency -1 3026 8.535500487516501e-05 C0268524 gamma-Glutamyltransferase deficiency -1 3026 -0.013657071462646485 C0268525 5-oxoprolinase deficiency -1 3026 -0.10206207261596578 C0268543 Hyperammonemia, type III -1 3026 -0.005718224896034836 C0268547 Argininosuccinic Aciduria -1 3026 -0.16749344484599343 C0268563 Sarcosinemia -1 3026 -0.0012613408390620615 C0268575 Isovaleryl-CoA dehydrogenase deficiency -1 3026 -0.09725317230904854 C0268603 Acetyl-CoA: carboxylase deficiency -1 3026 -0.09976464964094796 C0268609 Glutamate formiminotransferase deficiency -1 3026 -0.04096331303977709 C0268615 5,10-Methylenetetrahydrofolate reductase deficiency -1 3026 -0.5726825316843647 C0268630 Hyper-beta-alaninemia -1 3026 -0.4426413950567654 C0268631 succinic semialdehyde dehydrogenase deficiency -1 3026 -0.7070947328511087 C0268647 Lysinuric Protein Intolerance -1 3026 -0.2762273059528392 C0268731 Renal glomerular disease -1 3026 -0.3500576291038949 C0270680 Posterior fossa compression syndrome -1 3026 -0.7065453818209848 C0270814 Spastic syndrome -1 3026 -0.42841069590605235 C0270834 Complex partial seizure with impairment of consciousness -1 3026 -0.4792365724093486 C0270850 Idiopathic generalized epilepsy -1 3026 -0.43751316974672094 C0270871 Facial Myokymia -1 3026 -0.2359727572400152 C0270913 Charcot-Marie-Tooth disease, Type 1C -1 3026 -0.08576346904284302 C0270914 Hereditary Motor and Sensory-Neuropathy Type II -1 3026 -0.6880696727938986 C0270922 Peripheral demyelinating neuropathy -1 3026 -0.4370877543287857 C0270952 Muscular Dystrophy, Oculopharyngeal -1 3026 -0.6330027443073344 C0271055 Rhegmatogenous retinal detachment -1 3026 -0.7123854576688304 C0271092 Progressive cone dystrophy (without rod involvement) -1 3026 -0.5427626982957751 C0271183 Severe myopia -1 3026 -0.48795229506782395 C0271385 Horizontal Nystagmus -1 3026 -0.5249470572017755 C0271390 Nystagmus, End-Position -1 3026 -0.32656019968143385 C0271582 Isolated lutropin deficiency (disorder) -1 3026 -0.6279552019236789 C0271650 Impaired glucose tolerance -1 3026 -0.32936576595514105 C0271682 Mixed sensory-motor polyneuropathy -1 3026 -0.7103361877619541 C0271713 Ketotic hypoglycemia -1 3026 -0.22957645849074804 C0271742 Glucocorticoid deficiency with achalasia -1 3026 -0.2071968470095374 C0271815 Postpartum Thyroiditis -1 3026 -0.7065722322451075 C0271901 Microcytic hypochromic anemia (disorder) -1 3026 -0.5078353991935519 C0271972 Thiamine-responsive megaloblastic anemia -1 3026 -0.15006108321039657 C0271980 beta^0^ Thalassemia -1 3026 -0.8686925490476475 C0271985 Delta-Beta Thalassemia -1 3026 -0.6565227787014224 C0271994 Hereditary persistence of fetal hemoglobin thalassemia -1 3026 -0.49549383378517364 C0272002 alpha^0^ Thalassemia -1 3026 -0.760284972881921 C0272048 stomatocytic anemia -1 3026 -0.6847812895204546 C0272066 Glycogen Storage Disease XII -1 3026 -0.4080682055320563 C0272137 Tn Syndrome -1 3026 -0.018881458387035265 C0272138 Erythroblastosis -1 3026 -0.23730460635564668 C0272278 Congenital thrombocytopenia -1 3026 -0.4973302704153424 C0272285 Heparin-induced thrombocytopenia -1 3026 -0.11454803188085474 C0272286 Thrombocytopenia due to platelet alloimmunization -1 3026 -0.3209091253300792 C0272339 Prekallikrein deficiency -1 3026 -0.49999628328030093 C0272386 Hypertrophy of tonsils -1 3026 -0.5595028054798312 C0272387 Hyperplasia of tonsils -1 3026 -0.19852424536009908 C0276138 Viral myocarditis -1 3026 -0.7458648753193136 C0276199 Canarypox (disorder) -1 3026 -0.22484083499462557 C0276275 Disease due to Parvoviridae -1 3026 -0.5229751922717034 C0276548 HIV encephalitis -1 3026 -0.5367339216348392 C0276653 Invasive Pulmonary Aspergillosis -1 3026 -0.6138842867056022 C0276680 Infection by Candida albicans -1 3026 -0.5615882717923424 C0282525 Adrenoleukodystrophy, Neonatal -1 3026 -0.9006175096172937 C0282528 Peroxisomal Disorders -1 3026 -0.5856115676985959 C0282548 Leukostasis -1 3026 -0.5301430628965493 C0282577 Congenital Disorders of Glycosylation -1 3026 -0.25700374314568575 C0302129 Achromatopsia 1 -1 3026 -0.6710240717869911 C0302180 Condyloma -1 3026 -0.4847278424354963 C0302332 Poisoning syndrome -1 3026 -0.24860867161955516 C0302358 Disease caused by Shigella dysenteriae -1 3026 -0.693088591761175 C0302362 Brucella melitensis infection -1 3026 -0.011419811830458926 C0302810 Uremia syndrome -1 3026 -0.7064145688068038 C0333291 Bleeding ulcer -1 3026 -0.4360588878757101 C0333497 Segmental glomerulosclerosis -1 3026 -0.7298062454455683 C0333519 Caries (morphologic abnormality) -1 3026 -0.32903250965538533 C0333559 Infarction, Lacunar -1 3026 -0.5376095169149107 C0333693 Triploidy syndrome -1 3026 -0.7011323668834575 C0333980 Focal Nodular Hyperplasia -1 3026 -0.7055527707196945 C0334013 Phrynoderma -1 3026 -0.41858031537098833 C0334082 NEVUS, EPIDERMAL (disorder) -1 3026 -0.6323414069843679 C0334166 Pseudoainhum -1 3026 -0.49644780446686615 C0338437 Neurocysticercosis -1 3026 -0.5633505052953413 C0338451 Frontotemporal dementia -1 3026 -0.7778631937419447 C0338455 Dementia of frontal lobe type -1 3026 -0.571183572507911 C0338474 Central nervous system demyelination -1 3026 -0.6266541707934753 C0338480 Common Migraine -1 3026 -0.42052504069594676 C0338657 Age-associated memory impairment -1 3026 -0.6950764614883452 C0339467 Proliferative retinopathy -1 3026 -0.5538590975193645 C0339505 Venous retinal branch occlusion -1 3026 -0.7011010323371976 C0339985 Idiopathic bronchiectasis -1 3026 -0.7496026544297528 C0340044 Acute exacerbation of chronic obstructive airways disease -1 3026 -0.042745100642952734 C0340231 Tracheobronchomalacia -1 3026 -0.7068466109314009 C0340279 Ventricular hypertrophy -1 3026 -0.25469840684388273 C0340288 Stable angina -1 3026 -0.5660835751572103 C0340434 Dystrophic cardiomyopathy -1 3026 0.0 C0340629 Aortic aneurysm without mention of rupture NOS -1 3026 -0.5306551629379428 C0340630 Aortic Aneurysm, Thoracoabdominal -1 3026 -0.5083502065586095 C0340971 Autoimmune neutropenia -1 3026 -0.6367809627277548 C0341306 Microvillus inclusion disease -1 3026 -0.674846062300803 C0341439 Chronic liver disease -1 3026 -0.31073926921160183 C0341858 Endometriosis of uterus -1 3026 -0.49101852612599367 C0341869 Subfertility, Female -1 3026 -0.25415887293580597 C0342190 C-cell hyperplasia of thyroid -1 3026 -0.6114503293806024 C0342195 Thyroid Dyshormonogenesis 4 -1 3026 -0.1541192005920531 C0342196 Thyroid Dyshormonogenesis 5 -1 3026 -0.15411940594780474 C0342257 Complications of Diabetes Mellitus -1 3026 -0.4143953485905392 C0342276 Maturity onset diabetes mellitus in young -1 3026 -0.5504424808069084 C0342286 Woodhouse Sakati syndrome -1 3026 -0.05658384225528965 C0342289 Diabetes-deafness syndrome maternally transmitted (disorder) -1 3026 -0.2662241667079131 C0342443 Adrenal Cushing\'s syndrome -1 3026 -0.4959573329082139 C0342474 Lipoid congenital adrenal hyperplasia -1 3026 -0.4035189917829403 C0342492 Adrenal hypertrophy or hyperplasia -1 3026 -0.5660453166437478 C0342527 Deficiency of testosterone biosynthesis -1 3026 -0.6564323450434967 C0342538 Constitutional delay of growth and puberty -1 3026 -0.35309719707374965 C0342735 Cytosolic acetoacetyl-CoA thiolase deficiency -1 3026 -0.13772234831220098 C0342738 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency -1 3026 -0.09954194715712662 C0342739 Trimethylaminuria -1 3026 -0.2248987363763192 C0342779 Complex V deficiency -1 3026 -0.41084221974161034 C0342785 Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency -1 3026 -0.5770257286597573 C0342788 Renal carnitine transport defect -1 3026 -0.3566382873199088 C0342791 Carnitine-Acylcarnitine Translocase Deficiency -1 3026 -0.23680214381772813 C0342793 Malonic aciduria -1 3026 -0.24706044254495307 C0342853 Sialuria -1 3026 -0.8726548541982981 C0342873 Glutaric Aciduria III -1 3026 -0.28216182581543 C0342953 Organ dysfunction syndrome -1 3026 -0.814223091033482 C0343401 MRSA - Methicillin resistant Staphylococcus aureus infection -1 3026 -0.45720398396891576 C0343641 Human papilloma virus infection -1 3026 -0.3761386654658173 C0343751 Asymptomatic human immunodeficiency virus infection -1 3026 -0.32146187108291846 C0343752 Acute HIV infection -1 3026 -0.24919712995531226 C0344290 Vitreoretinal degeneration -1 3026 -0.4055068670478485 C0344432 Ventricular tachycardia, polymorphic -1 3026 -0.697602401718359 C0344505 Alacrima -1 3026 -0.4871162538938632 C0347915 Congenital malformation syndromes associated with short stature -1 3026 -0.7513430603709436 C0348454 Other hypoparathyroidism -1 3026 -0.5108967994645905 C0348484 Other disorders of branched-chain amino-acid metabolism -1 3026 -0.4941682904498587 C0348489 Other sphingolipidosis -1 3026 -0.5766173336119848 C0349489 Fetal Hypoxia -1 3026 -0.139869757685142 C0349782 Ischemic cardiomyopathy -1 3026 -0.3275675026982012 C0362046 Prediabetes syndrome -1 3026 -0.3032194002153856 C0375019 Human T-cell lymphotrophic virus, type I [HTLV-I] -1 3026 -0.014873057857479203 C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site -1 3026 -0.5336542912988097 C0376175 Bell Palsy -1 3026 -0.3403757834382185 C0376670 Pancreatitis, Alcoholic -1 3026 -0.5666103157661867 C0392163 Corneal erosion -1 3026 -0.3643384884433401 C0392464 Ventricular aneurysm -1 3026 -0.6975964516477928 C0392475 Roberts-SC phocomelia syndrome -1 3026 -0.03758590255423881 C0392525 Nephrolithiasis -1 3026 -0.363096833896984 C0392777 Poikiloderma -1 3026 -0.3748811962648636 C0393484 Rasmussen Syndrome -1 3026 -0.1852721420897243 C0393489 Vacuolar myelopathy -1 3026 -0.43827825694345496 C0393525 Progressive cerebellar ataxia -1 3026 -0.3540180237048745 C0393534 Paraneoplastic Cerebellar Degeneration -1 3026 -0.005793362460027485 C0393547 Bulbospinal Neuronopathy -1 3026 -0.8113582676909887 C0393559 Troyer syndrome -1 3026 -0.09983497815235017 C0393819 Polyradiculoneuropathy, Chronic Inflammatory Demyelinating -1 3026 -0.5140887102943857 C0395887 Tympanosclerosis -1 3026 -0.2571803788774572 C0398595 Myeloperoxidase Deficiency -1 3026 -0.4431840197445234 C0398597 Histiocytic syndrome -1 3026 -0.7064364374817766 C0398623 Thrombophilia -1 3026 -0.5323483893017077 C0398626 Heparin cofactor II deficiency (disorder) -1 3026 -0.49296598997841384 C0398635 Thromboxane synthetase deficiency -1 3026 -0.0693855016132823 C0398639 Amegakaryocytic thrombocytopenia -1 3026 -0.39286234422689303 C0398686 Primary immune deficiency disorder -1 3026 -0.377851220335458 C0398739 Congenital disorder of glycosylation, type 2C -1 3026 -0.15041665888941122 C0398782 Carboxypeptidase N Deficiency -1 3026 -0.03846950634422741 C0398791 Nijmegen Breakage Syndrome -1 3026 -0.46335883640604036 C0399376 Amelogenesis Imperfecta, Type III -1 3026 -0.1902548278145811 C0399385 Early tooth exfoliation -1 3026 -0.3582233520737238 C0399447 Early onset periodontitis -1 3026 -0.6465891814031776 C0401151 Chronic diarrhea -1 3026 -0.31200053486628504 C0403397 Steroid-resistant nephrotic syndrome -1 3026 -0.5465125801663037 C0403416 Idiopathic crescentic glomerulonephritis -1 3026 -0.37650370462043076 C0403477 Medullary nephrocalcinosis -1 3026 -0.7068275139980906 C0403529 Anti-Glomerular Basement Membrane Disease -1 3026 -0.7761393631810467 C0403554 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness -1 3026 -0.19893027137001051 C0403592 Chronic rejection of renal transplant -1 3026 -0.5437245994353731 C0403810 Oligosynaptic Infertility -1 3026 0.0 C0403812 Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa -1 3026 5.675718682929265e-05 C0403823 Asthenozoospermia -1 3026 -0.5001082191033804 C0405580 Adrenal cortical hypofunction -1 3026 -0.7526044791528858 C0406704 Rudiger syndrome 1 -1 3026 -0.9955622785791582 C0406707 Basan syndrome -1 3026 -0.07427995726712472 C0406723 Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy -1 3026 -0.11397675373417245 C0409959 Osteoarthritis, Knee -1 3026 -0.3355362529393256 C0410000 Overlap syndrome -1 3026 -0.6022053798195515 C0410005 Nodular fasciitis -1 3026 -0.6721962092732064 C0410173 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) -1 3026 -0.2752726530844099 C0410180 Eichsfeld type congenital muscular dystrophy -1 3026 -0.284344915514671 C0410204 Myopathy, Centronuclear, Autosomal Recessive -1 3026 -0.506284065283823 C0410550 Collapse of vertebra -1 3026 -0.239908972448546 C0410606 Cervical Disc Degenerative Disorder -1 3026 -0.25572538744058565 C0410632 Schmorl\'s nodes -1 3026 -0.7062857615097432 C0410653 Atlantoaxial instability -1 3026 -0.5768496565517036 C0423319 Atrophic iris -1 3026 -0.6052773440812623 C0423320 Iridodonesis -1 3026 -0.705994764223129 C0423682 Low Back Pain, Mechanical -1 3026 -0.6598178265345499 C0426824 Beading of ribs -1 3026 -0.5247427193578947 C0426970 Spastic Quadriplegia -1 3026 -0.3782368966114283 C0428851 Dilatation of pulmonary artery, unspecified -1 3026 -0.705899300594959 C0431370 Atrophy of corpus callosum -1 3026 -0.3525709488214716 C0431718 Multiple renal cysts -1 3026 -0.4378158767998754 C0432198 Short rib-polydactyly syndrome, Beemer type -1 3026 -0.3578792174688475 C0432221 Spondylometaphyseal dysplasia, \'corner fracture\' type -1 3026 -0.7064295324031197 C0432226 Metaphyseal anadysplasia -1 3026 -0.7060584205594721 C0432235 Cranioectodermal Dysplasia -1 3026 -0.4590503140920707 C0432268 Osteopathia striata cranial sclerosis -1 3026 -0.1209020664623781 C0432284 Infantile myofibromatosis -1 3026 -0.8325015836029737 C0442840 Cardiac embolism -1 3026 -0.19675569838471033 C0442874 Neuropathy -1 3026 -0.3479254884724501 C0451693 Severe combined immunodeficiency with low T- and B-cell numbers -1 3026 -0.577033216074415 C0454651 Specific language impairment -1 3026 -0.33982954269711313 C0455988 Hydrops Fetalis, Non-Immune -1 3026 -0.45829373133101364 C0456107 Neonatal meningitis -1 3026 -0.1418589036085428 C0458219 Complex Regional Pain Syndromes -1 3026 -0.8073266228272881 C0472803 Hypodysfibrinogenemia -1 3026 -0.5902394465784971 C0473133 Protracted diarrhea -1 3026 -0.7533383742562348 C0477370 Other generalized epilepsy and epileptic syndromes -1 3026 -0.6422932116692109 C0494261 Combined immunodeficiency -1 3026 -0.6253051156496853 C0497156 Lymphadenopathy -1 3026 -0.3106397814439187 C0520459 Necrotizing Enterocolitis -1 3026 -0.3518372989941102 C0520575 Acute pyelonephritis -1 3026 -0.43591650767502726 C0520680 Sleep Apnea, Central -1 3026 -0.4177743378118779 C0520736 Coombs positive hemolytic anemia -1 3026 -0.7122139394599377 C0520743 Mediastinal lymphadenopathy -1 3026 -0.5818068251063635 C0521173 Granulomatosis -1 3026 -0.6743164588250598 C0521533 Atrial septal aneurysm -1 3026 -0.6733327205960457 C0521585 Gastrointestinal mucositis -1 3026 -0.6200897098672958 C0521683 Chorioretinal degeneration -1 3026 -0.36997652528982894 C0521694 Atrophic retina -1 3026 -0.46288625528178634 C0521707 Bilateral cataracts (disorder) -1 3026 -0.5418922992254367 C0521719 Clouding of corneal stroma -1 3026 -0.39688003825492835 C0524524 Pseudoaphakia -1 3026 -0.37291712421093964 C0524620 Metabolic Syndrome X -1 3026 -0.3952371773558991 C0524909 Hepatitis B, Chronic -1 3026 -0.35698831096892936 C0524910 Hepatitis C, Chronic -1 3026 -0.4412180254607196 C0524912 Hepatitis, Chronic, Drug-Induced -1 3026 -0.447100605345242 C0542035 Erythroid hypoplasia -1 3026 -0.4177277595051028 C0543699 ASA intolerant asthma -1 3026 -0.23436243348884103 C0543800 Idiopathic hypercalciuria -1 3026 -0.15275466259667658 C0544786 wegener\'s granuloma -1 3026 -0.6669883298411721 C0549225 Myasthenic Syndrome -1 3026 -0.7065653040005779 C0549493 Alveolitis -1 3026 -0.5668907002964604 C0549523 Oropharynx (excludes nasopharynx) -1 3026 -0.7877605082925826 C0553604 Myotonic Disorders -1 3026 -0.7399726473959255 C0553681 Hypofibrinogenemia -1 3026 -0.8249315279786193 C0553694 Oropharyngeal disorders -1 3026 -0.6477921303528226 C0555232 pseudohermaphrodite (non-specific) -1 3026 -0.6393817762856181 C0559483 Pentalogy of Cantrell -1 3026 -0.39352666432113664 C0565599 Maternal hypertension -1 3026 -0.5883009769121564 C0574080 Guanidinoacetate methyltransferase deficiency -1 3026 -0.27718375542960616 C0574143 Liver calculus -1 3026 -0.3826047908665319 C0575059 Spastic tetraparesis -1 3026 -0.2113953018239482 C0578682 Madarosis of eyebrow -1 3026 -0.27539106271398356 C0581381 Recurrent upper respiratory tract infection -1 3026 -0.38910338484641 C0584960 Factor V Leiden mutation -1 3026 -0.4849299804346352 C0597048 Neurogenic hypertension -1 3026 -0.6686021500075939 C0598589 Inherited neuropathies -1 3026 -0.7237197254836885 C0598608 Hyperhomocysteinemia -1 3026 -0.4753058858915288 C0600260 Lung Diseases, Obstructive -1 3026 -0.575729695653605 C0600327 Toxic Shock Syndrome -1 3026 -0.46277697512867927 C0600433 Activated Protein C Resistance -1 3026 -0.7037461919070668 C0600452 Hepatopulmonary Syndrome -1 3026 -0.39830518224019573 C0677607 Hashimoto Disease -1 3026 -0.5539737195133333 C0677944 Sentinel node (disorder) -1 3026 -0.36848761515116535 C0679362 Tuberculosis, extrapulmonary -1 3026 -0.402272354072368 C0679427 myeloblastosis -1 3026 0.0 C0683381 inflammatory joint disease -1 3026 -0.5457163925332148 C0684256 Bacterial sepsis -1 3026 -0.6977092700568093 C0684275 Hemophilia, NOS -1 3026 -0.5400701955886297 C0686353 Muscular Dystrophies, Limb-Girdle -1 3026 -0.73728407917115 C0694549 Community acquired pneumonia -1 3026 -0.43909291730603295 C0699743 Congenital muscular dystrophy (disorder) -1 3026 -0.5358683600928653 C0699949 airway disease -1 3026 -0.5077332013042586 C0700594 Radiculopathy -1 3026 -0.5676977711887984 C0700636 Focal nodular hyperplasia of liver -1 3026 -0.5672800950921331 C0701807 Acute anterior uveitis -1 3026 -0.3876551358611692 C0701818 Choledocholithiasis -1 3026 -0.18020632258641947 C0702157 Thalassemia trait -1 3026 -0.85549511683423 C0702166 Acne -1 3026 -0.44434499267707844 C0729353 Subfertility -1 3026 -0.393783013319341 C0729582 Floating-harbor syndrome -1 3026 -0.06349912489265258 C0730292 Macular dystrophy -1 3026 -0.49820490326703737 C0730294 North Carolina macular dystrophy -1 3026 -0.0003725212970044882 C0730307 Cancer-Associated Retinopathy -1 3026 -0.005430013852421147 C0730328 Central Serous Chorioretinopathy -1 3026 -0.3816862363015866 C0730330 Chloroquine retinopathy -1 3026 -0.5769360246425723 C0730362 Disorder of macula of retina -1 3026 -0.6368012623953646 C0740304 COPD exacerbation -1 3026 -0.005230514705879541 C0740340 Amyloidosis, Familial -1 3026 -0.6604107389289856 C0740380 Varicella zoster -1 3026 -0.4436272803660851 C0741796 Recurrent bronchitis -1 3026 -0.5397391849914961 C0741923 cardiac event -1 3026 -0.6380428732201187 C0743101 developmentally delayed -1 3026 -0.05411338485539503 C0743178 Intractable diarrhea -1 3026 -0.4074753145735882 C0744310 gastritis h pylori -1 3026 -0.6800554475825827 C0745106 hyperparathyroid -1 3026 -0.7315697588548795 C0745287 infertility tubal factor -1 3026 -0.48865693433617163 C0746102 Chronic lung disease -1 3026 -0.425879574658003 C0746495 Recurrent meningitis -1 3026 -0.7069665498827838 C0746926 Multiple, subcutaneous nodules -1 3026 -0.3323894954945699 C0747102 Ovarian failure -1 3026 -0.6873877949181596 C0747651 Recurrent aspiration pneumonia -1 3026 -0.4990964982253658 C0747845 early pregnancy -1 3026 -0.5617920586906372 C0749379 Thoracolumbar scoliosis -1 3026 -0.2756273174957098 C0750940 Tremor, Rubral -1 3026 -0.2709337035436664 C0751157 FRAXE Syndrome -1 3026 -0.7369808682424853 C0751336 Distal Muscular Dystrophies -1 3026 -0.5392252598495909 C0751337 X-Linked Emery-Dreifuss Muscular Dystrophy -1 3026 -0.5689394015754426 C0751514 Verbal Fluency Disorders -1 3026 -0.5770309332137836 C0751559 Pulsatile Tinnitus -1 3026 -0.5541160750120945 C0751656 Nemaline Myopathy, Autosomal Dominant -1 3026 -0.7070334347285447 C0751762 Central Sleep Apnea, Primary -1 3026 -0.18175470712767636 C0751771 Sleep Bruxism -1 3026 -0.3864065528856494 C0751785 Unverricht-Lundborg Syndrome -1 3026 -0.1002677071641552 C0751857 Mercurial Neuroanesthenia -1 3026 -0.1159581820596158 C0751865 Alcohol-Induced Disorders, Nervous System -1 3026 -0.0028613502720327938 C0751870 Heredodegenerative Disorders, Nervous System -1 3026 -0.577141451854157 C0751958 Lymphoma, Lymphocytic, Intermediate -1 3026 -0.3002995357425789 C0751964 Multiple Sclerosis, Primary Progressive -1 3026 -0.7604593930395682 C0752210 Dyskinesias, Paroxysmal -1 3026 -0.8435270609663142 C0752347 Lewy Body Disease -1 3026 -0.4415339965283618 C0795833 Kleefstra Syndrome -1 3026 -0.041614082613942685 C0795839 Chromosome 10, monosomy 10q -1 3026 -0.575725779112634 C0795889 Allan-Herndon-Dudley syndrome (AHDS) -1 3026 -0.10303634891738887 C0795907 CONOTRUNCAL ANOMALY FACE SYNDROME -1 3026 -0.7272004894867883 C0795915 Winter Shortland Temple syndrome -1 3026 -0.037763235888457314 C0795940 Filippi syndrome -1 3026 -0.0580229689584968 C0795950 Corpus callosum agenesis neuronopathy -1 3026 -0.15526929193130523 C0795956 Chylomicron retention disease -1 3026 -0.16417800818811312 C0795996 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) -1 3026 -0.34938094926031776 C0796055 Mercaptolactate-Cysteine Disulfiduria -1 3026 -0.00962804220331226 C0796068 Oculodigitoesophagoduodenal syndrome -1 3026 -0.2923675299319567 C0796095 Opitz trigonocephaly syndrome -1 3026 -0.13811498313075518 C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor -1 3026 -0.00982633876145506 C0796121 Primrose syndrome -1 3026 -0.03216596629702779 C0796135 Renpenning syndrome 1 -1 3026 -0.4773888868516565 C0796149 Scott Syndrome -1 3026 -0.056180608222171205 C0796154 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 -1 3026 -0.13911397414965956 C0796160 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE -1 3026 -0.027729042751717267 C0796195 Waisman syndrome -1 3026 -0.08843484369115005 C0796202 Wittwer syndrome -1 3026 -0.1721138585195816 C0796208 MENTAL RETARDATION, X-LINKED 3 -1 3026 -0.08764370241158555 C0796215 Mental Retardation, X-Linked 9 -1 3026 -0.6734495292352781 C0796232 Bohring syndrome -1 3026 -0.4033240364655671 C0809983 Schizophrenia and related disorders -1 3026 -0.2858948683484115 C0810032 Pancreatic disorders (not diabetes) -1 3026 -0.6778569601242272 C0847614 Nasal allergies -1 3026 -0.499182770413812 C0850666 Infection caused by Helicobacter pylori -1 3026 -0.3648487122071072 C0850803 Anaphylaxis (non medication) -1 3026 -0.6490981572559842 C0851887 Adenoviral infections -1 3026 -0.6845106425199396 C0852949 Arteriopathic disease -1 3026 -0.6733127883914046 C0853897 Diabetic Cardiomyopathies -1 3026 -0.3334100154434096 C0854110 Insulin-resistant diabetes mellitus -1 3026 -0.5595560312440181 C0854242 Gastrointestinal angiodysplasia -1 3026 -0.7885283317510141 C0854723 Retinal Dystrophies -1 3026 -0.38560373307379614 C0856169 Endothelial dysfunction -1 3026 -0.3764831652350785 C0856727 Cholesterol gallstones -1 3026 -0.7030155393996094 C0856825 Acute GVH disease -1 3026 -0.4035795660189296 C0856904 Allergy to fish -1 3026 -0.09801215340396659 C0860204 Cholestatic liver disease -1 3026 -0.508886781478224 C0867389 Chronic graft-versus-host disease -1 3026 -0.6522452843604342 C0870082 Hyperkeratosis -1 3026 -0.2587529555814142 C0872084 Sarcopenia -1 3026 -0.39078969150434484 C0876991 Histiocytosis haematophagic -1 3026 -0.6977977050971722 C0877015 Pelvic Organ Prolapse -1 3026 -0.231978868495509 C0878521 Beta thalassemia trait -1 3026 -0.8624644845003328 C0878555 Diffuse panbronchiolitis -1 3026 -0.1529234378767042 C0878693 Conjunctivochalasis -1 3026 -0.5259118180021671 C0878787 Growth failure -1 3026 -0.2714409419285013 C0917713 Becker Muscular Dystrophy -1 3026 -0.7483062215867075 C0917800 Epilepsy, Myoclonic, Infantile -1 3026 -0.7422789448621538 C0917990 Acro-Osteolysis -1 3026 -0.5341333834216053 C0919715 Lupus-like syndrome -1 3026 -0.35283675493932304 C0919718 Calcification of mitral valve -1 3026 -0.497980028150447 C0936215 Vitamin B 6 Deficiency -1 3026 -0.5109438605154858 C0936250 Eczema Herpeticum -1 3026 -0.8178014493047988 C0947751 Vascular inflammations -1 3026 -0.40990696696209 C0947912 Myasthenias -1 3026 -0.3487669002904993 C0948008 Ischemic stroke -1 3026 -0.3813781815443334 C0948089 Acute Coronary Syndrome -1 3026 -0.24203514074895324 C0948162 Edema of bone marrow -1 3026 -0.7067948743176661 C0948201 Alloimmunisation -1 3026 -0.1552717142763108 C0948343 Transfusion-Related Acute Lung Injury -1 3026 -0.03473974562332257 C0948387 Secondary Adrenal Insufficiency -1 3026 -0.41113471354577213 C0948480 Coronary Restenosis -1 3026 -0.3935136244631339 C0949173 Delayed menarche -1 3026 -0.5743392082341149 C0949506 Porokeratosis of Mibelli -1 3026 -0.49305031910497715 C0949664 Tauopathies -1 3026 -0.61447345091942 C0949691 Spondylarthropathies -1 3026 -0.8279854265426192 C0949804 Polyomavirus Infections -1 3026 -0.35203773984288234 C0950123 Genetic Diseases, Inborn -1 3026 -0.15355591098445434 C0969687 Autosomal Chromosome Disorders -1 3026 5.605283724063881e-05 C1112256 Sensorimotor neuropathy -1 3026 -0.3418456104892155 C1112433 Thromboembolic stroke -1 3026 -0.7066335244113368 C1112601 Hypertonic dehydration -1 3026 -0.7064003910010761 C1135191 Heart Failure, Systolic -1 3026 -0.701960805417356 C1136249 Mental Retardation, X-Linked -1 3026 -0.38372774929217696 C1141926 Abdominal sepsis -1 3026 -0.49939122633793637 C1142127 Pneumococcal bacteraemia -1 3026 -0.05916158938256195 C1142166 Brugada Syndrome (disorder) -1 3026 -0.4471969224697812 C1142272 Neutrophilic dermatosis -1 3026 -0.5295829220508024 C1145670 Respiratory Failure -1 3026 -0.2473863702588168 C1175175 Severe Acute Respiratory Syndrome -1 3026 -0.5878698210522094 C1258215 Ileus -1 3026 -0.5165657991293773 C1260903 Dysfibrinogenemia -1 3026 -0.7195812399173404 C1260959 Drusen -1 3026 -0.4528637923084976 C1262091 Lymphocytic infiltration -1 3026 -0.598732389545041 C1263733 Uroporphyrinuria -1 3026 -0.3863231088839469 C1264606 Persistent infection -1 3026 -0.7546629675119374 C1268936 Diarrhea-associated hemolytic uremic syndrome -1 3026 -0.005720167332169431 C1273976 First myocardial infarction -1 3026 -0.7047902142089135 C1274743 Hyperhidrosis Palmaris Et Plantaris -1 3026 -0.45947333591316614 C1274865 Scleroderma-like secondary cutaneous sclerosis -1 3026 -0.3761443640133629 C1279945 Acute interstitial pneumonia -1 3026 -0.6425402338520243 C1280433 Lipoatrophy -1 3026 -0.41263776558049653 C1282609 Granulocytosis -1 3026 -0.6624816742033792 C1283620 Sucrase-isomaltase deficiency, congenital -1 3026 -0.10511246672011536 C1285162 Degenerative disorder -1 3026 -0.39435541353034165 C1285291 Fetal ascites -1 3026 -0.5766233775491987 C1290708 Osteomyelitis of mandible -1 3026 -0.6596347556297086 C1290857 Disorder of face -1 3026 -0.35571244899841375 C1290884 Inflammatory disorder -1 3026 -0.48377666249119483 C1290886 Chronic inflammatory disorder -1 3026 -0.5812724166680174 C1291329 Transaldolase Deficiency -1 3026 -0.08638196532758971 C1291373 Deficiency of sedoheptulokinase -1 3026 -0.05670549594766882 C1291463 Deficiency of phosphoserine phosphatase -1 3026 -0.27731196626549925 C1291490 Hyaluronidase Deficiency -1 3026 -0.04265239929789482 C1291512 Beta-Ureidopropionase Deficiency -1 3026 -0.4045134846107487 C1291607 Deficiency of maleylacetoacetate isomerase -1 3026 0.0001208355815277562 C1291609 Ribose 5-Phosphate Isomerase Deficiency -1 3026 -0.02373816714477273 C1291620 Deficiency of bisphosphoglycerate mutase -1 3026 -0.4081374698531548 C1299614 Non-insulin-dependent diabetes mellitus with unspecified complications -1 3026 -0.4991229877956262 C1303073 Nicolaides Baraitser syndrome -1 3026 -0.13354680086921644 C1304470 Generalized vitiligo -1 3026 -0.5876826798433896 C1305904 Familial hematuria -1 3026 -0.573381114990803 C1306759 Eosinophilic disorder -1 3026 -0.48379189882882595 C1306856 Megaloblastic anemia due to inborn errors of metabolism -1 3026 -0.0815278877493714 C1318500 Non-toxic nodular goiter -1 3026 -0.6954256747134634 C1318533 Secondary polycythemia -1 3026 -0.6320773793559569 C1321551 Shprintzen-Goldberg syndrome -1 3026 -0.4027315408748858 C1327919 Myelocerebellar Disorder -1 3026 -0.05809912771138745 C1328355 Laryngoonychocutaneous syndrome -1 3026 -0.3564540907123679 C1332309 Anti-Basement Membrane Glomerulonephritis -1 3026 -0.29030430736552204 C1332355 Autoimmune Hepatitis with Centrilobular Necrosis -1 3026 -0.02886376101876895 C1332629 Breast Fibrocystic Change, Proliferative Type -1 3026 -0.021664394535679362 C1335051 Non-Neoplastic Urinary System Disorder -1 3026 -0.7070510936185546 C1384582 Primary testicular failure -1 3026 -0.0017547316524740841 C1384666 hearing impairment -1 3026 -0.1816872560685266 C1387532 Chronic hemolytic anemia -1 3026 -0.4896174540667242 C1389113 Generalized amyotrophy -1 3026 -0.36828709107871194 C1389118 Peroneal muscle atrophy -1 3026 -0.49806825093440704 C1402294 Primary Lesion -1 3026 -0.8372209357785949 C1402315 Vascular lesions -1 3026 -0.5516935166286777 C1408507 Supranuclear ophthalmoplegia -1 3026 -0.5017437378297868 C1414017 DEAFNESS, AUTOSOMAL RECESSIVE 25 -1 3026 7.493674954894836e-05 C1414216 Dystonia 6, torsion (disorder) -1 3026 -0.6037314054565592 C1419614 RETINITIS PIGMENTOSA 28 -1 3026 -0.08062378773139238 C1423873 CONE-ROD DYSTROPHY 9 -1 3026 -0.1644635768651457 C1442903 Exostoses -1 3026 -0.4798249058447985 C1442981 Alcoholic liver damage -1 3026 -0.2343588937067426 C1456144 Dental caries pit and fissure -1 3026 -0.029789359425319795 C1456145 Dental caries of smooth surface -1 3026 -0.02493678506281874 C1456240 Narcolepsy without cataplexy -1 3026 -0.5563077884503749 C1456873 alpha^+^ Thalassemia -1 3026 -0.6996094103659743 C1458140 Bleeding tendency -1 3026 -0.33254261591036816 C1504382 Pulmonary arterial medial hypertrophy -1 3026 -0.7069474305944112 C1510431 Superficial thrombophlebitis -1 3026 -0.7068508504342761 C1510449 Chronic iridocyclitis -1 3026 -0.7005234643188901 C1511789 Desmoplastic -1 3026 -0.609868527443128 C1519680 Tumor Immunity -1 3026 -0.31545196718620205 C1527375 Cystic Breast Disease -1 3026 -0.1512367374430224 C1531773 Currarino triad -1 3026 -0.6084440169143566 C1535939 Pneumocystis jiroveci pneumonia -1 3026 -0.43963907254807955 C1536220 ST segment elevation myocardial infarction -1 3026 -0.48894472534948885 C1536500 Deficiency of acetyl-CoA acetyltransferase -1 3026 -0.13028743783480456 C1541923 Infective endocarditis -1 3026 -0.6541384449782331 C1561826 Overweight and obesity -1 3026 -0.28165312712217044 C1561989 Limbal stem cell deficiency -1 3026 -0.04623773052575294 C1562689 Congenital hereditary endothelial dystrophy -1 3026 -0.5718073799713284 C1562761 Punctate epithelial keratitis -1 3026 -0.5760939944034595 C1567743 Alport Syndrome, Autosomal Dominant -1 3026 -0.9207528541637204 C1567744 Alport Syndrome, Autosomal Recessive -1 3026 -0.9645216730875145 C1568247 Usher Syndrome, Type I -1 3026 -0.7869123560512251 C1568272 Tendinopathy -1 3026 -0.2023645402745911 C1568363 Tendinosis -1 3026 -0.47594909946775327 C1609433 Congenital absence of kidneys syndrome -1 3026 -0.5607252488502452 C1609528 Restrictive deficit on pulmonary function testing -1 3026 -0.3848230626643701 C1611743 Familial (FPAH) -1 3026 -0.43708537070472775 C1619692 Nephrogenic Fibrosing Dermopathy -1 3026 -0.5763482561610453 C1621895 Adrenal hyperplasia -1 3026 -0.5375803113521245 C1623038 Cirrhosis -1 3026 -0.2366220543430549 C1691228 Cystic Kidney Diseases -1 3026 -0.4290995571538691 C1692871 Inflammatory polyarthritis -1 3026 -0.6378421703993467 C1696466 Hepatic calcification -1 3026 -0.7067523418269169 C1697453 Spontaneous hematomas -1 3026 -0.4985543772630858 C1708371 Histiocytoid Cardiomyopathy -1 3026 -0.21434191664857058 C1709661 Primary Focal Segmental Glomerulosclerosis -1 3026 -0.7065530034583501 C1719495 Aggressive periodontitis, generalized -1 3026 -0.6973109387369271 C1720189 Episodic Ataxia -1 3026 -0.4774334501563131 C1720887 Female Urogenital Diseases -1 3026 -0.24210905050204795 C1720983 Channelopathies -1 3026 -0.6192042568785128 C1812607 Aortic aneurysm and dissection -1 3026 -0.83101141245341 C1827301 Extensively Drug-Resistant Tuberculosis -1 3026 0.0 C1832167 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism -1 3026 0.0002741409010058593 C1832200 Peroxisome biogenesis disorders -1 3026 -0.9215092098020125 C1832334 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D -1 3026 -0.24244974040243628 C1832378 Retinitis Pigmentosa 18 -1 3026 -0.07732878776359554 C1832387 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2 (disorder) -1 3026 -0.020341111656024344 C1832471 Renal dysplasia diffuse cystic -1 3026 -0.12032925641411028 C1832544 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder) -1 3026 -0.07260962632729136 C1832585 CEREBELLAR ATAXIA, CAYMAN TYPE -1 3026 -0.019761793166765733 C1832587 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 -1 3026 -0.5069053357186469 C1832589 Neuronal Intestinal Dysplasia, Type B -1 3026 -0.05833340911288637 C1832932 DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) -1 3026 -0.017428772248094596 C1832976 Cone-Rod Dystrophy 5 -1 3026 -0.15016978825409485 C1832992 DEAFNESS, AUTOSOMAL RECESSIVE 6 -1 3026 1.5738087206007556e-05 C1833053 Proprotein Convertase 1 3 Deficiency -1 3026 -0.06661418521025457 C1833136 Marden Walker like syndrome -1 3026 -0.03792413904483352 C1833229 Cataract, Congenital Zonular, with Sutural Opacities -1 3026 -0.21996491110254815 C1833245 Retinitis Pigmentosa 17 -1 3026 -0.06115807207861223 C1833372 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III -1 3026 -0.07700753122178954 C1834014 Oculopharyngodistal Myopathy -1 3026 -0.1513324445957921 C1834015 Progressive ptosis -1 3026 -0.7067356094463925 C1834207 Ceroid Lipofuscinosis, Neuronal, Parry Type -1 3026 -0.410545827272754 C1834460 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 -1 3026 -0.24071305160153003 C1834877 HOLOPROSENCEPHALY 2 (disorder) -1 3026 -0.016851245092334783 C1835009 MESOMELIC DYSPLASIA, KANTAPUTRA TYPE -1 3026 0.0 C1835121 Premature osteoarthritis -1 3026 -0.6052507000984044 C1835614 Hereditary Hyperexplexia -1 3026 -0.5048990104290466 C1835662 Keratosis palmoplantaris papulosa -1 3026 -0.04950658548466444 C1835672 Palmoplantar Keratoderma with Deafness -1 3026 -0.9247362059292625 C1835697 Keratitis Fugax Hereditaria -1 3026 -0.7953595671598626 C1835817 FANCONI ANEMIA, COMPLEMENTATION GROUP N -1 3026 -0.22676610421870702 C1835829 Immunodeficiency due to Defect in MAPBP-Interacting Protein -1 3026 -0.06696495301824257 C1835849 Congenital Disorder Of Glycosylation, Type Im -1 3026 -0.2669767801526007 C1835851 Ichthyosis with hypotrichosis, autosomal recessive -1 3026 -0.1366800678712646 C1835854 DEAFNESS, AUTOSOMAL RECESSIVE 68 -1 3026 -0.028631526350130915 C1835888 Diarrhea 4, Malabsorptive, Congenital -1 3026 -0.03400184623266399 C1835895 RETINITIS PIGMENTOSA 33 (disorder) -1 3026 -0.0797268171981353 C1835897 Retinal Cone Dystrophy 3B -1 3026 -0.22110619618535568 C1835905 Epilepsy, Nocturnal Frontal Lobe, Type 4 -1 3026 -0.04447235943243985 C1835912 AICARDI-GOUTIERES SYNDROME 4 -1 3026 -0.31569862279346433 C1835916 AICARDI-GOUTIERES SYNDROME 3 -1 3026 -0.31574958189523217 C1835922 Aminoacylase 1 deficiency -1 3026 -0.1096922414172719 C1835923 Retinitis Pigmentosa 31 -1 3026 -0.059241913267911644 C1835931 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY -1 3026 -0.47794021240321555 C1835933 Glaucoma 1, Open Angle, G -1 3026 -0.31721785809832975 C1836033 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome -1 3026 -0.05774882454483742 C1836118 LEFT VENTRICULAR NONCOMPACTION 2 -1 3026 -0.8127111552261239 C1836123 Goldberg-Shprintzen megacolon syndrome -1 3026 -0.1823033126774216 C1836255 Preeclampsia Eclampsia 4 -1 3026 0.00013288933637467526 C1836295 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.09882288342756029 C1836330 ERYTHROKERATODERMIA VARIABILIS 3 (disorder) -1 3026 -0.04848415573206482 C1836336 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H -1 3026 -0.2424360096648984 C1836383 SPINOCEREBELLAR ATAXIA 27 -1 3026 -0.3989604446065509 C1836395 SPINOCEREBELLAR ATAXIA 26 -1 3026 -0.09961117927449906 C1836451 Distal lower limb amyotrophy -1 3026 -0.27516956883416094 C1836472 Nemaline myopathy 6 -1 3026 -0.1259591192706741 C1836573 GRISCELLI SYNDROME, TYPE 3 -1 3026 -0.39382337576418003 C1836632 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.04480117035187995 C1836669 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If -1 3026 -0.2635907108082274 C1836743 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 -1 3026 -0.24439175937050472 C1836765 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) -1 3026 -0.002445149055714357 C1836797 Combined Oxidative Phosphorylation Deficiency 1 -1 3026 -0.04822608645879998 C1836823 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness -1 3026 -0.0608053178019785 C1836824 Amish Infantile Epilepsy Syndrome -1 3026 -0.1525247344668294 C1836830 Developmental regression -1 3026 -0.31512530945164746 C1836860 FANCONI ANEMIA, COMPLEMENTATION GROUP J -1 3026 -0.21749979937739103 C1836861 FANCONI ANEMIA, COMPLEMENTATION GROUP I -1 3026 -0.20450652363923938 C1836899 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.0433694499585171 C1836906 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 -1 3026 -0.3504112050668719 C1837015 ATAXIA, SENSORY, AUTOSOMAL DOMINANT -1 3026 -0.03286589320286683 C1837065 CD8 Deficiency, Familial -1 3026 -0.1409271110640503 C1837073 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy -1 3026 -0.14996943251960645 C1837122 Myasthenic Syndrome, Congenital, Fast-Channel -1 3026 -0.624388743151276 C1837149 Alzheimer Disease 9 -1 3026 -0.1271443429664531 C1837174 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 -1 3026 -0.49433288159364136 C1837251 Basal ganglia cysts -1 3026 -0.5770496038210127 C1837396 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie -1 3026 -0.27338473147064907 C1837429 Pyruvate dehydrogenase phosphatase deficiency -1 3026 -0.06999978686878401 C1837471 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 -1 3026 -0.05315096948607594 C1837501 Microcephaly, Primary Autosomal Recessive, 5 -1 3026 -0.07821870274675799 C1837518 Spinocerebellar ataxia 25 -1 3026 0.0 C1837530 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency -1 3026 -0.577316007689109 C1837541 SPINOCEREBELLAR ATAXIA 20 -1 3026 0.0 C1837610 ICHTHYOSIS PREMATURITY SYNDROME -1 3026 -0.0654437226859615 C1837615 Ciliary Dyskinesia, Primary, 5 -1 3026 -0.39358073203001326 C1837618 CILIARY DYSKINESIA, PRIMARY, 3 -1 3026 -0.2336252754011486 C1837658 Gross motor development delay -1 3026 -0.22805935766430124 C1837713 JOUBERT SYNDROME 3 -1 3026 -0.2801696588912089 C1837756 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY -1 3026 -0.6755871352488364 C1837811 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 -1 3026 -0.0019063119798025786 C1837857 DEAFNESS, AUTOSOMAL RECESSIVE 35 -1 3026 -0.01898664806063606 C1837873 LEBER CONGENITAL AMAUROSIS 9 (disorder) -1 3026 -0.24510702865102743 C1837991 Colorectal Adenomatous Polyposis, Autosomal Recessive -1 3026 -0.22486409794492923 C1838023 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 -1 3026 0.0 C1838180 CODAS syndrome -1 3026 -0.057553481496477314 C1838192 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) -1 3026 -0.22347798294021395 C1838254 RIPPLING MUSCLE DISEASE 1 -1 3026 -0.9932069239550668 C1838260 DIABETES MELLITUS, INSULIN-DEPENDENT, 5 -1 3026 -0.20581293276127258 C1838261 DIABETES MELLITUS, INSULIN-DEPENDENT, 4 -1 3026 -0.002780041773777553 C1838263 Deafness, Autosomal Recessive 3 -1 3026 -0.028553515548802443 C1838327 Polycystic kidneys, severe infantile with tuberous sclerosis -1 3026 -0.6734188055659049 C1838359 Diffuse palmoplantar keratoderma, Bothnian type -1 3026 -0.11245359946460141 C1838457 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 -1 3026 -0.21362845771075195 C1838547 MELANOMA-PANCREATIC CANCER SYNDROME -1 3026 -0.542194738041206 C1838601 Retinitis Pigmentosa 11 -1 3026 -0.08062169302558932 C1838608 Radial aplasia -1 3026 -0.38722734916445745 C1838612 Rhizomelic chondrodysplasia punctata, type 3 -1 3026 -0.007037253631479703 C1838654 Nivelon Nivelon Mabille syndrome -1 3026 -0.1628706556941509 C1838657 Vitamin D Hydroxylation-Deficient Rickets, Type 1B -1 3026 -0.15804880738872812 C1838702 Retinitis Pigmentosa 13 -1 3026 -0.1195228445497597 C1838703 Bladder Exstrophy and Epispadias Complex -1 3026 -0.8941338901263046 C1839258 SPLIT-HAND/FOOT MALFORMATION 2 -1 3026 0.0 C1839264 SPASTIC PARAPLEGIA 2, X-LINKED (disorder) -1 3026 -0.8493842081065434 C1839463 TARP syndrome -1 3026 0.00018697657514743504 C1839576 OPTIC ATROPHY 2 (disorder) -1 3026 0.0 C1839728 METACARPAL 4-5 FUSION -1 3026 0.0 C1839840 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE -1 3026 -0.3394654854981567 C1839841 SPERMATOGENIC FAILURE, X-LINKED, 2 -1 3026 -0.04497090270299669 C1840253 IgE RESPONSIVENESS, ATOPIC -1 3026 -0.352910247121436 C1840264 IMMUNE SUPPRESSION -1 3026 -0.556485422805154 C1840390 Pseudohypoaldosteronism, Type IIb -1 3026 -0.2839662197561711 C1840391 Pseudohypoaldosteronism, Type IIc -1 3026 -0.4392403336138485 C1840452 Hyaloideoretinal degeneration of Wagner -1 3026 -0.5079836631276653 C1840528 HOLOPROSENCEPHALY 4 (disorder) -1 3026 7.691719902680472e-05 C1840560 Hidradenitis suppurativa, familial -1 3026 -0.5262807987285545 C1840572 HIP DYSPLASIA, BEUKES TYPE -1 3026 -0.1391424656301435 C1841721 ACHROMATOPSIA 4 -1 3026 -0.5752037376948709 C1841984 GLOMUVENOUS MALFORMATIONS -1 3026 -0.018214695265994448 C1842062 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F -1 3026 -0.2747328671560533 C1842090 Platelet Glycoprotein IV Deficiency -1 3026 -0.4408115769753896 C1842127 Retinitis Pigmentosa 26 -1 3026 -0.09301156640516342 C1842237 Charcot-Marie-Tooth Disease, Dominant Intermediate C -1 3026 4.758106400870599e-05 C1842247 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 -1 3026 -0.0328914018687268 C1842342 DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder) -1 3026 -0.25661789786963973 C1842357 Slowed Nerve Conduction Velocity, Autosomal Dominant -1 3026 1.9804111169197114e-05 C1842371 DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) -1 3026 -0.10883605747798909 C1842398 Neutrophil Immunodeficiency Syndrome -1 3026 -0.056319585606088934 C1842422 Synpolydactyly 2 -1 3026 2.3478769125007126e-05 C1842466 Uniparental disomy, paternal, chromosome 14 -1 3026 -0.1594046688357489 C1842486 Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc -1 3026 2.7783631165734235e-05 C1842563 Heterotopia, Periventricular, Autosomal Recessive -1 3026 -0.48915382756430237 C1842605 SCHIZOPHRENIA 11 -1 3026 0.0 C1842687 PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) -1 3026 -0.07789911448948764 C1842839 HYPOTRICHOSIS 6 -1 3026 -0.08910821479115225 C1842884 Caudal Duplication Anomaly -1 3026 -0.002677246840756998 C1842937 AURAL ATRESIA, CONGENITAL -1 3026 -0.33490847477069996 C1842939 Deafness, Autosomal Dominant 48 -1 3026 -0.022815832379813772 C1843116 Bile acid synthesis defect, congenital, 1 -1 3026 -0.4974189651161635 C1843156 Progressive sensorineural hearing impairment -1 3026 -0.47616680771021247 C1843211 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT -1 3026 -0.14781645223288475 C1843264 DYSTONIA 13, TORSION -1 3026 -0.011311175079478097 C1843355 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS -1 3026 -0.04844012233901874 C1843366 NIEMANN-PICK DISEASE, TYPE C2 -1 3026 -0.47271750469157947 C1843478 Lethal Congenital Contracture Syndrome 2 -1 3026 -0.048118020019141124 C1843486 Degenerative vitreoretinopathy -1 3026 -0.7067681940516545 C1843569 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.0433694499585171 C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) -1 3026 -0.31879427464011445 C1843884 SPINOCEREBELLAR ATAXIA 18 -1 3026 3.978640636326247e-05 C1843891 SPINOCEREBELLAR ATAXIA 21 -1 3026 -0.08704908538356669 C1843895 Deafness, Autosomal Dominant 44 -1 3026 -0.019013193649844884 C1843942 Mental Retardation, Autosomal Recessive 2 -1 3026 0.0 C1844597 Molluscoid pseudotumors -1 3026 -0.6168596138896217 C1844678 Progressive hearing loss stapes fixation -1 3026 -0.5295100435405142 C1844853 Brachytelephalangic Chondrodysplasia Punctata -1 3026 -0.27026752607153537 C1844887 Catel Manzke syndrome -1 3026 -0.12788706414178844 C1845028 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA -1 3026 -0.03080515101331572 C1845070 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked -1 3026 -0.3336285302301788 C1845102 Hyperekplexia and Epilepsy -1 3026 -0.2611621694517868 C1845105 Premature Ovarian Failure 2b -1 3026 -0.010836227279630904 C1845142 MENTAL RETARDATION, X-LINKED 91 (disorder) -1 3026 -0.6734837195403295 C1845151 Glycogen Storage Disease, Type IXD -1 3026 -0.05674257258912981 C1845243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE -1 3026 -0.058362381509063546 C1845285 Martin-Probst Deafness-Mental Retardation Syndrome -1 3026 6.10706547760076e-05 C1845293 Premature Ovarian Failure 2a -1 3026 -0.010813814088467216 C1845333 Mental Retardation, X-Linked 45 -1 3026 -0.6734744023599617 C1845341 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder) -1 3026 3.322439058706106e-05 C1845343 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders -1 3026 -0.008738220565463806 C1845366 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance -1 3026 -0.01865376730088006 C1845446 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia -1 3026 -0.018978364515852903 C1845526 Mental Retardation, X-Linked 46 -1 3026 -0.6734744023599617 C1845530 Stocco dos Santos syndrome -1 3026 4.0717980977933443e-05 C1845861 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT -1 3026 -0.03734056833892443 C1845862 Creatine deficiency, X-linked -1 3026 -0.13735736170956633 C1846046 SPASTIC PARAPLEGIA 16, X-LINKED (disorder) -1 3026 -0.0448150982904677 C1846055 Siderius X-linked mental retardation syndrome -1 3026 1.832119643285779e-05 C1846145 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 -1 3026 5.088051659885018e-06 C1846174 Mental Retardation, X-Linked 58 -1 3026 -0.36751847894984985 C1846265 Microphthalmia, syndromic 2 -1 3026 -0.06272856648603006 C1846278 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) -1 3026 -0.04474117521784045 C1846421 Lathosterolosis -1 3026 -0.07180533610342306 C1846534 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 -1 3026 -0.024222205491326056 C1846632 Thyroid Dyshormonogenesis 6 -1 3026 -0.37567340487475226 C1846647 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.30127720773901306 C1846685 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder) -1 3026 -0.0448150982904677 C1846707 SPINOCEREBELLAR ATAXIA 17 -1 3026 -0.22982498963619138 C1846784 Deafness, Autosomal Recessive 30 -1 3026 -0.028695451869013417 C1846896 Deafness, Autosomal Recessive 22 -1 3026 -0.02874275324866782 C1847089 USHER SYNDROME, TYPE IG -1 3026 -0.34208905904036935 C1847524 Hyperopic astigmatism -1 3026 -0.7069678081530558 C1847540 Azoospermia, Nonobstructive -1 3026 0.0 C1847554 CILIARY DYSKINESIA, PRIMARY, 2 (disorder) -1 3026 -0.20441792632547187 C1847627 Dyskinesia, Familial, with Facial Myokymia -1 3026 -0.2617618999682048 C1847827 LIG4 Syndrome -1 3026 -0.17592267440857806 C1847987 HUNTINGTON DISEASE-LIKE 2 -1 3026 -0.14278402160047432 C1848138 X INACTIVATION, FAMILIAL SKEWED, 1 (disorder) -1 3026 4.180929599917338e-05 C1848204 DEAFNESS, X-LINKED 4 (disorder) -1 3026 0.0 C1848411 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E -1 3026 -0.021298651645753154 C1848528 Extrapyramidal dyskinesia -1 3026 -0.44681322377914146 C1848736 Distal amyotrophy -1 3026 -0.39079832463720643 C1849011 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE -1 3026 -0.15693500664295923 C1849128 Spastic paraplegia 15, autosomal recessive -1 3026 -0.2310973316566585 C1849140 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE -1 3026 -0.223244210268476 C1849156 Spastic Ataxia -1 3026 -0.3480414242298882 C1849173 Periventricular gray matter heterotopia -1 3026 -0.40028834397243884 C1849348 Richieri Costa Pereira syndrome -1 3026 0.0 C1849386 Myoglobinuria, Acute Recurrent, Autosomal Recessive -1 3026 -0.08495806786637 C1849452 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) -1 3026 -0.10188568660899319 C1849507 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to -1 3026 -0.05370840932381993 C1849524 Pygmy (disorder) -1 3026 -0.5100984361578308 C1849678 Peroxisomal ACYL-COA oxidase deficiency -1 3026 -0.018665671601767422 C1849699 Progesterone Resistance -1 3026 -0.045313926683482456 C1849718 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE -1 3026 -0.19317299700950982 C1850000 Presentey Anomaly -1 3026 4.2479888530233545e-05 C1850040 Pelviscapular dysplasia -1 3026 -0.1646502516513662 C1850053 Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 -1 3026 -0.0429927316797955 C1850100 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.3774725800934733 C1850106 RAINE SYNDROME -1 3026 -0.2189395864514276 C1850127 Osteopetrosis, Autosomal Recessive 1 -1 3026 -0.45407678419550807 C1850169 OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) -1 3026 -0.11998638015924014 C1850442 CEROID LIPOFUSCINOSIS, NEURONAL, 5 -1 3026 -0.10666200425831483 C1850625 Native American myopathy -1 3026 -0.011939769762119317 C1850718 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE -1 3026 -0.16659792660136485 C1850746 Myopathy, congenital nonprogressive with Moebius and Robin sequences -1 3026 -0.03320591933832518 C1850792 Congenital myasthenic syndrome ib -1 3026 -0.17460396745227283 C1850794 Proximal amyotrophy -1 3026 -0.2768668750103472 C1851100 LAURIN-SANDROW SYNDROME -1 3026 -0.8884090922654183 C1851120 Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia -1 3026 -0.05497445417685114 C1851316 Iron Overload, Autosomal Dominant -1 3026 -0.1475052342479485 C1851841 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 -1 3026 -0.956518365735389 C1851970 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT -1 3026 -0.6269683816163654 C1852092 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 -1 3026 -0.949504677090041 C1852581 EPILEPSY, BENIGN NEONATAL, 2 -1 3026 -0.4269855800156902 C1853100 CEREBROOCULOFACIOSKELETAL SYNDROME 4 -1 3026 -0.4998874415935252 C1853118 Severe congenital neutropenia -1 3026 -0.3825692873682448 C1853136 Neutral Lipid Storage Disease with Myopathy -1 3026 -0.07952177975745911 C1853154 Nemaline Myopathy 7 -1 3026 -0.08388345954502469 C1853193 Recurrent skin infections -1 3026 -0.4600115762762297 C1853223 Deafness, Autosomal Recessive 67 -1 3026 -0.019013193649844884 C1853251 Spastic Paraplegia 33, Autosomal Dominant -1 3026 -0.09100887178862802 C1853258 Seborrhea-Like Dermatitis with Psoriasiform Elements -1 3026 -0.24250568660111377 C1853271 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY -1 3026 -0.2707971025509333 C1853276 Deafness, Autosomal Recessive 28 -1 3026 -0.004627335583554931 C1853286 Erythrocytosis, Familial, 3 -1 3026 -0.10989493278928172 C1853354 Peeling skin syndrome, acral type -1 3026 -0.23222567080168222 C1853445 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET -1 3026 -0.19581866470614112 C1853509 Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome -1 3026 -0.005123424148994471 C1853666 Anemia, Diamond-Blackfan, 2 -1 3026 -0.0012431322751609052 C1853736 Congenital Disorder Of Glycosylation, Type IIB -1 3026 -0.10998101304269846 C1853833 Parkinson Disease 6, Autosomal Recessive Early-Onset -1 3026 -0.22149874484413395 C1853892 Dimethylglycine Dehydrogenase Deficiency -1 3026 5.228539397328369e-06 C1854021 Cataract, Central Saccular, With Sutural Opacities -1 3026 -0.40779014098211896 C1854106 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT -1 3026 -0.02205941932080388 C1854273 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia -1 3026 -0.02177667006585524 C1854336 PARAGANGLIOMAS 3 -1 3026 -0.5317014398421962 C1854369 Spinocerebellar ataxia 14 -1 3026 -0.2877208793814528 C1854380 NEMALINE MYOPATHY 5 -1 3026 -0.018198055947788706 C1854466 Temtamy preaxial brachydactyly syndrome -1 3026 -0.03756595911260053 C1854488 Spinocerebellar ataxia 13 -1 3026 -0.08166259760536049 C1854568 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.0433694499585171 C1854630 Growth Deficiency and Mental Retardation with Facial Dysmorphism -1 3026 -0.3263809761172282 C1854631 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy -1 3026 -0.38627585250657015 C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE -1 3026 -0.5261728477488637 C1854896 Mucolipidosis III Gamma -1 3026 -0.040188574304006054 C1854989 Molybdenum Cofactor Deficiency, Complementation Group B -1 3026 -0.251158182553317 C1854990 Molybdenum Cofactor Deficiency, Complementation Group C -1 3026 -0.07083072615983947 C1855033 Mitochondrial myopathy with lactic acidosis -1 3026 -0.059978983460233476 C1855081 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 -1 3026 -0.02266277739414699 C1855100 Methylmalonyl-CoA Epimerase Deficiency -1 3026 -0.11177509144944799 C1855102 Methylmalonic aciduria cblB type -1 3026 -0.2766832544300233 C1855109 Methylmalonic aciduria cblA type -1 3026 -0.2766832544300233 C1855128 Methylcobalamin Deficiency, CblG Type -1 3026 -0.29557346347674407 C1855179 CATARACT, ANTERIOR POLAR -1 3026 -0.4552496158767856 C1855188 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa -1 3026 -0.10670019091888361 C1855229 Spondylometaphyseal dysplasia, Sedaghatian type -1 3026 -0.23674579682651622 C1855304 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 -1 3026 3.1329366762866684e-05 C1855496 Contiguous gene syndrome -1 3026 -0.6640681854900445 C1855523 Leg, Absence Deformity of, with Congenital Cataract -1 3026 0.0 C1855548 Laron syndrome type 2 -1 3026 -0.04943235126151926 C1855553 Pyruvate Dehydrogenase E3-Binding Protein Deficiency -1 3026 -0.06326821016862441 C1855565 Pyruvate Dehydrogenase E2 Deficiency -1 3026 -0.0599502568281756 C1855663 Kaufman oculocerebrofacial syndrome -1 3026 0.00043757081393758224 C1855675 Arima syndrome -1 3026 -0.37718747065428976 C1855705 Jejunal Atresia with Microcephaly and Ocular Anomalies -1 3026 -0.010225577922295948 C1855733 Neuronal intestinal pseudoobstruction -1 3026 -0.6870075780783295 C1855841 Hypocalcemic seizures -1 3026 -0.5075175581859643 C1855849 Bartter syndrome, antenatal , type 2 -1 3026 -0.5086897179215949 C1855861 Glycogen Storage Disease 0, Liver -1 3026 -0.27669818407811775 C1856053 Hydranencephaly with Renal Aplasia-Dysplasia -1 3026 -0.10485128852315889 C1856057 Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type -1 3026 -0.43933632389023464 C1856113 Mowat-Wilson syndrome -1 3026 -0.04317153536524871 C1856245 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II -1 3026 -0.41844022961424554 C1856255 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative -1 3026 -0.48991280992423125 C1856266 Coronal craniosynostosis -1 3026 -0.4078059962967881 C1856603 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to -1 3026 -0.2857839663322518 C1856718 Fleck Retina, Familial Benign -1 3026 0.0 C1856892 Facial Dysmorphism with Multiple Malformations -1 3026 -0.7068734266759706 C1856897 Eunuchoidism, familial hypogonadotropic -1 3026 -0.3530415566689009 C1856934 Epidermolysis bullosa with pyloric atresia -1 3026 -0.44303263570584356 C1857093 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.1046478027018461 C1857242 Rhizomelic chondrodysplasia punctata, type 2 -1 3026 -0.04661679037648194 C1857277 Donnai-Barrow syndrome -1 3026 -0.22826699839819245 C1857316 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY -1 3026 -0.21448531899925077 C1857344 Split-Hand-Foot Malformation With Sensorineural Hearing Loss -1 3026 -0.020852880775870653 C1857355 Leigh syndrome , French Canadian type -1 3026 -0.09608653964098629 C1857586 CONOTRUNCAL HEART MALFORMATIONS (disorder) -1 3026 -0.40625958355905195 C1857618 Achromatopsia 2 -1 3026 -0.37803142527618044 C1857682 Combined Oxidative Phosphorylation Deficiency 4 -1 3026 -0.07587338585310624 C1857719 Anemia, Diamond-Blackfan, 3 -1 3026 -0.20880413740206488 C1857743 LEBER CONGENITAL AMAUROSIS 12 (disorder) -1 3026 -0.11763139212378268 C1857744 DEAFNESS, AUTOSOMAL RECESSIVE 59 -1 3026 -0.5903125440588881 C1857761 Alagille Syndrome 2 -1 3026 -0.918775942613093 C1857775 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism -1 3026 -0.35441093317548006 C1857798 Immunodeficiency due to Defect in CD3-Zeta -1 3026 -0.30401173861871045 C1857802 MORM syndrome -1 3026 -0.32504260329342655 C1857809 DEAFNESS, AUTOSOMAL RECESSIVE 44 -1 3026 0.00011019283746560582 C1857811 DEAFNESS, AUTOSOMAL RECESSIVE 49 -1 3026 -0.028591573502578075 C1857853 Cataract, Congenital Nuclear, Autosomal Recessive 2 -1 3026 -0.2549118125807968 C1857855 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT -1 3026 -0.0448150982904677 C1857941 Brooke-Spiegler syndrome -1 3026 -0.07099947378969494 C1857970 Hypobetalipoproteinemia, Familial, 2 -1 3026 -0.45112949099442395 C1858028 WOLFRAM SYNDROME 2 -1 3026 -0.6043507016373755 C1858051 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS -1 3026 -0.05591622350812962 C1858080 Retinal Dystrophy, Early Onset Severe -1 3026 -0.7063333605591683 C1858106 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) -1 3026 -0.22349516177718198 C1858108 Microcephaly, Primary Autosomal Recessive, 3 -1 3026 0.00010913448262550585 C1858301 LEBER CONGENITAL AMAUROSIS 5 -1 3026 -0.5772352734449888 C1858302 Ectodermal dysplasia/ skin fragility syndrome -1 3026 -0.21302638191502182 C1858351 SPINOCEREBELLAR ATAXIA 11 -1 3026 -0.15888164092430854 C1858501 Spinocerebellar Ataxia 12 -1 3026 -0.16170458294791662 C1858516 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.07163467882276732 C1858664 HEMOCHROMATOSIS, TYPE 3 -1 3026 -0.32895688196133477 C1858680 Familial encephalopathy with neuroserpin inclusion bodies -1 3026 -0.1983118927841506 C1858723 Poikiloderma with Neutropenia -1 3026 -0.21274299022627557 C1858805 Vohwinkel Syndrome, Variant Form -1 3026 -0.10951273081055993 C1858968 Autoimmune Lymphoproliferative Syndrome, Type IIA -1 3026 -0.1744342897364153 C1859148 Chondrodysplasia, blomstrand type -1 3026 -0.999602956423516 C1859158 Laryngeal calcification -1 3026 -0.7065698597984719 C1859209 Klippel Feil syndrome recessive type -1 3026 -0.1181910821011889 C1859298 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 -1 3026 -0.027072241691581473 C1859372 Calcification of Joints and Arteries -1 3026 -0.034957592255849886 C1859405 Bowen-Conradi syndrome -1 3026 -0.09418923553798286 C1859499 3-methylcrotonyl CoA carboxylase 2 deficiency -1 3026 -0.2424517297017744 C1859518 Beta-Aminoisobutyric Acid, Urinary Excretion of -1 3026 -0.0026246902461380837 C1859565 BARDET-BIEDL SYNDROME 7 -1 3026 -0.0740153640307673 C1859567 BARDET-BIEDL SYNDROME 9 -1 3026 -0.1835893493265529 C1859568 BARDET-BIEDL SYNDROME 10 -1 3026 -0.168532891051895 C1859570 BARDET-BIEDL SYNDROME 12 -1 3026 -0.072029600607936 C1859726 ARTERIAL TORTUOSITY SYNDROME -1 3026 -0.13252667686895325 C1860105 Severe short-limb dwarfism -1 3026 -0.44610855210388317 C1860787 DOWN SYNDROME CRITICAL REGION -1 3026 -0.18727338011547948 C1861172 Venous Thromboembolism -1 3026 -0.5555983391767013 C1861185 THROMBOCYTOPENIA 2 (disorder) -1 3026 -0.1171155088049675 C1861235 Forebrain Defects -1 3026 -0.2305910497432787 C1861678 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 -1 3026 -0.2529331591566099 C1861696 EAR WAX, WET/DRY -1 3026 -0.011218122389803041 C1861736 SPINOCEREBELLAR ATAXIA 31 (disorder) -1 3026 -0.0779785685299853 C1861825 CATARACT, POSTERIOR POLAR, 1 -1 3026 -0.22012325364821422 C1861884 Familial Sudden Death -1 3026 -0.028464689252202913 C1861975 Cafe au lait spots, multiple -1 3026 -0.3397344908355927 C1862140 Brachydactyly type A3 -1 3026 -0.34520206391801933 C1862170 Brachydactyly with hypertension -1 3026 -0.11972432818778776 C1862177 Diaphyseal medullary stenosis with malignant fibrous histiocytoma -1 3026 -0.0665065529668169 C1862932 ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) -1 3026 -0.49925219758522116 C1863389 Apert-Crouzon Disease -1 3026 -0.8421836537123771 C1863416 Autosomal dominant compelling helio ophthalmic outburst syndrome -1 3026 -0.0646021341536187 C1863599 Hereditary Myopathy with Early Respiratory Failure -1 3026 -0.9987693809050282 C1863634 Cone-Rod Dystrophy 7 -1 3026 -0.17144579942969315 C1863688 Xanthinuria, Type II -1 3026 -0.0685162125850729 C1863728 Hemophagocytic lymphohistiocytosis, familial, 4 -1 3026 -0.35154228271617544 C1863732 Spondyloepimetaphyseal dysplasia with multiple dislocations -1 3026 -0.06322750890145033 C1863753 LIMB-MAMMARY SYNDROME -1 3026 -0.9925157766882226 C1863926 GLAUCOMA 1, OPEN ANGLE, F (disorder) -1 3026 -0.06561447404765945 C1864205 Macular Degeneration, Age-Related, 1 -1 3026 -0.3153481417914166 C1864233 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) -1 3026 -0.03630581723567933 C1864446 Retinitis Pigmentosa 25 -1 3026 -0.0919577776565884 C1864621 RETINITIS PIGMENTOSA 36 -1 3026 -0.06008371568613865 C1864652 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate -1 3026 -0.05403767017041692 C1864663 HYPOMYELINATION AND CONGENITAL CATARACT -1 3026 -0.02284516777072056 C1864668 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 -1 3026 -0.10832395006961654 C1864723 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency -1 3026 -0.11618926571547676 C1864761 Thyroid Hormone Metabolism, Abnormal -1 3026 -0.27463454507033624 C1864818 DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) -1 3026 -0.02873255508792342 C1864839 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder) -1 3026 -0.030157624921194264 C1864843 Combined Oxidative Phosphorylation Deficiency 2 -1 3026 -0.07697289622471377 C1864849 RETINAL CONE DYSTROPHY 4 -1 3026 -0.1580379949458281 C1864872 Spondyloepimetaphyseal dysplasia, Genevieve type -1 3026 -0.017965978941648413 C1864903 Hyperinsulinemic hypoglycemia -1 3026 -0.5830822393792459 C1864908 Cataract, autosomal recessive congenital 2 -1 3026 -0.2202092506821629 C1864910 Glutamine deficiency, congenital -1 3026 -0.49991792687363956 C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency -1 3026 -0.020417293323013747 C1864947 Natural Killer Cell Deficiency, Familial Isolated -1 3026 -0.032234954499093964 C1865145 Congenital disorder of glycosylation type 1B -1 3026 -0.2883092539013612 C1865185 Spondyloepimetaphyseal Dysplasia, Shohat Type -1 3026 4.258083752872732e-05 C1865233 Muscular Dystrophy, Congenital, Megaconial Type -1 3026 -0.1729062377634082 C1865267 Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly -1 3026 0.0001524746727584736 C1865286 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA -1 3026 0.0 C1865349 Ethylmalonic encephalopathy -1 3026 -0.06000363326171307 C1865361 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES -1 3026 -0.053999098611244876 C1865366 Deafness, Autosomal Dominant 15 -1 3026 6.957222785186623e-05 C1865596 Desmosterolosis -1 3026 -0.4469625940584564 C1865794 RHYNS syndrome -1 3026 -0.012043004585094165 C1865868 ALZHEIMER DISEASE 5 -1 3026 0.0 C1865871 HEMANGIOMA, CAPILLARY INFANTILE -1 3026 -0.320081820931717 C1866029 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma -1 3026 -0.06046474488304573 C1866039 EPISODIC ATAXIA, TYPE 5 -1 3026 -0.4787896503243298 C1866053 Deafness, Congenital Heart Defects, and Posterior Embryotoxon -1 3026 -0.8132786924299005 C1866078 Cataract, Zonular Pulverulent 3 -1 3026 -0.22010476342127175 C1866091 Left-Right Axis Malformations -1 3026 -0.2305910497432787 C1866094 DEAFNESS, AUTOSOMAL RECESSIVE 15 -1 3026 -0.0036976420925467473 C1866282 CEROID LIPOFUSCINOSIS, NEURONAL, 6 -1 3026 -0.31973953560074797 C1866552 PARAGANGLIOMAS 2 (disorder) -1 3026 -0.31504536980295 C1866558 Neural tube defect, folate-sensitive -1 3026 -0.633136419434889 C1866559 Spina Bifida, Folate-Sensitive -1 3026 -0.8300734981577439 C1866994 Ulnar-mammary syndrome -1 3026 -0.11946442463278525 C1867020 SCALP-EAR-NIPPLE SYNDROME -1 3026 -0.06324580150637282 C1867300 RETINITIS PIGMENTOSA 9 -1 3026 -0.07643027068200416 C1867438 PTOSIS, HEREDITARY CONGENITAL 1 (disorder) -1 3026 0.0 C1867439 Pterygium, Antecubital -1 3026 -0.29494460794917166 C1867743 Premature coronary artery disease -1 3026 -0.7796525871160586 C1867982 KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE II -1 3026 -0.112753925337018 C1868118 Orofaciodigital syndrome 5 -1 3026 -0.014907119849998596 C1868251 Neonatal alloimmune thrombocytopenia (NAIT) -1 3026 -0.48892917488430465 C1868653 Pancreatitis, Calcific -1 3026 -0.7528758318581483 C1868672 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE -1 3026 -0.6077768370355396 C1868675 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE -1 3026 -0.7970393478515487 C1868773 Diabetic encephalopathy -1 3026 -0.47628680883348207 C1876165 Copper-Overload Cirrhosis -1 3026 -0.6424517390852426 C1876185 Dysgnathia complex -1 3026 -0.39628472050949265 C1876214 ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT -1 3026 -0.6809404845096803 C1883018 Severe Aplastic Anemia -1 3026 -0.6571369815190932 C1955869 Malformations of Cortical Development -1 3026 -0.3454227114433748 C1956257 Pulmonary Stenosis -1 3026 -0.36599499582932615 C1956411 Double Outlet Right Ventricle, Subaortic VSD -1 3026 -0.4503259709391533 C1963946 Laryngeal dystonia -1 3026 -0.5734134816138262 C1968602 Surfactant Metabolism Dysfunction, Pulmonary, 1 -1 3026 -0.5098281572776564 C1968619 Renal corticomedullary cysts -1 3026 -0.3904492098836309 C1968689 Hyper-Immunoglobulin E Syndrome, Autosomal Recessive -1 3026 -0.8259094233798814 C1968949 Cakut -1 3026 -0.17930789795243512 C1969029 Lissencephaly 3 -1 3026 -0.033019829595051876 C1969054 Glycogen Storage Disease 0, Muscle -1 3026 -0.011764386367943205 C1969060 Premature Ovarian Failure 5 -1 3026 -0.018106199693671263 C1969063 Cavitary Optic Disc Anomalies -1 3026 1.8748670150836588e-06 C1969086 Tyrosine Kinase 2 Deficiency -1 3026 -0.22285488189957847 C1969092 NEPHRONOPHTHISIS 7 -1 3026 -0.1434760087382961 C1969372 Tubulointerstitial fibrosis -1 3026 -0.2753161146669618 C1969621 DEAFNESS, AUTOSOMAL RECESSIVE 63 -1 3026 -0.028713293185149175 C1969623 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME -1 3026 -0.11318344622538104 C1969655 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 -1 3026 -0.38377294026241826 C1969657 Atrial Septal Defect 4 -1 3026 -0.014035174127525685 C1969665 MYCOBACTERIUM TUBERCULOSIS, PROTECTION AGAINST -1 3026 -0.2978593897212061 C1969796 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.1375482050207542 C1969799 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation -1 3026 -0.02735099015579645 C1969809 Isobutyryl-CoA dehydrogenase deficiency -1 3026 -0.013796022806045206 C1969893 Mental Retardation, Fra12a Type -1 3026 3.9522983459439054e-05 C1970005 Asphyxiating Thoracic Dystrophy 2 -1 3026 -0.23223780249555476 C1970009 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE -1 3026 -0.0433694499585171 C1970095 Cleft Palate, Isolated, And Mental Retardation -1 3026 -0.041471351062953285 C1970107 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT -1 3026 -0.10036344863959511 C1970173 Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of -1 3026 -0.1090483993170289 C1970197 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 -1 3026 -0.00039800960337676197 C1970198 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 -1 3026 -0.006608855581917705 C1970199 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 -1 3026 -0.01622685151876238 C1970203 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy -1 3026 -0.10751203729095628 C1970207 Inflammatory Bowel Disease 10 -1 3026 -0.14146694019804756 C1970209 Alzheimer Disease 12 -1 3026 -0.1078196621843617 C1970237 Microphthalmia, Isolated 3 -1 3026 -0.12598815766974247 C1970238 Episodic Kinesigenic Dyskinesia 2 -1 3026 -0.00767857577470521 C1970239 DEAFNESS, AUTOSOMAL RECESSIVE, 24 -1 3026 -0.06329198284793162 C1970291 Tooth Agenesis, Selective, 3 -1 3026 0.0 C1970298 Progressive Familial Heart Block, Type Ib -1 3026 -0.014683323728871848 C1970344 Congenital Disorder Of Glycosylation, Type IIF -1 3026 -0.14971386808609308 C1970458 Osteogenesis imperfecta, type VIII -1 3026 -0.22645534766049752 C1970483 Vesicoureteral Reflux 2 -1 3026 0.00026990495426248984 C1970506 CILIARY DYSKINESIA, PRIMARY, 6 -1 3026 -0.12668491288870243 C1970822 Mental Retardation, X-Linked, Syndromic 14 -1 3026 0.00017914459715229203 C1970841 MENTAL RETARDATION, X-LINKED 93 (disorder) -1 3026 -0.4183426439152908 C1998028 Photoreceptor degeneration -1 3026 -0.5451387235630005 C2020284 Stickler syndrome, type 1 -1 3026 -0.6276519781115829 C2076600 Influenza due to Influenza A virus subtype H1N1 -1 3026 -0.16518039493543804 C2118460 Acute colitis -1 3026 -0.522942345006484 C2239351 DEAFNESS, AUTOSOMAL RECESSIVE 74 -1 3026 -0.028681606474339285 C2243051 Large head (disorder) -1 3026 -0.3147674622397908 C2267233 Neonatal Hypotonia -1 3026 -0.2346041046600547 C2315100 Pediatric failure to thrive -1 3026 -0.22019870065919125 C2350038 Molar Incisor Hypomineralization -1 3026 0.0 C2350236 Idiopathic Interstitial Pneumonias -1 3026 -0.6747330952005518 C2350344 Chronic Lung Injury -1 3026 -0.2957042306669105 C2350873 Beryllium Disease -1 3026 -0.3657769099711827 C2362320 Subacute cutaneous lupus -1 3026 -0.2745658261284346 C2363741 HIV-1 infection -1 3026 -0.24387402547412845 C2363755 Acquired Protein S Deficiency -1 3026 -0.1940371021870395 C2607914 Allergic rhinitis (disorder) -1 3026 -0.5343973119417935 C2673193 Brugada Syndrome 2 -1 3026 -0.05980306982563197 C2673198 Familial Cold Autoinflammatory Syndrome 2 -1 3026 -0.08251864982710455 C2673257 EPILEPSY, PROGRESSIVE MYOCLONIC 3 -1 3026 -0.026121470052178762 C2673427 METHEMOGLOBINEMIA TYPE IV -1 3026 -0.17734154848115813 C2673642 Combined Oxidative Phosphorylation Deficiency 5 -1 3026 -0.04516491601684603 C2673874 BARDET-BIEDL SYNDROME 14 (disorder) -1 3026 -0.7068507791505436 C2673922 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 -1 3026 -0.005573518371288898 C2675179 Arginine:Glycine Amidinotransferase Deficiency -1 3026 -0.09975278304558888 C2675184 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis -1 3026 -0.11787671278005449 C2675187 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) -1 3026 0.00011077710240892102 C2675192 Spherocytosis, Type 5 -1 3026 -0.3628173357235861 C2675204 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract -1 3026 -0.07782170482496811 C2675211 EPISODIC ATAXIA, TYPE 6 (disorder) -1 3026 -0.18038279857921843 C2675227 Endocrine-Cerebroosteodysplasia -1 3026 -0.07209152853799493 C2675228 CILIARY DYSKINESIA, PRIMARY, 12 -1 3026 -0.2546742204099671 C2675229 CILIARY DYSKINESIA, PRIMARY, 11 -1 3026 -0.12632553429951163 C2675463 Chromosome 15q26-Qter Deletion Syndrome -1 3026 -0.008303797468248388 C2675473 Mental Retardation, Autosomal Dominant 5 -1 3026 -0.4065683822812995 C2675487 Mental Retardation, Autosomal Dominant 4 -1 3026 -0.4066303072050916 C2675488 Mental Retardation, Autosomal Dominant 3 -1 3026 -0.40661338170813427 C2675496 Retinitis Pigmentosa 46 -1 3026 -0.06777013977587583 C2675508 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE -1 3026 -0.10292850087957897 C2675511 Diamond-Blackfan Anemia 8 -1 3026 -0.18924603580957328 C2675512 Diamond-Blackfan Anemia 7 -1 3026 -0.1961559525962738 C2675527 Myopathy, Congenital, Compton-North -1 3026 -0.06340764045674374 C2675858 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 -1 3026 0.0001411995631322993 C2675859 Diamond-Blackfan Anemia 5 -1 3026 -0.1878987061128412 C2675860 Diamond-Blackfan Anemia 4 -1 3026 -0.22125232442750292 C2675867 CILIARY DYSKINESIA, PRIMARY, 10 -1 3026 -0.25476884641544884 C2676023 Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant -1 3026 -0.018248661327305737 C2676231 Skeletal Defects, Genital Hypoplasia, And Mental Retardation -1 3026 -0.04040557482202615 C2676232 Complement Component 6 Deficiency -1 3026 -0.18569533817705186 C2676235 CILIARY DYSKINESIA, PRIMARY, 9 -1 3026 -0.20482633311595402 C2676254 Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia -1 3026 -0.20237621399262135 C2676281 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.0012687515512974645 C2676465 Pontocerebellar Hypoplasia Type 2C -1 3026 -0.46418910399599617 C2676466 Pontocerebellar Hypoplasia Type 2B -1 3026 -0.4689588314548477 C2676732 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) -1 3026 -0.0433694499585171 C2676739 Chromosome 2q32-Q33 Deletion Syndrome -1 3026 -0.06333841659763143 C2676742 Premature Ovarian Failure 6 -1 3026 -0.00723725608676904 C2676766 Osteopetrosis, Autosomal Recessive 7 -1 3026 -0.6698130971983498 C2676770 Birk-Barel Mental Retardation Dysmorphism Syndrome -1 3026 -0.27721983574606013 C2676771 JOUBERT SYNDROME 8 (disorder) -1 3026 -0.11420322370816223 C2676782 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 -1 3026 -0.04659819815002606 C2677065 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 -1 3026 -0.14437326276145626 C2677091 Inflammatory Bowel Disease 17 -1 3026 -0.18155815422187005 C2677092 MYD88 Deficiency -1 3026 -0.3240618661207675 C2677100 Inflammatory Bowel Disease 14 -1 3026 -0.4128558374962038 C2677106 Atrial Fibrillation, Familial, 7 -1 3026 -0.1983343059949366 C2677132 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) -1 3026 -0.15994123881268127 C2677481 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant -1 3026 -0.1455586088237666 C2677500 Oculoauricular Syndrome -1 3026 -0.09435998949595853 C2677567 DYSTONIA 16 (disorder) -1 3026 -0.36247124446063866 C2677590 Congenital Disorder Of Glycosylation, Type In -1 3026 -0.28298771810844836 C2677608 Thrombocytopenia 4 -1 3026 -0.31285695499661215 C2677637 Deafness, Autosomal Dominant 2A -1 3026 -0.005627035252665317 C2677897 SPASTIC PARAPLEGIA 34, X-LINKED (disorder) -1 3026 -0.0433694499585171 C2678045 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS -1 3026 -0.05689250013204228 C2678046 Mental Retardation, X-Linked, Syndromic, Turner Type -1 3026 -0.02841367940964328 C2678098 Hypospadias 1, X-Linked -1 3026 -0.8821135575355056 C2678311 Thrombocytopenia 3 -1 3026 5.561394304187672e-05 C2678408 PITUITARY HORMONE DEFICIENCY, COMBINED, 4 -1 3026 -0.20228484668186253 C2678468 Amyotrophic Lateral Sclerosis 9 -1 3026 -0.1655069321949456 C2678473 CILIARY DYSKINESIA, PRIMARY, 7 (disorder) -1 3026 -0.14691547145177525 C2678477 Brugada Syndrome 4 -1 3026 -0.06876243013137588 C2678480 Chromosome 22q11.2 Deletion Syndrome, Distal -1 3026 -0.19358259334381595 C2678483 Long Qt Syndrome 11 -1 3026 -0.1900490096761415 C2678484 Long Qt Syndrome 10 -1 3026 -0.23688289607250393 C2678497 Elliptocytosis 1 -1 3026 -0.01605449458730444 C2681923 RETINITIS PIGMENTOSA 2 (disorder) -1 3026 -0.07870100492646241 C2698259 Monoclonal B-Cell Lymphocytosis -1 3026 -0.8508506206970154 C2712907 obsolete Combined hyperlipidemia -1 3026 -0.46639924610091005 C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis -1 3026 -0.6907838659102689 C2718067 Alcoholic Steatohepatitis -1 3026 -0.4632418663842445 C2733158 Cerebral Small Vessel Diseases -1 3026 -0.7733977681310487 C2746066 Combined D-2- and L-2-hydroxyglutaric aciduria -1 3026 -0.45982365163954975 C2746083 DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) -1 3026 -0.014371376624333854 C2748536 Leukocyte Adhesion Deficiency, Type III -1 3026 -0.28570820214592096 C2748572 SeSAME syndrome -1 3026 -0.4150491308690485 C2748662 Mitchell-Riley Syndrome -1 3026 -0.011624994536585446 C2748884 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC -1 3026 -0.7061157538450419 C2749020 Mental Retardation, X-Linked, Znf711-Related -1 3026 -0.5666492029166786 C2749757 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 -1 3026 -0.5706019563718929 C2749864 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) -1 3026 -0.18870053975449458 C2749936 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) -1 3026 -0.10854110424716269 C2750066 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia -1 3026 6.971430985780458e-05 C2750069 Lipodystrophy, Congenital Generalized, Type 4 -1 3026 -0.2682767148781494 C2750075 Chondrodysplasia, Megarbane-Dagher-Melki Type -1 3026 -0.055040251265909945 C2750079 Exudative Vitreoretinopathy 5 -1 3026 -0.23385836493052214 C2750081 Diamond-Blackfan Anemia 9 -1 3026 -0.2410794487514323 C2750082 Deafness, Autosomal Recessive 79 -1 3026 -0.028680153057542686 C2750087 Bile Acid Malabsorption, Primary -1 3026 -0.05577155298310686 C2750355 Omodysplasia 2 -1 3026 -0.043034887982559 C2750442 Hypermanganesemia with Dystonia Polycythemia and Cirrhosis -1 3026 -0.47452184485808374 C2750457 Waardenburg Syndrome, Type 4b -1 3026 -0.3499931308653659 C2750747 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C -1 3026 -0.237986742581774 C2750771 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 -1 3026 -0.046212780277682504 C2750786 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency -1 3026 -0.052342618875982024 C2750790 CILIARY DYSKINESIA, PRIMARY, 13 -1 3026 -0.12659775909471407 C2750791 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 -1 3026 -0.03740623899787365 C2750798 Polymicrogyria With Optic Nerve Hypoplasia -1 3026 -0.016891083876383772 C2750804 Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities -1 3026 -0.2876885025746013 C2750995 Cardiomyopathy, Dilated, 1DD -1 3026 -0.10201696135635387 C2751053 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE -1 3026 -0.03781621830227158 C2751088 Brugada Syndrome 7 -1 3026 -0.7070601160339979 C2751089 Brugada Syndrome 6 -1 3026 -0.18223209910909252 C2751092 Neuropathy, Hereditary Sensory And Autonomic, Type IIB -1 3026 -0.6541713784581085 C2751259 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related -1 3026 -0.0023845628019788377 C2751260 Macrothrombocytopenia -1 3026 -0.5547700784327234 C2751292 Hypotrichosis And Recurrent Skin Vesicles -1 3026 1.291233655109636e-06 C2751293 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 -1 3026 -0.4171756606301403 C2751294 GLAUCOMA 1, OPEN ANGLE, O -1 3026 -0.056185847324467346 C2751315 Atrial Septal Defect 6 -1 3026 2.7438862344908443e-05 C2751317 46, XY Sex Reversal 5 -1 3026 -0.16886003423368645 C2751320 Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay -1 3026 -0.12344521145774671 C2751324 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 -1 3026 -0.5886256969467939 C2751325 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy -1 3026 -0.25971705981137827 C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency -1 3026 -0.02044500888602409 C2751584 Neurodegeneration Due To Cerebral Folate Transport Deficiency -1 3026 -0.4338365466295257 C2751666 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 -1 3026 -0.32736760919258834 C2751805 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT -1 3026 -0.36080127712874505 C2751812 OPTIC ATROPHY 7 (disorder) -1 3026 -0.16663212273365685 C2751822 Cataract, Autosomal Recessive Congenital 3 -1 3026 -0.17947897766563348 C2751826 Multiple Synostoses Syndrome 3 -1 3026 -0.43345118427838175 C2751830 Long Qt Syndrome 12 -1 3026 -0.17570592399951815 C2751843 Leukoencephalopathy, Cystic, Without Megalencephaly -1 3026 -0.16201992500590853 C2751855 Hypomyelination, Global Cerebral -1 3026 -0.027244066450363064 C2751938 Cerebral Palsy, Spastic Quadriplegic, 1 -1 3026 -0.4066496135495945 C2752007 Congenital Disorder of Glycosylation, Type Io -1 3026 -0.3115448538070992 C2752008 Spastic Paraplegia-50, Autosomal Recessive -1 3026 -0.08939114003179188 C2752015 Glycogen Storage Disease XIV -1 3026 -0.3156159332071938 C2752061 Cerebral Palsy, Spastic Quadriplegic, 2 -1 3026 -0.07356136430489621 C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C -1 3026 -0.27377134943073783 C2827407 Infectious Otitis Media -1 3026 -0.47182286547628893 C2828721 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE -1 3026 -0.10546970267342935 C2829267 DEAFNESS, AUTOSOMAL RECESSIVE 88 -1 3026 1.5738087206007556e-05 C2919365 Macroalbuminuric diabetic nephropathy -1 3026 -0.0223447394258898 C2919755 Testicular dysgenesis syndrome -1 3026 -0.009732693214994407 C2919828 Chronic ulcerative colitis -1 3026 -0.681770021717108 C2930471 Bilateral Wilms Tumor -1 3026 -0.20051897904813684 C2930922 Reginato Schiapachasse syndrome -1 3026 -0.8109655477045616 C2930974 Acute erythroleukemia -1 3026 0.00018223794834759666 C2930997 Congenital disorder of glycosylation type 1C -1 3026 -0.25394927368423664 C2931001 Congenital disorder of glycosylation type 1G -1 3026 -0.26710873639681537 C2931002 Congenital disorder of glycosylation type 1H -1 3026 -0.2603934584031296 C2931005 Congenital disorder of glycosylation type 1K -1 3026 -0.26032203680768823 C2931007 Congenital disorder of glycosylation type 1X -1 3026 -0.3156300146151411 C2931010 Congenital disorder of glycosylation type 2E -1 3026 -0.13001848668816196 C2931029 Nevi flammei, familial multiple -1 3026 -0.16000828705008 C2931071 Dianzani autoimmune lymphoproliferative syndrome -1 3026 -0.7063016576295053 C2931073 Collagenopathy, type 2 alpha 1 -1 3026 -0.7068574138353989 C2931189 Neural crest tumor -1 3026 -0.38638222130359906 C2931206 Usher syndrome, type 1B -1 3026 -0.7999297487731034 C2931278 Phosphoenolpyruvate carboxykinase 2 deficiency -1 3026 -0.02020248052054292 C2931290 Welander distal myopathy, Swedish type -1 3026 -0.09006344328429712 C2931364 Thrombocytopenia Robin sequence -1 3026 4.926088571599596e-05 C2931434 Paraquat lung -1 3026 -0.1296908587120959 C2931459 Lynch syndrome I (site-specific colonic cancer) -1 3026 -0.577206399586185 C2931480 Neurofibromatosis, Type 3, mixed central and peripheral -1 3026 -0.4996970663571466 C2931498 Mental Retardation, X-Linked 1 -1 3026 -0.42490909603269333 C2931501 Microphthalmia associated with colobomatous cyst -1 3026 -0.3986137067318159 C2931739 Hirschsprung disease type 3 -1 3026 -0.36440838272936277 C2931743 Lactate dehydrogenase deficiency type A -1 3026 -0.10784600286761882 C2931783 Amelogenesis imperfecta nephrocalcinosis -1 3026 -0.17495013710219895 C2931788 Atypical Hemolytic Uremic Syndrome -1 3026 -0.3286487851425211 C2931817 Chromosome 2q37 deletion syndrome -1 3026 -0.24410691840792648 C2931820 Inclusion body myopathy, autosomal dominant -1 3026 -0.6633892451984433 C2931835 Hyperprolinemia type 2 -1 3026 -0.19956067964629698 C2931837 Familial hypertryptophanemia -1 3026 0.0 C2931844 Spinal muscular atrophy 4 -1 3026 -0.6988750717351198 C2931870 Familial schizencephaly -1 3026 -0.6847608415429923 C2931876 Hirschsprung disease 1 -1 3026 -0.40131676191699717 C2936793 Spinocerebellar ataxia 30 -1 3026 0.0 C2936860 Spastic paraplegia 25, autosomal recessive -1 3026 -0.0433694499585171 C2936864 Bardet-Biedl syndrome 4 (disorder) -1 3026 -0.23307219102090793 C2936879 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT -1 3026 -0.0433694499585171 C2936880 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) -1 3026 -0.0433694499585171 C2937228 Tunnel visual field constriction -1 3026 -0.3323870490547638 C2945695 Limb ischemia -1 3026 -0.5123147711294047 C2986703 Overgrowth Syndrome -1 3026 -0.6292228468470069 C3147083 DEAFNESS, AUTOSOMAL RECESSIVE 76 -1 3026 4.86988141313871e-05 C3149237 MEN1 SOMATIC MUTATIONS -1 3026 -0.6328036215137466 C3150207 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE -1 3026 -0.30258936048674323 C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 -1 3026 -0.578579513142247 C3150419 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 -1 3026 -0.06841433133817165 C3150619 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC -1 3026 -0.1897205816158962 C3150649 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM -1 3026 -0.021817647245687827 C3150653 FANCONI ANEMIA, COMPLEMENTATION GROUP O -1 3026 -0.2174776158740713 C3150654 DEAFNESS, AUTOSOMAL RECESSIVE 84A -1 3026 0.00011003277107024534 C3150657 BIRBECK GRANULE DEFICIENCY -1 3026 0.0 C3150658 WARSAW BREAKAGE SYNDROME -1 3026 -0.007513833378916353 C3150678 OGUCHI DISEASE 2 -1 3026 -0.1045436271947468 C3150691 RETINITIS PIGMENTOSA 54 -1 3026 -0.07775688272519882 C3150704 DEAFNESS, AUTOSOMAL RECESSIVE 91 -1 3026 -0.012462315561253804 C3150706 FRONTONASAL DYSPLASIA 3 -1 3026 7.213814553252984e-05 C3150731 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 -1 3026 -0.44639782172537296 C3150736 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj -1 3026 -0.11280547885327497 C3150741 IMMUNODEFICIENCY, COMMON VARIABLE, 6 -1 3026 -0.2760038425331135 C3150750 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE -1 3026 -0.3000068680731097 C3150757 MICROPHTHALMIA, ISOLATED 6 -1 3026 -0.15903638774044285 C3150821 RETINITIS PIGMENTOSA 57 -1 3026 -0.09579836970687652 C3150875 CHOANAL ATRESIA AND LYMPHEDEMA -1 3026 -0.09799568225361238 C3150879 RETINITIS PIGMENTOSA 58 -1 3026 -0.07632847928665847 C3150889 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 -1 3026 -0.4985021167074024 C3150896 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC -1 3026 -0.49949202861560715 C3150900 METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT -1 3026 -0.048175506856184734 C3150901 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE -1 3026 -0.09698750827928979 C3150902 C1q DEFICIENCY -1 3026 -0.14049501120512584 C3150913 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip -1 3026 -0.27418000751071514 C3150921 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY -1 3026 -0.0169259982247317 C3150924 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS -1 3026 0.0 C3150925 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE -1 3026 -0.04320794959953613 C3150926 Congenital dyserythropoietic anemia type IV -1 3026 -0.2918682605024321 C3150927 VESICOURETERAL REFLUX 3 -1 3026 -0.16741919320843834 C3150939 BEAULIEU-BOYCOTT-INNES SYNDROME -1 3026 0.00020032625698207518 C3150941 RUBINSTEIN-TAYBI SYNDROME 2 -1 3026 -0.21419914542148896 C3150986 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 -1 3026 -0.9270805060926667 C3150990 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY -1 3026 -0.5178423862009557 C3150998 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 -1 3026 -0.156681793955636 C3151000 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS -1 3026 -0.005791205722820087 C3151036 CHROMOSOME 1p32-p31 DELETION SYNDROME -1 3026 -0.005459048327181496 C3151059 RETINITIS PIGMENTOSA 49 -1 3026 -0.08730415344716341 C3151061 RETINITIS PIGMENTOSA 47 -1 3026 -0.30612267767201284 C3151062 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS -1 3026 -0.7070849465274546 C3151064 46,XY SEX REVERSAL 6 -1 3026 -0.30140919056095655 C3151066 RETINITIS PIGMENTOSA 45 -1 3026 -0.08672981366055992 C3151070 MACULAR DEGENERATION, AGE-RELATED, 8 -1 3026 -0.229112059337099 C3151077 AORTIC ANEURYSM, FAMILIAL THORACIC 7 -1 3026 -0.2837169517084649 C3151079 MACULAR DEGENERATION, AGE-RELATED, 12 -1 3026 -0.1024940651520622 C3151080 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II -1 3026 -0.5293952780180295 C3151081 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I -1 3026 -0.5293952780180295 C3151087 LOEYS-DIETZ SYNDROME 3 -1 3026 -0.42703056574522863 C3151097 MEIER-GORLIN SYNDROME 2 -1 3026 -0.2877034652413738 C3151113 MEIER-GORLIN SYNDROME 3 -1 3026 -0.2877034652413738 C3151120 MEIER-GORLIN SYNDROME 4 -1 3026 -0.1652914795304431 C3151126 MEIER-GORLIN SYNDROME 5 -1 3026 -0.2934490393659154 C3151136 CILIARY DYSKINESIA, PRIMARY, 14 -1 3026 -0.25274779663048896 C3151137 CILIARY DYSKINESIA, PRIMARY, 15 -1 3026 -0.17901353309434206 C3151139 RETINITIS PIGMENTOSA 43 -1 3026 -0.09661417934203448 C3151140 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D -1 3026 -0.14503592254540648 C3151187 SECKEL SYNDROME 5 -1 3026 -0.6752928059617022 C3151190 RETINITIS PIGMENTOSA 48 -1 3026 -0.0687132792536823 C3151192 LEBER CONGENITAL AMAUROSIS 7 -1 3026 -0.2587709193300612 C3151193 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D -1 3026 -0.23805767509550646 C3151204 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 -1 3026 -0.026321973627933426 C3151211 OSTEOGENESIS IMPERFECTA, TYPE X -1 3026 -0.16515195733800228 C3151226 FICOLIN 3 DEFICIENCY -1 3026 -0.28465915458353536 C3151227 RETINITIS PIGMENTOSA 59 -1 3026 -0.058734568863899064 C3151230 DEAFNESS, AUTOSOMAL RECESSIVE 61 -1 3026 -0.22771457458035418 C3151264 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 -1 3026 -0.07462392428457802 C3151266 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19 -1 3026 -0.05698028822981893 C3151268 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 -1 3026 -0.2685315780135374 C3151303 Obesity, Hyperphagia, and Developmental Delay -1 3026 -0.18865025688631673 C3151304 CATARACT 36 -1 3026 0.00020113444302594097 C3151343 SPINOCEREBELLAR ATAXIA 32 -1 3026 0.0 C3151405 CANDIDIASIS, FAMILIAL, 6 -1 3026 -0.37537166068210986 C3151407 SPERMATOGENIC FAILURE 9 -1 3026 -0.03922322702763681 C3151409 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III -1 3026 -0.14223584250744528 C3151421 CYANOSIS, TRANSIENT NEONATAL -1 3026 -0.09361198291675545 C3151433 OSTEOGENESIS IMPERFECTA, TYPE XII -1 3026 -0.31599914613680585 C3151434 RETINITIS PIGMENTOSA 60 -1 3026 -0.05873805356511268 C3151442 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 -1 3026 -0.14426275631855892 C3151446 NESTOR-GUILLERMO PROGERIA SYNDROME -1 3026 -0.055585391953904446 C3151460 CILIARY DYSKINESIA, PRIMARY, 16 -1 3026 -0.2546742204099671 C3151462 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 -1 3026 0.0 C3151463 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 -1 3026 -0.33760206586755864 C3151466 HEPATIC LIPASE DEFICIENCY (disorder) -1 3026 -0.31807811206732767 C3151857 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM -1 3026 -0.00898048713749643 C3160718 PARKINSON DISEASE, LATE-ONSET -1 3026 -0.3602032376582162 C3160738 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 -1 3026 -0.23859219403091536 C3160739 FANCONI ANEMIA, COMPLEMENTATION GROUP E -1 3026 -0.19139917059864978 C3160909 Autoimmune arthritis -1 3026 -0.41396635617264516 C3161650 Primary immunoglobulin A nephropathy (disorder) -1 3026 -0.01134309289819923 C3164271 Obstruction of aortic arch -1 3026 -0.45130053607055504 C3178801 Stroke, Lacunar -1 3026 -0.6172796520679049 C3266731 2-methyl-3-hydroxybutyric aciduria -1 3026 -0.06000255234377562 C3272797 Colon Serrated Polyposis -1 3026 0.0001101928374654948 C3273239 Proliferative Inflammatory Atrophy -1 3026 -0.3508144295301134 C3273254 Arterionephrosclerosis -1 3026 -0.7069356570934983 C3275406 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE -1 3026 4.8813980843886995e-05 C3275408 MENTAL RETARDATION, X-LINKED 96 -1 3026 -0.3674172873304183 C3275445 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia -1 3026 -0.08204524333386308 C3275447 OGDEN SYNDROME -1 3026 -0.0735759431116179 C3275459 AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA -1 3026 -0.06565773995552585 C3275464 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE -1 3026 -0.11482385046535255 C3275476 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA -1 3026 -0.16163737717944113 C3275495 KABUKI SYNDROME 2 -1 3026 -0.17443777490774318 C3275998 THROMBOCYTHEMIA 2 -1 3026 -0.5168301843907713 C3276161 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 -1 3026 -0.7018220223982542 C3276432 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 -1 3026 -0.25276229817503226 C3277059 Congenital Bilateral Cataracts -1 3026 -0.3774513046873079 C3277900 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 -1 3026 1.4581193103935242e-05 C3278152 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET (disorder) -1 3026 -0.7760458896275735 C3278384 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY -1 3026 -0.3011844962897117 C3278404 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS -1 3026 -0.2622947801572002 C3279092 LONG QT SYNDROME 2/5, DIGENIC (disorder) -1 3026 -0.7069549436445259 C3279627 EPILEPSY, PROGRESSIVE MYOCLONIC, 6 -1 3026 -0.1990599694271329 C3279660 DEAFNESS, AUTOSOMAL RECESSIVE 29 -1 3026 -0.22759898399725764 C3279661 alpha-2-Macroglobulin Deficiency -1 3026 -0.1807454834464612 C3279708 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 -1 3026 -0.032623286045309445 C3279716 N-ACETYLASPARTATE DEFICIENCY -1 3026 -0.0058254803769759445 C3279738 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE -1 3026 -0.09131424963049961 C3279743 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE -1 3026 -0.08951130843611023 C3279748 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 -1 3026 -0.027287028962618008 C3279756 HERMANSKY-PUDLAK SYNDROME 7 -1 3026 -0.20700147982817776 C3279757 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE -1 3026 0.00011513547992203499 C3279800 KEPPEN-LUBINSKY SYNDROME -1 3026 -0.157336044431657 C3279839 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 -1 3026 -0.5325190261161302 C3279840 Methylmalonate Semialdehyde Dehydrogenase Deficiency -1 3026 -0.2744912564970016 C3279841 Pyruvate Dehydrogenase E1-Beta Deficiency -1 3026 -0.7071067811865475 C3279842 MENTAL RETARDATION, AUTOSOMAL DOMINANT 2 -1 3026 -0.6150296675074424 C3279875 CORTICAL MALFORMATIONS, OCCIPITAL -1 3026 -0.17641734841645768 C3279902 CHITOTRIOSIDASE DEFICIENCY -1 3026 -0.33849067924493176 C3279904 Lactate Dehydrogenase B Deficiency -1 3026 0.0001301111351519335 C3279905 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 -1 3026 -0.18851769171911212 C3279948 DEAFNESS, AUTOSOMAL DOMINANT 64 -1 3026 -0.250795408186657 C3279964 HYPERBILIVERDINEMIA -1 3026 -0.06018856521066551 C3279997 MYOPIA 21, AUTOSOMAL DOMINANT -1 3026 5.852118467564171e-05 C3280011 BRITTLE CORNEA SYNDROME 2 -1 3026 -0.0892520065797115 C3280026 HERMANSKY-PUDLAK SYNDROME 9 -1 3026 -0.172771343243527 C3280031 JOUBERT SYNDROME 13 -1 3026 -0.13491692104125919 C3280042 RETINITIS PIGMENTOSA 62 -1 3026 -0.07832499694214395 C3280073 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES -1 3026 -0.028274013122065653 C3280095 MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME -1 3026 0.0 C3280100 NEPHROTIC SYNDROME, TYPE 6 -1 3026 -0.023913397062155273 C3280120 BLEEDING DISORDER, PLATELET-TYPE, 11 -1 3026 -0.009640058365737243 C3280127 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 -1 3026 -0.015770503446885988 C3280133 PARKINSON DISEASE 17 -1 3026 -0.2187511682006327 C3280153 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 -1 3026 -0.12007815282053373 C3280215 HOLOPROSENCEPHALY 11 -1 3026 -0.02036107016390966 C3280226 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 -1 3026 -0.1568266346943007 C3280240 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME -1 3026 -0.02724302454265636 C3280265 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 -1 3026 -0.04767312946227964 C3280271 PARKINSON DISEASE 18 -1 3026 -0.09343398577940225 C3280282 MENTAL RETARDATION, AUTOSOMAL DOMINANT 8 -1 3026 -0.40656654331960396 C3280284 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 -1 3026 -0.46323766409613576 C3280285 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 -1 3026 -0.46323766409613576 C3280315 Platelet-Activating Factor Acetylhydrolase Deficiency -1 3026 -0.12999816281628532 C3280346 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION -1 3026 0.0001133417856791219 C3280378 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA -1 3026 -0.060119992181311976 C3280381 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY -1 3026 -0.09756289035856651 C3280392 EDICT syndrome -1 3026 -0.00401005723687316 C3280471 OVARIAN DYSGENESIS 3 -1 3026 -0.04648123210211107 C3280489 FEINGOLD SYNDROME 2 -1 3026 -0.18229977888632792 C3280492 TUMOR PREDISPOSITION SYNDROME -1 3026 -0.1129491736552817 C3280501 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 -1 3026 -0.21280008272099749 C3280538 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 -1 3026 3.988040441338381e-05 C3280641 Decreased serum complement C4b -1 3026 -0.2347460307787757 C3280642 Complement Component 4a Deficiency -1 3026 -0.2003600763453831 C3280703 MYOPATHY, CENTRONUCLEAR, 3 -1 3026 -0.23936527139591776 C3280729 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES -1 3026 -0.16464690164684326 C3280742 SYSTEMIC LUPUS ERYTHEMATOSUS 16 -1 3026 -0.39652998568491654 C3280766 JOUBERT SYNDROME 14 -1 3026 -0.22847657664218804 C3280798 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB -1 3026 -0.6202559577837639 C3280866 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) -1 3026 -0.060145410247216854 C3280887 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES -1 3026 -0.060040554172009965 C3280906 JOUBERT SYNDROME 16 -1 3026 -0.04501150633711125 C3280953 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE -1 3026 -0.015463540228265371 C3280970 PORENCEPHALY 2 -1 3026 -0.5445667186497433 C3281029 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL -1 3026 -0.1661077065799844 C3281044 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY -1 3026 -0.0071028495877971665 C3281055 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM -1 3026 -0.1073972556905444 C3281160 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 -1 3026 -0.04619720925848871 C3281200 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS -1 3026 -0.02745126519469276 C3281215 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E -1 3026 -0.23792191651894865 C3281223 CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME -1 3026 -0.08519511685876646 C3281234 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 -1 3026 -0.04427447355075176 C3281236 DYSTONIA 21 -1 3026 0.0 C3281288 PREECLAMPSIA/ECLAMPSIA 5 -1 3026 -0.04626804658078043 C3281297 DEAFNESS, AUTOSOMAL DOMINANT 4B -1 3026 -0.1581006331227644 C3468041 FANCONI ANEMIA, COMPLEMENTATION GROUP C -1 3026 -0.2526152502190196 C3468114 Juvenile amyotrophic lateral sclerosis -1 3026 -0.44691963977329713 C3469526 FANCONI ANEMIA, COMPLEMENTATION GROUP F -1 3026 -0.20451245792831912 C3469527 fanconi anemia complementation group g -1 3026 -0.23034287421348115 C3469528 FANCONI ANEMIA, COMPLEMENTATION GROUP L -1 3026 -0.23047120897033707 C3469605 PSEUDOHYPOALDOSTERONISM, TYPE IID -1 3026 -0.3559135953795062 C3469606 PSEUDOHYPOALDOSTERONISM, TYPE IIE -1 3026 -0.031971175995346074 C3484357 HERMANSKY-PUDLAK SYNDROME 4 -1 3026 -0.20531982218575226 C3489787 Pituitary Hormone Deficiency, Combined, 3 -1 3026 -0.11858467866395106 C3495436 American cutaneous leishmaniasis -1 3026 -0.15366387419536903 C3495801 Granulomatosis with polyangiitis -1 3026 -0.6087050109551205 C3495919 Enthesitis-Related Arthritis -1 3026 -0.6546782400955613 C3501679 Bleeding Disorder due to Defective Thromboxane A2 Receptor -1 3026 -0.24828419107079336 C3502214 Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities -1 3026 -0.1979839027309337 C3502630 Myasthenic Syndrome due to Mutation in SCN4A -1 3026 -0.7067600621288139 C3539013 AICARDI-GOUTIERES SYNDROME 6 -1 3026 -0.5298930042028561 C3539494 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE -1 3026 -0.08954188521507173 C3539495 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE -1 3026 -0.1274133763158839 C3539507 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE -1 3026 -0.10169205689333814 C3539916 MYOCLONUS, FAMILIAL CORTICAL -1 3026 -0.33316379563447857 C3540450 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA -1 3026 -0.19387656613994544 C3540453 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F -1 3026 -0.2738338251590441 C3540844 CILIARY DYSKINESIA, PRIMARY, 20 -1 3026 -0.16050362130946355 C3541462 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA -1 3026 -0.3532742236242591 C3541853 NEPHRONOPHTHISIS 15 -1 3026 -0.1986199656056651 C3542022 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME -1 3026 -0.06330332806730196 C3542549 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE -1 3026 -0.7004119808023412 C3542550 CILIARY DYSKINESIA, PRIMARY, 17 -1 3026 -0.2546742204099671 C3543825 CILIARY DYSKINESIA, PRIMARY, 18 -1 3026 -0.16045303316663492 C3543826 CILIARY DYSKINESIA, PRIMARY, 19 -1 3026 -0.1603793069476822 C3550478 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA -1 3026 -0.38977304737313856 C3550875 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 -1 3026 0.0 C3550913 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 -1 3026 -0.02316344474350257 C3550921 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 -1 3026 -0.42088984216213865 C3550963 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT -1 3026 -0.23196959316135662 C3552552 COWDEN SYNDROME 2 -1 3026 -0.5579776254917111 C3553029 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 -1 3026 -0.13580766894883733 C3553077 MICROPHTHALMIA, SYNDROMIC 11 -1 3026 0.0 C3553298 UV-SENSITIVE SYNDROME 2 -1 3026 -0.6332411336094963 C3553328 UV-SENSITIVE SYNDROME 3 -1 3026 -0.563313760281523 C3553349 COENZYME Q10 DEFICIENCY, PRIMARY, 6 -1 3026 -0.3182800372722195 C3553354 COENZYME Q10 DEFICIENCY, PRIMARY, 2 -1 3026 -0.32108575325581756 C3553409 CARDIOMYOPATHY, DILATED, 2B -1 3026 -0.08502561494296382 C3553414 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 9.396623710367091e-05 C3553418 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT -1 3026 -0.09794590924575282 C3553450 Profound global developmental delay -1 3026 -0.7316964832961985 C3553512 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY -1 3026 -0.15997165629038967 C3553517 CORNELIA DE LANGE SYNDROME 4 -1 3026 -0.29342668414707307 C3553529 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 -1 3026 -0.15684758557128675 C3553571 Carbohydrate deficient glycoprotein syndrome type 2k -1 3026 -0.11287423938015774 C3553587 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY -1 3026 -0.10424437967017655 C3553607 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY -1 3026 -0.060171035999301514 C3553622 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 -1 3026 -0.30656203318072367 C3553661 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION -1 3026 -0.052900441552808916 C3553709 MYOPATHY, CENTRONUCLEAR, 4 -1 3026 -0.2189506866949021 C3553719 AMYOTROPHIC LATERAL SCLEROSIS 18 -1 3026 -0.06567639376743896 C3553748 ADAMS-OLIVER SYNDROME 3 -1 3026 -0.12473654215105986 C3553762 LOEYS-DIETZ SYNDROME 4 -1 3026 -0.24165777521334933 C3553793 SPERMATOGENIC FAILURE 10 -1 3026 2.702723182368416e-06 C3553813 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 -1 3026 -0.5396994841413378 C3553831 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES -1 3026 -0.016916950676303166 C3553842 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA -1 3026 -0.1940150482749721 C3553843 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA -1 3026 -0.21246534488281169 C3553844 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA -1 3026 -0.3532625324389046 C3553870 SECKEL SYNDROME 7 -1 3026 -0.48482148021768046 C3553886 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.07124619989817428 C3553887 OSTEOGENESIS IMPERFECTA, TYPE XIII -1 3026 -0.00905153734673539 C3553932 DEAFNESS, AUTOSOMAL RECESSIVE 98 -1 3026 -0.019013193649844884 C3553943 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS -1 3026 -0.026456292924811158 C3553977 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA -1 3026 -0.1940150482749721 C3554021 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA -1 3026 -0.15389540595268103 C3554042 DIAMOND-BLACKFAN ANEMIA 11 -1 3026 -0.1836471958612813 C3554055 PEROXISOME BIOGENESIS DISORDER 14B -1 3026 -0.22576430832235758 C3554067 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 -1 3026 -0.10210910086020517 C3554078 BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY -1 3026 -0.006236766935106306 C3554079 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 -1 3026 -0.07510046475787169 C3554159 DEAFNESS, AUTOSOMAL RECESSIVE 84B -1 3026 3.0319280309942798e-05 C3554163 DEAFNESS, AUTOSOMAL RECESSIVE 18B -1 3026 -0.12631769895983613 C3554182 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 -1 3026 -0.04434975010139342 C3554209 Congenital pontocerebellar hypoplasia type 8 -1 3026 -0.13757544992702095 C3554226 Congenital pontocerebellar hypoplasia type 7 -1 3026 -0.07375270844420029 C3554246 FOCAL FACIAL DERMAL DYSPLASIA 4 -1 3026 -0.002137864989111346 C3554330 NEPHROTIC SYNDROME, TYPE 7 -1 3026 -0.23809142007718126 C3554343 MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 -1 3026 -0.40647953871513837 C3554344 PHOSPHOHYDROXYLYSINURIA -1 3026 0.0 C3554355 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 -1 3026 -0.44709865904313567 C3554366 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q -1 3026 -0.02719918765320601 C3554367 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE -1 3026 3.9522983459439054e-05 C3554374 DYSTONIA 24 -1 3026 -0.24967026065897976 C3554381 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 -1 3026 -0.5447713363465466 C3554385 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu -1 3026 -0.27414849494059657 C3554399 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F -1 3026 -0.238044199962583 C3554409 HYPOTRICHOSIS 11 -1 3026 -0.09509686680615154 C3554415 ARTHROGRYPOSIS, DISTAL, TYPE 5D -1 3026 -0.274628942474861 C3554439 ALAZAMI SYNDROME -1 3026 3.257286869962073e-05 C3554447 DYSTONIA 25 -1 3026 -0.36699644755604954 C3554448 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 -1 3026 -0.4065735525041353 C3554453 SPERMATOGENIC FAILURE 11 -1 3026 0.00013388737109176763 C3554462 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 -1 3026 -0.3329728237567613 C3554478 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 -1 3026 -0.41234898508906975 C3554496 LEFT VENTRICULAR NONCOMPACTION 7 -1 3026 -0.3063966698429058 C3554499 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.07367779743557737 C3554524 MICROPHTHALMIA, ISOLATED 8 -1 3026 -0.12598815766974247 C3554534 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 -1 3026 -0.2796971594330236 C3554576 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE -1 3026 -0.026484700367447878 C3554592 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 -1 3026 -0.20464413066423545 C3554594 STEEL SYNDROME -1 3026 3.23209978623229e-05 C3554599 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 -1 3026 -0.13851015310042253 C3554605 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 -1 3026 -0.5771767661887706 C3554606 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 -1 3026 -0.33145066320194827 C3554607 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 -1 3026 -0.3322578032295654 C3554608 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 -1 3026 -0.3273129033918184 C3554638 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 -1 3026 -0.5549122228154426 C3554654 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F -1 3026 2.0442953464816505e-05 C3554663 BLEEDING DISORDER, PLATELET-TYPE, 15 -1 3026 0.00020045534199741866 C3554665 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA -1 3026 4.228226827107662e-06 C3554690 ATAXIA-OCULOMOTOR APRAXIA 3 -1 3026 -0.11616409483231219 C3665444 Neutrophilia (disorder) -1 3026 -0.4814112123358112 C3695063 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 -1 3026 3.3476549887723195e-05 C3696376 3-Methylglutaconic Aciduria -1 3026 -0.35425056710995895 C3698239 Cerebral cortex myoclonus -1 3026 -0.7453300207083224 C3711374 Nonsyndromic Deafness -1 3026 -0.47548544660438646 C3711381 Hereditary Diffuse Leukoencephalopathy with Spheroids -1 3026 -0.3461469182451308 C3711387 Autosomal Recessive Primary Microcephaly -1 3026 -0.24133993655105918 C3714497 Reactive airway disease -1 3026 -0.19300873946703945 C3714619 Insulin resistance syndrome -1 3026 -0.31993733372529354 C3714896 SMITH-MCCORT DYSPLASIA 2 -1 3026 -0.09088562141317658 C3714942 OTOFACIOCERVICAL SYNDROME 2 -1 3026 -0.7070275620354963 C3714949 PACHYONYCHIA CONGENITA 4 -1 3026 -0.20596346415815547 C3714976 ACTIVATED PI3K-DELTA SYNDROME -1 3026 -0.3542893868884269 C3714980 BARDET-BIEDL SYNDROME 17 -1 3026 -0.16083532967719738 C3714992 CANDIDIASIS, FAMILIAL, 8 -1 3026 -0.31618242576230693 C3715049 CEROID LIPOFUSCINOSIS, NEURONAL, 13 -1 3026 -0.05819508985740274 C3715051 CRANIOSYNOSTOSIS 3 -1 3026 -0.21491489300432504 C3715155 AMYOTROPHIC LATERAL SCLEROSIS 19 -1 3026 -0.059577279238485444 C3715192 ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME -1 3026 -0.22760594891563762 C3715216 RETINITIS PIGMENTOSA 66 -1 3026 -0.08804794869216072 C3805083 Portal fibrosis -1 3026 -0.7067167567282041 C3805373 CATARACT 13 WITH ADULT i PHENOTYPE -1 3026 7.471032868922034e-05 C3805375 ALBINISM, OCULOCUTANEOUS, TYPE VI -1 3026 -0.07317510167256314 C3805410 CATARACT 20, MULTIPLE TYPES -1 3026 0.00022731253182528555 C3805887 Generalized osteoporosis with pathologic fractures -1 3026 -0.469338007578773 C3806174 BARDET-BIEDL SYNDROME 18 -1 3026 -0.15986019101085866 C3806688 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm -1 3026 -0.11288500433530961 C3806702 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 -1 3026 -0.02726699689385785 C3806730 MENTAL RETARDATION, X-LINKED 98 -1 3026 -0.41829929774125846 C3806742 MICROPHTHALMIA, SYNDROMIC 13 -1 3026 -0.2048328931252918 C3806746 MENTAL RETARDATION, X-LINKED 99 -1 3026 -0.418277326998544 C3806774 GROWTH RETARDATION, PRENATAL, WITH PROGRESSIVE PANCYTOPENIA AND CEREBELLAR HYPOPLASIA -1 3026 -0.5888886458141964 C3807541 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY -1 3026 -0.4470342354207559 C3808012 CATARACT 23, MULTIPLE TYPES -1 3026 -0.10483746011035719 C3808667 EPISODIC PAIN SYNDROME, FAMILIAL, 1 -1 3026 -0.44554831365464537 C3808739 MYASTHENIC SYNDROME, CONGENITAL, 8 -1 3026 -0.27235990049235764 C3808786 ALBINISM, OCULOCUTANEOUS, TYPE VII -1 3026 -0.019287715139767094 C3808800 CATARACT 39, MULTIPLE TYPES -1 3026 0.0001981315779666648 C3808889 POLYDACTYLY, POSTAXIAL, TYPE A6 -1 3026 -0.06766688213075511 C3808920 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 -1 3026 -0.14285787424411894 C3808935 CARDIOMYOPATHY, DILATED, 1JJ -1 3026 -0.08502561494296382 C3808940 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 -1 3026 -0.2661479701884638 C3808953 NEPHROTIC SYNDROME, TYPE 8 -1 3026 -0.14747432781762906 C3808971 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA -1 3026 -0.1940150482749721 C3808975 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA -1 3026 -0.17130924813695783 C3808981 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA -1 3026 -0.19397898547902803 C3808983 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA -1 3026 -0.19400108097140256 C3808986 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA -1 3026 -0.16898001365576126 C3808991 NGLY1 deficiency -1 3026 -0.022773742292229546 C3809007 CARDIOFACIOCUTANEOUS SYNDROME 4 -1 3026 -0.44626170231387435 C3809013 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 -1 3026 -0.18235096782056184 C3809039 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 -1 3026 6.726416754188058e-05 C3809042 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 -1 3026 -0.5455348118617115 C3809049 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT -1 3026 -0.019073836565053508 C3809087 CILIARY DYSKINESIA, PRIMARY, 21 -1 3026 -0.2547453489401285 C3809147 DOWLING-DEGOS DISEASE 2 -1 3026 -0.27360124264127733 C3809198 PULMONARY HYPERTENSION, PRIMARY, 4 -1 3026 -0.3711480875050827 C3809199 PRECOCIOUS PUBERTY, CENTRAL, 2 -1 3026 -0.6232095145863121 C3809209 NEMALINE MYOPATHY 8 -1 3026 -0.020069513961916412 C3809233 NOONAN SYNDROME 8 -1 3026 -0.07798997079626861 C3809236 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S -1 3026 -0.13741711114981978 C3809278 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET -1 3026 -0.4349232228946071 C3809299 CONE-ROD DYSTROPHY 18 -1 3026 -0.1644432084052828 C3809312 ATRIAL FIBRILLATION, FAMILIAL, 14 -1 3026 -0.01097972130865359 C3809320 NEPHRONOPHTHISIS 16 -1 3026 -0.21328210106883333 C3809327 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 -1 3026 -0.20672726914060707 C3809332 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY -1 3026 6.377865686357787e-05 C3809339 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 -1 3026 -0.044366114181482404 C3809414 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 -1 3026 -0.18237242400230735 C3809420 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 -1 3026 -0.1853655632296752 C3809427 SPERMATOGENIC FAILURE 12 -1 3026 -0.03746830244149712 C3809431 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.010159079071406632 C3809464 MYOPIA 22, AUTOSOMAL DOMINANT -1 3026 3.857206023749615e-05 C3809468 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 -1 3026 -0.5411518290372006 C3809482 MYOPIA 23, AUTOSOMAL RECESSIVE -1 3026 -0.04720833599986192 C3809483 SPECIFIC LANGUAGE IMPAIRMENT 5 -1 3026 0.0 C3809503 RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS -1 3026 -0.058768220911116914 C3809513 AORTIC ANEURYSM, FAMILIAL THORACIC 8 -1 3026 -0.17957891303968726 C3809522 INFANTILE LIVER FAILURE SYNDROME 1 -1 3026 -0.04091729113995833 C3809526 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 -1 3026 -0.07596553085657583 C3809548 CILIARY DYSKINESIA, PRIMARY, 23 -1 3026 -0.1990526731381106 C3809553 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 -1 3026 -0.3215365421382823 C3809567 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS -1 3026 -0.014136482161332786 C3809583 IMMUNODEFICIENCY 12 -1 3026 -0.08386393630201078 C3809592 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) -1 3026 -0.0980447348772581 C3809624 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 -1 3026 -0.30097830203346587 C3809634 CILIARY DYSKINESIA, PRIMARY, 24 -1 3026 -0.1341280211938075 C3809641 CILIARY DYSKINESIA, PRIMARY, 25 -1 3026 -0.1615365247994105 C3809645 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 -1 3026 -0.3449094471395327 C3809650 BAINBRIDGE-ROPERS SYNDROME -1 3026 0.0 C3809655 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R -1 3026 -0.3151968144729167 C3809672 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 -1 3026 -0.12408356555214753 C3809684 CILIARY DYSKINESIA, PRIMARY, 26 -1 3026 -0.16039155163956154 C3809686 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 -1 3026 -0.3606062582707101 C3809691 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY -1 3026 -0.2172265471029714 C3809701 CILIARY DYSKINESIA, PRIMARY, 27 -1 3026 -0.16043790636002025 C3809706 CILIARY DYSKINESIA, PRIMARY, 28 -1 3026 -0.16043790636002025 C3809710 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 -1 3026 -0.16956971815452548 C3809738 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME -1 3026 -0.1658520191115634 C3809753 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 -1 3026 -0.20539899757418195 C3809798 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 -1 3026 -0.021694083256441836 C3809853 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 -1 3026 4.928730948483562e-05 C3809877 SCHAAF-YANG SYNDROME -1 3026 -0.2151499787316355 C3809888 DIAMOND-BLACKFAN ANEMIA 12 -1 3026 -0.2041058138020007 C3809893 EPISODIC PAIN SYNDROME, FAMILIAL, 2 -1 3026 -0.33094870266205895 C3809910 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES -1 3026 -0.0057676855822119625 C3809928 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III -1 3026 -0.19116141537961912 C3809954 RETINITIS PIGMENTOSA 67 -1 3026 -0.05831598268840253 C3809965 NEPHROTIC SYNDROME, TYPE 9 -1 3026 -0.18076732475799287 C3809971 ASPARAGINE SYNTHETASE DEFICIENCY -1 3026 -0.1473873436450852 C3810001 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 -1 3026 -0.07878290974740561 C3810023 VERHEIJ SYNDROME -1 3026 -0.10668716535193938 C3810043 IMMUNODEFICIENCY 15 -1 3026 -0.5326085302661067 C3810053 IMMUNODEFICIENCY 16 -1 3026 -0.028861400384404944 C3810055 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 -1 3026 -0.07793908337181268 C3810062 Congenital disorder of glycosylation type 1w -1 3026 -0.274199295914126 C3810072 Palmoplantar keratoderma Nagashima type -1 3026 -0.23551885873847406 C3810080 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 -1 3026 0.0 C3810100 FANCONI RENOTUBULAR SYNDROME 3 -1 3026 -0.4559462201803861 C3810107 IMMUNODEFICIENCY 17 -1 3026 -0.04265236138394335 C3810138 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 -1 3026 -0.08706550676915793 C3810147 IMMUNODEFICIENCY 19 -1 3026 -0.23066221176773477 C3810185 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib -1 3026 -0.31061848049829455 C3810194 NEUROPATHY, HEREDITARY SENSORY, TYPE IF -1 3026 -0.4995336647086926 C3810200 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY -1 3026 -0.21900680266959946 C3810225 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 -1 3026 2.655270508777896e-05 C3810278 JOUBERT SYNDROME 22 -1 3026 -0.07746604201606958 C3810285 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS -1 3026 -0.2740276280670166 C3810289 SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE -1 3026 -0.09012517953318074 C3810294 SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE -1 3026 -0.0894137834634394 C3810324 MORBID OBESITY AND SPERMATOGENIC FAILURE -1 3026 -0.037590777903850535 C3810325 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS -1 3026 -0.012051784989946655 C3810326 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 -1 3026 -0.15608052206163484 C3810342 IMMUNODEFICIENCY 20 -1 3026 -0.5772662433320297 C3810343 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES -1 3026 6.162344786786456e-05 C3810354 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 -1 3026 -0.18562974472512236 C3810359 RENAL HYPODYSPLASIA/APLASIA 2 -1 3026 0.00010989075869394238 C3810363 BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME -1 3026 -0.16782425299804457 C3810367 PREMATURE OVARIAN FAILURE 8 -1 3026 0.00015120080036123973 C3810376 PREMATURE OVARIAN FAILURE 9 -1 3026 9.316180029417254e-05 C3810380 RETINITIS PIGMENTOSA 68 -1 3026 -0.07634912022113899 C3810384 NEMALINE MYOPATHY 9 -1 3026 -0.28600532216673535 C3810394 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE -1 3026 -0.026930337589121563 C3810404 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO -1 3026 -0.032690597918894344 C3810406 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 -1 3026 -0.36041095714317833 C3810407 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 -1 3026 -0.22728054500059952 C3811918 GRN-related frontotemporal dementia -1 3026 -0.6262030329436915 C3826457 Diabetes in children -1 3026 -0.5835352941294892 C3828416 Radiation Damage -1 3026 -0.7048709601542275 C3839507 Diminished ovarian reserve -1 3026 -0.8469770113358853 C3839957 Hereditary cystatin C amyloid angiopathy -1 3026 -0.8771246922174025 C3841475 beta^+^ Thalassemia -1 3026 -0.6532292347124664 C3850141 Acute-On-Chronic Liver Failure -1 3026 -0.17082933953998836 C3853540 Aspirin exacerbated respiratory disease -1 3026 -0.3874523817572001 C3854173 Pre-renal acute kidney injury -1 3026 -0.6535352205777427 C3854388 Hyperferritinaemia -1 3026 -0.4314387737284294 C3860213 Autoinflammatory disorder -1 3026 -0.6473759919827647 C3873482 Chronic ulcerative stomatitis -1 3026 -0.6981487420390906 C3873491 Invasive meningococcal disease -1 3026 -0.7055429810414391 C3875321 Inflammatory dermatosis -1 3026 -0.3702640858334022 C3875492 Hypocalciuric hypercalcemia -1 3026 -0.8791964641455404 C3887523 Very long chain acyl-CoA dehydrogenase deficiency -1 3026 -0.09002421890863908 C3887524 Skin Erosion -1 3026 -0.4753965764227922 C3887638 Failure to thrive in infant -1 3026 -0.6846151146105836 C3887650 Adult Rickets -1 3026 -0.2961537883799051 C3887667 Retrocollis -1 3026 -0.5497194236791992 C3887964 POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT -1 3026 -0.24537818611582043 C3888001 HERMANSKY-PUDLAK SYNDROME 3 -1 3026 -0.17248500688331722 C3888002 PULMONARY HYPERTENSION, PRIMARY, 2 -1 3026 -0.36896785668899024 C3888004 HERMANSKY-PUDLAK SYNDROME 5 -1 3026 -0.16277356609449342 C3888007 HERMANSKY-PUDLAK SYNDROME 6 -1 3026 -0.09418490603874796 C3888026 HERMANSKY-PUDLAK SYNDROME 8 -1 3026 -0.0972042712211636 C3888031 SPINOCEREBELLAR ATAXIA 35 -1 3026 -0.15824397058819897 C3888123 DEAFNESS, AUTOSOMAL DOMINANT 50 -1 3026 -0.018834918046014427 C3888208 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT -1 3026 -0.0433694499585171 C3888209 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE -1 3026 -0.2048391898870375 C3888318 Myopathy, familial idiopathic inflammatory -1 3026 -0.8149780286930015 C3888355 DEAFNESS, AUTOSOMAL RECESSIVE 93 -1 3026 -0.028658001012601582 C3888631 Monogenic diabetes -1 3026 -0.5835179563132082 C3889475 BARDET-BIEDL SYNDROME 19 -1 3026 -0.058434240276839806 C3889476 Benign Familial Convulsion -1 3026 -0.9073305732085084 C3889636 SPINOCEREBELLAR ATAXIA 37 -1 3026 -0.013948285986247035 C3889979 Periodic Fever Syndrome -1 3026 -0.2714524104857871 C3890167 MENTAL RETARDATION, X-LINKED 100 -1 3026 -0.6734849300310484 C3890168 MENTAL RETARDATION, X-LINKED 101 -1 3026 -0.01104807807535745 C3890591 NEPHRONOPHTHISIS 18 -1 3026 -0.05711690426353528 C3891556 CHROMOSOME Xq26.3 DUPLICATION SYNDROME -1 3026 -0.06347008052263382 C3892039 BARDET-BIEDL SYNDROME 5 -1 3026 -0.0787445099168024 C3892049 DEAFNESS, AUTOSOMAL RECESSIVE 101 -1 3026 -0.014300884709386187 C3897045 Short Stature Homeobox Deficiency -1 3026 -0.6939009134115767 C3899278 Early Rheumatoid Arthritis -1 3026 -0.781068224737048 C3899503 Congenital hypogonadotropic hypogonadism -1 3026 -0.4731485793238364 C4011454 CATARACT 42 -1 3026 -0.2200547188928895 C4011974 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE -1 3026 -0.04888538789461961 C4012395 Congenital disorder of glycosylation type 1y -1 3026 -0.3156150882874223 C4013947 IMMUNODEFICIENCY 28 -1 3026 -0.03168620858653922 C4013948 IMMUNODEFICIENCY 29 -1 3026 -0.5182736017681362 C4014233 IMMUNODEFICIENCY 22 -1 3026 -0.2663733490619051 C4014239 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY -1 3026 -0.07375012249099488 C4014258 IMMUNODEFICIENCY, COMMON VARIABLE, 11 -1 3026 -0.25024226924705445 C4014261 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 -1 3026 -0.15682371298825987 C4014269 ATRIAL FIBRILLATION, FAMILIAL, 15 -1 3026 -0.02363244872154747 C4014310 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 -1 3026 -0.1279450337304572 C4014312 RETINITIS PIGMENTOSA 69 -1 3026 -0.05831598268840253 C4014339 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES -1 3026 0.00011202335300453115 C4014343 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 -1 3026 -0.073735426701347 C4014347 PONTOCEREBELLAR HYPOPLASIA, TYPE 10 -1 3026 -0.027227570432328933 C4014361 ABDOMINAL OBESITY-METABOLIC SYNDROME 3 -1 3026 -0.009858382458757113 C4014371 IMMUNODEFICIENCY 23 -1 3026 -0.05111359680519713 C4014386 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 -1 3026 0.0 C4014408 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 -1 3026 -0.3264686653899019 C4014419 XIA-GIBBS SYNDROME -1 3026 -0.06039643121380803 C4014430 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 -1 3026 -0.015251169462958902 C4014435 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 -1 3026 -0.28351035880040726 C4014440 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 -1 3026 -0.3312462308849337 C4014449 SPERMATOGENIC FAILURE 13 -1 3026 -0.03746830244149712 C4014454 SPERMATOGENIC FAILURE 14 -1 3026 -0.041228523215578794 C4014488 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E -1 3026 -0.07791462461673344 C4014492 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 -1 3026 -0.15480417295137905 C4014501 CONE-ROD DYSTROPHY 19 -1 3026 -0.1580966444821905 C4014507 NEPHROTIC SYNDROME, TYPE 10 -1 3026 0.000320205134773377 C4014516 DIARRHEA 7 -1 3026 -0.07596138961368637 C4014528 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 -1 3026 -0.006194504619876396 C4014531 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 -1 3026 -0.10214354385387507 C4014534 CILIARY DYSKINESIA, PRIMARY, 29 -1 3026 -0.11850339902169298 C4014538 HELSMOORTEL-VAN DER AA SYNDROME -1 3026 -0.4015264954925469 C4014540 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME -1 3026 -0.02252279305773955 C4014545 TATTON-BROWN-RAHMAN SYNDROME -1 3026 -0.10648193829682279 C4014563 HYPOTRICHOSIS 12 -1 3026 -0.09517848712525012 C4014578 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 -1 3026 -0.0076716403877459 C4014584 BLEEDING DISORDER, PLATELET-TYPE, 18 -1 3026 -0.004850810046524719 C4014605 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY -1 3026 -0.005061076234036329 C4014616 HYPOTRICHOSIS 13 -1 3026 7.17726750089076e-05 C4014641 DIAMOND-BLACKFAN ANEMIA 13 -1 3026 -0.2041058138020007 C4014660 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 -1 3026 -0.045172495749871845 C4014668 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 -1 3026 -0.04435917537685221 C4014676 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 -1 3026 -0.15988319835419285 C4014681 RETINITIS PIGMENTOSA 70 -1 3026 -0.076903952247039 C4014708 WEBB-DATTANI SYNDROME -1 3026 -0.17724848898831985 C4014742 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 -1 3026 -0.2388275914413005 C4014745 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 -1 3026 1.4581193103935242e-05 C4014762 MYOPIA 24, AUTOSOMAL DOMINANT -1 3026 1.7684064839817992e-05 C4014812 SPINOCEREBELLAR ATAXIA 38 -1 3026 -0.15607923386907138 C4014814 MYOPATHY, CENTRONUCLEAR, 5 -1 3026 -0.24598688198478696 C4014821 PORETTI-BOLTSHAUSER SYNDROME -1 3026 -0.14171947920204278 C4014833 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES -1 3026 -0.28835177810712526 C4014848 NANOPHTHALMOS 4 -1 3026 0.00013722625003909084 C4014856 CONE-ROD DYSTROPHY 20 -1 3026 -0.16521649901332774 C4014864 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 -1 3026 3.257286869962073e-05 C4014869 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 -1 3026 -0.2581791708459152 C4014918 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 -1 3026 1.7443571921571532e-05 C4014942 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA -1 3026 -0.1675315244093842 C4014954 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE -1 3026 -0.27458028564847264 C4014988 HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA -1 3026 -0.1728037766294427 C4014993 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 -1 3026 -0.182014782985081 C4014997 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 -1 3026 -0.030517035728156672 C4015016 CILIARY DYSKINESIA, PRIMARY, 30 -1 3026 -0.14677993930883718 C4015029 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D -1 3026 -0.2424736134020222 C4015038 MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC -1 3026 -0.23287537605226713 C4015080 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.009379189446933722 C4015119 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 -1 3026 -0.0224031573636303 C4015124 MIRROR MOVEMENTS 3 -1 3026 -0.07889410520052142 C4015128 POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE -1 3026 -0.22608395981590776 C4015129 46,XY SEX REVERSAL 9 -1 3026 -0.29710210287478644 C4015156 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.11956127017624926 C4015160 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C -1 3026 -0.07500896867461931 C4015167 MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 -1 3026 3.2719129750335973e-05 C4015183 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 -1 3026 -0.002020255107802815 C4015195 IMMUNODEFICIENCY 37 -1 3026 -0.029081720775213128 C4015202 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR -1 3026 -0.009133026776757204 C4015242 RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME -1 3026 6.316669960138022e-05 C4015253 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 -1 3026 -0.32154026420575277 C4015283 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 -1 3026 -0.054806112464310205 C4015285 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY -1 3026 -0.021136510430527174 C4015301 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 -1 3026 -0.1560928558823359 C4015342 MACULAR DYSTROPHY, VITELLIFORM, 4 -1 3026 -0.6456887291953798 C4015344 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER -1 3026 -0.00574888336976691 C4015357 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 -1 3026 -0.01749387922963577 C4015360 NEMALINE MYOPATHY 10 -1 3026 -0.17492311890593423 C4015368 AORTIC ANEURYSM, FAMILIAL THORACIC 9 -1 3026 -0.17973900898665524 C4015395 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 -1 3026 -0.3480075408880001 C4015405 BLEEDING DISORDER, PLATELET-TYPE, 19 -1 3026 -0.005653045387840799 C4015409 OVARIAN DYSGENESIS 4 -1 3026 -0.0428408263174283 C4015420 EPILEPSY, PROGRESSIVE MYOCLONIC 7 -1 3026 -0.19832360939649463 C4015424 RETINAL DYSTROPHY AND OBESITY -1 3026 -0.05346253377802569 C4015436 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS -1 3026 -0.07369279246288242 C4015444 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 -1 3026 -0.0071028495877971665 C4015447 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 -1 3026 -0.07598299677250914 C4015461 RUIJS-AALFS SYNDROME -1 3026 -0.03796557593006335 C4015474 Chronic atrial and intestinal dysrhythmia -1 3026 -0.5716433394181804 C4015495 CEREBELLOFACIODENTAL SYNDROME -1 3026 0.00010978625801549846 C4015505 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 -1 3026 -0.1560352621739982 C4015512 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA -1 3026 -0.001997544086606351 C4015552 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 -1 3026 -0.3159933340888615 C4015558 TEMPLE SYNDROME -1 3026 0.0 C4015596 MYASTHENIC SYNDROME, CONGENITAL, 15 -1 3026 -0.2013364841834962 C4015619 EPILEPSY, PROGRESSIVE MYOCLONIC, 8 -1 3026 -0.19682415509855933 C4015643 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 -1 3026 -0.24198640326915483 C4015686 LETHAL CONGENITAL CONTRACTURE SYNDROME 6 -1 3026 0.0 C4015701 MECKEL SYNDROME 12 -1 3026 0.00011797523692569367 C4015728 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET -1 3026 -0.0579291618730784 C4015729 PEELING SKIN SYNDROME 3 -1 3026 -0.08550401568318028 C4016621 Mitochondrial neurogastrointestinal encephalomyopathy syndrome -1 3026 -0.6222349512356421 C4017171 TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE -1 3026 -0.09198369783575966 C4020703 Cystic lung lesion -1 3026 -0.7062286413768287 C4020778 maternal hyperglycemia -1 3026 -0.5713379311843317 C4020827 Neonatal hemolytic anemia -1 3026 -0.7069142420253988 C4020848 Aneurysmal disease -1 3026 -0.5723230913275401 C4020859 Pyramidal tract disease -1 3026 -0.3165568403069067 C4020863 Blood platelet disease -1 3026 -0.4835138101386257 C4020871 Dystonic disease -1 3026 -0.31600525992020595 C4020884 Anxiety disease -1 3026 -0.3141976043548869 C4020952 Fingernail dysplasia -1 3026 -0.509493503395622 C4020969 Inflammatory abnormality of the eye -1 3026 -0.4925261703488869 C4021107 Non-obstructive azoospermia -1 3026 -0.5590215540252399 C4021528 Pelvic girdle amyotrophy -1 3026 -0.700753554540242 C4021533 Severe sensorineural hearing impairment -1 3026 -0.47797007892515064 C4021633 Patchy palmoplantar keratoderma -1 3026 -0.747868950886562 C4021775 High-frequency sensorineural hearing impairment -1 3026 -0.5767434442796918 C4021796 Renal steatosis -1 3026 -0.4995565416614476 C4021806 Prelingual sensorineural hearing impairment -1 3026 -0.3317024873932112 C4021977 Visceral angiomatosis -1 3026 -0.361660031091121 C4022153 Cerebral cortical hemiatrophy -1 3026 -0.7932259551054566 C4023018 Subcortical cerebral atrophy -1 3026 -0.5598544170510031 C4023106 Obstructive azoospermia -1 3026 -0.4963038894958605 C4023169 Moyamoya phenomenon -1 3026 -0.5751748097977234 C4023338 Profound sensorineural hearing impairment -1 3026 -0.49718540159377067 C4023710 Palmar hyperkeratosis -1 3026 -0.5771862155137392 C4024599 Chronic oral candidiasis -1 3026 -0.659162743998856 C4024613 Progressive distal muscular atrophy -1 3026 -0.49914066118467376 C4024641 Enlarged polycystic ovaries -1 3026 -0.576242275675084 C4024762 Pattern dystrophy of the retina -1 3026 -0.5108680377184782 C4024790 Adult-onset night blindness -1 3026 -0.4995948257507252 C4024794 Horizontal supranuclear gaze palsy -1 3026 -0.7065542118719746 C4024896 Motor neuron atrophy -1 3026 -0.4207474899619471 C4024900 Atrophy/Degeneration affecting the brainstem -1 3026 -0.30516406969714194 C4024945 Generalized cerebral atrophy/hypoplasia -1 3026 -0.49940181278391454 C4024957 Proximal spinal muscular atrophy -1 3026 -0.7040556033153287 C4025170 Osteoporosis of vertebrae -1 3026 -0.3770447719541319 C4025212 Autonomic bladder dysfunction -1 3026 -0.7067484965060186 C4025231 Chronic calcifying pancreatitis -1 3026 -0.008894231254936578 C4025270 Arteriosclerosis of small cerebral arteries -1 3026 -0.7960308277263637 C4025671 Sudden episodic apnea -1 3026 -0.7067915730474844 C4025735 Nonspherocytic hemolytic anemia -1 3026 -0.5877666058075639 C4025742 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) -1 3026 -0.5036432954711817 C4025777 Autosomal dominant contiguous gene syndrome -1 3026 -0.7069749654205197 C4025886 Severe periodontitis -1 3026 -0.7074968779572208 C4048273 Chorioretinal atrophy -1 3026 -0.3315606383555794 C4048329 Immunosuppression -1 3026 -0.6930745838689906 C4049006 Selective immunoglobulin A deficiency -1 3026 -0.47594789885219424 C4053775 Pituitary stalk interruption syndrome -1 3026 -0.37344004486570004 C4072867 obsolete Peripheral retinopathy -1 3026 -0.6804363347145553 C4072872 obsolete Rod-cone dystrophy -1 3026 -0.7068699362805756 C4081731 Hereditary systemic amyloidosis -1 3026 -0.48531242307947875 C4082167 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome -1 3026 -0.6936483192942082 C4082172 Porencephalic cyst -1 3026 -0.5093760006510255 C4082937 Necrotizing enterocolitis in fetus OR newborn -1 3026 -0.6608342728825006 C4084708 DEAFNESS, AUTOSOMAL DOMINANT 40 -1 3026 -0.019013193649844884 C4084712 DEAFNESS, AUTOSOMAL DOMINANT 67 -1 3026 -0.019013193649844884 C4084840 FANCONI ANEMIA, COMPLEMENTATION GROUP T -1 3026 -0.11793937842280089 C4084842 JOUBERT SYNDROME 25 -1 3026 -0.09871275477125387 C4084843 JOUBERT SYNDROME 26 -1 3026 -0.11589599093812274 C4084968 Hereditary Hyperekplexia -1 3026 -0.3566540714466733 C4085238 MYOCLONIC-ATONIC EPILEPSY -1 3026 -0.11044478852998292 C4085250 PAGET DISEASE OF BONE 6 -1 3026 -0.015383705667548977 C4085595 AL-RAQAD SYNDROME -1 3026 -0.16261444631981148 C4085597 CHOPS SYNDROME -1 3026 0.00046202879769685623 C4085873 LUSCAN-LUMISH SYNDROME -1 3026 -0.18308000760227797 C4225154 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 -1 3026 -0.18412392832720162 C4225157 FAMILIAL ADENOMATOUS POLYPOSIS 3 -1 3026 -0.22491759300756464 C4225158 SPINOCEREBELLAR ATAXIA 41 -1 3026 -0.15606833151458818 C4225160 THIOPURINES, POOR METABOLISM OF, 2 -1 3026 -0.006090172544656648 C4225161 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 -1 3026 -0.0737673910021755 C4225162 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE -1 3026 -0.04641215104222963 C4225165 NEPHROTIC SYNDROME, TYPE 13 -1 3026 -0.026865518800526008 C4225166 NEPHROTIC SYNDROME, TYPE 12 -1 3026 -0.037440454171248756 C4225167 SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY -1 3026 -0.018808094766266624 C4225168 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 -1 3026 -0.006408028414673472 C4225170 LEUKODYSTROPHY, HYPOMYELINATING, 13 -1 3026 2.8935079900871408e-05 C4225171 METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION -1 3026 -0.07355087266298646 C4225172 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION -1 3026 -0.1474014349443812 C4225173 IMMUNODEFICIENCY, COMMON VARIABLE, 13 -1 3026 -0.24330379925193174 C4225176 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 -1 3026 -0.25732071757898045 C4225182 CATARACT 45 -1 3026 7.471032868922034e-05 C4225186 PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET -1 3026 -0.04837734291904981 C4225187 EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE -1 3026 0.0 C4225188 MEIER-GORLIN SYNDROME 6 -1 3026 -0.18707230041145412 C4225189 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS -1 3026 -0.21296539449333 C4225190 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp -1 3026 3.2432526437253806e-05 C4225193 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA -1 3026 -0.15975714863439658 C4225195 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 -1 3026 -0.043241282900638535 C4225196 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION -1 3026 5.8885933430508075e-05 C4225197 PREIMPLANTATION EMBRYONIC LETHALITY 1 -1 3026 0.0 C4225199 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X -1 3026 5.2725720069202175e-05 C4225200 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 -1 3026 -0.06056953589660411 C4225201 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 -1 3026 -0.18190668012383054 C4225202 LAMB-SHAFFER SYNDROME -1 3026 -0.1577924020226859 C4225205 SPINOCEREBELLAR ATAXIA 42 -1 3026 -0.1574302272033222 C4225206 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 -1 3026 -0.02726537442618117 C4225208 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS -1 3026 5.1140365129986876e-05 C4225210 OOCYTE MATURATION DEFECT 2 -1 3026 0.0 C4225212 SECKEL SYNDROME 9 -1 3026 -0.18220638244623574 C4225213 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA -1 3026 8.209210918264098e-06 C4225215 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES -1 3026 -0.07360466504605384 C4225217 HETEROTAXY, VISCERAL, 7, AUTOSOMAL -1 3026 -0.2735249524839736 C4225220 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 -1 3026 -0.03806710051961314 C4225221 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 -1 3026 -0.011852073715926992 C4225222 TAKENOUCHI-KOSAKI SYNDROME -1 3026 -0.09708816829996103 C4225223 TREMOR, HEREDITARY ESSENTIAL, 5 -1 3026 -0.008655089572066621 C4225226 COENZYME Q10 DEFICIENCY, PRIMARY, 8 -1 3026 -0.027218583043392964 C4225227 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES -1 3026 -0.027286261006389312 C4225228 NEPHROTIC SYNDROME, TYPE 11 -1 3026 -0.15239869758965033 C4225229 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES -1 3026 -0.07688787304005908 C4225230 CILIARY DYSKINESIA, PRIMARY, 33 -1 3026 -0.15738425242710705 C4225232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE -1 3026 -0.04640148529360448 C4225233 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT -1 3026 -0.021948962711924997 C4225234 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn -1 3026 -0.06193619298400211 C4225235 MYASTHENIC SYNDROME, CONGENITAL, 19 -1 3026 -0.28847543230153816 C4225236 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 -1 3026 -0.1559611493668368 C4225238 PARKINSON DISEASE 22, AUTOSOMAL DOMINANT -1 3026 -0.04471768726029552 C4225240 DEAFNESS, AUTOSOMAL DOMINANT 68 -1 3026 0.0 C4225243 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z -1 3026 -0.22149987752865027 C4225246 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K -1 3026 -0.26531069770296245 C4225247 LEUKODYSTROPHY, HYPOMYELINATING, 12 -1 3026 -0.16599654213388199 C4225249 MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.005657549994331158 C4225251 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 -1 3026 -0.13768648830627134 C4225254 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY -1 3026 -0.07372752582430374 C4225257 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 -1 3026 -0.19609213182949534 C4225258 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 -1 3026 -0.22052485490169949 C4225259 SMITH-KINGSMORE SYNDROME -1 3026 -0.5821814019814253 C4225262 POROKERATOSIS 9, MULTIPLE TYPES -1 3026 -0.2187896436317887 C4225263 SENIOR-LOKEN SYNDROME 9 -1 3026 -0.19858964758810896 C4225269 CRANIOSYNOSTOSIS 6 -1 3026 -0.2128136222771119 C4225274 AU-KLINE SYNDROME -1 3026 -0.020208408351278247 C4225275 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 -1 3026 9.212800552660383e-05 C4225276 EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME -1 3026 -0.018972344575672206 C4225277 IMMUNODEFICIENCY, COMMON VARIABLE, 12 -1 3026 -0.39527294559100207 C4225279 SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE -1 3026 -0.48785076246588904 C4225284 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 -1 3026 -0.3499041808796875 C4225285 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM -1 3026 0.00012568600497431248 C4225288 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION -1 3026 -0.04298993369122535 C4225290 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 -1 3026 -0.045794520266139144 C4225295 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS -1 3026 8.413442624177758e-05 C4225297 ACHROMATOPSIA 7 -1 3026 -0.5752393542833926 C4225298 DEAFNESS, AUTOSOMAL RECESSIVE 104 -1 3026 0.00018795703171659017 C4225299 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 -1 3026 -0.008689800056031387 C4225300 CATARACT 44 -1 3026 -0.4471511360666944 C4225301 OSTEOGENESIS IMPERFECTA, TYPE XVII -1 3026 -0.10200877481311224 C4225302 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB -1 3026 -0.22152437432637268 C4225303 LETHAL CONGENITAL CONTRACTURE SYNDROME 9 -1 3026 -0.017396333620703773 C4225304 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 -1 3026 -0.1445183282540201 C4225308 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII -1 3026 -0.4995424457238808 C4225310 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.18208706987591802 C4225311 CILIARY DYSKINESIA, PRIMARY, 32 -1 3026 -0.12145989952269555 C4225312 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 -1 3026 -0.05788969092120298 C4225324 CANDIDIASIS, FAMILIAL, 9 -1 3026 -0.32077467280795346 C4225325 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 -1 3026 -0.19502248877095732 C4225328 IMMUNODEFICIENCY 40 -1 3026 -0.026484700367447878 C4225332 LEUKODYSTROPHY, HYPOMYELINATING, 10 -1 3026 -0.019133841600171904 C4225334 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE -1 3026 -0.3117561186067575 C4225335 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 -1 3026 -0.2739941556854646 C4225338 MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 9.396623710367091e-05 C4225341 DYSTONIA 26, MYOCLONIC -1 3026 -0.37835746119574915 C4225350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 -1 3026 -0.0977893737458847 C4225353 PARKINSON DISEASE 21 -1 3026 -0.1201667226859775 C4225354 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 -1 3026 -0.020374634920648484 C4225355 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 -1 3026 -0.1560928558823359 C4225357 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 -1 3026 -0.41469183202890203 C4225358 IMMUNODEFICIENCY 39 -1 3026 -0.06477870335291551 C4225359 LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA -1 3026 -0.030103173426370068 C4225364 MYASTHENIC SYNDROME, CONGENITAL, 18 -1 3026 -0.23039752762666627 C4225374 MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL -1 3026 -0.22945889214328458 C4225379 LIPOYLTRANSFERASE 1 DEFICIENCY -1 3026 -0.059475278774880506 C4225380 SINGLETON-MERTEN SYNDROME 2 -1 3026 -0.1615129164324943 C4225383 LICHTENSTEIN-KNORR SYNDROME -1 3026 -0.2246670208214791 C4225385 LETHAL CONGENITAL CONTRACTURE SYNDROME 8 -1 3026 -0.050782842931581355 C4225386 LETHAL CONGENITAL CONTRACTURE SYNDROME 7 -1 3026 -0.05076352347112892 C4225387 SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT -1 3026 -0.0461517279587531 C4225389 CATARACT 43 -1 3026 -0.2201757254717844 C4225391 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY -1 3026 -0.15341002142881646 C4225392 COENZYME Q10 DEFICIENCY, PRIMARY, 7 -1 3026 -0.028134595165255016 C4225393 3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA -1 3026 -0.07563939508485869 C4225394 AMELOGENESIS IMPERFECTA, TYPE IF -1 3026 5.0858232676476156e-05 C4225395 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 -1 3026 -0.043275447860333105 C4225402 PREMATURE OVARIAN FAILURE 10 -1 3026 -0.03750226076143409 C4225420 TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE -1 3026 -0.0464629968003862 C4225421 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 -1 3026 -0.4207796367984318 C4225667 CHROMOSOME 16p13.2 DELETION SYNDROME -1 3026 0.0 C4273958 Obesity due to melanocortin 4 receptor deficiency -1 3026 -0.21416329242619447 C4273988 Benign adult familial myoclonic epilepsy -1 3026 -0.0008238473356457776 C4274329 FRAXF syndrome -1 3026 0.0 C4275179 Young onset Parkinson disease -1 3026 -0.43212134559314525 C4280614 Angle class 2 malocclusion -1 3026 -0.29022822296103584 C4283893 DEAFNESS, AUTOSOMAL DOMINANT 66 -1 3026 -0.10889348132102883 C4284414 AORTIC ANEURYSM, FAMILIAL THORACIC 10 -1 3026 -0.18330261911202952 C4284588 SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE -1 3026 0.0 C4284592 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY -1 3026 -0.08939460836923223 C4302111 Familial Ménière disease -1 3026 -0.25034482874052744 C4302263 Cryptogenic multifocal ulcerous stenosing enteritis -1 3026 -0.3240408915968608 C4303082 Hyperinsulinism due to uncoupling protein 2 deficiency -1 3026 -0.12819697013917034 C4303546 Brain dopamine-serotonin vesicular transport disease -1 3026 -0.19137451134742198 C4304021 Autosomal dominant macrothrombocytopenia -1 3026 -0.5519966258261911 C4310614 AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME -1 3026 -0.05630456665354444 C4310616 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE -1 3026 -0.06056879110501912 C4310617 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS -1 3026 0.00028044968579465923 C4310618 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME -1 3026 -0.05240340546853012 C4310619 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 -1 3026 -0.09801342467370355 C4310621 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 -1 3026 0.0 C4310622 ANTERIOR SEGMENT DYSGENESIS 8 -1 3026 -0.28850882046661364 C4310624 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 -1 3026 -0.44718167625746386 C4310626 RETINITIS PIGMENTOSA 77 -1 3026 -0.07121977346661983 C4310627 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME -1 3026 -0.06372963569373856 C4310628 OPTIC ATROPHY 11 -1 3026 -0.045649407794470145 C4310631 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS -1 3026 -0.05451554677982928 C4310633 DYSTONIA 28, CHILDHOOD-ONSET -1 3026 -0.3573817831365508 C4310635 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 -1 3026 -0.011135108870200179 C4310636 ATRIAL FIBRILLATION, FAMILIAL, 18 -1 3026 -0.026267303668299137 C4310637 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 -1 3026 -0.02040070414237272 C4310639 GLAUCOMA 3, PRIMARY CONGENITAL, E -1 3026 -0.4660054981572229 C4310640 NEPHRONOPHTHISIS 20 -1 3026 -0.14353574094194754 C4310641 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 -1 3026 6.262755345620707e-05 C4310643 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE -1 3026 -0.07375385378592293 C4310644 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES -1 3026 -0.10656735351357459 C4310645 MYOPATHY, MYOFIBRILLAR, 8 -1 3026 -0.08410536250574153 C4310646 LISSENCEPHALY 8 -1 3026 -0.029088236196809038 C4310647 SECKEL SYNDROME 10 -1 3026 -0.03383482773576649 C4310648 UNCOMBABLE HAIR SYNDROME 3 -1 3026 -0.08232319499226781 C4310650 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII -1 3026 -0.3126298148289936 C4310651 FANCONI ANEMIA, COMPLEMENTATION GROUP U -1 3026 -0.11408119564002607 C4310652 FANCONI ANEMIA, COMPLEMENTATION GROUP V -1 3026 -0.11149443450546885 C4310653 LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME -1 3026 -0.038903926748401076 C4310654 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC -1 3026 -0.2476023375039334 C4310655 MYOPIA 25, AUTOSOMAL DOMINANT -1 3026 -0.1507101126260682 C4310656 IMMUNODEFICIENCY 49 -1 3026 -0.043334151280552145 C4310657 CONE-ROD DYSTROPHY AND HEARING LOSS -1 3026 -0.1236983844517457 C4310659 PREIMPLANTATION EMBRYONIC LETHALITY 2 -1 3026 0.0 C4310661 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 -1 3026 -0.038295323171503075 C4310665 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 -1 3026 0.0 C4310666 SPERMATOGENIC FAILURE 17 -1 3026 0.0 C4310668 HETEROTAXY, VISCERAL, 8, AUTOSOMAL -1 3026 0.0 C4310669 PERIVENTRICULAR NODULAR HETEROTOPIA 7 -1 3026 -0.21603001368001076 C4310670 LETHAL CONGENITAL CONTRACTURE SYNDROME 11 -1 3026 1.8803081193508042e-05 C4310671 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM -1 3026 -0.05799096123676569 C4310672 SHASHI-PENA SYNDROME -1 3026 7.099592906845142e-05 C4310673 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 -1 3026 -0.02383946641056247 C4310677 HAREL-YOON SYNDROME -1 3026 -0.15558370396906016 C4310684 SOTOS SYNDROME 3 -1 3026 -0.183201504407369 C4310685 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 -1 3026 -0.05816963861736511 C4310686 SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY -1 3026 -0.06036228175724852 C4310687 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 -1 3026 -0.14752173852509115 C4310688 SIFRIM-HITZ-WEISS SYNDROME -1 3026 -0.05695235255614058 C4310689 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES -1 3026 -0.013068317789902917 C4310691 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 -1 3026 -0.2922971199819183 C4310696 ZTTK SYNDROME -1 3026 -0.14731830551812292 C4310701 OROFACIODIGITAL SYNDROME XV -1 3026 -0.07748446592171798 C4310702 ALAZAMI-YUAN SYNDROME -1 3026 2.63094071647485e-05 C4310703 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 -1 3026 2.0905007930949182e-05 C4310707 BARDET-BIEDL SYNDROME 20 -1 3026 -0.12034586150845858 C4310711 MYOPATHY, MYOFIBRILLAR, 7 -1 3026 -0.0586040914921646 C4310713 MACULAR DYSTROPHY, PATTERNED, 3 -1 3026 -0.09244285858605039 C4310715 THAUVIN-ROBINET-FAIVRE SYNDROME -1 3026 -0.04797567970283224 C4310717 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 -1 3026 -0.1179790872547455 C4310718 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY -1 3026 -0.11710952364524838 C4310719 FAMILIAL ADENOMATOUS POLYPOSIS 4 -1 3026 -0.22491759300756464 C4310720 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY -1 3026 -0.08676545259726982 C4310721 CILIARY DYSKINESIA, PRIMARY, 35 -1 3026 -0.2546742204099671 C4310722 CILIARY DYSKINESIA, PRIMARY, 34 -1 3026 -0.078904444491385 C4310723 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE -1 3026 -0.009288847598404482 C4310724 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY -1 3026 -0.15447918870265112 C4310726 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 -1 3026 -0.07671228095994255 C4310727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa -1 3026 -0.01916408954653063 C4310731 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Y -1 3026 -0.0018981300442691184 C4310737 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 -1 3026 -0.18881386556577442 C4310738 MEIER-GORLIN SYNDROME 7 -1 3026 -0.16295718963693354 C4310739 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME -1 3026 0.0001163224207268998 C4310740 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 -1 3026 -0.01246613421952636 C4310741 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 -1 3026 -0.10663746006019353 C4310745 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 -1 3026 -0.25207025677909833 C4310746 HERMANSKY-PUDLAK SYNDROME 10 -1 3026 -0.25467249176730644 C4310747 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 -1 3026 -0.1511318328972497 C4310754 MYOPATHY, DISTAL, 5 -1 3026 7.922030137408331e-05 C4310755 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 -1 3026 -0.11876442394836528 C4310756 HYPERALDOSTERONISM, FAMILIAL, TYPE IV -1 3026 -0.35766974092275206 C4310757 PONTOCEREBELLAR HYPOPLASIA, TYPE 2F -1 3026 -0.1450952500220023 C4310758 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H -1 3026 -0.1945058584534515 C4310759 RETINITIS PIGMENTOSA 75 -1 3026 -0.07157471990694482 C4310762 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 -1 3026 -0.014852329022296058 C4310765 HYPERMANGANESEMIA WITH DYSTONIA 2 -1 3026 6.272624309311414e-05 C4310766 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION -1 3026 -0.015622889267415107 C4310767 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 -1 3026 -0.10283716469034028 C4310770 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 -1 3026 -0.07371136052746796 C4310771 MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 -1 3026 7.468013774669657e-05 C4310773 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 -1 3026 -0.06005478479796241 C4310774 MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 -1 3026 -0.07298689918449637 C4310775 DEAFNESS, AUTOSOMAL DOMINANT 70 -1 3026 -0.108850083376876 C4310777 DEAFNESS, AUTOSOMAL RECESSIVE 105 -1 3026 0.0 C4310778 YOU-HOOVER-FONG SYNDROME -1 3026 -0.02914283341528216 C4310780 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 -1 3026 -0.1560736312005555 C4310781 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 -1 3026 -0.15608052206163484 C4310785 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE -1 3026 -0.047990667928542875 C4310786 AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT -1 3026 -0.3000058813700621 C4310787 CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION -1 3026 -0.13772234831220098 C4310788 COFFIN-SIRIS SYNDROME 5 -1 3026 -0.0055918922064441285 C4310789 THROMBOCYTOPENIA 6 -1 3026 -0.12399991840060799 C4310790 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC -1 3026 -0.20958227833051618 C4310793 HEART AND BRAIN MALFORMATION SYNDROME -1 3026 -0.07357602297602744 C4310794 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 -1 3026 -0.07376239870767794 C4310797 BLEEDING DISORDER, PLATELET-TYPE, 20 -1 3026 1.5980967134954227e-05 C4310798 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 -1 3026 -0.07837800368479643 C4310799 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 -1 3026 -0.027302685913936232 C4310801 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR -1 3026 -0.08552333810018498 C4310812 IMMUNODEFICIENCY 50 -1 3026 -0.09955518978902365 C4310814 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE -1 3026 -0.016843618904095956 C4310815 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED -1 3026 -0.09959184596654563 C4310816 MENTAL RETARDATION, X-LINKED 105 -1 3026 4.42496626049671e-05 C4310817 MENTAL RETARDATION, X-LINKED 104 -1 3026 4.42496626049671e-05 C4310818 MENTAL RETARDATION, X-LINKED 103 -1 3026 -0.0058254803769759445 C4310819 IMMUNODEFICIENCY 47 -1 3026 -0.027204901502402026 C4310820 BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT -1 3026 -0.1490001472985407 C4310943 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE -1 3026 -0.02731851293724285 C4317046 Hematological abnormality -1 3026 -0.32665446936266795 C4317112 Generalized Lipodystrophy -1 3026 -0.7206280624963083 C4477033 Skeletal muscle steatosis -1 3026 -0.19361345687111856 C4478372 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED -1 3026 -0.11776816827505034 C4478383 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 -1 3026 -0.018989645928381343 C4479208 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 -1 3026 -0.2532155870751356 C4479220 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 -1 3026 -0.2435502941262419 C4479246 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER -1 3026 8.392814583724206e-05 C4479250 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA -1 3026 -0.10377989486289302 C4479270 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT -1 3026 -0.05550067565878619 C4479322 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE -1 3026 0.0 C4479333 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION -1 3026 -0.07375412682529336 C4479353 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq -1 3026 -0.0055955846438119905 C4479376 PSEUDO-TORCH SYNDROME 2 -1 3026 -0.18322580825306747 C4479410 MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY -1 3026 -0.0475797348140444 C4479416 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY -1 3026 -0.08396798376248393 C4479424 DIAMOND-BLACKFAN ANEMIA 16 -1 3026 -0.1836132172146758 C4479428 DIAMOND-BLACKFAN ANEMIA 17 -1 3026 -0.18363520996097837 C4479431 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY -1 3026 2.3619982599476508e-05 C4479452 IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES -1 3026 -0.0818611750057836 C4479504 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS -1 3026 -0.0024507882489245305 C4479510 PREMATURE OVARIAN FAILURE 13 -1 3026 -0.01556516323155734 C4479517 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD -1 3026 0.0001558736990747711 C4479520 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES -1 3026 -0.005732947048503907 C4479539 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT -1 3026 -0.05274161345327071 C4479549 STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME -1 3026 -0.10659577237546307 C4479566 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES -1 3026 0.0 C4479577 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 -1 3026 -0.04830800657212819 C4479588 IMMUNODEFICIENCY 52 -1 3026 -0.1262886240071314 C4479599 STANKIEWICZ-ISIDOR SYNDROME -1 3026 4.0403400223265606e-05 C4479603 MYOPATHY, CONGENITAL, WITH NEUROPATHY AND DEAFNESS -1 3026 -0.07841097667872673 C4479608 MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT -1 3026 0.0 C4479613 NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS -1 3026 -0.006922379181621149 C4479618 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 -1 3026 -0.4183317599110805 C4479620 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 -1 3026 -0.10593131279177966 C4479631 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES -1 3026 -0.011531372032968834 C4479636 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES -1 3026 -0.011159392289969872 C4479637 RAHMAN SYNDROME -1 3026 0.00016365448119259884 C4479652 GABRIELE-DE VRIES SYNDROME -1 3026 -0.09559126394174308 C4479653 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY -1 3026 -0.043345104474895965 C4479654 COHEN-GIBSON SYNDROME -1 3026 -0.14361466455913308 C4479655 MEIER-GORLIN SYNDROME 8 -1 3026 -0.009080034569573403 C4479656 PERRAULT SYNDROME 6 -1 3026 -0.05314321478372922 C4505072 Epileptic Syndromes -1 3026 -0.7068331447117444 C4511138 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -1 3026 -0.7068108528407743 C4511237 Butterfly-shaped pigmentary macular dystrophy -1 3026 -0.6041954193699676 C4520843 Pterygium of eye -1 3026 -0.7774408569547266 C4521678 AUDITORY NEUROPATHY AND OPTIC ATROPHY -1 3026 -0.027286261006389312 C4522164 HELIX SYNDROME -1 3026 -0.012521186555445096 C4538784 GALLOWAY-MOWAT SYNDROME 2, X-LINKED -1 3026 -0.2071279567182242 C4538795 MYOPIA 26, X-LINKED, FEMALE-LIMITED -1 3026 -0.012334925565601902 C4539778 NEPHROTIC SYNDROME 14 -1 3026 -0.02995250461689698 C4539808 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 -1 3026 -0.05540317990913955 C4539811 IMMUNODEFICIENCY 53 -1 3026 -0.03923378305317387 C4539818 SPERMATOGENIC FAILURE 19 -1 3026 0.0 C4539824 SPERMATOGENIC FAILURE 20 -1 3026 0.0 C4539828 BIRK-LANDAU-PEREZ SYNDROME -1 3026 0.0 C4539843 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 -1 3026 -0.12203190710836709 C4539886 DEAFNESS, AUTOSOMAL DOMINANT 72 -1 3026 -0.04489736262034149 C4539896 NEPHROTIC SYNDROME 15 -1 3026 -0.0646281487774171 C4539903 POLYCYSTIC KIDNEY DISEASE 5 -1 3026 -0.21524960818274655 C4539919 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 -1 3026 -0.09268931592764262 C4539927 SKRABAN-DEARDORFF SYNDROME -1 3026 0.0 C4539937 JOUBERT SYNDROME 30 -1 3026 -0.09871275477125387 C4539948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 -1 3026 -0.5006768215199137 C4539964 DEAFNESS, AUTOSOMAL RECESSIVE 107 -1 3026 0.0 C4539991 SPERMATOGENIC FAILURE 21 -1 3026 0.0 C4539997 DEAFNESS, AUTOSOMAL RECESSIVE 108 -1 3026 7.151463753407583e-05 C4540004 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 -1 3026 4.128971091732492e-05 C4540029 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 -1 3026 -0.02727161006283456 C4540034 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 -1 3026 -0.011159392289969872 C4540040 FRASER SYNDROME 3 -1 3026 -0.3658450184442994 C4540052 ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES -1 3026 -0.027286261006389312 C4540059 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY -1 3026 -0.04370856479811469 C4540086 NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY -1 3026 0.0 C4540096 MYOPATHY, MITOCHONDRIAL, AND ATAXIA -1 3026 2.8840155420484237e-06 C4540131 PILAROWSKI-BJORNSSON SYNDROME -1 3026 0.0 C4540141 OVARIAN DYSGENESIS 5 -1 3026 0.00013388737109176763 C4540156 AL KAISSI SYNDROME -1 3026 1.2226887957988986e-05 C4540171 3-METHYLGLUTACONIC ACIDURIA, TYPE IX -1 3026 -0.027272077472713353 C4540179 SPERMATOGENIC FAILURE 22 -1 3026 0.00013388737109176763 C4540192 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES -1 3026 -0.027286261006389312 C4540199 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD -1 3026 -0.18089831605861786 C4540209 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 -1 3026 -0.027286261006389312 C4540232 PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE -1 3026 0.0 C4540265 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX -1 3026 0.0 C4540266 GALLOWAY-MOWAT SYNDROME 3 -1 3026 -0.20708904227005337 C4540270 GALLOWAY-MOWAT SYNDROME 4 -1 3026 -0.2071279567182242 C4540274 GALLOWAY-MOWAT SYNDROME 5 -1 3026 -0.2071279567182242 C4540277 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION -1 3026 0.0 C4540284 OOCYTE MATURATION DEFECT 4 -1 3026 0.0 C4540327 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES -1 3026 0.0 C4540358 LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET -1 3026 0.0 C4540367 SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES -1 3026 0.0 C4540389 JOUBERT SYNDROME 33 -1 3026 -0.11424368675967911 C4540395 KLEEFSTRA SYNDROME 2 -1 3026 -0.0008951171943583754 C4540400 SPINOCEREBELLAR ATAXIA 45 -1 3026 0.0 C4540411 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 -1 3026 -0.11354407058543614 C4540434 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA -1 3026 -0.0007741567252585397 C4540493 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY -1 3026 2.85407020766959e-05 C4540496 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE -1 3026 -0.04521531775280176 C4540499 COFFIN-SIRIS SYNDROME 6 -1 3026 -0.005656382806015934 C4540520 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 -1 3026 -0.019783478672582677 C4540521 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 -1 3026 -0.007806488143371889 C0001231 ACTH Syndrome, Ectopic 155 29 0.8917446133803774 C0001614 Adrenal Cortex Diseases 155 29 0.8930542471690757 C0001622 Adrenal Gland Hyperfunction 155 29 0.6835686301495986 C0003868 Arthritis, Gouty 155 29 0.46305133568186185 C0015469 Facial paralysis 155 29 0.63050275280022 C0020488 Hypernatremia 155 29 0.5913723966697572 C0154695 Diplegic Infantile Cerebral Palsy 155 29 0.8930542471690757 C0154697 Cerebral Palsy, Quadriplegic, Infantile 155 29 0.8930542471690757 C0154698 Monoplegic Infantile Cerebral Palsy 155 29 0.8930542471690757 C0242217 Calcium Pyrophosphate Dihydrate Deposition 155 29 0.8930542471690757 C0270742 Athetoid cerebral palsy 155 29 0.8930542471690757 C0270807 Monoplegic Cerebral Palsy 155 29 0.8930542471690757 C0271738 Hypocortisolism secondary to another disorder 155 29 0.8930542471690757 C0338596 Spastic cerebral palsy 155 29 0.8930542471690757 C0340375 Subaortic stenosis 155 29 0.42098968313868534 C0342442 ACTH-dependent Cushing\'s syndrome 155 29 0.8930542471690757 C0342494 Adrenocortical hyperplasia 155 29 0.49969250988094815 C0393626 Opsoclonus-Myoclonus Syndrome 155 29 0.8930542471690757 C0394003 Cerebral Palsy, Dystonic-Rigid 155 29 0.8930542471690757 C0394007 Cerebral Palsy, Atonic 155 29 0.8930542471690757 C0553767 Congenital Cerebral Palsy 155 29 0.8930542471690757 C0574960 Sacroiliitis 155 29 0.8776843642592694 C0751024 Cerebral Palsy, Mixed 155 29 0.8930542471690757 C0751025 Cerebral Palsy, Rolandic Type 155 29 0.8930542471690757 C1096154 Kinsbourne Syndrome 155 29 0.8930542471690757 C1721017 Paraneoplastic Opsoclonus-Myoclonus Ataxia 155 29 0.8730135753135644 C1857854 Proopiomelanocortin Deficiency 155 29 0.8930542471690757 C2936444 Pyogenic Sacroiliitis 155 29 0.8930542471690757 C2936445 Septic Sacroiliitis 155 29 0.8930542471690757 C0007286 Carpal Tunnel Syndrome 701 24 0.8028438978019458 C0155127 Familial Amyloid Polyneuropathy, Type V 701 24 0.04458880582337942 C0158328 Trigger Finger Disorder 701 24 0.923439776663983 C0206245 Amyloid Neuropathies, Familial 701 24 0.9021123936287181 C0206247 Amyloid Neuropathies 701 24 0.923439776663983 C0259749 Autonomic neuropathy 701 24 0.8613429782763394 C0268380 Systemic amyloidosis 701 24 0.6363915466641327 C0268383 Familial amyloid polyneuropathy, type VI 701 24 0.923439776663983 C0268384 Familial Amyloid Neuropathy, Portuguese Type 701 24 0.9220991276576457 C0268385 Familial Amyloid Polyneuropathy, Jewish Type 701 24 0.923439776663983 C0268386 Amyloid Polyneuropathy, Swiss Type 701 24 0.923439776663983 C0339562 Amyloid of vitreous 701 24 0.923439776663983 C0342608 Amyloid Polyneuropathy, British Type (disorder) 701 24 0.7187502700570871 C0342613 Danish type familial amyloid cardiomyopathy 701 24 0.923439776663983 C0342623 Senile systemic amyloidosis 701 24 0.923439776663983 C1527337 Familial Amyloid Polyneuropathy, Appalachian Type 701 24 0.923439776663983 C1719315 Hereditary cardiac amyloidosis 701 24 0.923439776663983 C2718001 Protein Misfolding Disorders 701 24 0.923439776663983 C2750824 Dystransthyretinemic Euthyroidal Hyperthyroxinemia 701 24 0.923439776663983 C2751492 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 701 24 0.8835970678476642 C3151470 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED 701 24 0.923439776663983 C3151471 AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED 701 24 0.923439776663983 C3468338 CARPAL TUNNEL SYNDROME, FAMILIAL 701 24 0.923439776663983 C4275067 Transthyretin related familial amyloid cardiomyopathy 701 24 0.923439776663983 C0040479 Torsades de Pointes 761 20 0.04960521615724695 C0264913 Left posterior fascicular block 761 20 0.6561976047947479 C0340493 Paroxysmal familial ventricular fibrillation 761 20 0.2585759617414731 C0344431 Ventricular tachycardia, monomorphic 761 20 0.6561976047947479 C0685108 Lenegre\'s disease 761 20 0.6561976047947479 C1141890 Congenital long QT syndrome 761 20 -0.4814313865646901 C1832680 CARDIOMYOPATHY, DILATED, 1E 761 20 0.6561976047947479 C1837845 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 761 20 0.6561976047947479 C1859062 LONG QT SYNDROME 3 761 20 0.6760732736639268 C1861983 Heart Block, Nonprogressive 761 20 0.6561976047947479 C1861984 Cardiac Conduction Defect, Nonprogressive 761 20 0.6561976047947479 C1879286 Hereditary bundle branch system defect 761 20 0.4592001422253858 C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 761 20 0.6119080928300611 C2751898 Ventricular Fibrillation, Paroxysmal Familial, 1 761 20 0.5072771874691712 C2931401 Long QT syndrome type 3 761 20 0.6561976047947479 C3151464 ATRIAL FIBRILLATION, FAMILIAL, 10 761 20 0.6561976047947479 C3276240 LONG QT SYNDROME 2/3, DIGENIC 761 20 0.5148869923873103 C3276241 LONG QT SYNDROME 3/6, DIGENIC Disorder 761 20 0.42203767574616585 C3698186 Cardiac channelopathy 761 20 0.6561976047947479 C4476543 Complete heart block with broad QRS complexes 761 20 0.6561976047947479 C0155380 Dissociated Nystagmus 571 20 0.9740371723062394 C0240595 Rotary Nystagmus 571 20 0.7188603094384184 C0271382 Periodic Alternating Nystagmus 571 20 0.9740371723062394 C0271383 Symptomatic Nystagmus 571 20 0.9740371723062394 C0271384 Spontaneous Ocular Nystagmus 571 20 0.9740371723062394 C0271386 Vertical Nystagmus 571 20 0.8211496988999306 C0271387 Rebound Nystagmus 571 20 0.9740371723062394 C0271389 Jerk Nystagmus 571 20 0.9740371723062394 C0344243 See-Saw Nystagmus 571 20 0.9740371723062394 C0520731 Retraction Nystagmus 571 20 0.9740371723062394 C0521753 Temporary Nystagmus 571 20 0.9740371723062394 C0521754 Permanent Nystagmus 571 20 0.9740371723062394 C0521755 Unidirectional Nystagmus 571 20 0.9740371723062394 C0521756 Multidirectional Nystagmus 571 20 0.9740371723062394 C0521757 Conjugate Nystagmus 571 20 0.9740371723062394 C0521759 Convergence Nystagmus 571 20 0.9740371723062394 C0521760 Fatigable Positional Nystagmus 571 20 0.9740371723062394 C0521761 Non-Fatigable Positional Nystagmus 571 20 0.9740371723062394 C1854260 LEBER CONGENITAL AMAUROSIS 6 (disorder) 571 20 0.9740371723062394 C2750720 Cone-Rod Dystrophy 13 571 20 0.9740371723062394 C0019345 Herpes Labialis 62 19 0.947551417529255 C0020479 Hyperlipoproteinemia Type III 62 19 0.7531548851998167 C0036489 Sea-Blue Histiocyte Syndrome 62 19 0.8168563870397634 C0340569 Internal Carotid Artery Stenosis 62 19 0.947551417529255 C0349081 Dementia in Parkinson\'s disease 62 19 0.947551417529255 C0393664 Multiple Sclerosis, Acute Relapsing 62 19 0.947551417529255 C0595905 cortex bone disorders 62 19 0.947551417529255 C0751635 Common Carotid Artery Stenosis 62 19 0.947551417529255 C0751636 External Carotid Artery Stenosis 62 19 0.947551417529255 C0751967 Multiple Sclerosis, Relapsing-Remitting 62 19 0.6766125011495338 C1862556 Apolipoprotein E, Deficiency or Defect of 62 19 0.947551417529255 C1862557 Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d 62 19 0.947551417529255 C1862558 Familial Hyperbeta- and Prebetalipoproteinemia 62 19 0.947551417529255 C1862560 Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis 62 19 0.947551417529255 C1862561 Broad-Betalipoproteinemia 62 19 0.947551417529255 C1862562 Floating-Betalipoproteinemia 62 19 0.947551417529255 C1863051 ALZHEIMER DISEASE 2 62 19 0.7487289614634013 C2673196 LIPOPROTEIN GLOMERULOPATHY 62 19 0.9466710447551693 C4237227 Obstructive sleep apnea hypopnea 62 19 0.947551417529255 C0796207 MENTAL RETARDATION, X-LINKED 2 (disorder) 217 18 0.9407568144808138 C0796220 MENTAL RETARDATION, X-LINKED 14 217 18 0.9407568144808138 C0796226 MENTAL RETARDATION, X-LINKED 20 217 18 0.9407568144808138 C0796229 MENTAL RETARDATION, X-LINKED 23 217 18 0.9407568144808138 C1845144 Mental Retardation, X-Linked 92 217 18 0.9407568144808138 C1845286 MENTAL RETARDATION, X-LINKED 82 217 18 0.9407568144808138 C1845297 MENTAL RETARDATION, X-LINKED 84 217 18 0.9407568144808138 C1845499 MENTAL RETARDATION, X-LINKED 77 217 18 0.9407568144808138 C1845531 MENTAL RETARDATION, X-LINKED 81 217 18 0.9407568144808138 C1845810 MENTAL RETARDATION, X-LINKED 42 217 18 0.9407568144808138 C1845860 MENTAL RETARDATION, X-LINKED 73 217 18 0.9407568144808138 C1845889 MENTAL RETARDATION, X-LINKED 53 217 18 0.9407568144808138 C1846038 MENTAL RETARDATION, X-LINKED 72 217 18 0.7974229647634385 C1848087 MENTAL RETARDATION, X-LINKED 50 217 18 0.9407568144808138 C2678034 MENTAL RETARDATION, X-LINKED 95 217 18 0.9407568144808138 C3275443 MENTAL RETARDATION, X-LINKED 90 (disorder) 217 18 0.6438841517661003 C3275444 MENTAL RETARDATION, X-LINKED 88 (disorder) 217 18 0.9407568144808138 C3887939 MENTAL RETARDATION, X-LINKED 41 217 18 0.600161968928229 C0001889 Akinetic Mutism 130 18 0.880517536873952 C0017495 Gerstmann-Straussler-Scheinker Disease 130 18 0.868073046561852 C0022802 Kuru 130 18 0.880517536873952 C0162534 Prion Diseases 130 18 0.5639481907382818 C0206042 Fatal Familial Insomnia 130 18 0.880517536873952 C0751645 Human Transmissible Spongiform Encephalopathies, Inherited 130 18 0.880517536873952 C1135993 Wasting Disease, Chronic 130 18 0.880517536873952 C1847650 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 130 18 0.880517536873952 C1852467 Creutzfeldt-Jakob Disease, Sporadic 130 18 0.858696393031489 C1864112 HUNTINGTON DISEASE-LIKE 1 130 18 0.880517536873952 C1969957 Creutzfeldt-Jakob Disease, Heidenhain Variant 130 18 0.880517536873952 C2349757 Iatrogenic Jakob-Creutzfeldt disease 130 18 0.548250420431056 C2900450 Other Creutzfeldt-Jakob disease 130 18 0.7910919249868396 C2931022 Amyloidosis, Cerebral, with Spongiform Encephalopathy 130 18 0.880517536873952 C2931859 Acquired CJD 130 18 0.12289884470083402 C3805618 CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED 130 18 0.880517536873952 C4275003 Familial Creutzfeldt-Jakob 130 18 0.880517536873952 C4303482 Familial Alzheimer-like prion disease 130 18 0.880517536873952 C0027145 Myxedema 562 17 0.8680601743049992 C0040149 Subacute thyroiditis 562 17 0.8680601743049992 C0040156 Thyrotoxicosis 562 17 0.2650637609359388 C0271790 Subclinical hypothyroidism 562 17 0.8597538955951437 C0271791 Severe hypothyroidism 562 17 0.6205795358777723 C0271814 Silent thyroiditis 562 17 0.8680601743049992 C0302840 Toxic thyroid adenoma 562 17 0.8680601743049992 C0342114 Diffuse goiter 562 17 0.8680601743049992 C0342122 Toxic diffuse goiter 562 17 0.8680601743049992 C0700502 Acquired hypothyroidism 562 17 0.7958214371441152 C0869147 Neonatal hyperthyroidism 562 17 0.8680601743049992 C0920350 Autoimmune thyroiditis 562 17 -0.04821207215882876 C1262098 Congenital hyperthyroidism 562 17 0.8680601743049992 C1836706 Hyperthyroidism, Nonautoimmune 562 17 0.8680601743049992 C1863959 Hyperthyroidism, Familial Gestational 562 17 0.8680601743049992 C2940785 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3 562 17 0.8680601743049992 C3493776 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 562 17 0.8536636567972329 C0014547 Epilepsies, Partial 1039 16 0.39604734328491253 C0086240 Epilepsy, Simple Partial 1039 16 0.9183429424175625 C0234974 Simple Partial Seizures 1039 16 0.7989936344921901 C0270820 Gelastic Epilepsy 1039 16 0.9183429424175625 C0270847 Benign Focal Epilepsy, Childhood 1039 16 0.9183429424175625 C0393675 Childhood Benign Occipital Epilepsy 1039 16 0.9183429424175625 C0393679 Amygdalo-Hippocampal Epilepsy 1039 16 0.9183429424175625 C0393681 Rhinencephalic Epilepsy 1039 16 0.9183429424175625 C0393691 Occipital Lobe Epilepsy 1039 16 0.9183429424175625 C0751112 Subclinical Seizure 1039 16 0.9183429424175625 C0751113 Uncinate Seizures 1039 16 0.9183429424175625 C0751115 Digestive Epilepsy 1039 16 0.9183429424175625 C1851549 Benign Occipital Epilepsy 1039 16 0.9183429424175625 C3494976 Migrating partial seizures in infancy 1039 16 0.7057371472318906 C3554195 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 1039 16 0.7989936344921899 C3554306 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 1039 16 0.8997102131297593 C0022333 Jacksonian Seizure 1976 15 0.9789328826113658 C0149958 Complex partial seizures 1976 15 0.9709321206286015 C0234533 Generalized seizures 1976 15 0.971800977558953 C0234535 Seizures, Clonic 1976 15 0.9789366277704856 C0270824 Visual seizure 1976 15 0.7895829692997142 C0270846 Epileptic drop attack 1976 15 0.9713198860612889 C0422853 Olfactory seizure 1976 15 0.9789328826113658 C0422855 Vertiginous seizure 1976 15 0.9789328826113658 C0494475 Tonic - clonic seizures 1976 15 0.940252008368818 C0751110 Single Seizure 1976 15 0.9789328826113658 C0751123 Atonic Absence Seizures 1976 15 0.9789328826113658 C0751495 Seizures, Focal 1976 15 0.96689874902201 C3495874 Nonepileptic Seizures 1976 15 0.9789328826113658 C4317109 Epileptic Seizures 1976 15 0.9788980572659038 C4505436 Generalized Absence Seizures 1976 15 0.9789328826113658 C0019021 Hemoglobin C Disease 363 15 1.0 C0221019 Sickle cell-beta-thalassemia 363 15 1.0 C0271986 delta beta^0^ Thalassemia 363 15 1.0 C0271987 ^A^gamma delta beta^0^ thalassemia 363 15 1.0 C0272080 Hemoglobin D disease 363 15 1.0 C0272084 Hemoglobin SD disease 363 15 1.0 C0272085 Sickle cell-hemoglobin E disease 363 15 1.0 C0472769 Hemoglobin Lepore trait 363 15 1.0 C0472777 Hemoglobin E/beta thalassemia disease 363 15 1.0 C0599528 beta thalassemia major anemia 363 15 1.0 C0857812 Sickle cell-beta^+^-thalassemia 363 15 1.0 C0869532 Beta thalassemia minor 363 15 1.0 C1264000 Sickle cell-Hemoglobin O Arab disease 363 15 1.0 C1858990 Beta Thalassemia, Dominant Inclusion Body Type 363 15 1.0 C3161373 Dominant thalassemia 363 15 1.0 C0029132 Disorder of the optic nerve 281 15 0.6301434130279467 C0152112 Foster-Kennedy Syndrome 281 15 0.7499787358115191 C0154971 Presenile cataract 281 15 0.6721328702701199 C0155299 Coloboma of optic disc 281 15 0.4842581372775531 C0338502 Hypoplasia of the optic nerve 281 15 0.21257798129024685 C0521573 Coloboma of eyelid 281 15 0.04564369362472322 C0549307 Morning glory syndrome 281 15 0.7499787358115191 C0751402 Optic Disk Disorders 281 15 0.7499787358115191 C1833797 Optic Nerve Hypoplasia, Bilateral 281 15 0.7499787358115191 C1833798 Optic Nerve Aplasia, Bilateral 281 15 0.7499787358115191 C1835698 Keratitis, hereditary 281 15 0.7499787358115191 C2931644 O\'Donnell Pappas syndrome 281 15 0.7499787358115191 C3554721 Morning glory anomaly 281 15 0.6160530614576153 C3805604 FOVEAL HYPOPLASIA 1 281 15 0.7499787358115191 C4310809 ANTERIOR SEGMENT DYSGENESIS 5 281 15 0.7499787358115191 C0235820 Neonatal encephalopathy 1324 14 0.9477127756007206 C0751349 Myoclonus, Eyelid 1324 14 0.550376361912529 C0796222 Mental Retardation, X-Linked 16 1324 14 0.9477127756007206 C1442978 Hernia of abdominal wall 1324 14 0.9477127756007206 C1510417 Gait Apraxia 1324 14 0.9477127756007206 C1839332 Rett Syndrome, Preserved Speech Variant 1324 14 0.9477127756007206 C1848211 Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism 1324 14 0.9477127756007206 C1968550 Mental Retardation, X-Linked, Syndromic 13 1324 14 0.9477127756007206 C1968551 Mental Retardation, X-Linked 79 1324 14 0.9477127756007206 C1968552 Mental Retardation, X-Linked, With Spasticity 1324 14 0.9477127756007206 C1968556 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 1324 14 0.9477127756007206 C2677682 Rett Syndrome, Zappella Variant 1324 14 0.9477127756007206 C3713418 Ppm-X Syndrome 1324 14 0.9477127756007206 C3714043 Trisomy Xq28 1324 14 0.9477127756007206 C0393593 Dystonia Disorders 951 14 0.6982519975028805 C0393598 Idiopathic familial dystonia 951 14 0.7679777162686043 C0743332 Focal Dystonia 951 14 0.9201450282110738 C0752197 Adult-Onset Dystonias 951 14 0.9589805064494471 C0752198 Adult-Onset Idiopathic Focal Dystonias 951 14 0.9592504244316343 C0752199 Adult-Onset Idiopathic Torsion Dystonias 951 14 0.9592504244316343 C0752200 Autosomal Dominant Familial Dystonia 951 14 0.9592504244316343 C0752201 Autosomal Recessive Familial Dystonia 951 14 0.9592504244316343 C0752202 Childhood Onset Dystonias 951 14 0.9583412898482454 C0752203 Dystonia, Primary 951 14 0.9427935104653784 C0752205 Dystonia, Secondary 951 14 0.9594463549465768 C0752206 Dystonias, Sporadic 951 14 0.9591923466269677 C0752207 Familial Dystonia 951 14 0.9117739505549026 C4316810 Writer\'s Cramp 951 14 0.9592504244316343 C0037188 Sinoatrial Block 183 14 0.9732481556666437 C0432291 Mandibuloacral dysostosis 183 14 0.7458752608412959 C0796031 Malouf syndrome 183 14 0.9732481556666437 C0796083 Najjar syndrome 183 14 0.9732481556666437 C1834653 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 183 14 0.7792889807876336 C1854154 Charcot-Marie-Tooth disease, Type 2B1 183 14 0.9732481556666437 C1857829 Heart-hand syndrome, Slovenian type 183 14 0.9732481556666437 C2750035 Emery-Dreifuss Muscular Dystrophy 3 183 14 0.9732481556666437 C2750285 Progeria Syndrome, Childhood-Onset 183 14 0.9732481556666437 C2750785 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 183 14 0.9732481556666437 C3266164 Dropped head syndrome 183 14 0.9732481556666437 C4021573 Patchy hypo- and hyperpigmentation 183 14 0.9732481556666437 C4021684 Sclerosis of hand bone 183 14 0.9732481556666437 C4275075 Atypical Werner syndrome 183 14 0.9694821351266303 C0033377 Ptosis 1196 13 0.9182382953840843 C0154208 Disorder of endocrine ovary 1196 13 0.7066692397622093 C0220663 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 1196 13 0.9829110049058106 C1837008 PREMATURE OVARIAN FAILURE 3 (disorder) 1196 13 0.9829110049058106 C1862260 BPES, TYPE I 1196 13 0.9829110049058106 C1862261 BPES, TYPE II 1196 13 0.9829110049058106 C1862262 Bpes With Ovarian Failure 1196 13 0.9829110049058106 C1862263 Bpes Without Ovarian Failure 1196 13 0.9829110049058106 C1862264 Bpes With Duane Retraction Syndrome 1196 13 0.9829110049058106 C1970106 Bpes, Type I, Autosomal Recessive 1196 13 0.9829110049058106 C2931135 Blepharophimosis syndrome type 1 1196 13 0.9829110049058106 C2931136 Blepharophimosis syndrome type 2 1196 13 0.9829110049058106 C3714208 Blepharophimosis, Ptosis, and Epicanthus Inversus Type II 1196 13 0.9829110049058106 C0008526 Choroiditis 507 13 0.8004782025957944 C0020875 Ileal Diseases 507 13 0.7697948998824663 C0022081 Iritis 507 13 0.7697948998824663 C0272192 Familial eosinophilia 507 13 0.8004782025957944 C0275551 Primary bacterial peritonitis 507 13 0.49002046160008855 C0341268 Disorder of small intestine 507 13 0.8004782025957944 C0376620 Pouchitis 507 13 0.5543677376628083 C1836122 SARCOIDOSIS, EARLY-ONSET 507 13 0.8004782025957944 C1853438 INFLAMMATORY BOWEL DISEASE 5 507 13 0.44261517234695835 C1861303 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 507 13 0.7999739921000218 C2931133 Pediatric Crohn\'s disease 507 13 0.4326116375734043 C4024795 Nongranulomatous uveitis 507 13 0.8004782025957944 C4310620 YAO SYNDROME 507 13 0.8004782025957944 C0024440 Macular Edema, Cystoid 22 13 0.614760960454895 C0151814 Coronary Occlusion 22 13 0.7102161850041155 C0151970 Ulcer of esophagus 22 13 0.8079605355986446 C0154830 Proliferative diabetic retinopathy 22 13 0.4046215313223032 C0154916 Rubeosis iridis 22 13 0.8079605355986446 C0271051 Macular retinal edema 22 13 0.7170523466438684 C0271084 Exudative age-related macular degeneration 22 13 0.7292848099415582 C0271178 Irvine-Gass Syndrome 22 13 0.8079605355986446 C0600518 Choroidal Neovascularization 22 13 0.6499477350730086 C0730285 Diabetic macular edema 22 13 0.5705128017554774 C0741032 Refractory angina 22 13 0.8079605355986446 C1456868 Diabetic foot ulcer 22 13 0.6488481141584814 C4068858 Avascular retina 22 13 0.8079605355986446 C0023234 Legg-Calve-Perthes Disease 6 13 0.7868469387818716 C0521770 Asteroid hyalosis 6 13 0.9640554617826333 C0700635 Strudwick syndrome 6 13 0.7546808215812152 C0796173 Spondyloperipheral dysplasia short ulna 6 13 0.9640554617826333 C1835437 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 6 13 0.9640554617826333 C1836080 Stickler Syndrome, Type I, Nonsyndromic Ocular 6 13 0.9640554617826333 C1836081 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 6 13 0.9640554617826333 C1851536 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 6 13 0.9640554617826333 C1852989 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 6 13 0.9640554617826333 C1858079 Osteoarthritis with Mild Chondrodysplasia 6 13 0.9640554617826333 C1866688 Spondylometaphyseal dysplasia, Algerian type 6 13 0.9640554617826333 C4225273 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 6 13 0.9640554617826333 C4302548 Dysspondyloenchondromatosis 6 13 0.9640554617826333 C0019562 Von Hippel-Lindau Syndrome 1349 12 0.8306391344771956 C0037859 Spermatocele 1349 12 0.3133829326841185 C0221276 Relative erythrocytosis 1349 12 0.9526266257878601 C0272144 Erythrocytosis due to tissue hypoxemia 1349 12 0.9526266257878601 C0391869 Polycythemia due to excess erythopoetin production 1349 12 0.9526266257878601 C0541719 Stress polycythemia 1349 12 0.9526266257878601 C0865275 Polycythemia due to fall in plasma volume 1349 12 0.9526266257878601 C0865276 Polycythemia due to high altitude 1349 12 0.9526266257878601 C1837915 ERYTHROCYTOSIS, FAMILIAL, 2 1349 12 0.9526266257878601 C2674004 VON HIPPEL-LINDAU SYNDROME, MODIFIERS OF 1349 12 0.9526266257878601 C2873823 Polycythemia due to erythropoietin 1349 12 0.9526266257878601 C2873824 Polycythemia due to stress 1349 12 0.9526266257878601 C0221055 Paramyotonia Congenita (disorder) 773 12 0.9993405043486447 C0268445 Normokalemic Periodic Paralysis 773 12 0.9993405043486447 C0752355 Myotonia Fluctuans (disorder) 773 12 0.9993405043486447 C1868433 Normokalemic Periodic Paralysis, Potassium-Sensitive 773 12 0.9993405043486447 C1868619 Paramyotonia Congenita Without Cold Paralysis 773 12 0.9993405043486447 C2750061 Hypokalemic Periodic Paralysis, Type 2 773 12 0.9993405043486447 C2931826 Potassium aggravated myotonia 773 12 0.9927818852737179 C3149517 LARYNGOSPASM, SEVERE NEONATAL EPISODIC 773 12 0.9993405043486447 C3280112 MYASTHENIC SYNDROME, CONGENITAL, 16 773 12 0.9993405043486447 C3489447 Hyperkalemic Periodic Paralysis Type 2 773 12 0.9993405043486447 C4023179 Paradoxical myotonia 773 12 0.9993405043486447 C4275008 Acetazolamide responsive myotonia 773 12 0.9993405043486447 C0042974 von Willebrand Disease 142 12 0.026664763351565465 C0085411 Angiodysplasia 142 12 0.8847564051189242 C0267370 Angiodysplasia of colon 142 12 0.8847564051189242 C0272355 von Willebrand disease, type IIC 142 12 0.8847564051189242 C1264039 von Willebrand Disease, Type 1 142 12 0.8833237979197212 C1264040 von Willebrand Disease, Type 2 142 12 0.8847564051189242 C1264041 von Willebrand Disease, Type 3 142 12 0.886221121444255 C1282968 von Willebrand Disease, Type 2A 142 12 0.8871952082542592 C1282971 von Willebrand Disease, Type 2B 142 12 0.8902910182284697 C1282974 von Willebrand disease type 2M 142 12 0.8847564051189242 C1282975 von Willebrand Disease, Type 2N 142 12 0.8860578969850459 C3641106 Congenital Bleeding Disorder 142 12 0.6644661926356533 C0035312 Retinal Drusen 94 12 0.9997606633874201 C0151565 Hemorrhagic colitis 94 12 0.9997606633874201 C0235618 Proliferative glomerulonephritis 94 12 0.9997606633874201 C0398777 Complement Factor H Deficiency 94 12 0.9997606633874201 C0730295 BASAL LAMINAR DRUSEN (disorder) 94 12 0.9973717360343749 C0730314 Chronic central serous chorioretinopathy 94 12 0.9997606633874201 C0853888 Hypocomplementaemia 94 12 0.9997606633874201 C1268937 Diarrhea-negative hemolytic uremic syndrome 94 12 0.9997606633874201 C1533060 Multifocal choroiditis 94 12 0.9997606633874201 C1720452 Soft drusen 94 12 0.9997606633874201 C1853147 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 94 12 0.9997606633874201 C1856143 HEMOLYTIC UREMIC SYNDROME, TYPICAL 94 12 0.9997606633874201 C0030409 Paracoccidioidomycosis 61 12 0.9361544369942634 C0032749 Post-kala-azar dermal leishmaniasis 61 12 0.5850735930557925 C0043407 Yersinia infections 61 12 0.9361544369942634 C0085311 Diffuse cutaneous leishmaniasis 61 12 0.9361544369942634 C0267375 Chronic colitis 61 12 0.8359086116075667 C0267541 Typhlocolitis 61 12 0.9361544369942634 C0948780 Rhinosinusitis 61 12 0.9361544369942634 C1719498 Generalized chronic periodontitis 61 12 0.9361544369942634 C1720795 Acute Bacterial Prostatitis 61 12 0.9361544369942634 C1720796 Asymptomatic Inflammatory Prostatitis 61 12 0.9361544369942634 C1720797 Chronic Bacterial Prostatitis 61 12 0.9361544369942634 C1723764 Chronic Prostatitis with Chronic Pelvic Pain Syndrome 61 12 0.9361544369942634 C0740385 Aneurysm, Middle Cerebral Artery 808 11 0.6714273968825109 C0740386 Aneurysm, Anterior Communicating Artery 808 11 0.6714273968825109 C0740387 Aneurysm, Posterior Cerebral Artery 808 11 0.6714273968825109 C0751000 Aneurysm, Anterior Cerebral Artery 808 11 0.6714273968825109 C0751001 Aneurysm, Basilar Artery 808 11 0.6714273968825109 C0751003 Brain Aneurysm 808 11 0.37870250515460463 C0751004 Giant Intracranial Aneurysm 808 11 0.6714273968825109 C0751005 Mycotic Aneurysm, Intracranial 808 11 0.6714273968825109 C0917996 Cerebral Aneurysm 808 11 0.5486628484746809 C1290398 Cerebral arterial aneurysm 808 11 -0.2623549887524338 C1856251 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 808 11 0.6714273968825109 C0023944 Locked-In Syndrome 690 11 0.9471990763674978 C0270933 Inflammatory neuropathy 690 11 0.3133082460602747 C0393814 Hereditary liability to pressure palsies 690 11 0.940500904712082 C0751460 Flaccid Quadriplegia 690 11 0.9471990763674978 C0751461 Paralysis, Spinal, Quadriplegic 690 11 0.9471990763674978 C1861669 Charcot-Marie-Tooth disease and deafness 690 11 0.9471990763674978 C2931686 Charcot-Marie-Tooth disease, Type 1E 690 11 0.9471990763674978 C3495591 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 690 11 0.9471990763674978 C3542501 Acute inflammatory demyelinating polyneuropathy 690 11 0.9459716713743744 C4020904 Myelin tomacula 690 11 0.9471990763674978 C4083008 Guillain-Barre Syndrome, Familial 690 11 0.9471990763674978 C0039373 Tay-Sachs Disease 600 11 0.9792245946550844 C0268276 Juvenile GM 2 gangliosidosis 600 11 0.9980248121615493 C0282220 Amaurotic Familial Idiocy 600 11 0.9980248121615493 C1848913 Tay-Sachs Disease, Juvenile 600 11 0.9980248121615493 C1848914 Hexosaminidase A Deficiency, Adult Type 600 11 0.9980248121615493 C1848915 Gm2-Gangliosidosis, Adult Chronic Type 600 11 0.9980248121615493 C1848916 Tay-Sachs Disease, Variant B1 600 11 0.9980248121615493 C1848917 Tay-Sachs Disease, Pseudo-AB Variant 600 11 0.9980248121615493 C1848922 Hexosaminidase alpha-Subunit Deficiency (Variant B) 600 11 0.9980248121615493 C2749283 Gm2-Gangliosidosis, Variant B1 600 11 0.9980248121615493 C2874270 GM2-GANGLIOSIDOSIS, ADULT 600 11 0.9980248121615493 C0162281 Corneal deposit 528 11 0.9998287549904908 C0271285 Epithelial basement membrane dystrophy 528 11 0.9998287549904908 C0339278 Reis-Bucklers\' corneal dystrophy 528 11 0.9998287549904908 C0521723 Corneal dystrophy, epithelial basement membrane 528 11 0.9998287549904908 C0544848 Dystrophy, granular 528 11 0.9998287549904908 C1275685 Avellino corneal dystrophy 528 11 0.998712044918426 C1562894 Thiel-Behnke corneal dystrophy 528 11 0.9994048100703302 C1641846 Groenouw corneal dystrophy type I (disorder) 528 11 0.9998287549904908 C1690006 Lattice corneal dystrophy Type I 528 11 0.9998287549904908 C1837974 Corneal Dystrophy, Lattice Type IIIA 528 11 0.9998287549904908 C2939149 Amyloid of cornea 528 11 0.9998287549904908 C0012736 Dissecting aortic aneurysm 450 11 0.9962367115472965 C0023316 Lens Subluxation 450 11 0.9962367115472965 C0410787 Hereditary Connective Tissue Disorder 450 11 0.9962367115472965 C0856747 Aneurysm of ascending aorta 450 11 0.9962367115472965 C1858556 OVERLAP CONNECTIVE TISSUE DISEASE 450 11 0.9635070861983746 C1861456 Stiff Skin Syndrome 450 11 0.9962367115472965 C2931588 GEMSS syndrome 450 11 0.9962367115472965 C3280054 GELEOPHYSIC DYSPLASIA 2 450 11 0.9962367115472965 C3541518 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT 450 11 0.9962367115472965 C4021645 Recurrent abdominal hernia 450 11 0.9962367115472965 C4310796 MARFAN LIPODYSTROPHY SYNDROME 450 11 0.9962367115472965 C0039338 Taste Disorders 406 11 0.9999999999999993 C0234297 Taste Disorder, Primary 406 11 0.9999999999999993 C0234298 Taste Disorder, Primary, Sweet 406 11 0.9999999999999993 C0234299 Taste Disorder, Primary, Salt 406 11 0.9999999999999993 C0234300 Taste Disorder, Primary, Bitter 406 11 0.9999999999999993 C0234302 Taste Disorder, Anterior Tongue 406 11 0.9999999999999993 C0234303 Taste Disorder, Secondary 406 11 0.9999999999999993 C0234304 Taste Disorder, Secondary, Sweet 406 11 0.9999999999999993 C0234305 Taste Disorder, Secondary, Salt 406 11 0.9999999999999993 C0234306 Taste Disorder, Secondary, Bitter 406 11 0.9999999999999993 C0234319 Taste Disorder, Posterior Tongue 406 11 0.9999999999999993 C0018204 Granulomatous prostatitis 103 11 0.8735624215362114 C0023351 Tuberculoid leprosy 103 11 0.8735624215362114 C0041466 Typhoid Fever 103 11 0.8794987616039337 C0151450 Secondary Sjögren\'s syndrome 103 11 0.8735624215362114 C0240903 Rheumatoid Vasculitis 103 11 0.8735624215362114 C0242993 Nephropathia Epidemica 103 11 0.5736702590571869 C0393847 Multifocal motor neuropathy 103 11 0.8735624215362114 C0409651 Seropositive rheumatoid arthritis 103 11 0.22365038115559094 C0577620 Nut Hypersensitivity 103 11 0.8735624215362114 C1843273 Tubulointerstitial nephritis and uveitis 103 11 0.8735624215362114 C3899281 Early Inflammatory Arthritis 103 11 0.8735624215362114 C0021295 Infant, Premature, Diseases 37 11 0.742036900172199 C0028841 Ocular Hypotension 37 11 0.742036900172199 C0042075 Urologic Diseases 37 11 0.742036900172199 C0152105 Hypertensive heart disease 37 11 0.742036900172199 C0740447 Diabetic peripheral neuropathy 37 11 0.742036900172199 C0741949 Cardiovascular Pathology 37 11 0.6705414037844284 C1096293 Macroangiopathy 37 11 0.48674500112538505 C1135196 Heart Failure, Diastolic 37 11 -0.2529024267279328 C1301700 Cardiovascular morbidity 37 11 0.24729745995444893 C1533172 Infantile nystagmus syndrome 37 11 0.742036900172199 C2349195 Acute Anterior Wall Myocardial Infarction 37 11 0.742036900172199 C0043124 West Nile Fever 1482 10 0.8920888999971543 C0282312 Bubonic Plague 1482 10 0.8940559888874083 C0404521 Infective vaginitis 1482 10 0.8940559888874083 C0497169 hiv-infection/aids 1482 10 0.6285070490394137 C0751583 Encephalitis, West Nile Fever 1482 10 0.8915316185351188 C0751584 West Nile Fever Meningitis 1482 10 0.8940559888874083 C0751585 West Nile Fever Meningoencephalitis 1482 10 0.8940559888874083 C0751586 West Nile Fever Myelitis 1482 10 0.8940559888874083 C0948192 Primary infection NOS 1482 10 0.31706770862955735 C2675864 DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder) 1482 10 0.8940559888874083 C0037023 Sialadenitis 1391 10 0.9926755805495429 C0157843 Infective arthritis of shoulder region 1391 10 0.9991842395001611 C0157844 Unspecified infective arthritis involving upper arm 1391 10 0.9991842395001611 C0157845 Unspecified infective arthritis involving forearm 1391 10 0.9991842395001611 C0157846 Unspecified infective arthritis involving hand 1391 10 0.9991842395001611 C0157847 Unspecified infective arthritis, pelvic region and thigh 1391 10 0.9991842395001611 C0157848 Unspecified infective arthritis involving lower leg 1391 10 0.9991842395001611 C0157849 Unspecified infective arthritis, ankle and foot 1391 10 0.9991842395001611 C0162526 AIDS-Related Opportunistic Infections 1391 10 0.9991842395001611 C3151379 OKT4 EPITOPE DEFICIENCY 1391 10 0.9991842395001611 C0042842 Vitamin A Deficiency 1309 10 -0.06260598941674932 C0152455 Keratomalacia 1309 10 0.7743075307898749 C0271271 Xerotic keratitis 1309 10 0.7743075307898749 C0406481 Comedonal acne 1309 10 0.7743075307898749 C0856901 Retinol Deficiency 1309 10 0.7743075307898749 C3151228 RETINITIS PIGMENTOSA 38 (disorder) 1309 10 -0.1846262653818366 C3553016 Peripheral retinal atrophy 1309 10 0.5935669506391431 C3554593 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME 1309 10 0.7743075307898749 C4225330 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 1309 10 0.7743075307898749 C4477027 Comedogenic acne 1309 10 0.7743075307898749 C0004712 Balo\'s Concentric Sclerosis 1143 10 0.8880149060978981 C0007795 Diffuse Cerebral Sclerosis of Schilder 1143 10 0.5820396073909369 C0205710 Alpers Syndrome (disorder) 1143 10 0.8880149060978981 C1843852 SPINOCEREBELLAR ATAXIA WITH EPILEPSY 1143 10 0.8880149060978981 C1850303 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1143 10 0.6212320864996954 C3150914 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 1143 10 0.8880149060978981 C3683791 Ataxia Neuropathy Spectrum 1143 10 0.8880149060978981 C4225153 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 1143 10 0.8880149060978981 C4225409 EPILEPSY, PROGRESSIVE MYOCLONIC, 5, FORMERLY 1143 10 0.8880149060978981 C4225440 EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY 1143 10 0.8880149060978981 C0085541 Epilepsy, Frontal Lobe 1038 10 0.7635039684443805 C0393671 Frontal Epilepsy, Benign, Childhood 1038 10 0.7113562741373897 C0393683 Epilepsy, Supplementary Motor 1038 10 0.7113562741373897 C0393684 Epilepsy, Cingulate 1038 10 0.7113562741373897 C0393688 Epilepsy, Opercular 1038 10 0.7113562741373897 C0751642 Epilepsy, Anterior Fronto-Polar 1038 10 0.7113562741373897 C0751643 Epilepsy, Orbito-Frontal 1038 10 0.7113562741373897 C1838049 Epilepsy, Nocturnal Frontal Lobe, Type 1 1038 10 0.12028915682573223 C1854335 Epilepsy, Nocturnal Frontal Lobe, Type 3 1038 10 0.11825610529682665 C3696898 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1038 10 0.3706891001071476 C0079293 Epidermolysis Bullosa Acquisita 1011 10 1.0 C0238115 Boerhaave syndrome 1011 10 1.0 C1275114 Epidermolysis Bullosa Pruriginosa 1011 10 1.0 C1843477 Epidermolysis Bullosa Simplex Superficialis 1011 10 1.0 C1843761 TOENAIL DYSTROPHY, ISOLATED 1011 10 1.0 C1851573 Transient bullous dermolysis of the newborn 1011 10 1.0 C2675683 Epidermolysis Bullosa Dystrophica With Subcorneal Cleavage 1011 10 1.0 C4302547 Dystrophic epidermolysis bullosa nails only 1011 10 1.0 C4511056 Centripetalis recessive dystrophic epidermolysis bullosa 1011 10 1.0 C4518087 Acral dystrophic epidermolysis bullosa 1011 10 1.0 C0016064 Fibrous Dysplasia, Monostotic 612 10 0.8694170526648481 C0033806 Pseudohypoparathyroidism 612 10 0.20871617834641756 C0033835 Pseudopseudohypoparathyroidism 612 10 0.8795117884228904 C0242292 McCune-Albright Syndrome 612 10 0.858137083114479 C0334041 Osteoma cutis 612 10 0.8694170526648481 C0342198 Thyrotoxicosis due to pituitary thyroid hormone resistance 612 10 0.8694170526648481 C2931404 Albright\'s hereditary osteodystrophy 612 10 0.6592429021798056 C2932716 Pseudohypoparathyroidism Type 1C 612 10 0.8694170526648481 C3494506 Pseudohypoparathyroidism, Type Ia 612 10 0.7070873258715484 C3697137 Fibrous dysplasia of bone with intramuscular myxoma 612 10 0.8694170526648481 C0026919 Mycobacterium Infections, Nontuberculous 523 10 1.0 C0152491 Salmonella osteomyelitis 523 10 1.0 C0694566 Atypical Mycobacterial Infection, Disseminated 523 10 1.0 C1112429 Interferon gamma receptor deficiency 523 10 1.0 C1608955 Mycobacterium abscessus Infection 523 10 1.0 C2930924 Interferon gamma, receptor 1, deficiency 523 10 1.0 C3266863 Atypical Mycobacteriosis, Familial 523 10 1.0 C4011949 IMMUNODEFICIENCY 27A 523 10 1.0 C4014863 IMMUNODEFICIENCY 27B 523 10 1.0 C4288927 IFN-gamma Receptor 1 Deficiency 523 10 1.0 C0003907 Arthus Reaction 485 10 0.6000971160313326 C0014534 Epididymitis 485 10 0.4276040266714033 C0221026 X-linked agammaglobulinemia 485 10 0.7040317281813655 C0241932 X-linked hypogammaglobulinemia 485 10 0.7401613957638927 C0398764 Complement Factor D Deficiency 485 10 -0.19548728776622476 C0472813 X-linked agammaglobulinemia with growth hormone deficiency 485 10 0.6535077525654484 C0522274 Humoral immune defect 485 10 0.7419300598689362 C1843995 Enteroviral hepatitis 485 10 0.7419300598689362 C3806660 Enteroviral dermatomyositis syndrome 485 10 0.7419300598689362 C4280547 Infected joint 485 10 0.7419300598689362 C1300256 Thanatophoric dysplasia, type 1 252 10 0.9998494245230437 C1300257 Thanatophoric dysplasia, type 2 252 10 0.999239852258784 C1535953 Stenosis of foramen magnum 252 10 0.9998494245230437 C1834928 Cloverleaf skull micromelia thoracic dysplasia 252 10 0.9998494245230437 C1851152 SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS 252 10 0.9998494245230437 C1864436 Muenke Syndrome 252 10 0.9998494245230437 C1864852 CATSHL syndrome 252 10 0.9998494245230437 C1868678 THANATOPHORIC DYSPLASIA, TYPE I (disorder) 252 10 0.9992549844184199 C2677099 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 252 10 0.9998494245230437 C2931282 Skeletal dysplasia, San Diego type 252 10 0.9998494245230437 C0002963 Angina Pectoris, Variant 163 10 0.7581173950476024 C0018036 Hypertension, Goldblatt 163 10 0.7581173950476024 C0021845 Intestinal Perforation 163 10 0.03238384849988696 C0151636 Premature ventricular contractions 163 10 0.5106636687436907 C0162869 Aneurysm, Ruptured 163 10 0.7581173950476024 C0742343 Acute Chest Syndrome 163 10 0.38344148119269883 C0852036 Pregnancy associated hypertension 163 10 -0.13236555590096996 C1257763 Overnutrition 163 10 0.7525548746269481 C1442839 Hypervitaminosis D 163 10 0.73652669314996 C2931193 Prinzmetal\'s variant angina 163 10 0.7581173950476024 C0011389 Dental Plaque 64 10 1.0 C0265101 Carotid artery occlusion 64 10 1.0 C0520574 Cerebrovascular amyloidosis 64 10 1.0 C2751494 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT 64 10 1.0 C2751536 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 64 10 1.0 C2931672 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 64 10 1.0 C3888307 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT 64 10 1.0 C3888308 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT 64 10 1.0 C3888309 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT 64 10 1.0 C4025264 Recurrent cerebral hemorrhage 64 10 1.0 C0017923 Glycogen Storage Disease Type IV 1943 9 0.9993425852388222 C1849722 Polyglucosan Body Disease, Adult Form 1943 9 0.9999178147408435 C1856301 GSD IV, Classic Hepatic 1943 9 0.9999178147408435 C1856302 GSD IV, Nonprogressive Hepatic 1943 9 0.9999178147408435 C1856303 GSD IV, Neuromuscular Form, Fatal Perinatal 1943 9 0.9999178147408435 C1856304 GSD IV, Neuromuscular Form, Congenital 1943 9 0.9999178147408435 C1856305 GSD IV, Neuromuscular Form, Childhood 1943 9 0.9999178147408435 C1856306 GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 1943 9 0.9999178147408435 C2936914 Cirrhosis, familial, with deposition of abnormal glycogen 1943 9 0.9999178147408435 C0011882 Diabetic Neuropathies 1713 9 0.7070476409930305 C0271673 Symmetric Diabetic Proximal Motor Neuropathy 1713 9 0.9647482344153133 C0271674 Asymmetric Diabetic Proximal Motor Neuropathy 1713 9 0.9647482344153133 C0271678 Diabetic Mononeuropathy 1713 9 0.9647482344153133 C0271680 Diabetic Polyneuropathies 1713 9 0.9647482344153133 C0271685 Diabetic Amyotrophy 1713 9 0.9647482344153133 C0271686 Diabetic Autonomic Neuropathy 1713 9 0.9647482344153133 C0393835 Diabetic Asymmetric Polyneuropathy 1713 9 0.9647482344153133 C0751074 Diabetic Neuralgia 1713 9 0.9647482344153133 C0021171 Bloch Sulzberger syndrome 1512 9 0.9873811110666031 C1845073 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) 1512 9 0.9882351159840738 C1845117 Immunodeficiency without anhidrotic ectodermal dysplasia 1512 9 0.9882351159840738 C1845919 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema 1512 9 0.9882351159840738 C1846006 Ectodermal dysplasia, hypohidrotic, with immune deficiency 1512 9 0.9079549042323177 C1846008 HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 1512 9 0.9882351159840738 C1970879 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) 1512 9 0.9882351159840738 C2930820 Incontinentia pigmenti, familial male-lethal type 1512 9 0.9882351159840738 C4025314 Atrophic, patchy alopecia 1512 9 0.9882351159840738 C0007852 Cervical Migraine Syndrome 1398 9 0.7501617077033723 C0018984 Hemicrania migraine 1398 9 0.7501617077033723 C0042331 Migraine Variant 1398 9 0.7160055476090497 C0149931 Migraine Disorders 1398 9 0.5559143549632166 C0270858 Abdominal Migraine 1398 9 0.7501617077033723 C0338489 Status Migrainosus 1398 9 0.7501617077033723 C0521664 Acute Confusional Migraine 1398 9 0.7501617077033723 C0700438 Sick Headaches 1398 9 0.7501617077033723 C0744641 Intermittent migraine headaches 1398 9 -0.32284017203017445 C0865474 Parkinsonism or Parkinson\'s disease NOS 1378 9 1.0 C0865475 Idiopathic Parkinsonism or Parkinson\'s disease 1378 9 1.0 C0865476 Primary Parkinsonism or Parkinson\'s disease 1378 9 1.0 C1399358 Hemiparkinsonism 1378 9 1.0 C1851957 Diffuse Lewy Body Disease with Gaze Palsy 1378 9 1.0 C1851958 Lewy Body Variant of Alzheimer Disease 1378 9 1.0 C1854182 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder) 1378 9 1.0 C1868595 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 1378 9 1.0 C1868596 Atypical Parkinson Disease 1378 9 1.0 C0018522 Hallermann\'s Syndrome 1206 9 0.9620203892948224 C1861366 SYNDACTYLY, TYPE III 1206 9 0.9863358600890064 C1863093 Alopecia congenita keratosis palmoplantaris 1206 9 0.9863358600890064 C2749477 Oculodentodigital Dysplasia, Autosomal Recessive 1206 9 0.9863358600890064 C2931244 Craniometaphyseal dysplasia, autosomal recessive type 1206 9 0.9181797186347005 C2931577 Basaran Yilmaz syndrome 1206 9 0.9863358600890064 C3151468 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 1206 9 0.9863358600890064 C3275750 ATRIOVENTRICULAR SEPTAL DEFECT 3 1206 9 0.9863358600890064 C4479619 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 1206 9 0.9863358600890064 C1306122 Oguchi disease 1122 9 0.3824593538729675 C1848172 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 1122 9 0.42919265933719747 C1850362 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 1122 9 0.7481912787836372 C1864877 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 1122 9 0.8242599745008896 C3495587 Night Blindness, Congenital Stationary, Type 1A 1122 9 0.755380015690686 C3501847 Night blindness, congenital stationary, type 1 1122 9 0.8170647027708303 C3551052 Night blindness, stationary 1122 9 0.7006168224170927 C3711543 X-Linked Csnb 1122 9 0.8151921667611092 C4041558 Cone-rod synaptic disorder, congenital nonprogressive 1122 9 0.7401219792475716 C0022972 Lambert-Eaton Myasthenic Syndrome 1078 9 0.9711044189592019 C0154674 Symptomatic torsion dystonia 1078 9 0.9895425567163028 C0154675 Fragments of torsion dystonia 1078 9 0.9895425567163028 C0393601 Idiopathic non-familial dystonia 1078 9 0.9895425567163028 C0477373 Other forms of migraine 1078 9 0.9895425567163028 C1720416 Episodic ataxia type 2 (disorder) 1078 9 0.989164625824895 C1832884 Hemiplegic migraine, familial type 1 1078 9 0.940451864505543 C1832903 MIGRAINE, SPORADIC HEMIPLEGIC 1078 9 0.9737107402936381 C4310716 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 1078 9 0.9895425567163028 C0268594 Glutaric aciduria 1068 9 0.3952708643162493 C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 1068 9 0.9126783317194248 C0546389 Hepatic periportal necrosis 1068 9 0.9271356085439709 C1856401 Glutaric Aciduria IIA 1068 9 0.927135608543971 C1856403 Glutaric Aciduria IIB 1068 9 0.927135608543971 C1856405 Glutaric Aciduria IIC 1068 9 0.9272239327967644 C3278154 GLUTARIC ACIDEMIA IIA 1068 9 0.9134846171054567 C3278155 GLUTARIC ACIDEMIA IIB 1068 9 0.9105785627032866 C3278156 GLUTARIC ACIDEMIA IIC 1068 9 0.9154013645596661 C1704380 Distal Renal Tubular Acidosis 1053 9 0.7768200081374254 C1861453 Pseudohyperkalemia Cardiff 1053 9 0.6837302474041852 C1862322 Ovalocytosis, Malaysian-Melanesian-Filipino Type 1053 9 0.9317019562839636 C1862323 Southeast Asian ovalocytosis 1053 9 0.9297508291212638 C1862324 Elliptocytosis 4 1053 9 0.9317019562839636 C1969038 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 1053 9 0.9317019562839636 C1969039 Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology 1053 9 0.9317019562839636 C2675212 Spherocytosis, Type 4 1053 9 0.9317019562839636 C4022665 Isothenuria 1053 9 0.9317019562839636 C0020758 Congenital ichthyosis 995 9 0.6108877260519419 C0079154 Congenital Nonbullous Ichthyosiform Erythroderma 995 9 0.5189557281855458 C0079583 Ichthyosiform Erythroderma, Congenital 995 9 0.3951190708262412 C0239849 Harlequin Fetus 995 9 0.533486565175772 C0598226 Harlequin type ichthyosis 995 9 0.2038592026460194 C1855789 Self-Healing Collodion Baby 995 9 0.12663992095249743 C3536797 Ichthyosis Congenita II 995 9 0.6042233084815888 C3543867 Collodion Fetus 995 9 0.6035662432978885 C4511230 Bathing suit ichthyosis 995 9 0.4289803981348961 C0080032 Pleural Effusion, Malignant 740 9 0.5393299433927761 C0742468 Central nervous system lesion 740 9 0.6383404306425577 C0850741 Smoker\'s lung 740 9 0.4987757851787712 C1167791 Skin toxicity 740 9 0.5207036422508302 C1512127 HER2 gene amplification 740 9 0.21983729850888975 C1559154 Rash and Dermatitis Adverse Event Associated with Chemoradiation 740 9 0.055944302781270626 C3266262 Multiple Chronic Conditions 740 9 0.2803455268777472 C3539781 Progressive cGVHD 740 9 0.2558970703111747 C4015130 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 740 9 0.6383404306425577 C0270970 Reducing-body myopathy 734 9 0.9800977569243934 C2678015 Myopathy, Reducing Body, X-Linked, Childhood-Onset 734 9 0.9800977569243934 C2678027 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 734 9 0.9800977569243934 C2678055 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 734 9 0.9800977569243934 C2678061 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 734 9 0.9798865074146669 C2749106 Emery-Dreifuss Muscular Dystrophy 6, X-Linked 734 9 0.9800977569243934 C2931268 Scapuloperoneal myopathy 734 9 0.6943409642551949 C4225159 REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 734 9 0.9800977569243934 C4225423 REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 734 9 0.9800977569243934 C0025239 Melorheostosis 679 9 0.9590810313320987 C0029455 Osteopoikilosis (disorder) 679 9 0.9598080857747804 C0265514 Dermatofibrosis lenticularis disseminata 679 9 0.9554246723112128 C1833699 Osteopoikilosis, Isolated 679 9 0.9590810313320987 C2931505 Mixed sclerosing bone dystrophy 679 9 0.9590810313320987 C3149399 DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED 679 9 0.9590810313320987 C3149631 MELORHEOSTOSIS, ISOLATED 679 9 0.9590810313320987 C3149695 Melorheostosis with Osteopoikilosis 679 9 0.9590810313320987 C4305140 12q14 microdeletion syndrome 679 9 0.7153201322878779 C0158447 Idiopathic osteoporosis 572 9 0.6786925250174957 C0432252 Osteoporosis with pseudoglioma 572 9 0.6786925250174957 C0432273 Worth disease 572 9 0.6786925250174957 C1843323 Van Buchem disease type 2 572 9 0.6786925250174957 C1843330 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 572 9 0.6786925250174957 C1849792 Achromatopsia 3 572 9 -0.6013901863439612 C1866176 EXUDATIVE VITREORETINOPATHY 4 (disorder) 572 9 0.6786925250174957 C1866180 Horizontal pendular nystagmus 572 9 0.4673117248178364 C4021951 Vertebral body sclerosis 572 9 0.6786925250174957 C0266491 Neuronal heterotopia 538 9 0.4903918513767565 C0406726 Orofaciodigital syndrome 3 538 9 0.23338045150104175 C1419610 RP23 gene 538 9 0.5574660662561307 C1510460 Orofaciodigital Syndrome I 538 9 0.14655967249456497 C1846175 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 538 9 0.5574660662561307 C1858695 Chudley-Mccullough syndrome 538 9 0.0718617858358444 C2749019 JOUBERT SYNDROME 10 (disorder) 538 9 0.5574660662561307 C2931426 Orofaciodigital syndrome type1 538 9 0.5574660662561307 C3554657 LISSENCEPHALY 5 538 9 -0.021094451145836367 C0265251 Oto-Palato-digital syndrome type 1 489 9 0.7474420190130919 C1846129 Terminal Osseous Dysplasia and Pigmentary Defects 489 9 0.8633932514975425 C1848213 Periventricular Heterotopia, X-Linked 489 9 0.7860784518169665 C1848214 Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia 489 9 0.8633932514975425 C1868720 Periventricular Nodular Heterotopia 489 9 0.4620614329198002 C2746068 Congenital idiopathic intestinal pseudoobstruction 489 9 0.8633932514975425 C2748918 Otopalatodigital Spectrum Disorder 489 9 0.8633932514975425 C2748919 Frontootopalatodigital Osteodysplasia 489 9 0.8633932514975425 C3806579 CONGENITAL SHORT BOWEL SYNDROME, X-LINKED 489 9 0.8633932514975425 C0010035 Hereditary corneal dystrophy 469 9 0.9420761249132962 C0014008 Empty Sella Syndrome 469 9 0.9320678887561975 C0018179 Granular Dystrophy, Corneal 469 9 0.6185577850794447 C0018245 Groenouw\'s Dystrophies 469 9 0.9420761249132962 C0038457 Stromal Dystrophies, Corneal 469 9 0.9420761249132962 C0271574 Empty Sella Syndrome, Primary 469 9 0.9420761249132962 C0751097 Empty Sella Syndrome, Secondary 469 9 0.9420761249132962 C1835677 Keratoconus 1 469 9 0.9149467475944513 C3280099 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME 469 9 0.9420761249132962 C0272005 Hemoglobin Bart\'s hydrops syndrome 216 9 0.9471710886523605 C0796003 Juberg-Marsidi syndrome 216 9 0.9615459918125817 C0796159 Mental retardation Smith Fineman Myers type 216 9 0.9615459918125817 C1845055 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 216 9 0.9591167723581177 C1845298 MENTAL RETARDATION, X-LINKED 52 216 9 0.1610886461493762 C2873754 Severe alpha thalassemia 216 9 0.9615459918125817 C2873755 Triple gene defect alpha thalassemia 216 9 0.9615459918125817 C3161173 Hemoglobin H Constant Spring 216 9 0.9615459918125817 C3161175 Hydrops fetalis due to alpha thalassemia 216 9 0.9615459918125817 C0002882 Anemia, Hemolytic, Congenital Nonspherocytic 166 9 0.3540717791548304 C0015702 Favism 166 9 0.9068857450061543 C0031306 Phagocyte Bactericidal Dysfunction 166 9 0.9068857450061543 C0272132 Drug-induced hemolytic anemia 166 9 0.9068857450061543 C0472790 Chronic non-spherocytic hemolytic anemia 166 9 0.9068857450061543 C0520572 Enzymopathy 166 9 0.9007307631074732 C2720289 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY 166 9 0.8872843038674663 C2939465 Deficiency of glucose-6-phosphate dehydrogenase 166 9 0.8874408504884824 C4021648 Fava bean-induced hemolytic anemia 166 9 0.9068857450061543 C0000880 Acanthamoeba Keratitis 93 9 0.9238516356314508 C0036685 Septicaemia due to gram-negative organism, unspecified 93 9 0.533549232007681 C0262380 Asymptomatic bacteriuria 93 9 0.7177161229130913 C0744471 Gram-negative bacteremia 93 9 0.9238516356314508 C1864267 Endotoxin Hyporesponsiveness 93 9 0.9238516356314508 C1969108 Macular Degeneration, Age-Related, 10 93 9 0.9238516356314508 C2350529 Pulmonary Aspergillosis 93 9 0.9238516356314508 C2350530 Bronchopulmonary Aspergillosis 93 9 0.9238516356314508 C4049883 Obstructive Ureterocele 93 9 0.9238516356314508 C0024140 Lupus Erythematosus, Subacute Cutaneous 55 9 0.7340179452623813 C0031903 Pigeon Breeder\'s Lung 55 9 0.9579441245933421 C0206178 Cytomegalovirus Retinitis 55 9 0.9579441245933421 C0276622 Acute viral hepatitis 55 9 0.9579441245933421 C0340354 Q fever endocarditis 55 9 0.9579441245933421 C0678201 Terminal Ileitis 55 9 0.9579441245933421 C2348101 Destructive Arthritis 55 9 0.9579441245933421 C3826604 Celiac disease in children 55 9 0.9579441245933421 C3890941 Acute Motor Axonal Neuropathy 55 9 0.9579441245933421 C0271355 Abducens Nerve Diseases 2 9 1.0 C1838492 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 2 9 1.0 C1847406 Digital Arthropathy-Brachydactyly, Familial 2 9 1.0 C1853710 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 2 9 1.0 C2079540 Charcot-Marie-Tooth disease, Type 2C 2 9 1.0 C3159322 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE 2 9 1.0 C3711162 Metatropic Dysplasia Type 1 2 9 1.0 C4024611 Nonprogressive muscular atrophy 2 9 1.0 C4025381 Osteoarthritis of the small joints of the hand 2 9 1.0 C0036161 Sandhoff Disease 2103 8 0.9871925860870976 C0751489 Adult Sandhoff Disease 2103 8 0.9981921566618742 C0751490 Infantile Sandhoff Disease 2103 8 0.9981921566618742 C0751491 Juvenile Sandhoff Disease 2103 8 0.9981921566618742 C1849320 Sandhoff Disease, Adult Type 2103 8 0.9981921566618742 C1849321 Sandhoff Disease, Juvenile Type 2103 8 0.9981921566618742 C1849322 Sandhoff Disease, Infantile Type 2103 8 0.9981921566618742 C2713499 Total Hexosaminidase Deficiency 2103 8 0.9981921566618742 C0154778 Myopia, Degenerative 2035 8 0.012251863619428949 C0206307 Canavan Disease 2035 8 0.8321947876439797 C0751663 Canavan Disease, Familial Form 2035 8 0.8625395369633555 C0751664 Canavan Disease, Neonatal 2035 8 0.8737170223550509 C0751665 Canavan Disease, Sporadic Form 2035 8 0.8737170223550509 C0751666 Canavan Disease, Infantile 2035 8 0.8737170223550509 C0751667 Canavan Disease, Juvenile 2035 8 0.8737170223550509 C3542499 Aminoacylase 2 Deficiency 2035 8 0.8737170223550509 C0017922 Glycogen Storage Disease Type III 1944 8 0.9357500900867354 C1968739 Glycogen Storage Disease IIIA 1944 8 0.9933621163568894 C1968740 Glycogen Storage Disease IIIB 1944 8 0.9933621163568894 C1968741 Glycogen Storage Disease IIIC 1944 8 0.9933621163568894 C1968742 Glycogen Storage Disease IIID 1944 8 0.9933621163568894 C2936915 Amylo-1,6-glucosidase deficiency 1944 8 0.9933621163568894 C3695006 GLYCOGEN STORAGE DISEASE, TYPE IIIb 1944 8 0.9933621163568894 C3695007 GLYCOGEN STORAGE DISEASE, TYPE IIIa 1944 8 0.9933621163568894 C0238281 Middle Cerebral Artery Syndrome 1861 8 0.9446927714047687 C0740376 Middle Cerebral Artery Thrombosis 1861 8 0.9446927714047687 C0740392 Infarction, Middle Cerebral Artery 1861 8 0.5927932194038797 C0751845 Middle Cerebral Artery Embolus 1861 8 0.9446927714047687 C0751846 Left Middle Cerebral Artery Infarction 1861 8 0.9446927714047687 C0751847 Embolic Infarction, Middle Cerebral Artery 1861 8 0.9446927714047687 C0751848 Thrombotic Infarction, Middle Cerebral Artery 1861 8 0.9446927714047687 C0751849 Right Middle Cerebral Artery Infarction 1861 8 0.9446927714047687 C0024591 Malignant hyperpyrexia due to anesthesia 1732 8 0.8286985703814619 C0751951 Central Core Myopathy (disorder) 1732 8 0.8255752863118219 C1840365 King Denborough syndrome 1732 8 0.9533484815040281 C1850674 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 1732 8 0.9426044949715977 C1861751 Minicore Myopathy, Moderate, with Hand Involvement 1732 8 0.9533484815040281 C1861752 Multicore Myopathy, Moderate, with Hand Involvement 1732 8 0.9533484815040281 C1861753 Multiminicore Disease, Moderate, with Hand Involvement 1732 8 0.9533484815040281 C2674259 NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) 1732 8 0.9533484815040281 C0037899 Sphingolipidoses 1697 8 0.7169491968775693 C0268262 Metachromatic Leukodystrophy due to Saposin B Deficiency 1697 8 0.7169491968775693 C1864651 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 1697 8 0.7169491968775693 C1867717 SAPOSIN D (disease) 1697 8 0.7169491968775693 C2673266 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY 1697 8 0.7169491968775693 C2673635 Combined Saposin Deficiency 1697 8 0.7169491968775693 C3280314 Combined Malonic and Methylmalonic Aciduria 1697 8 -0.23529041345439614 C4023499 Generalized clonic seizures 1697 8 0.6117026369525251 C0221061 Behr syndrome 1520 8 0.8982322948388008 C0338508 Optic Atrophy, Autosomal Dominant 1520 8 0.7811387384073779 C0730309 Inherited optic neuropathy 1520 8 0.8982322948388008 C1258666 Myxoid cyst 1520 8 0.13691407769625316 C1852267 OPTIC ATROPHY 1 AND DEAFNESS 1520 8 0.8982322948388008 C3276549 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 1520 8 0.8969385499601228 C4225163 MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) 1520 8 0.8982322948388008 C4275164 Autosomal dominant optic atrophy plus syndrome 1520 8 0.8982322948388008 C0751776 Atypical Inclusion-Body Disease 1484 8 0.7621691076824937 C0751777 Familial Progressive Myoclonic Epilepsy 1484 8 0.7621691076824937 C0751778 Myoclonic Epilepsies, Progressive 1484 8 0.7065093991195834 C0751779 Action Myoclonus-Renal Failure Syndrome 1484 8 0.6416655202717283 C0751780 Biotin-Responsive Encephalopathy 1484 8 0.7621691076824937 C0751781 Dentatorubral-Pallidoluysian Atrophy 1484 8 0.7049757231816715 C0751782 May-White Syndrome 1484 8 0.7621691076824937 C4021759 Generalized myoclonic seizures 1484 8 -0.12495320563348299 C0008373 Cholesteatoma 1283 8 -0.15545252739245355 C0265234 Branchio-Oto-Renal Syndrome 1283 8 0.32868895541348697 C0376524 Branchio-Oculo-Facial Syndrome 1283 8 -0.21518455895815086 C1865143 BRANCHIOOTIC SYNDROME 1 1283 8 0.002523954174933355 C1970479 Branchiootorenal Syndrome 2 1283 8 0.370317925827299 C3551443 ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 1283 8 0.12954276709962123 C3714941 OTOFACIOCERVICAL SYNDROME 1 1283 8 -0.35773093630492153 C4023411 Hemifacial hypoplasia 1283 8 0.13737215279501558 C1832230 Peroxisome Biogenesis Disorder, Complementation Group 4 1186 8 0.7408748471446291 C1832231 Peroxisome Biogenesis Disorder, Complementation Group 6 1186 8 0.7408748471446291 C1832232 Peroxisome Biogenesis Disorder, Complementation Group C 1186 8 0.7382108113859798 C1849094 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 1186 8 0.6326298558626209 C3553538 BROWN-VIALETTO-VAN LAERE SYNDROME 2 1186 8 -0.08228834986526815 C3553936 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) 1186 8 0.7408748471446291 C3553937 PEROXISOME BIOGENESIS DISORDER 4B 1186 8 0.7408748471446291 C4225267 HEIMLER SYNDROME 2 1186 8 0.7408748471446291 C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL 1133 8 0.35958686099358655 C1844020 HETEROTAXY, VISCERAL, 1, X-LINKED 1133 8 0.613647219668846 C1853444 Heterotaxy, Visceral, 3, Autosomal 1133 8 0.5515432780296606 C2931228 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 1133 8 0.1539267239679174 C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL 1133 8 0.224354478906329 C3151867 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 1133 8 0.6195813479742105 C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL 1133 8 0.47651770898072154 C4274029 Biliary atresia with splenic malformation syndrome 1133 8 -0.4702507365651105 C0037768 Spasmophilia 1012 8 0.7250818753428685 C0039621 Tetany 1012 8 -0.16127708372692812 C0270224 Tetany, Neonatal 1012 8 0.7250818753428685 C0917812 Tetanilla 1012 8 0.7250818753428685 C2673648 Hypomagnesemia 4, Renal 1012 8 0.01021116141334679 C3151295 HYPOMAGNESEMIA 6, RENAL 1012 8 0.7250818753428685 C4225333 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1012 8 0.7250818753428685 C4510731 Familial primary hypomagnesemia with normocalciuria and normocalcemia 1012 8 0.6372231128137914 C0002876 Congenital dyserythropoietic anemia 880 8 0.6077407407960728 C0014800 Erythroid hyperplasia 880 8 0.03757468942048783 C0271933 Congenital dyserythropoietic anemia, type I 880 8 0.6222003860944513 C0271934 Congenital dyserythropoietic anemia, type III 880 8 0.5779574393757182 C0678199 Anemia of inadequate production 880 8 -0.1460776513473016 C1306589 Congenital dyserythropoietic anemia, type II 880 8 0.5187429401892393 C4025183 Macrocytic dyserythropoietic anemia 880 8 0.34625443344394524 C4225179 COWDEN SYNDROME 7 880 8 0.05101840833974681 C0024814 Marinesco-Sjogren syndrome 871 8 0.8203184201313121 C0033132 Cerebellar Degenerations, Primary 871 8 0.9201621109153189 C0037952 Spinocerebellar Degeneration 871 8 0.9185757796259643 C0270749 Marie Cerebellar Ataxia 871 8 0.9201621109153189 C0270755 Corticostriatal-Spinal Degeneration 871 8 0.9201621109153189 C0393519 Cerebellar Ataxia, Early Onset 871 8 0.9083030318022156 C0393524 Cerebellar Ataxia, Late Onset 871 8 0.9201621109153189 C4024710 Cerebellar cortical atrophy 871 8 -0.02246949520390459 C1835178 MACULAR DYSTROPHY, ATYPICAL VITELLIFORM 794 8 0.9807450904749156 C1860406 VITREORETINOCHOROIDOPATHY (disorder) 794 8 0.99720921350546 C2674009 Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 794 8 0.99720921350546 C2675055 BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL (disorder) 794 8 0.99720921350546 C2678493 BESTROPHINOPATHY 794 8 0.99720921350546 C2750789 RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 794 8 0.99720921350546 C3888099 Autosomal dominant vitreoretinochoroidopathy 794 8 0.99720921350546 C3888198 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 794 8 0.99720921350546 C1320640 Peripheral degeneration of retina 789 8 0.7738615683297322 C1837029 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 789 8 0.2913636212590398 C1842475 Retinitis Pigmentosa 7 789 8 0.7079079580996891 C1868569 Patterned dystrophy of retinal pigment epithelium 789 8 0.6979186189155734 C2675552 Retinitis Pigmentosa 7, Digenic 789 8 0.7738615683297322 C2751290 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 789 8 0.7738615683297322 C4024776 Reticular retinal dystrophy 789 8 0.7738615683297322 C4509881 Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 789 8 0.7738615683297322 C0008043 Chiari-Frommel Syndrome 755 8 -0.004081915484912758 C0015951 Fetal Resorption 755 8 0.4048485648837485 C0020514 Hyperprolactinemia 755 8 0.2759085450125295 C0034040 Puerperal Disorders 755 8 0.6139125893059771 C0751230 Hypothalamic Dysfunction Syndromes 755 8 0.6139125893059771 C1449720 Adolescent Gynecomastia 755 8 0.6139125893059771 C1449721 Infant Gynecomastia 755 8 0.6139125893059771 C3665358 Galactorrhea 755 8 0.4780361967103779 C0085131 Gangliosidosis GM1 599 8 0.9678805452165683 C0086652 Mucopolysaccharidosis type IVB 599 8 0.7893357411891418 C0268271 Gangliosidosis, Generalized GM1, Type 1 (disorder) 599 8 0.9824472859306677 C0268272 Gangliosidosis, Generalized GM1, Type 2 599 8 0.9824472859306677 C0268273 Gangliosidosis, Generalized GM1, Type 3 599 8 0.9824472859306677 C1968746 Gangliosidosis, Generalized GM1, Late-Infantile Type 599 8 0.9824472859306677 C1968748 Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement 599 8 0.9824472859306677 C2718068 beta-Galactosidase Deficiency 599 8 0.9824472859306677 C0265344 Donohue Syndrome 477 8 0.9963272794794978 C0271689 Insulin Receptor, Defect in 477 8 0.9994747439888062 C0271690 Type 2 diabetes mellitus with acanthosis nigricans 477 8 0.9994747439888062 C0271695 Rabson-Mendenhall Syndrome 477 8 0.9994747439888062 C0342278 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 477 8 0.9994747439888062 C0342336 Insulin resistance - type A 477 8 0.9994747439888062 C1864952 Hyperinsulinemic Hypoglycemia, Familial, 5 477 8 0.9994747439888062 C1960636 Dysglycemia 477 8 0.9994747439888062 C0017412 Genital Diseases, Male 439 8 0.9202045795626449 C0268301 Reifenstein Syndrome 439 8 0.9139354555773221 C0752353 Atrophy, Muscular, Spinobulbar 439 8 0.8830366517407603 C0860159 Partial androgen resistance 439 8 0.9202045795626449 C1839259 Bulbo-Spinal Atrophy, X-Linked 439 8 0.6671661436653933 C2713546 Androgen Receptor Deficiency 439 8 0.9202045795626449 C2931395 Bulbospinal neuronopathy, X-linked recessive 439 8 0.9202045795626449 C2931847 Type I familial incomplete male pseudohermaphroditism 439 8 0.9202045795626449 C0011848 Diabetes Insipidus 409 8 0.6084695505834085 C0013390 Dysmenorrhea 409 8 0.08185048481770882 C0021141 Inappropriate ADH Syndrome 409 8 0.7895683213028573 C0037019 Shy-Drager Syndrome 409 8 0.49090034929725124 C0342394 Familial central diabetes insipidus 409 8 0.7895683213028573 C0687720 Central Diabetes Insipidus 409 8 0.7475880940383514 C0857122 Hyponatraemic 409 8 0.7895683213028573 C1136135 Water Stress 409 8 0.7895683213028573 C0206081 Hyperandrogenism 378 8 0.49513035844595227 C0340542 Sporadic primary pulmonary hypertension 378 8 0.9125811377145642 C0340544 Pulmonary arterial hypertension induced by drug 378 8 0.9125811377145642 C2939447 Right ventricular failure 378 8 0.9125811377145642 C3697119 Pulmonary arterial hypertension associated with congenital heart disease 378 8 0.9125811377145642 C4020753 Intimal fibrosis 378 8 0.9125811377145642 C4023403 Arterial intimal fibrosis 378 8 0.9125811377145642 C4025217 Pulmonary aterial intimal fibrosis 378 8 0.9125811377145642 C0016436 Folliculitis 376 8 0.5053871022777267 C1275091 Ichthyosis follicularis with alopecia and photophobia (IFAP) 376 8 0.8949262044208534 C1839988 Ichthyosis follicularis atrichia photophobia syndrome 376 8 0.8949262044208534 C2748527 KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 376 8 0.8949262044208534 C2936846 Scarring alopecia 376 8 0.8949262044208534 C3502469 Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 376 8 0.8949262044208534 C3806745 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED 376 8 0.8949262044208534 C3887525 Keratosis Follicularis Spinulosa Decalvans, X-Linked 376 8 0.7880165727600934 C0079297 Epidermolysis Bullosa Progressiva 354 8 0.913537232376121 C0079301 Junctional Epidermolysis Bullosa 354 8 0.9045256557658822 C0079683 Herlitz Disease 354 8 0.7360886497994255 C0268374 Adult junctional epidermolysis bullosa (disorder) 354 8 0.8869994016805661 C2608084 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 354 8 0.8603971037152934 C2673609 Epidermolysis bullosa inversa dystrophica 354 8 0.8709839285228019 C2673610 JEB-I 354 8 0.843119422344277 C4021730 Junctional split 354 8 0.5710134342670009 C0006705 Calcium Metabolism Disorders 330 8 0.8344257762932521 C0342342 Idiopathic Hypoparathyroidism 330 8 0.8829785322146788 C0342637 Hypocalciuric hypercalcemia, familial, type 1 330 8 0.8194862211047983 C0345406 Neonatal hyperparathyroidism 330 8 0.875290707550721 C1809471 Familial benign hypercalcemia 330 8 0.2564165647373486 C1832612 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 330 8 0.875290707550721 C1832615 HYPERPARATHYROIDISM, NEONATAL SEVERE 330 8 0.8935081054677261 C1840348 Hypocalciuric Hypercalcemia, Acquired 330 8 0.875290707550721 C0014550 Myoclonic Epilepsy 323 8 0.929047905660524 C0338478 Idiopathic Myoclonic Epilepsy 323 8 0.948420157376199 C0338479 Symptomatic Myoclonic Epilepsy 323 8 0.948420157376199 C0393695 Early Childhood Epilepsy, Myoclonic 323 8 0.948420157376199 C0393702 Myoclonic Astatic Epilepsy 323 8 0.7046903013229593 C0393703 Myoclonic Absence Epilepsy 323 8 0.948420157376199 C0438414 Myoclonic Encephalopathy 323 8 0.948420157376199 C0751120 Benign Infantile Myoclonic Epilepsy 323 8 0.948420157376199 C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR 290 8 0.9797735514561366 C1846386 Focal Cortical Dysplasia of Taylor, Type IIa 290 8 0.996806704898052 C1846388 CORTICAL DYSPLASIA OF TAYLOR, DYSPLASIA ONLY 290 8 0.996806704898052 C1846389 Focal Cortical Dysplasia of Taylor, Type IIb 290 8 0.9968067048980521 C4478700 FOCAL CORTICAL DYSPLASIA, TYPE IIA 290 8 0.996806704898052 C4478701 FOCAL CORTICAL DYSPLASIA, TYPE IIB 290 8 0.996806704898052 C4479708 FCD IIA 290 8 0.996806704898052 C4479709 FCD IIB 290 8 0.996806704898052 C0032326 Pneumothorax 280 8 0.8223784713035205 C0149781 Spontaneous pneumothorax 280 8 0.9541762804677217 C0264558 Tension Pneumothorax 280 8 0.9728018405562604 C0346010 Multiple fibrofolliculomas 280 8 0.9695390905825654 C0546483 Lung cyst 280 8 0.9728018405562604 C1860850 Familial multiple trichodiscomas 280 8 0.9728018405562604 C1868193 PNEUMOTHORAX, PRIMARY SPONTANEOUS 280 8 0.9720243119326936 C4275252 Familial spontaneous pneumothorax 280 8 0.9728018405562604 C0004698 Balkan Nephropathy 233 8 0.9508379990282759 C0014818 Erythroplasia 233 8 0.9921988893938744 C0043037 Common wart 233 8 0.9921988893938744 C0085694 Chronic cholecystitis 233 8 0.9921988893938744 C0747742 polyp benign 233 8 0.9921988893938744 C1835398 LI-FRAUMENI SYNDROME 1 233 8 0.9921988893938744 C2675080 Li-Fraumeni-Like Syndrome 233 8 0.9887935880224613 C4049993 Aristolochic Acid Nephropathy 233 8 0.9921988893938744 C0153252 Systemic candidiasis 192 8 0.505143674358917 C0269084 Vulvar Vestibulitis 192 8 0.8612264497413841 C0746883 Febrile Neutropenia 192 8 0.35346716001502215 C1320214 Invasive Streptococcus pneumoniae disease 192 8 0.6468126028250947 C1609535 Invasive Candidiasis 192 8 0.8612264497413841 C3280586 Mannose-Binding Protein Deficiency 192 8 0.860582122717315 C3825879 Otitis media in children 192 8 0.8612264497413841 C3826128 Infection in children 192 8 0.8612264497413841 C0003081 Anisometropia 173 8 0.8200369611986975 C0030517 Parathyroid Diseases 173 8 0.7276449660258347 C0040046 Thrombophlebitis 173 8 0.0255402408450929 C0265326 Bannayan-Riley-Ruvalcaba Syndrome 173 8 0.7673040548656176 C1834711 CEREBELLOPARENCHYMAL DISORDER VI 173 8 0.8200369611986975 C1834712 Cerebellar Granule Cell Hypertrophy and Megalencephaly 173 8 0.8200369611986975 C1854416 MACROCEPHALY/AUTISM SYNDROME 173 8 0.7562546663929541 C1866398 Proteus-Like Syndrome (disorder) 173 8 0.7869597350261828 C0030343 Panuveitis 69 8 0.9384923708493668 C0036118 Salmonella Infections, Animal 69 8 0.9384923708493668 C0729552 Genital infection 69 8 0.9384923708493668 C1328252 Mucocutaneous leishmaniasis 69 8 0.9328875046648023 C1609538 Latent Tuberculosis 69 8 0.55470998528803 C2350875 Constrictive Bronchiolitis 69 8 0.8134100440183278 C2350876 Bronchiolitis, Exudative 69 8 0.9384923708493668 C2350988 Bronchiolitis, Proliferative 69 8 0.9384923708493668 C0206064 Microvascular Angina 20 8 0.9317240164920229 C0242129 Thrombotic stroke 20 8 0.9591944520707146 C0268611 Arakawa syndrome 2 20 8 0.9591944520707146 C0852077 Blood Coagulation Disorders, Inherited 20 8 0.9381778310931519 C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 20 8 0.9591944520707146 C1856059 Mthfr Deficiency, Thermolabile Type 20 8 0.9591944520707146 C1856061 Methylenetetrahydrofolate reductase deficiency 20 8 0.9591944520707146 C3495426 Homocysteinemia 20 8 0.8035962259935231 C0038220 Status Epilepticus 1931 7 0.7696057048983966 C0270823 Petit mal status 1931 7 0.9646604602739728 C0311335 Grand Mal Status Epilepticus 1931 7 0.9646604602739728 C0393734 Complex Partial Status Epilepticus 1931 7 0.9646604602739728 C0751522 Status Epilepticus, Subclinical 1931 7 0.9646604602739728 C0751523 Non-Convulsive Status Epilepticus 1931 7 0.9646604602739728 C0751524 Simple Partial Status Epilepticus 1931 7 0.9646604602739728 C0016719 Friedreich Ataxia 1906 7 0.7699184391328286 C0393520 Harding ataxia 1906 7 0.7729275698293496 C0742191 Cervical spinal cord atrophy 1906 7 0.7729275698293496 C1847416 FRIEDREICH ATAXIA WITH RETAINED REFLEXES 1906 7 0.7729275698293496 C1856689 FRIEDREICH ATAXIA 1 1906 7 0.7443573392270402 C3273225 Hereditary Neurodegenerative Disorder 1906 7 0.595812236416077 C4479491 LOPES-MACIEL-RODAN SYNDROME 1906 7 -0.2961412440383463 C0472381 Posterior Circulation Transient Ischemic Attack 1831 7 0.9824040821529827 C0751019 Carotid Circulation Transient Ischemic Attack 1831 7 0.9824040821529827 C0751020 Transient Ischemic Attack, Vertebrobasilar Circulation 1831 7 0.9824040821529827 C0751021 Crescendo Transient Ischemic Attacks 1831 7 0.9824040821529827 C0751022 Brain Stem Ischemia, Transient 1831 7 0.9824040821529827 C0917805 Transient Cerebral Ischemia 1831 7 0.8978353523186026 C1527335 Transient Ischemic Attack, Anterior Circulation 1831 7 0.9824040821529827 C0348447 Other specified diabetes mellitus 1721 7 1.0 C0432217 Wolcott-Rallison syndrome 1721 7 1.0 C0473524 Postpancreatectomy hypoinsulinemia 1721 7 1.0 C2874124 Diabetes mellitus due to genetic defect in insulin action 1721 7 1.0 C2874125 Diabetes mellitus due to genetic defect in beta cell function 1721 7 1.0 C4290094 postprocedural diabetes mellitus 1721 7 1.0 C4290095 secondary diabetes mellitus NEC 1721 7 1.0 C0022340 Late-Infantile Neuronal Ceroid Lipfuscinosis 1691 7 0.009745008850924095 C0022797 Adult Neuronal Ceroid Lipofuscinosis 1691 7 0.381466495836814 C0027877 Neuronal Ceroid-Lipofuscinoses 1691 7 0.3818987805576763 C0268281 Infantile neuronal ceroid lipofuscinosis 1691 7 0.5002050858480649 C0751383 Juvenile Neuronal Ceroid Lipofuscinosis 1691 7 0.4003441029909729 C1850451 CEROID LIPOFUSCINOSIS, NEURONAL, 1 1691 7 0.3039023480831197 C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 1691 7 0.03203011754391515 C1504405 Pyramidal tract dysfunction 1639 7 0.6368796863267676 C1857663 Yunis Varon syndrome 1639 7 0.6683395508275005 C1970011 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 1639 7 0.7014987938469461 C2675191 Polymicrogyria, Bilateral Occipital 1639 7 0.7014987938469461 C2675491 AMYOTROPHIC LATERAL SCLEROSIS 11 1639 7 0.7014987938469461 C2677535 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 1639 7 0.10582384421488412 C4013648 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL 1639 7 0.7014987938469461 C0270969 Zebra body myopathy 1568 7 0.9874271886404451 C1834339 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 1568 7 0.9259148822148114 C2750536 Nemaline Myopathy 3, With Intranuclear Rods 1568 7 0.9874271886404451 C2750537 Myopathy, Actin, Congenital, With Cores 1568 7 0.9874271886404451 C3711377 Intranuclear Rod Myopathy 1568 7 0.9874271886404451 C3711389 Actin-Accumulation Myopathy 1568 7 0.9874271886404451 C4225181 MYOPATHY, SCAPULOHUMEROPERONEAL 1568 7 0.9874271886404451 C0001621 Adrenal Gland Diseases 1517 7 0.8524907839149616 C0042131 Uterine Diseases 1517 7 0.9744696903112824 C0085622 Monoplegia 1517 7 0.9744696903112824 C0154694 Hemiplegia, Spastic 1517 7 0.9039969145238312 C0278110 Hemiplegia, Crossed 1517 7 0.9726495526589284 C0392550 Hemiplegia, Infantile 1517 7 0.9744696903112824 C1720816 Endometrial Diseases 1517 7 0.9744696903112824 C0026706 Mucopolysaccharidosis III 1514 7 0.7268966040354875 C0086647 Mucopolysaccharidosis Type IIIA 1514 7 0.6307582878123091 C0086648 MPS III B 1514 7 0.7005171555200794 C0086649 MPS III C 1514 7 0.6829832180569418 C0086650 MPS III D 1514 7 0.6024101198885113 C4225287 RETINITIS PIGMENTOSA 73 1514 7 0.3445245033785194 C4225306 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 1514 7 0.2715014461574377 C0220987 Hereditary orotic aciduria 1374 7 0.7065315829061334 C0268130 Hereditary orotic aciduria, type 1 1374 7 0.7056793965104504 C0949116 Congenital hypoplastic anemia 1374 7 0.518609008406321 C3278622 OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA 1374 7 0.7065315829061334 C4021731 Pyrimidine-responsive megaloblastic anemia 1374 7 0.7065315829061334 C4025287 Folate-unresponsive megaloblastic anemia 1374 7 0.7065315829061334 C4225320 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 1374 7 -0.18329244150023455 C1833369 OROFACIAL CLEFT 3 1280 7 0.9967601029660361 C1835894 Orofacial Cleft 9 1280 7 0.9967601029660361 C1842143 Orofacial Cleft 4 1280 7 0.9967601029660361 C1861537 OROFACIAL CLEFT 1 1280 7 0.9808380176217126 C1864323 OROFACIAL CLEFT 2 1280 7 0.9967601029660361 C2748505 Orofacial Cleft 12 1280 7 0.9967601029660361 C3151222 OROFACIAL CLEFT 13 1280 7 0.9967601029660361 C0454641 Expressive language delay 1249 7 0.03949497349468351 C0700201 Dyssomnias 1249 7 0.8444506671680055 C0752289 Environmental Sleep Disorder 1249 7 0.8444506671680055 C0752293 Sleep Disorders, Extrinsic 1249 7 0.8444506671680055 C0795864 Smith-Magenis syndrome 1249 7 0.6899805799717302 C2931246 Potocki-Lupski syndrome 1249 7 0.7439276250903712 C4225255 YUAN-HAREL-LUPSKI SYNDROME 1249 7 0.8444506671680055 C0087012 Ataxia, Spinocerebellar 1082 7 0.9257657649055158 C0752120 Spinocerebellar Ataxia Type 1 1082 7 0.9101495548915252 C0752121 Spinocerebellar Ataxia Type 2 1082 7 0.9074758780774383 C0752122 Spinocerebellar Ataxia Type 4 1082 7 0.9208494074120892 C0752123 Spinocerebellar Ataxia Type 5 1082 7 0.8625213061267359 C0752124 Spinocerebellar Ataxia Type 6 (disorder) 1082 7 0.8177028186575886 C0752125 Spinocerebellar Ataxia Type 7 1082 7 0.9030657268179937 C0009324 Ulcerative Colitis 1029 7 0.18778865773126063 C0010346 Crohn Disease 1029 7 0.631562428732385 C0021390 Inflammatory Bowel Diseases 1029 7 0.14191870206138832 C0156147 Crohn\'s disease of large bowel 1029 7 0.6170203836221173 C0267380 Crohn\'s disease of the ileum 1029 7 0.6547814613509333 C0678202 Regional enteritis 1029 7 0.6591136699546444 C0949272 IIeocolitis 1029 7 0.6545885072337488 C0751576 Partial Paralysis (Paresis) Vocal Cords 969 7 0.05191090570646802 C1842197 Charcot-Marie-Tooth Disease, Recessive Intermediate A 969 7 0.8612066799351721 C1842983 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K 969 7 0.8152882047589901 C1842984 Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2k 969 7 0.8612066799351721 C1843173 Charcot-Marie-Tooth disease, Type 2H 969 7 0.8612066799351721 C1843183 Charcot-Marie-Tooth disease, Type 4A, axonal form 969 7 0.6673815360364577 C1859198 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 969 7 0.8612066799351721 C0393556 Complicated hereditary spastic paraplegia 963 7 0.72249728201469 C0521670 Cranial nerve compression 963 7 -0.2237250598717857 C1858479 Spastic paraplegia 11, autosomal recessive 963 7 0.72249728201469 C1865864 AMYOTROPHIC LATERAL SCLEROSIS 5 963 7 0.72249728201469 C2931821 Nakamura Osame syndrome 963 7 0.72249728201469 C4021582 Distal peripheral sensory neuropathy 963 7 0.6231008219355161 C4225253 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X 963 7 0.72249728201469 C0028064 Niemann-Pick Diseases 956 7 0.8837315605694889 C0268242 Niemann-Pick Disease, Type A 956 7 0.9848973435834008 C0268243 Niemann-Pick Disease, Type B 956 7 0.9848973435834008 C0268248 Niemann-Pick Disease, Type E 956 7 0.9848973435834008 C1843418 Niemann-Pick Disease, Type F 956 7 0.9848973435834008 C2675644 Niemann-Pick Disease, Intermediate, With Visceral Involvement And Rapid Progression 956 7 0.9848973435834008 C2675646 NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder) 956 7 0.9848973435834008 C0027849 Neuroleptic Malignant Syndrome 947 7 -0.33038835506470754 C0221271 Elastosis perforans serpiginosa 947 7 0.17291487511306886 C0238421 Selenium deficiency 947 7 -0.3067286723565978 C0338468 Tic Disorders, Vocal 947 7 0.47296929892276535 C0751553 Childhood Tic Disorders 947 7 0.47296929892276535 C0751554 Motor Tic Disorders 947 7 0.47296929892276535 C2751067 Parkinsonism-Dystonia, Infantile 947 7 0.1389614173800297 C0023804 Lipomatosis, Multiple Symmetrical 869 7 0.8638912733930747 C0393807 Hereditary motor and sensory neuropathy with optic atrophy (disorder) 869 7 0.8015634364536603 C1836485 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 869 7 0.865759783759407 C2079538 Charcot-Marie-Tooth disease, Type 2A 869 7 0.8565732247499304 C2931642 Benign symmetrical lipomatosis 869 7 0.8539929001192434 C4025619 Peripheral axonal atrophy 869 7 0.03204881303701446 C4310725 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 869 7 0.865759783759407 C0157738 Chronic skin ulcer 799 7 0.36881212157454607 C0206141 Idiopathic Hypereosinophilic Syndrome 799 7 0.8321346232469082 C0206143 Loeffler\'s Endocarditis 799 7 0.8309972982949037 C0263662 Disseminated eosinophilic collagen disease 799 7 0.8417435364687668 C0745091 Hypereosinophilia 799 7 0.5766791817757657 C1540912 Hypereosinophilic syndrome 799 7 0.7655568201131454 C3853548 Pdgfra-Associated Chronic Eosinophilic Leukemia 799 7 0.8084766181292814 C0030590 Paroxysmal supraventricular tachycardia 768 7 0.9428429931621836 C0032915 Preexcitation Syndrome 768 7 0.9455601204047469 C0043202 Wolff-Parkinson-White Syndrome 768 7 0.649749397811892 C0281788 Biventricular hypertrophy 768 7 0.9428429931621836 C0559106 Ventricular preexcitation 768 7 0.9219172999954353 C1833236 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 768 7 0.9428429931621836 C1849813 Glycogen Storage Disease of Heart, Lethal Congenital 768 7 0.9428429931621836 C0023138 Laurence-Moon Syndrome 751 7 0.5530329697908914 C0037050 Sick Building Syndrome 751 7 0.5530329697908914 C1389102 Atrophy of the spinal cord 751 7 0.537869109296383 C1848745 Oliver-McFarlane syndrome 751 7 0.5530329697908914 C1850395 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive 751 7 -0.05471722197819677 C1859093 Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 751 7 0.5530329697908914 C2677586 Spastic Paraplegia 39, Autosomal Recessive 751 7 0.5530329697908914 C0019191 Infectious Canine Hepatitis 738 7 1.0 C1843512 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 738 7 1.0 C2673195 Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps 738 7 1.0 C2675650 Brain Small Vessel Disease With Axenfeld-Rieger Anomaly 738 7 1.0 C2930808 Familial vascular leukoencephalopathy 738 7 1.0 C4013035 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES 738 7 1.0 C4024975 Posterior leukoencephalopathy 738 7 1.0 C0221054 Welander Distal Myopathy 731 7 0.3812849537635705 C0264789 Familial cardiomyopathy 731 7 0.8191388975682928 C1834481 CARDIOMYOPATHY, DILATED, 1S 731 7 0.7107729389438642 C1842160 MYOPATHY, MYOSIN STORAGE (disorder) 731 7 0.8191388975682928 C1850709 Myopathy, Hyaline Body, Autosomal Recessive 731 7 0.8191388975682928 C3150690 LEFT VENTRICULAR NONCOMPACTION 5 731 7 0.8191388975682928 C4023127 Toe extensor amyotrophy 731 7 0.8191388975682928 C0019624 Histiocytosis, Non-Langerhans-Cell 563 7 0.9997076812797654 C0878675 Erdheim-Chester Disease 563 7 0.9982469751495253 C1275336 Hashimoto-Pritzker syndrome 563 7 0.9997076812797654 C1402291 Pigmented lesions 563 7 0.9997076812797654 C1562010 Langerhans cell histiocytosis of lung 563 7 0.9997076812797654 C3150970 NOONAN SYNDROME 7 563 7 0.9997076812797654 C3150971 LEOPARD SYNDROME 3 563 7 0.9997076812797654 C0221060 Mobius Syndrome 537 7 0.34116755428353224 C0265233 Cryptophthalmos syndrome 537 7 0.6914449727133183 C0265240 Goldenhar Syndrome 537 7 0.43865102985479665 C0281890 Laryngeal web 537 7 0.5513991455619012 C0687154 Acrocephalopolysyndactyly 537 7 0.4771518346178361 C4025208 Severe T-cell immunodeficiency 537 7 0.4673363837780735 C4540036 FRASER SYNDROME 2 537 7 0.3853593638309096 C0006848 Mucocutaneous candidiasis 524 7 -0.07592702526490723 C0032064 Plague 524 7 0.6218490834498867 C0040561 Ocular Toxoplasmosis 524 7 0.11717401218752989 C0343052 Guttate psoriasis 524 7 -0.0854688567919862 C0406317 Chronic small plaque psoriasis 524 7 0.5041323683753064 C1262117 Fungal keratitis 524 7 0.6218490834498867 C1609432 manifestations of immunopathology 524 7 0.6218490834498867 C0002438 Amebiasis 475 7 0.7036637071355158 C0013370 Amebic colitis 475 7 0.7036637071355158 C0032002 Pituitary Diseases 475 7 0.35163049302337607 C0036992 Short Bowel Syndrome 475 7 -0.07212232736894851 C0751437 Adenohypophyseal Diseases 475 7 0.7036637071355158 C0751438 Posterior pituitary disease 475 7 0.7036637071355158 C3554225 LEPTIN RECEPTOR DEFICIENCY 475 7 0.7126397460079514 C0001916 Albinism 394 7 0.08659321546951285 C0268494 Oculocutaneous albinism type 1 394 7 0.19339936899669954 C0268495 Oculocutaneous albinism type 2 394 7 0.39456716132745495 C1847024 ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 394 7 0.2327815893769088 C1847132 ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE 394 7 0.2883570514742417 C1847836 Oculocutaneous Albinism, Type IV 394 7 0.3774657501663933 C3888401 ALBINISM, OCULOCUTANEOUS, TYPE V 394 7 0.6377678052519968 C0014548 Epilepsy, Generalized 326 7 0.6191113348262938 C0017332 Generalized Nonconvulsive Seizure Disorder 326 7 0.9484384670829212 C0086236 Epilepsy, Atonic 326 7 0.9484384670829212 C0086241 Epilepsy, Tonic 326 7 0.9484384670829212 C0270854 Symptomatic Generalized Epilepsy 326 7 0.9479388859098604 C0311334 Generalized convulsive epilepsy 326 7 0.9484384670829212 C0347869 Epilepsy, Akinetic 326 7 0.9484384670829212 C0348617 Other cardiomyopathies 240 7 0.06765223003863212 C1843292 Skin Fragility-Woolly Hair Syndrome 240 7 0.8644666438091182 C1843896 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 240 7 0.8644666438091182 C1852127 KERATOSIS PALMOPLANTARIS STRIATA II 240 7 0.8644666438091182 C1854063 Cardiomyopathy dilated with Woolly hair and keratoderma 240 7 0.8644666438091182 C1864826 Epidermolysis bullosa, lethal acantholytic 240 7 0.798774365503021 C4014393 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS 240 7 0.8644666438091182 C0085084 Motor Neuron Disease 181 7 0.3621454154929846 C0154681 Anterior Horn Cell Disease 181 7 0.8434165605709408 C0154682 Lateral Sclerosis 181 7 0.7355465095145428 C0270763 Familial Motor Neuron Disease 181 7 0.8621489647310797 C0270764 Motor Neuron Disease, Lower 181 7 0.8626323328967057 C0521659 Motor Neuron Disease, Upper 181 7 0.8621489647310797 C0543858 Motor Neuron Disease, Secondary 181 7 0.8621489647310797 C0033999 Pterygium 178 7 0.624708766534821 C0042749 Viremia 178 7 0.7067899325459075 C0155305 Optic Neuropathy, Ischemic 178 7 0.6340356780722164 C0206608 Flavivirus Infections 178 7 0.8433191715886285 C0524911 Hepatitis D, Chronic 178 7 0.8433191715886285 C0751711 Anterior Ischemic Optic Neuropathy 178 7 0.8433191715886285 C0751712 Posterior Ischemic Optic Neuropathy 178 7 0.8433191715886285 C0398641 Epstein syndrome (disorder) 137 7 0.9995844678655483 C0403445 Fechtner syndrome (disorder) 137 7 0.9995844678655483 C1834478 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS 137 7 0.9995844678655483 C1854520 SEBASTIAN SYNDROME 137 7 0.9975105587793996 C1861512 Cochleosaccular degeneration of the inner ear and progressive cataracts 137 7 0.9995844678655483 C1863659 DEAFNESS, AUTOSOMAL DOMINANT 17 137 7 0.9995844678655483 C2931716 Deafness, autosomal dominant nonsyndromic sensorineural 17 137 7 0.9995844678655483 C0015773 Felty Syndrome 104 7 0.8053295654220726 C0023788 Whipple Disease 104 7 0.8822638238711636 C0032533 Polymyalgia Rheumatica 104 7 0.41928162267228003 C0040115 Thymus Hyperplasia 104 7 0.8822638238711639 C0340164 Lofgrens syndrome 104 7 0.5970996544082956 C0406217 Actinic prurigo 104 7 0.8822638238711639 C1304469 Localized vitiligo 104 7 0.8822638238711639 C0041105 Trismus 46 7 0.5031468258950399 C0268379 Pseudocholinesterase deficiency 46 7 0.8807519467495823 C0520758 Prolonged neuromuscular block 46 7 0.8807519467495823 C1283400 Butyrylcholinesterase deficiency 46 7 0.8648589923432382 C1867467 Acholinesterasemia 46 7 0.8807519467495823 C1867469 Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type 46 7 0.8807519467495823 C1867470 Hypocholinesterasemia, Fluoride-Resistant, Japanese Type 46 7 0.8807519467495823 C0011989 Camurati-Engelmann Syndrome 8 7 0.850009803302599 C0030848 Peyronie Disease 8 7 0.6683942855799175 C0235989 Renal interstitial fibrosis 8 7 0.8435672662936633 C0521607 Peritoneal Fibrosis 8 7 0.9244295625394027 C0878576 Posterior Leukoencephalopathy Syndrome 8 7 0.9264770333850133 C2717860 Encapsulating Peritoneal Sclerosis 8 7 0.9264770333850133 C3160858 Posterior reversible encephalopathy syndrome 8 7 0.9264770333850133 C0270765 Myelopathic Muscular Atrophy 3 7 0.89837165731556 C0393541 Distal Spinal Muscular Atrophy 3 7 0.7938015520840968 C0393546 Oculopharyngeal Spinal Muscular Atrophy 3 7 0.89837165731556 C0751334 Progressive Proximal Myelopathic Muscular Atrophy 3 7 0.89837165731556 C0751335 Scapuloperoneal Form of Spinal Muscular Atrophy 3 7 0.23472395381758301 C0917981 Progressive Muscular Atrophy 3 7 0.8391124368502302 C3661519 Hereditary Motor Neuronopathy 3 7 0.89837165731556 C0032371 Poliomyelitis 2192 6 1.0 C0555971 Oral infection 2192 6 1.0 C0751445 Encephalitis, Polio 2192 6 1.0 C0751446 Poliomyelitis, Nonpoliovirus 2192 6 1.0 C0751447 Poliomyelitis, Preparalytic 2192 6 1.0 C1527258 Infantile paralysis 2192 6 1.0 C0007862 Cervico-Brachial Neuralgia 2138 6 0.999916502869803 C0085920 Brachial Neuralgia 2138 6 0.999916502869803 C0221759 Brachial Plexus Neuritis 2138 6 0.999916502869803 C0700251 Brachial Plexus Neuropathies 2138 6 0.999916502869803 C1510479 Neuralgic Amyotrophy 2138 6 0.999916502869803 C1834304 AMYOTROPHY, HEREDITARY NEURALGIC 2138 6 0.9995804126684312 C0013447 Ear Diseases 2068 6 0.9975842949713284 C1847593 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 2068 6 0.9995167617141693 C1850554 Atelosteogenesis type 2 2068 6 0.9995167617141693 C1850555 De La Chapelle Dysplasia 2068 6 0.9995167617141693 C1857255 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 2068 6 0.9995167617141693 C4023720 Cystic lesions of the pinnae 2068 6 0.9995167617141693 C1843807 Basal ganglia disease, biotin-responsive 1880 6 0.09961392733652241 C1851915 Abnormal facial muscle tone 1880 6 0.6973555473280061 C4023011 Craniofacial dystonia 1880 6 0.6973555473280061 C4072883 Abnormal craniofacial posture 1880 6 0.6973555473280061 C4310634 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 1880 6 0.24201927626570696 C4310743 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 1880 6 0.2752157980350304 C0023009 Speech and language disorder 1869 6 0.3117899244885336 C0264611 Apraxia of Phonation 1869 6 0.26536378664178795 C0751257 Auditory Processing Disorder, Central 1869 6 -0.06711214428919036 C3281084 Congenital disorder of glycosylation type 1r 1869 6 -0.1604413123167158 C4021845 Oromotor apraxia 1869 6 0.3874830477702107 C4310833 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 1869 6 0.11609787534550929 C0206750 Coronavirus Infections 1846 6 0.7293398185397326 C0282687 Hemorrhagic Fever, Ebola 1846 6 0.16044861831789892 C0702135 Primary atypical pneumonia 1846 6 0.8167081241366331 C1412002 Atypical pneumonia 1846 6 0.8167081241366331 C3694279 Middle East Respiratory Syndrome 1846 6 0.5768900183603317 C4540188 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 1846 6 0.8167081241366331 C0038870 Neuralgia, Supraorbital 1845 6 0.9999999999999997 C0042656 Neuralgia, Vidian 1845 6 0.9999999999999997 C0234247 Neuralgia, Atypical 1845 6 0.9999999999999997 C0234249 Neuralgia, Stump 1845 6 0.9999999999999997 C0423711 Neuralgia, Perineal 1845 6 0.9999999999999997 C0423712 Neuralgia, Iliohypogastric Nerve 1845 6 0.9999999999999997 C0151604 Genital edema 1819 6 0.738826503950998 C0272051 Xerocytosis 1819 6 0.5893949678546064 C1863769 Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 1819 6 0.738826503950998 C4025182 Exercise-induced hemolysis 1819 6 0.738826503950998 C4225184 LYMPHEDEMA, HEREDITARY, III 1819 6 0.738826503950998 C4225242 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 1819 6 -0.03416240762849514 C0022681 Medullary sponge kidney 1609 6 0.5518987748215982 C1836517 Senior-Loken Syndrome 5 1609 6 0.05944868530842296 C1846980 Senior-Loken Syndrome 3 1609 6 0.5607599672181636 C2939174 Medullary cystic disease 1609 6 0.45796531755379355 C3150877 SENIOR-LOKEN SYNDROME 7 1609 6 0.5749325326275226 C3889474 BARDET-BIEDL SYNDROME 16 1609 6 -0.15177959363882892 C0268626 Juvenile nephropathic cystinosis (disorder) 1567 6 1.0 C2749685 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 1567 6 1.0 C2931013 Cystinosis, benign, nonnephropathic 1567 6 1.0 C2931187 Nephropathic cystinosis 1567 6 1.0 C3537440 Cystinosis, Infantile Nephropathic 1567 6 1.0 C4316899 Cystinosis 1567 6 1.0 C0268553 Hyperlysinemias 1566 6 0.9817879696697652 C0268555 Hyperlysinemia, Periodic 1566 6 0.9963470750632383 C0268556 Saccharopinuria 1566 6 0.9963470750632383 C0936256 Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 1566 6 0.9963470750632383 C1527317 Alpha-Aminoadipic Semialdehyde Deficiency Disease 1566 6 0.9963470750632383 C2936921 Saccharopine dehydrogenase deficiency 1566 6 0.9963470750632383 C0010823 Cytomegalovirus Infections 1534 6 0.6755742786632634 C0026918 Mycobacterium Infections 1534 6 0.7287136674355542 C0340639 Carotid artery aneurysm 1534 6 0.8878052037818089 C3151088 IMMUNODEFICIENCY 31B 1534 6 0.8786081321831024 C3279990 CANDIDIASIS, FAMILIAL, 7 1534 6 0.8878052037818089 C4013950 IMMUNODEFICIENCY 31A 1534 6 0.8878052037818089 C0154209 Hyperestrogenism 1516 6 0.9920146521832814 C0242341 Sexual Infantilism 1516 6 0.9920146521832814 C0853662 Oestrogen deficiency 1516 6 0.9706426284991281 C1563718 Genital Infantilism 1516 6 0.9920146521832814 C1960539 Aromatase deficiency 1516 6 0.9819016919153035 C1970109 AROMATASE EXCESS SYNDROME 1516 6 0.9920146521832814 C1838780 Pancreatic Hypoplasia, Congenital, with Diabetes Mellitus and Congenital Heart Disease 1487 6 1.0 C2931296 Yorifuji Okuno syndrome 1487 6 1.0 C3280939 ATRIOVENTRICULAR SEPTAL DEFECT 5 1487 6 1.0 C3280943 ATRIAL SEPTAL DEFECT 9 1487 6 1.0 C3888085 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 1487 6 1.0 C4012454 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES 1487 6 1.0 C0154822 Serous retinal detachment 1473 6 0.28080632735466743 C0410192 Muscular Dystrophy, Scapulohumeral 1473 6 0.4300286354834094 C1834671 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 1473 6 -0.1668809338126489 C1834673 Facioscapulohumeral muscular dystrophy 1a 1473 6 0.10283219274560317 C1863878 Arhinia, choanal atresia, and microphthalmia 1473 6 0.3093822952710605 C3280205 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 1473 6 0.13086365991194404 C0205730 Hereditary Opalescent Dentin (disorder) 1447 6 0.9853361620923904 C1527284 Dental Pulp Stone 1447 6 0.929948550601483 C1854146 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 1447 6 0.9853361620923904 C2750327 Hearing loss, sensorineural (high frequency) 1447 6 0.9853361620923904 C2973527 Dentinogenesis imperfecta without osteogenesis imperfecta 1447 6 0.9853361620923904 C4049050 Opalescent dentin 1447 6 0.9853361620923904 C0268559 Hyperglycinemia 1355 6 0.2512969663981975 C0268560 Hyperglycinemia, Transient Neonatal 1355 6 0.7216867762318886 C0268561 Hyperglycinemia, Nonketotic, Type I 1355 6 0.8502898146267285 C0268562 Hyperglycinemia, Nonketotic, Type II 1355 6 0.8502898146267285 C0751747 Hyperglycinemia, Nonketotic, Type III 1355 6 0.8502898146267285 C0751748 Nonketotic Hyperglycinemia 1355 6 0.8454088393983017 C0007785 Cerebral Infarction 1339 6 0.736183748381762 C0751010 Cerebral Infarction, Left Hemisphere 1339 6 0.9416628771389914 C0751011 Cerebral Infarction, Right Hemisphere 1339 6 0.9416628771389914 C0751012 Anterior Choroidal Artery Infarction 1339 6 0.9416628771389914 C0751014 Subcortical Infarction 1339 6 0.9416628771389914 C0887799 Posterior Choroidal Artery Infarction 1339 6 0.9416628771389914 C0001890 Akinetic Petit Mal 1326 6 0.8258188499216335 C0014553 Absence Epilepsy 1326 6 0.6375263018664784 C0751124 Epilepsy, Absence, Atypical 1326 6 0.8258188499216335 C1838604 EPILEPSY, CHILDHOOD ABSENCE, 1 1326 6 0.2716756322258953 C4281785 Childhood Absence Epilepsy 1326 6 0.8269372775744822 C4317339 Juvenile Absence Epilepsy 1326 6 0.8258188499216335 C0268138 Xeroderma Pigmentosum, Complementation Group D 1293 6 0.7269472434849313 C1853102 Cerebrooculofacioskeletal Syndrome 2 1293 6 0.7387805067133496 C1866504 Photosensitive Trichothiodystrophy 1293 6 0.5817195090702659 C1866505 Ichthyosis, Congenital, with Trichothiodystrophy 1293 6 0.7387805067133496 C1955934 Trichothiodystrophy Syndromes 1293 6 0.1967493747646558 C4024961 Metachromatic leukodystrophy variant 1293 6 0.7387805067133496 C0020630 Hypophosphatasia 1246 6 0.7702237644487501 C0220743 Childhood hypophosphatasia (disorder) 1246 6 0.9525312228095093 C0268412 Infantile hypophosphatasia 1246 6 0.9525312228095093 C0268413 Adult hypophosphatasia (disorder) 1246 6 0.9525312228095093 C1840322 ODONTOHYPOPHOSPHATASIA (disorder) 1246 6 0.9525312228095093 C2673477 Hypophosphatasia, Perinatal Lethal 1246 6 0.9525312228095093 C0238304 Chronic interstitial nephritis 1221 6 0.5079926130781431 C1865872 NEPHRONOPHTHISIS 2 1221 6 -0.18636023610443736 C3280598 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY 1221 6 0.6435137564077629 C3280612 NEPHRONOPHTHISIS 13 1221 6 0.6435137564077629 C3280616 CRANIOECTODERMAL DYSPLASIA 4 1221 6 0.4321476416969241 C4225376 SENIOR-LOKEN SYNDROME 8 1221 6 0.6435137564077629 C0741916 Cardiac defects 1211 6 0.1695060358123374 C1842778 Atrial septal defect 2 1211 6 0.8020305089104421 C2931638 Chromosome 8, monosomy 8p23 1 1211 6 0.8020305089104421 C3280777 VENTRICULAR SEPTAL DEFECT 1 1211 6 0.8020305089104421 C3280781 ATRIOVENTRICULAR SEPTAL DEFECT 4 1211 6 0.8020305089104421 C3809858 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE 1211 6 0.8020305089104421 C0152101 Hypoplastic Left Heart Syndrome 1207 6 0.19307825837371637 C2673630 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 1207 6 0.7703110005684497 C3276096 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS 1207 6 0.7703110005684497 C3280785 VENTRICULAR SEPTAL DEFECT 3 1207 6 0.7703110005684497 C3280795 HYPOPLASTIC LEFT HEART SYNDROME 2 1207 6 0.602452932946423 C3502353 Atrial Septal Defect with Atrioventricular Conduction Defects 1207 6 0.7703110005684497 C0156259 Hypertrophy of kidney 1198 6 0.9755319573696319 C1832855 CHOREOATHETOSIS/SPASTICITY, EPISODIC 1198 6 0.9755319573696319 C1837206 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 1198 6 0.9755319573696319 C1842534 DYSTONIA 18 (disorder) 1198 6 0.8296927339960722 C1847501 Glut1 Deficiency Syndrome 1198 6 0.9755319573696319 C3149117 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 1198 6 0.9755319573696319 C0342482 X-linked Adrenal Hypoplasia 1180 6 0.458298165746049 C0795887 Complex Glycerol Kinase Deficiency 1180 6 0.8097284676200114 C1848296 DOSAGE-SENSITIVE SEX REVERSAL 1180 6 0.7768800640432095 C1868690 Hypoadrenocorticism, familial 1180 6 0.780931783419923 C3887896 Primary Adrenal Insufficiency 1180 6 0.626300617743963 C4505291 Xp21 Contiguous Gene Deletion Syndrome 1180 6 0.8097284676200114 C1839730 Prieto X-linked mental retardation syndrome 1175 6 0.8074109953909597 C1842462 CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 1175 6 0.967585231757277 C1861922 CAMPOMELIC DYSPLASIA 1175 6 0.9602083185141668 C1861923 Acampomelic Campomelic Dysplasia 1175 6 0.967585231757277 C3549544 ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL 1175 6 0.967585231757277 C4225331 46,XY SEX REVERSAL 10 1175 6 0.967585231757277 C0008928 Cleidocranial Dysplasia 1173 6 0.920800854302555 C0949690 Spondylarthritis 1173 6 0.7980260053315987 C1834969 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 1173 6 0.9586769150749567 C1838416 CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY 1173 6 0.9586769150749567 C1861516 Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly 1173 6 0.9586769150749567 C3549874 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY 1173 6 0.9586769150749567 C0268120 Adenine phosphoribosyltransferase deficiency 1166 6 0.7256790722110227 C0268121 APRT deficiency, Japanese type 1166 6 0.7256790722110227 C0451641 Urolithiasis 1166 6 0.5717990491838535 C1291390 Deficiency of phosphorylase kinase 1166 6 0.7256790722110227 C1833683 NEPHROLITHIASIS, CALCIUM OXALATE 1166 6 -0.3937066871201299 C3665382 2,8-Dihydroxyadenine Urolithiasis 1166 6 0.7256790722110227 C0042781 Visceral Myopathy 1125 6 0.2600350815686713 C0238062 Chronic intestinal pseudo-obstruction 1125 6 0.8851738954991655 C0266833 Visceral Myopathy, Familial 1125 6 0.8851738954991655 C1608393 Megacystis microcolon intestinal hypoperistalsis syndrome 1125 6 0.62797264358772 C1835084 Megaduodenum and-or Megacystis 1125 6 0.8823397396478201 C1864996 Visceral Neuropathy, Familial, Autosomal Dominant 1125 6 0.8851738954991655 C0178540 Cerebral Hypoxia-Ischemia 1104 6 0.9999700955708143 C0752304 Hypoxic-Ischemic Encephalopathy 1104 6 0.9999700955708143 C0752305 Anoxic-Ischemic Encephalopathy 1104 6 0.9999700955708143 C0752306 Anoxia-Ischemia, Brain 1104 6 0.9999700955708143 C0752307 Anoxia-Ischemia, Cerebral 1104 6 0.9999700955708143 C0752308 Hypoxia-Ischemia, Brain 1104 6 0.9998511816605855 C0021603 Sleep Initiation and Maintenance Disorders 1098 6 1.0 C0033139 Primary Insomnia 1098 6 1.0 C0349255 Nonorganic Insomnia 1098 6 1.0 C0751249 Chronic Insomnia 1098 6 1.0 C0751250 Psychophysiological Insomnia 1098 6 1.0 C0751252 Sleep Initiation Dysfunction 1098 6 1.0 C0162283 Nephrogenic Diabetes Insipidus 1046 6 0.6716125817355577 C0268443 Acquired Nephrogenic Diabetes Insipidus 1046 6 0.8729109664129233 C0677501 Congenital Nephrogenic Diabetes Insipidus 1046 6 0.8667894723606531 C1563705 Nephrogenic Diabetes Insipidus, Type I 1046 6 0.7217464232958005 C1563706 Nephrogenic Diabetes Insipidus, Type II 1046 6 0.8571295676595558 C3542500 ADH-Resistant Diabetes Insipidus 1046 6 0.8729109664129233 C0751783 Lafora Disease 1040 6 0.8561320175414928 C0751784 Lafora Body Disease, Late Onset 1040 6 0.8592873956258936 C0877017 Generalized tonic-clonic seizures with focal onset 1040 6 0.24941196879596317 C1850764 EPILEPSY, PROGRESSIVE MYOCLONIC 2B 1040 6 0.8496640535115283 C1850765 Visual auras 1040 6 0.8592873956258936 C4317153 Simple partial occipital seizures 1040 6 0.8592873956258936 C0024899 Mastocytosis 1027 6 0.5921624288427199 C0263402 Telangiectasia macularis eruptiva perstans 1027 6 0.7060233065158887 C1275345 Familial mastocytosis 1027 6 0.7060233065158887 C1837203 WAARDENBURG SYNDROME, TYPE IID 1027 6 0.08207467360116744 C4024848 Absent pigmentation of the ventral chest 1027 6 0.6806030340524898 C4509020 Isolated bone marrow mastocytosis 1027 6 0.7060233065158887 C0544008 Chandler syndrome 958 6 0.6827524243787404 C1611195 Congenital corneal dystrophy 958 6 0.6297921518794525 C1857569 CORNEAL ENDOTHELIAL DYSTROPHY 2 958 6 0.7287780007678624 C1857572 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 958 6 0.7278186576440692 C1864738 Corneal Dystrophy, Congenital Stromal 958 6 -0.17014940073170412 C2750450 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 958 6 0.7282043878719502 C0028850 Ocular Motility Disorders 944 6 1.0 C1836217 Tukel syndrome 944 6 1.0 C2748801 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 944 6 1.0 C2750404 Fibrosis of Extraocular Muscles, Congenital, 3C 944 6 1.0 C3808397 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 944 6 1.0 C4024789 Nonprogressive restrictive external ophthalmoplegia 944 6 1.0 C0025294 Meningococcal meningitis 940 6 0.9929727990825112 C1135745 Meningitis, Meningococcal, Serogroup A 940 6 0.9985813178854251 C1135746 Meningitis, Meningococcal, Serogroup B 940 6 0.9985813178854251 C1135747 Meningitis, Meningococcal, Serogroup C 940 6 0.9985813178854251 C1136209 Meningitis, Meningococcal, Serogroup Y 940 6 0.9985813178854251 C1136210 Meningitis, Meningococcal, Serogroup W-135 940 6 0.9985813178854251 C0024507 Majewski Syndrome 936 6 0.5231244844161741 C0036069 Saldino-Noonan Syndrome 936 6 0.6762227358374404 C0036996 Short Rib-Polydactyly Syndrome 936 6 0.5316105865537413 C0265275 Jeune thoracic dystrophy 936 6 0.30895256662858583 C0432197 Short rib-polydactyly syndrome, Verma-Naumoff type 936 6 0.3998405138434269 C2910340 Asphyxiating thoracic dysplasia [Jeune] 936 6 0.09035794376709302 C1328349 Neuropathy ataxia and retinis pigmentosa 926 6 0.9465858934337152 C1838916 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 926 6 0.9495225248828499 C1839022 Striatonigral Degeneration, Infantile, Mitochondrial 926 6 0.9495225248828499 C3275684 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 926 6 0.9495225248828499 C4225415 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 926 6 0.7476245432308887 C4225591 MITOCHONDRIAL MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 (1 patient) 926 6 0.9495225248828499 C1838951 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 882 6 0.9453374912035757 C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency 882 6 0.9873688425590115 C1850598 Leigh Syndrome due to Mitochondrial Complex III Deficiency 882 6 0.9816719682209066 C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 882 6 0.9718465546669443 C1850600 Leigh Syndrome due to Mitochondrial Complex V Deficiency 882 6 0.9873688425590115 C2931891 Necrotizing encephalopathy, infantile subacute, of Leigh 882 6 0.9873688425590115 C0220697 POLYDACTYLY, POSTAXIAL 868 6 0.5682198279234147 C0265220 Pallister-Hall syndrome 868 6 0.865975550237643 C1868111 Polydactyly, preaxial 4 868 6 0.8665761683321247 C1868120 POSTAXIAL POLYDACTYLY, TYPE B 868 6 0.8665761683321247 C3887487 Postaxial polydactyly type A 868 6 0.6869535062136103 C4282400 Polydactyly, Postaxial, Type A1 868 6 0.8665761683321247 C0024408 Machado-Joseph Disease 830 6 0.6582368518814944 C0751668 Machado-Joseph Disease Type I 830 6 0.8325850514228235 C0751669 Machado-Joseph Disease Type II 830 6 0.8325850514228235 C0751670 Machado-Joseph Disease Type III 830 6 0.8325850514228235 C0751671 Machado-Joseph Disease Type IV 830 6 0.8325850514228235 C1866751 Spinocerebellar tract degeneration 830 6 0.14732935719479365 C1842704 GAUCHER DISEASE, PERINATAL LETHAL 825 6 1.0 C1856476 Gaucher Disease, Type Iiic 825 6 1.0 C1856491 Gaucher Disease, Type IIIa 825 6 1.0 C1856492 Gaucher Disease, Type IIIb 825 6 1.0 C1856493 Gaucher Disease, Norrbottnian Type 825 6 1.0 C2931585 Gaucher-like disease 825 6 1.0 C0398621 Hypoplasminogenemia 806 6 1.0 C1274789 Ligneous conjunctivitis 806 6 1.0 C1535950 Gastrointestinal inflammation 806 6 1.0 C1968804 Plasminogen Deficiency, Type I 806 6 1.0 C4024810 Chronic irritative conjunctivitis 806 6 1.0 C4225445 PLASMINOGEN DEFICIENCY, TYPE II 806 6 1.0 C0027127 Myotonia Congenita 774 6 0.9195857753535644 C0270959 Myotonia Levior 774 6 0.9337628705207531 C0751360 Becker Generalized Myotonia 774 6 0.9416770846910938 C1828221 Non dystrophic myotonia 774 6 0.5916309905416627 C1959600 Obscure African cardiomyopathy 774 6 0.86557682095558 C2936781 Generalized Myotonia of Thomsen 774 6 0.9407652883991425 C0011859 Lipoatrophic Diabetes Mellitus 746 6 0.36580806686310957 C0023787 Lipodystrophy 746 6 0.0743521593453603 C0221032 Familial generalized lipodystrophy 746 6 0.4000841229578398 C0494360 Lipodystrophy, not elsewhere classified 746 6 0.3287782726532428 C1720862 Congenital Generalized Lipodystrophy Type 1 746 6 0.4272663183655444 C1837792 Insulin-resistant diabetes mellitus at puberty 746 6 0.03079288675942452 C1832274 Charcot-Marie-Tooth disease, Type 2D 745 6 0.040275470747361944 C1833308 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 745 6 -0.5162988033870547 C1847823 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 745 6 0.35491278412544003 C2608087 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 745 6 0.36126552597097733 C4021523 Upper limb amyotrophy 745 6 0.5378508719436678 C4021578 Chronic axonal neuropathy 745 6 0.16708847183798495 C0432418 Trisomy 21- mitotic nondisjunction mosaicism 724 6 1.0 C1839161 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 724 6 1.0 C1845837 Dyserythropoietic Anemia with Thrombocytopenia 724 6 1.0 C1860788 Transient Myeloproliferative Disorder of Down Syndrome 724 6 1.0 C3550789 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA 724 6 1.0 C3550856 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES 724 6 1.0 C0175709 Centronuclear myopathy 682 6 0.8546918196130492 C0410207 Tubular Aggregate Myopathy 682 6 0.6631948388596702 C0752282 Congenital Structural Myopathy 682 6 0.9232303378560696 C1834558 Myopathy, Centronuclear, Autosomal Dominant 682 6 0.803101685997116 C3645536 Autosomal Recessive Centronuclear Myopathy 682 6 0.866695872504498 C3661489 Autosomal Dominant Myotubular Myopathy 682 6 0.9192655950558108 C0025637 Methemoglobinemia 658 6 0.35530870263789033 C0272087 Congenital Methemoglobinemia 658 6 0.7408610909015111 C2749559 Methemoglobinemia, Type I 658 6 0.8600842424357462 C2749560 Methemoglobinemia, Type Ii 658 6 0.8600842424357462 C2749561 Nadh-Cytochrome B5 Reductase Deficiency, Type I 658 6 0.8600842424357462 C2749562 Nadh-Cytochrome B5 Reductase Deficiency, Type Ii 658 6 0.8600842424357462 C0409896 Familial chondrocalcinosis 605 6 0.8107807238763005 C0553730 Calcium pyrophosphate deposition disease 605 6 0.25544011358995566 C0856830 Calcium pyrophosphate arthropathy 605 6 0.8107807238763005 C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT 605 6 0.8018733275064214 C3279807 CRANIOECTODERMAL DYSPLASIA 3 605 6 0.7028732630561377 C4025258 Polyarticular chondrocalcinosis 605 6 0.8107807238763005 C0796124 Proud Syndrome 592 6 0.9403819438830305 C0796244 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 592 6 0.9403819438830305 C0796250 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 592 6 0.7277606204613148 C1846171 Lissencephaly, X-Linked, 2 592 6 0.9403819438830305 C1846172 Hydranencephaly and Abnormal Genitalia 592 6 0.9403819438830305 C3463992 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 592 6 0.8317749686210503 C0024214 Lymphangiectasis 530 6 0.6760153254740777 C0024236 Lymphedema 530 6 -0.03265059806078997 C0238261 Lymphedema praecox 530 6 -0.10396767524034861 C1313885 Hereditary edema of legs 530 6 0.6760153254740776 C1704423 Milroy Disease 530 6 0.535007958582348 C4014628 LYMPHEDEMA, HEREDITARY, ID 530 6 0.36209830077269245 C0543968 Cone dysfunction syndrome 476 6 0.9195113948520234 C1844776 CONE-ROD DYSTROPHY, X-LINKED, 1 476 6 0.982799499958127 C1844777 CONE DYSTROPHY, X-LINKED, 1 476 6 0.982799499958127 C1845667 RETINITIS PIGMENTOSA 3 476 6 0.9810461578484403 C2749137 Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness 476 6 0.982799499958127 C3151784 MACULAR DEGENERATION, X-LINKED ATROPHIC 476 6 0.982799499958127 C0033805 Pseudohypoaldosteronism 465 6 0.9073194465792669 C0268436 Pseudohypoaldosteronism, Type I 465 6 0.8516603464180327 C1449842 Pseudohypoaldosteronism, Type I, Autosomal Dominant 465 6 0.8459241119750609 C1449843 Pseudohypoaldosteronism, Type I, Autosomal Recessive 465 6 0.7669637710651006 C1449844 Pseudohypoaldosteronism, Type II 465 6 0.8831743254279572 C2713447 Hyperpotassemia and Hypertension, Familial 465 6 0.9145633486790216 C2677565 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 438 6 0.9826350552897193 C2718017 TDP-43 Proteinopathies 438 6 0.9010351908350996 C3148872 FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED 438 6 0.9826350552897193 C3150169 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED 438 6 0.9826350552897193 C3150171 FTLD-TDP, TARDBP-RELATED 438 6 0.9826350552897193 C3502417 Amyotrophic Lateral Sclerosis 10 438 6 0.9826350552897193 C0037278 Skin Diseases, Infectious 420 6 0.4793991561126819 C0149778 Soft Tissue Infections 420 6 0.9162993573373813 C0264515 Pneumonia, Necrotizing 420 6 0.9415573225512234 C1846130 Mental retardation X-linked, South African type 420 6 0.9415573225512234 C1846131 Photosensitive tonic-clonic seizures 420 6 0.9415573225512234 C2678194 Mental Retardation, X-Linked, Syndromic, Christianson Type 420 6 0.9415573225512234 C0033847 Pseudoxanthoma Elasticum 393 6 0.6277812709146933 C0376359 Gronblad-Strandberg Syndrome 393 6 0.7490896919873697 C1867450 Pseudoxanthoma Elasticum, Incomplete 393 6 0.8318675900603175 C3279392 PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF 393 6 0.7490896919873695 C3279393 PXE, MODIFIER OF SEVERITY OF 393 6 0.7490896919873695 C4531299 Premature occlusive vascular stenosis 393 6 0.09607115322396818 C0472761 Homozygous alpha thalassemia 366 6 0.970112026302299 C0475813 Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder 366 6 0.9663750839256856 C0795917 Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 366 6 0.9701120263022999 C0878520 beta Thalassemia, heterozygous 366 6 0.8692861543865809 C1260396 Alpha thalassemia intermedia 366 6 0.970112026302299 C3161174 Hemoglobin H Disease 366 6 0.9066147473341469 C0432317 Epidermolysis bullosa simplex, Ogna type 351 6 0.9524686161520819 C2677349 Epidermolysis Bullosa Simplex With Pyloric Atresia 351 6 0.8428389374271241 C2931072 Epidermolysa bullosa simplex and limb girdle muscular dystrophy 351 6 0.9524686161520819 C3150989 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 351 6 0.9524686161520819 C4024942 Late-onset muscular dystrophy 351 6 0.7987897505255578 C4225309 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 351 6 0.9524686161520819 C0221259 Trichiasis 348 6 1.0 C0395973 Recessive sensorineural hearing loss 348 6 1.0 C0452136 Conductive hearing loss, bilateral 348 6 1.0 C0478084 Other congenital ichthyosis 348 6 1.0 C1865234 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 348 6 1.0 C2675750 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 348 6 1.0 C0029442 Osteomalacia 339 6 0.005119648623869788 C0235394 Wasting 339 6 0.5685219587206719 C0282201 Phosphate Diabetes 339 6 0.6406903121444236 C0342642 Autosomal dominant hypophosphatemic rickets 339 6 0.7228593942170659 C1274103 Oncogenic osteomalacia 339 6 0.4945454270121712 C1704375 Hypophosphatemic Rickets 339 6 0.37658901230364716 C0393698 Cryptogenic Infantile Spasms 306 6 0.9757643589272029 C0393699 Symptomatic Infantile Spasms 306 6 0.9757643589272029 C0546878 Nodding spasm 306 6 0.9757643589272029 C0553558 Jackknife Seizures 306 6 0.9757643589272029 C1527306 spasmus nutans 306 6 0.9757643589272029 C1527366 Salaam Seizures 306 6 0.8865591049575577 C0010273 Craniofacial Dysostosis 268 6 0.8588026681281741 C1852406 Cutis Gyrata Syndrome of Beare And Stevenson 268 6 0.9112906808164984 C1863391 Vogt Cephalodactyly 268 6 0.9112906808164984 C1865070 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 268 6 0.9112906808164984 C2931196 Craniofacial dysostosis type 1 268 6 0.7191212210966239 C3281247 BENT BONE DYSPLASIA SYNDROME 268 6 0.9112906808164984 C0012715 Iron Metabolism Disorders 241 6 0.07286689849100723 C0282193 Iron Overload 241 6 -0.07758041863174105 C0878682 Ceruloplasmin deficiency 241 6 0.4789998994576784 C1853733 HEMOCHROMATOSIS, TYPE 4 241 6 -0.14581722369853062 C1858583 HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA 241 6 0.26468488753674224 C2931082 Familial apoceruloplasmin deficiency 241 6 0.49855821913827664 C0000833 Abscess 222 6 0.581505321423442 C0268419 Acatalasia 222 6 0.8911954096941628 C0752048 Hypocatalasemia 222 6 0.8911954096941628 C2931868 Catalase deficiency 222 6 0.8911954096941628 C2936847 Acatalasemia Japanese type 222 6 0.8911954096941628 C2936848 Acatalasemia Swiss type 222 6 0.8911954096941628 C0033300 Progeria 184 6 0.6345171388494887 C0270254 Hydrops of placenta 184 6 0.8972865878833377 C0406585 Lethal tight skin contracture syndrome (disorder) 184 6 0.7831239416459349 C0685924 Adhesions of temporomandibular joint 184 6 0.8972865878833377 C1136321 HIV-Associated Lipodystrophy Syndrome 184 6 0.8938924883299557 C2931375 Temporomandibular ankylosis 184 6 0.8972865878833377 C0011156 Deficiency Diseases 180 6 0.36174723865131375 C0035066 Renal Artery Obstruction 180 6 0.5159609591113244 C0232197 Fibrillation 180 6 0.21342216278468734 C0270780 Degenerative myelopathy 180 6 0.5159609591113244 C3542025 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 180 6 0.1648685959396861 C3825201 Mitochondrial pathology 180 6 0.4423756692204582 C0020595 Hypoaldosteronism 157 6 0.1961937930001835 C0268293 Corticosterone Methyl Oxidase Type I Deficiency 157 6 0.5550612094891115 C0376185 Hypoaldosteronism, Hyporeninemic 157 6 0.5550612094891115 C0701163 Adrenogenital disorder 157 6 0.32536153033283927 C3463917 Corticosterone Methyl Oxidase Type II Deficiency 157 6 0.5550612094891115 C3713420 Familial Hyperaldosteronism 157 6 0.11995130846431504 C0003510 Aortitis Syndrome 156 6 -0.14479271600563814 C0041228 African Trypanosomiasis 156 6 -0.05304669301863994 C0085740 Mendelson Syndrome 156 6 -0.14479271600563814 C0340520 Athlete\'s heart 156 6 0.39154354883114173 C1321756 Achalasia 156 6 -0.20450268771115046 C1867403 Pyloric Stenosis, Infantile Hypertrophic 1 156 6 -0.3744174322734409 C0034155 Purpura, Thrombotic Thrombocytopenic 134 6 0.5312407558490873 C0857305 Thrombocytopenic purpura 134 6 0.3659108438937827 C1268935 Congenital Thrombotic Thrombocytopenic Purpura 134 6 0.757993938688153 C1956258 Familial Thrombotic Thrombocytopenic Purpura 134 6 0.6165879237346181 C2584778 Thrombotic thrombocytopenic purpura, acquired 134 6 0.7035526508124396 C2717961 Thrombotic Microangiopathies 134 6 0.15056548950475487 C0014356 Enterocolitis 112 6 -0.26023673847019496 C0751422 Hereditary Autoinflammatory Diseases 112 6 0.4770185289907792 C1096155 Macrophage Activation Syndrome 112 6 0.4606583798699249 C4015067 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS 112 6 0.46628036569364917 C4015276 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 112 6 0.46628036569364917 C4225218 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 112 6 -0.1117809686920282 C0031069 Familial Mediterranean Fever 86 6 0.9229180407194504 C0085574 Palindromic rheumatism 86 6 0.9279116111185013 C0151859 Polyserositis 86 6 0.9279116111185013 C0585274 Periodic syndrome 86 6 0.7999244510282996 C1851347 Familial Mediterranean Fever, Autosomal Dominant 86 6 0.9279116111185013 C3267073 Autoinflammatory disease 86 6 0.696311485670011 C0019247 Hereditary Diseases 73 6 0.8360101580381964 C0037176 Single-Gene Defects 73 6 0.8425313121540062 C0342646 Vitamin D-Dependent Rickets, Type 2A 73 6 0.836185209202593 C1956089 Osteophyte 73 6 0.5536156371508102 C2363065 Vitamin D-resistant rickets 73 6 0.8425313121540062 C3536983 Familial Hypophosphatemic Rickets 73 6 0.19183222630195926 C0030499 Parasitic Diseases 66 6 0.70907731445352 C0033838 Kimura Disease 66 6 0.9266062655996742 C0155880 Intrinsic asthma 66 6 0.9266062655996742 C0311368 Idiopathic eosinophilia 66 6 0.9266062655996742 C1262481 Eosinophilic gastroenteritis 66 6 0.9266062655996742 C1322281 Seasonal rhinitis 66 6 0.9266062655996742 C0235419 Hyperuricemic nephropathy 50 6 0.997573961104989 C0268113 Familial juvenile gout 50 6 0.9966212883734452 C1835934 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 50 6 0.997573961104989 C1859040 Medullary Cystic Kidney Disease Type 2 50 6 0.997573961104989 C3280216 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 50 6 0.997573961104989 C4020705 Glomerulocystic kidney disease 50 6 0.99059824428434 C0085650 Purpura Fulminans 36 6 0.8916783680304334 C0398625 Protein C Deficiency 36 6 0.9422861413937801 C2674321 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 36 6 0.9696119568196485 C2674322 Protein C Deficiency, Acquired 36 6 0.9696119568196485 C2676759 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE 36 6 0.9696119568196485 C2930896 Congenital thrombotic disease, due to Protein C deficiency 36 6 0.9696119568196485 C0015499 Hereditary Factor V Deficiency 15 6 0.9904669110156423 C0235522 Disorder of vein 15 6 0.9904669110156423 C0749087 Thrombosis of subclavian vein 15 6 0.9904669110156423 C1853831 Bleeding Disorder, East Texas Type 15 6 0.9904669110156423 C1861171 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 15 6 0.9904669110156423 C2584620 Thrombophilia, hereditary 15 6 0.9353652690662111 C0007177 Cardiac Tamponade 14 6 0.729147014733889 C0025309 Meningoencephalitis 14 6 0.4988036876970461 C0085307 Embolism and Thrombosis 14 6 0.443470289383963 C0750949 Vertebrogenic Pain Syndrome 14 6 0.7301506248948058 C2676721 Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator 14 6 0.7301506248948058 C2676722 Hyperfibrinolysis, Familial, Due To Increased Release Of Tissue Plasminogen Activator 14 6 0.7301506248948058 C0043116 HMN (Hereditary Motor Neuropathy) Proximal Type I 4 6 0.8476156844818349 C0152109 Juvenile Spinal Muscular Atrophy 4 6 0.8970216147428826 C0393538 Muscular Atrophy, Spinal, Type II 4 6 0.870294302748658 C0700595 Spinal Muscular Atrophies of Childhood 4 6 0.790786147345337 C1838230 SPINAL MUSCULAR ATROPHY, TYPE IV 4 6 0.6303982245856342 C2931358 Muscular atrophy, spinal, infantile chronic form 4 6 0.8531152755277495 C0268241 Pancreatic colipase deficiency 2083 5 1.0 C3280527 PANCREATIC LIPASE DEFICIENCY 2083 5 1.0 C3280528 COLIPASE, CONGENITAL ABSENCE OF PANCREATIC 2083 5 1.0 C3280529 LIPASE AND COLIPASE, DEFICIENCY OF 2083 5 1.0 C3280530 LIPASE AND COLIPASE, CONGENITAL ABSENCE OF PANCREATIC 2083 5 1.0 C0860207 Drug-Induced Liver Disease 2047 5 0.9956175355546922 C1262760 Hepatitis, Drug-Induced 2047 5 0.9988916089233896 C3658290 Drug-Induced Acute Liver Injury 2047 5 0.9988890574812221 C4277682 Chemical and Drug Induced Liver Injury 2047 5 0.9988890574812221 C4279912 Chemically-Induced Liver Toxicity 2047 5 0.9988890574812221 C1840364 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY 2019 5 0.673654338282343 C2937288 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT 2019 5 0.6748968612989924 C2940786 Thyroid Hormone Resistance Syndrome 2019 5 0.5561212833631795 C3280817 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 2019 5 0.0563628462130201 C3489796 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 2019 5 0.6748968612989924 C0406740 Kohlschutter Tonz syndrome 1995 5 0.14818376254225496 C1291560 Deficiency of glutamate decarboxylase 1995 5 0.5501185709836273 C1849508 EPILEPSY, PYRIDOXINE-DEPENDENT 1995 5 0.4039462108640794 C4014621 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 1995 5 0.2836531644246132 C4310632 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 1995 5 0.2487001495425813 C1850343 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1974 5 0.5511721923257112 C1864389 PREMATURE CHROMATID SEPARATION TRAIT 1974 5 0.1419757855409024 C2931286 Warburton Anyane Yeboa syndrome 1974 5 0.5215177041417288 C3279843 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 1974 5 0.20760954377828894 C4539839 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 1974 5 0.15638233159140782 C0014378 Enterovirus Infections 1854 5 0.010236797056306087 C2931008 Congenital disorder of glycosylation type 2A 1854 5 0.149443061123438 C2931009 Congenital disorder of glycosylation type 2D 1854 5 0.11198046221541229 C2931011 Congenital disorder of glycosylation, type 2G 1854 5 0.20045215157456567 C3150876 COG5 congenital disorder of glycosylation 1854 5 0.16907535155741946 C1847532 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 1851 5 0.9965337209002978 C1850808 Miyoshi myopathy 1851 5 0.9961809138274639 C1850889 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 1851 5 0.9965337209002978 C2931687 Dysferlinopathy 1851 5 0.9859542812342195 C4511057 Congenital muscular dystrophy Paradas type 1851 5 0.9965337209002978 C0006849 Oral candidiasis 1850 5 0.8413149348987934 C0006852 Candidiasis of vagina 1850 5 0.8515444593020821 C0022408 Arthropathy 1850 5 0.3414743229593591 C0700345 Candidiasis, Vulvovaginal 1850 5 0.844857995033026 C0860029 Vaginal Yeast Infections 1850 5 0.8523649125651104 C0024900 Mastocytosis, Bullous 1847 5 0.8519229792530103 C0027430 Nasal Polyps 1847 5 0.40002842088441914 C1835039 Melanosis, Universal 1847 5 0.8519229792530103 C1840392 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 1847 5 0.8519229792530103 C4225241 DEAFNESS, AUTOSOMAL DOMINANT 69 1847 5 0.8519229792530103 C1836756 ARTHROGRYPOSIS, DISTAL, TYPE 4 (disorder) 1833 5 1.0 C1852597 Arthrogryposis, distal, type 2E 1833 5 1.0 C1861238 ARTHROGRYPOSIS, DISTAL, TYPE 10 1833 5 1.0 C1862471 Arthrogryposis-like hand anomaly and sensorineural deafness 1833 5 1.0 C4015286 MACULAR DEGENERATION, EARLY-ONSET 1833 5 1.0 C0034888 Rectal Prolapse 1829 5 0.024202610121139456 C0042025 Urinary Stress Incontinence 1829 5 0.7252449028092532 C0264885 Myxoid transformation of mitral valve 1829 5 0.8035512099629083 C3554279 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 1829 5 0.7956855749996385 C4509918 Polyvalvular heart disease syndrome 1829 5 0.8035512099629083 C0263505 Alopecia universalis 1795 5 0.7599652544730336 C0477506 Other specified nonscarring hair loss 1795 5 0.6383419119718972 C1859592 ATRICHIA WITH PAPULAR LESIONS 1795 5 0.8345991507240464 C2750815 Marie Unna Hereditary Hypotrichosis 1 1795 5 0.8169625301232976 C2931059 Marie Unna congenital hypotrichosis 1795 5 0.7014044744662146 C1859228 Cerebrohepatorenal Syndrome, Variant Types 1771 5 1.0 C3550234 PEROXISOME BIOGENESIS DISORDER 2B 1771 5 1.0 C3550273 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 1771 5 1.0 C3550274 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 2 1771 5 1.0 C4225237 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 1771 5 1.0 C0393912 Segmental Autonomic Dysfunction 1765 5 1.0 C0750944 Peripheral Autonomic Nervous System Diseases 1765 5 1.0 C0750945 Nervous System Diseases, Parasympathetic 1765 5 1.0 C0750946 Nervous System Diseases, Sympathetic 1765 5 1.0 C3151237 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1765 5 1.0 C0014518 Toxic Epidermal Necrolysis 1761 5 0.9792880143267102 C0038325 Stevens-Johnson Syndrome 1761 5 0.9489095532310959 C1274933 Drug-Induced Stevens Johnson Syndrome 1761 5 0.9830270376917698 C3658301 Mycoplasma-Induced Stevens-Johnson Syndrome 1761 5 0.9826946859372083 C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 1761 5 0.9839219830945674 C0018523 Hallervorden-Spatz Syndrome 1760 5 0.4707302901047674 C0393577 Pallidal degeneration 1760 5 0.5824712588268566 C1846582 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration 1760 5 0.5824712588268566 C2931845 Neurodegeneration with brain iron accumulation (NBIA) 1760 5 0.6036299741422387 C3550973 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 1760 5 0.0008224967299390304 C0268747 Diffuse mesangial sclerosis (disorder) 1753 5 0.7469414548670076 C1836876 Pierson syndrome 1753 5 0.9315031633475364 C3280113 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 1753 5 0.9455386127908967 C3489732 Familial mesangial sclerosis 1753 5 0.9455386127908967 C3501249 Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome 1753 5 0.9455386127908967 C0282529 Chondrodysplasia Punctata, Rhizomelic 1752 5 0.984171769965373 C1859133 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 1752 5 0.99601650388692 C1866351 Peroxisome Biogenesis Disorder, Complementation Group 11 1752 5 0.99601650388692 C1866352 Peroxisome Biogenesis Disorder, Complementation Group R 1752 5 0.99601650388692 C2749346 Refsum Disease, Adult, 2 1752 5 0.99601650388692 C1837317 Alpha-B Crystallinopathy 1747 5 1.0 C3151065 Cataract, Posterior Polar, 2 1747 5 1.0 C3151236 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 1747 5 1.0 C3554649 CARDIOMYOPATHY, DILATED, 1II 1747 5 1.0 C3808377 CATARACT 16, MULTIPLE TYPES 1747 5 1.0 C0265205 Robinow Syndrome 1735 5 0.24041064500963052 C0265856 Hypoplasia of right heart 1735 5 0.5925835487683471 C0344963 Right hypoplastic heart syndrome 1735 5 0.5925835487683471 C4225164 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 1735 5 0.5925835487683471 C4225363 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 1735 5 0.055851280077416444 C0023374 Lesch-Nyhan Syndrome 1710 5 0.8221210310651944 C0221168 Podagra 1710 5 0.8225380418005229 C0268117 Gout, HPRT-Related 1710 5 0.8097022518955959 C0740394 Hyperuricemia 1710 5 0.03535227515319863 C1845892 Lesch-Nyhan Syndrome, Neurologic Variant 1710 5 0.8225380418005229 C0403719 Uric acid urolithiasis 1709 5 0.6422766674534127 C0796028 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 1709 5 0.9223452179428305 C1839566 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 1709 5 0.9223452179428305 C1844677 DEAFNESS, X-LINKED 1 (disorder) 1709 5 0.9223452179428305 C1970827 Phosphoribosylpyrophosphate Synthetase Superactivity 1709 5 0.9223452179428305 C0221333 Hypouricemia 1708 5 0.12946930590856384 C0473219 Renal hypouricemia 1708 5 0.6077058483608576 C0744466 gout tophaceous 1708 5 0.730238388189677 C2677549 Hypouricemia, Renal, 2 1708 5 0.730238388189677 C2677551 GOUT SUSCEPTIBILITY 2 1708 5 0.730238388189677 C0270972 Cornelia De Lange Syndrome 1694 5 0.4819065234682655 C0271007 Phthisis bulbi 1694 5 0.1501664216321542 C1802395 Congenital muscular hypertrophy-cerebral syndrome 1694 5 0.45647076903618483 C1853099 Cornelia de Lange Syndrome 3 1694 5 0.5005762363143055 C2750805 Chromosome 5p13 Duplication Syndrome 1694 5 0.25504553783696465 C0154748 Lesion of Sciatic Nerve 1685 5 0.8539797045288393 C0242013 Sciatic Neuritis 1685 5 0.8539797045288393 C0751924 Neuralgia-Neuritis, Sciatic Nerve 1685 5 0.8539797045288393 C0751925 Sciatic Nerve Palsy 1685 5 0.8539797045288393 C3809803 MICROPHTHALMIA, SYNDROMIC 12 1685 5 0.38920436977425665 C0010691 Cystinuria 1676 5 0.9598935348438771 C0268643 Cystinuria type 1 1676 5 0.9679689263949279 C1857388 Cystinuria, Type A 1676 5 0.9305531689135811 C1857389 Cystinuria, Type B 1676 5 0.9201215724687526 C1857390 Cystinuria, Type A-B 1676 5 0.9745055476398384 C1288283 Atrophoderma maculatum 1657 5 0.08431152027243953 C3281045 CONE-ROD DYSTROPHY 16 1657 5 0.7784678986723551 C3281046 RETINITIS PIGMENTOSA 64 1657 5 0.7833253612152383 C4049066 Retinal dystrophy with early macular involvement 1657 5 0.7663194196614513 C4319932 BARDET-BIEDL SYNDROME 21 1657 5 0.7833253612152383 C0024776 Maple Syrup Urine Disease 1649 5 0.907931651562374 C0268568 Classic Maple Syrup Urine Disease 1649 5 0.9207949251524711 C0268569 Intermittent Maple Syrup Urine Disease 1649 5 0.9207949251524711 C0751285 Maple Syrup Urine Disease, Thiamine Responsive 1649 5 0.9207492265223592 C1621920 Intermediate Maple Syrup Urine Disease 1649 5 0.9027326211047628 C0017919 Glycogen Storage Disease 1644 5 0.09357119064488169 C0017927 Glycogen Storage Disease Type VIII 1644 5 0.5475769958767295 C1844412 Liver Glycogenosis, X-Linked, Type II 1644 5 0.7599745654210066 C2748941 Glycogen Storage Disease, Type IXA2 1644 5 0.7599745654210066 C3694531 GLYCOGEN STORAGE DISEASE IXa1 1644 5 0.7599745654210066 C0029134 Optic Neuritis 1629 5 0.670851007154409 C0085582 Retrobulbar Neuritis 1629 5 0.6853346079299106 C0524679 Neuropapillitis 1629 5 0.6853346079299106 C3280266 NARCOLEPSY 7 1629 5 -0.2147329552818631 C4310800 SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 1629 5 0.6853346079299106 C3539010 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F 1594 5 1.0 C3542026 PEROXISOME BIOGENESIS DISORDER 5B 1594 5 1.0 C3553940 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) 1594 5 1.0 C3553941 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5 1594 5 1.0 C3553942 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10 1594 5 1.0 C0268465 Phenylketonuria II 1575 5 0.4285743314487444 C0751434 Classical phenylketonuria 1575 5 -0.06715292862855793 C0751435 Hyperphenylalaninaemia 1575 5 0.3722936123387365 C0751436 Hyperphenylalaninemia, Non-Phenylketonuric 1575 5 0.5206343467622616 C2678416 Hyperphenylalaninemia, Non-Pku Mild 1575 5 -0.6040835712210283 C0002170 Alopecia 1559 5 0.6232994225935022 C0086873 Pseudopelade 1559 5 0.8675663369458186 C0162311 Androgenetic Alopecia 1559 5 0.7376919596290353 C0263477 Female pattern alopecia (disorder) 1559 5 0.8672787683319733 C4083212 Alopecia, Male Pattern 1559 5 0.843882520910126 C0685838 Gonadal dysgenesis XX type deafness 1551 5 0.23712386085493734 C3554105 PERRAULT SYNDROME 2 1551 5 0.24707933299286597 C3808414 PERRAULT SYNDROME 3 1551 5 0.31581968578772746 C3809105 PERRAULT SYNDROME 4 1551 5 0.5180309817283943 C4310761 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1551 5 0.31372328962368096 C1836010 Spastic Paraplegia, Optic Atrophy, and Neuropathy 1501 5 0.06864574446665568 C1850386 GIANT AXONAL NEUROPATHY 1 1501 5 0.06875573939452188 C1858726 Congenital Cataracts, Facial Dysmorphism, And Neuropathy 1501 5 -0.02918154539702355 C3810230 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 1501 5 -0.04945486343765596 C4020811 Length dependent motor neuropathy 1501 5 0.4003814008500861 C0023501 Leukemoid Reaction 1493 5 0.5419678429417788 C0259743 Autosomal recessive SCID 1493 5 0.5419678429417788 C0451694 Severe combined immunodeficiency with low or normal B-cell numbers 1493 5 0.6248151313098189 C1833275 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 1493 5 0.5419678429417788 C3809383 IMMUNODEFICIENCY 8 1493 5 0.08153646319258152 C1306557 Chronic venous insufficiency 1490 5 0.4197229613425671 C1832174 DOYNE HONEYCOMB RETINAL DYSTROPHY 1490 5 0.798773507684412 C1852020 Malattia Leventinese 1490 5 0.7975088562661501 C1852021 Drusen, Radial, Autosomal Dominant 1490 5 0.7249682159573787 C4024769 Reticular pigmentary degeneration 1490 5 0.8097167702994019 C0796037 Martsolf syndrome 1435 5 0.24826104911836525 C1838625 Warburg Sjo Fledelius syndrome 1435 5 0.3068136079502932 C3280203 WARBURG MICRO SYNDROME 3 1435 5 -0.06258504762671371 C3280214 WARBURG MICRO SYNDROME 2 1435 5 0.23112283544863307 C3810265 WARBURG MICRO SYNDROME 4 1435 5 -0.06942722286925986 C0267809 Cirrhosis, Cryptogenic 1431 5 0.999597534729279 C0268074 Indian childhood cirrhosis 1431 5 0.9987025882321154 C1859088 COPPER TOXICOSIS, IDIOPATHIC 1431 5 0.9996601104552232 C1861556 Cirrhosis, Familial 1431 5 0.9996601104552232 C1876166 Endemic Tyrolean Infantile Cirrhosis 1431 5 0.9996601104552232 C0009451 Communicating Hydrocephalus 1423 5 0.8396907037589559 C0270720 Hydrocephalus Ex-Vacuo 1423 5 0.9282510595005322 C0477432 Post-Traumatic Hydrocephalus 1423 5 0.9282510595005322 C0549423 Obstructive Hydrocephalus 1423 5 0.8902721931853674 C2936786 Aqueductal Stenosis 1423 5 0.875456687988016 C0155760 Rupture of artery 1420 5 0.6702383025982454 C0268342 Ehlers-Danlos syndrome type 6 1420 5 0.6160724138576151 C2676285 Bone Fragility with Contractures, Arterial Rupture, and Deafness 1420 5 0.11888888322050911 C2936777 Nevo syndrome (disorder) 1420 5 0.6160724138576151 C4023719 Spontaneous rupture of the globe 1420 5 0.6160724138576151 C0013384 Dyskinetic syndrome 1418 5 0.7258266757437264 C0152115 Lingual-Facial-Buccal Dyskinesia 1418 5 0.8372601305365842 C0221169 Hemiballismus 1418 5 0.8988442563550952 C0454606 Oral Dyskinesia 1418 5 0.8988442563550952 C0752196 Ballismus 1418 5 0.8988442563550952 C0007273 Carotid Artery Diseases 1403 5 0.938520421550038 C0577631 Carotid Atherosclerosis 1403 5 0.9597789293436547 C0600178 External Carotid Artery Diseases 1403 5 0.9792183496005102 C0750986 Internal Carotid Artery Diseases 1403 5 0.9792183496005102 C0750987 Arterial Diseases, Common Carotid 1403 5 0.9792183496005102 C0017097 Gardner Syndrome 1395 5 0.9840155668779552 C1851124 Desmoid disease, hereditary 1395 5 0.9845930065586075 C2673218 BRAIN TUMOR-POLYPOSIS SYNDROME 2 (disorder) 1395 5 0.9845930065586075 C2674616 FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) 1395 5 0.9347118856385916 C2675440 Desmoid Tumor Caused By Somatic Mutation 1395 5 0.9845930065586075 C1306229 Dyschromatosis universalis 1386 5 0.9205461551351056 C1836705 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 1386 5 0.9205461551351056 C2930995 Dyschromatosis universalis hereditaria 1386 5 0.689912666870992 C3281027 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 1386 5 0.9205461551351056 C3809394 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 1386 5 0.9205461551351056 C1859534 Bare Lymphocyte Syndrome, Type II, Complementation Group A 1370 5 0.8243810647433862 C1859535 Bare Lymphocyte Syndrome, Type II, Complementation Group B 1370 5 0.8315718373433407 C1859536 Bare Lymphocyte Syndrome, Type II, Complementation Group C 1370 5 0.9107055150077671 C1859537 Bare Lymphocyte Syndrome, Type II, Complementation Group D 1370 5 0.5460564194605206 C1859538 Bare Lymphocyte Syndrome, Type II, Complementation Group E 1370 5 0.8338396664022988 C0085293 Hepatitis E 1360 5 0.32903898421665645 C0276609 Acute type B viral hepatitis 1360 5 0.6354784963878342 C0520788 Posttransfusion viral hepatitis 1360 5 0.49133120035388833 C0814152 Viral hepatitis, type G 1360 5 0.266753976030262 C3839044 Compensated liver disease 1360 5 0.4712488114866798 C0152457 Kayser-Fleischer ring 1358 5 0.33703077800327974 C0267797 Acute hepatitis 1358 5 0.41180878040266894 C0268540 HHH syndrome 1358 5 0.0452162851653521 C1848456 Atypical or prolonged hepatitis 1358 5 0.4261864154025783 C4024907 Mixed demyelinating and axonal polyneuropathy 1358 5 0.4261864154025783 C0038165 Staphylococcal Scalded Skin Syndrome 1340 5 0.8507218706689105 C0263314 Pemphigus and fogo selvagem 1340 5 0.7865291513006659 C2931122 Keratosis palmoplantaris striata 1 1340 5 0.8507218706689105 C3809719 ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE 1340 5 0.704759334739796 C4021575 Diffuse palmoplantar hyperkeratosis 1340 5 0.6073713585241042 C0751508 Long Sleeper Syndrome 1335 5 0.9860904291900024 C0751509 Short Sleeper Syndrome 1335 5 0.970099237328436 C0751510 Sleep-Related Neurogenic Tachypnea 1335 5 0.9860904291900024 C0751511 Subwakefullness Syndrome 1335 5 0.9860904291900024 C0851578 Sleep Disorders 1335 5 0.9622116779491737 C0025221 Meleda Disease 1205 5 0.8852402709319644 C1855644 Keratoderma, Palmoplantar, Norrbotten Recessive Type 1205 5 0.9758777861766843 C2910342 Inherited keratosis palmaris et plantaris 1205 5 0.9758777861766843 C2910343 Keratosis follicularis [Darier-White] 1205 5 0.9758777861766843 C4024891 Hyperkeratosis with erythema 1205 5 0.9758777861766843 C0342549 Familial Testotoxicosis 1189 5 0.7986635229057605 C1504412 Testotoxicosis 1189 5 0.9446853246923097 C2673497 Leydig Cell Hypoplasia, Type II 1189 5 0.9446853246923097 C3668935 Luteinizing Hormone Resistance, Female 1189 5 0.9446853246923097 C3714042 46,XY Disorder of Sex Development Due To LH Defects 1189 5 0.9446853246923097 C0001623 Adrenal gland hypofunction 1181 5 -0.13489356862675858 C2751824 46, XY Disorders of Sex Development 1181 5 0.49819537905360706 C2751825 PREMATURE OVARIAN FAILURE 7 (disorder) 1181 5 0.6890546489703558 C3151406 SPERMATOGENIC FAILURE 8 1181 5 0.6890546489703558 C4479664 ADRENAL INSUFFICIENCY, NR5A1-RELATED 1181 5 0.6890546489703558 C0393953 Anterior Cerebral Circulation Infarction 1161 5 0.837840459352624 C0751952 Anterior Circulation Brain Infarction 1161 5 0.837840459352624 C0751953 Brain Infarction, Posterior Circulation 1161 5 0.837840459352624 C0751954 Venous Infarction, Brain 1161 5 0.837840459352624 C0751955 Brain Infarction 1161 5 0.49721082359335383 C0027121 Myositis 1129 5 0.7716076278102184 C0158353 Myositis, Infectious 1129 5 0.9258549207337149 C0544796 Myositis, Proliferative 1129 5 0.9258549207337149 C0751356 Idiopathic Inflammatory Myopathies 1129 5 0.9176988645439035 C0751357 Myositis, Focal 1129 5 0.9258549207337149 C1839928 IRIS HYPOPLASIA WITH GLAUCOMA 1128 5 0.961006916034191 C1866560 IRIDOGONIODYSGENESIS, TYPE 1 (disorder) 1128 5 0.961006916034191 C1866561 Glaucoma Iridogoniodysplasia, Familial 1128 5 0.961006916034191 C2678503 AXENFELD-RIEGER SYNDROME, TYPE 3 1128 5 0.8588045621868305 C3887633 Dandy-Walker Syndrome, Familial 1128 5 0.961006916034191 C0264694 Chronic myocardial ischemia 1118 5 0.0008821836519978632 C0795905 Cantu syndrome 1118 5 0.6824544119503484 C0796280 Acromegaloid facial appearance syndrome 1118 5 0.7584832467371466 C1837839 CARDIOMYOPATHY, DILATED, 1O 1118 5 0.7584832467371466 C3279695 ATRIAL FIBRILLATION, FAMILIAL, 12 1118 5 0.7584832467371466 C1861305 TARSAL-CARPAL COALITION SYNDROME 1108 5 0.8455958149807696 C1861306 Synostosis of Talus and Calcaneus with Short Stature 1108 5 0.9539326140162592 C1866656 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 1108 5 0.9539326140162592 C1969652 BRACHYDACTYLY, TYPE B2 (disorder) 1108 5 0.9539326140162592 C3714899 SYMPHALANGISM, PROXIMAL, 1A 1108 5 0.933751820815308 C1842382 Epilepsy, Benign Neonatal, 3 1036 5 0.8967851343553571 C1843140 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 1036 5 0.5193856339426749 C3150987 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 1036 5 0.7853360683812317 C4023515 Dialeptic seizures 1036 5 0.8967851343553571 C4049830 Focal seizures, afebril 1036 5 0.8967851343553571 C0393693 Benign Neonatal Epilepsy, Nonfamilial 1035 5 1.0 C1852587 EPILEPSY, BENIGN NEONATAL, 1 1035 5 1.0 C2751195 Epilepsy, Benign Neonatal, 1, And-Or Myokymia 1035 5 1.0 C3149074 SEIZURES, BENIGN FAMILIAL NEONATAL, 1 1035 5 1.0 C3149075 SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA 1035 5 1.0 C0152216 Esophoria 1016 5 1.0 C1836929 Emanuel syndrome 1016 5 1.0 C1861129 Takao VCF Syndrome 1016 5 1.0 C2675369 Chromosome 22q11.2 Microduplication Syndrome 1016 5 1.0 C3150966 Supernumerary der(22)t(8;22) syndrome 1016 5 1.0 C0079136 Cockayne-Touraine Disease 1010 5 0.7322344222896144 C0079294 Epidermolysis Bullosa Dystrophica 1010 5 0.9031338872923486 C0079474 Hallopeau-Siemens Disease 1010 5 0.913570948938204 C2673611 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 1010 5 0.8710299858542615 C2673612 Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 1010 5 0.8710299858542615 C0004943 Behcet Syndrome 1002 5 0.3974089669598293 C0029191 Orchitis 1002 5 0.22429933198955482 C0038363 Aphthous Stomatitis 1002 5 0.5433803540372258 C0149745 Oral Ulcer 1002 5 -0.02283327277077203 C2937365 Recurrent aphthous ulcer 1002 5 0.4990763120615616 C0268344 Ehlers-Danlos syndrome 6B 974 5 0.12789306770801656 C1096274 Corneal thinning 974 5 0.6577658267875326 C1852557 CORNEA PLANA 1 974 5 0.6681036920231391 C1857574 CORNEA PLANA 2 974 5 0.6681036920231391 C2748502 CORNEAL DYSTROPHY, POSTERIOR AMORPHOUS 974 5 0.6681036920231391 C0043194 Wiskott-Aldrich Syndrome 967 5 0.7437488032996528 C0578878 Inflammation of large intestine 967 5 0.430353091510817 C1839163 THROMBOCYTOPENIA 1 (disorder) 967 5 0.8054430976780294 C1839164 Thrombocytopenia, X-Linked, Intermittent 967 5 0.7979067892266187 C1845987 Neutropenia, Severe Congenital, X-Linked 967 5 0.72608494628861 C0015456 Facial Dermatoses 941 5 1.0 C0015704 Favre-Racouchot Syndrome 941 5 1.0 C0343097 Nodular Elastoidosis 941 5 1.0 C3151189 C9 Deficiency 941 5 1.0 C3810042 MACULAR DEGENERATION, AGE-RELATED, 15 941 5 1.0 C0149841 Benign recurrent intrahepatic cholestasis 930 5 -0.21421721799221513 C0268312 Progressive intrahepatic cholestasis (disorder) 930 5 0.19100678841023794 C0268318 Cholestasis of pregnancy 930 5 0.5675944287973125 C0742395 Cholestasis, chronic 930 5 0.046384677680306186 C3489728 Familial intrahepatic cholestasis of pregnancy 930 5 0.5343314475850656 C1862839 Anterior segment mesenchymal dysgenesis 917 5 0.6038038974017329 C1864567 CATARACT, POSTERIOR POLAR, 4 (disorder) 917 5 0.9202954405633545 C1970386 Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities 917 5 0.9202954405633545 C3808029 CATARACT 11 WITH MICROPHTHALMIA AND NEURODEVELOPMENTAL ABNORMALITIES 917 5 0.9202954405633545 C4305131 Cataract glaucoma syndrome 917 5 0.9202954405633545 C0005129 Bernard-Soulier Syndrome 900 5 0.9637599891533624 C1856447 Bernard-Soulier Syndrome, Type B 900 5 0.9580461183084688 C1856448 Bernard-Soulier Syndrome, Type C 900 5 0.9522352474823209 C2713537 Deficiency of Platelet Glycoprotein 1b 900 5 0.9783915068927658 C3278148 BERNARD-SOULIER SYNDROME, TYPE A1 900 5 0.935479939014467 C0270733 Striatonigral Degeneration 886 5 0.63782679517134 C0393911 Pure Autonomic Failure 886 5 0.6358882719830289 C1843920 COENZYME Q10 DEFICIENCY 886 5 0.6931402963068859 C2677589 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 886 5 -0.15877879366646372 C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 886 5 0.596994348389225 C0238590 Acrogeria 836 5 0.917843561336474 C0268337 Ehlers-Danlos syndrome, type 3 (disorder) 836 5 0.5380594680060918 C0268338 Ehlers-Danlos Syndrome, Type IV 836 5 0.8376654568259521 C0406584 Acrogeria, gottron type 836 5 0.917843561336474 C1853365 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 836 5 0.917843561336474 C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 832 5 0.8459986562511765 C1858154 CARDIOMYOPATHY, DILATED, 1I 832 5 0.8344094586458832 C1867005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 832 5 0.8344094586458832 C2678065 Myofibrillar Myopathy 832 5 0.03739902764278757 C3809137 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R 832 5 0.8344094586458832 C0085623 Akinesia 821 5 0.12382033685444625 C1276035 Pena-Shokeir syndrome type I 821 5 0.3970540515786081 C1837092 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 821 5 -0.025886258924263023 C4225367 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 821 5 0.18646269144342278 C4225368 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 821 5 -0.13461018234663405 C1836694 Striatal Degeneration, Autosomal Dominant 820 5 1.0 C3280094 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 820 5 1.0 C4022417 Degeneration of the striatum 820 5 1.0 C4024947 Symmetric lesions of the basal ganglia 820 5 1.0 C4310808 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1 820 5 1.0 C1449718 Endocrine Breast Diseases 816 5 1.0 C1785148 RAPP-HODGKIN SYNDROME 816 5 1.0 C1851878 OROFACIAL CLEFT 8 816 5 1.0 C1851879 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 816 5 1.0 C1858562 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 816 5 1.0 C0039240 Supraventricular tachycardia 788 5 0.7970436908833612 C0264906 Second degree atrioventricular block 788 5 0.955702896673057 C3554018 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 788 5 0.955702896673057 C3809609 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 788 5 0.955702896673057 C4023501 Focal myoclonic seizures 788 5 0.955702896673057 C0008525 Choroideremia 784 5 0.005265973717552532 C0344297 Choroidal sclerosis 784 5 0.5706909950367378 C1536451 Central areolar choroidal sclerosis 784 5 0.08872272413980947 C1866293 Retinal cone dystrophy 2 784 5 0.4651974492645146 C2931258 Amaurosis congenita of Leber, type 1 784 5 0.32651852497600636 C1832916 Timothy syndrome 771 5 0.9987226963078668 C1955768 Potassium sensitive periodic paralysis 771 5 0.999680409462536 C2678478 Brugada Syndrome 3 771 5 0.999680409462536 C2875318 Myotonic periodic paralysis (familial) 771 5 0.999680409462536 C2875319 Normokalemic paralysis (familial) 771 5 0.999680409462536 C0152025 Polyneuropathy 752 5 0.3786746003358966 C0271683 Polyneuropathy, Motor 752 5 0.6097223738829489 C0393851 Polyneuropathy, Critical Illness 752 5 0.6954672334595603 C0751448 Polyneuropathy, Familial 752 5 0.7015166355769995 C0751449 Acquired Polyneuropathy 752 5 0.6954672334595603 C0006112 Brain Diseases, Metabolic 718 5 0.999999999999999 C0750968 Central Nervous System Metabolic Disorders 718 5 0.999999999999999 C0751743 Metabolic Disorder, Central Nervous System, Acquired 718 5 0.999999999999999 C0751744 Brain Diseases, Metabolic, Acquired 718 5 0.999999999999999 C1135773 Acquired Metabolic Diseases, Nervous System 718 5 0.999999999999999 C0342790 Carnitine palmitoyl transferase 2 deficiency 717 5 1.0 C1833508 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 717 5 1.0 C1833511 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE 717 5 1.0 C1833518 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 717 5 1.0 C1837273 Long-chain dicarboxylic aciduria 717 5 1.0 C0018022 Endemic goiter 678 5 0.622590013900868 C0302859 Euthyroid Goiter 678 5 0.8190903156047202 C0342208 Multinodular goiter 678 5 0.6026990144130777 C1846034 Euthyroid multinodular goiter 678 5 0.8674578999222015 C4053514 Nasal Chondromesenchymal Hamartoma 678 5 0.8674578999222015 C0151861 Porphyruria 677 5 0.9634850647942104 C0162532 Variegate Porphyria 677 5 0.9623990137227103 C0342860 Homozygous variegate porphyria 677 5 0.9634850647942104 C2936913 Porphyria, South African type 677 5 0.7202083516845885 C3149848 VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT 677 5 0.9634850647942104 C0272315 Coagulation factor deficiency syndrome 639 5 0.4016372355927287 C0272323 Moderate hereditary factor VIII deficiency disease 639 5 0.6706288898742829 C0472801 Hemophilia A carrier 639 5 0.7816274237700827 C1096116 Acquired haemophilia 639 5 0.8585073024109673 C2873785 Deficiency of factor V [labile] 639 5 0.8585073024109673 C0151281 Genital ulcers 626 5 1.0 C1865370 Severe combined immunodeficiency with sensitivity to ionizing radiation 626 5 1.0 C1865371 SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE 626 5 1.0 C1865372 Athabaskan severe combined immunodeficiency 626 5 1.0 C1865373 SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL 626 5 1.0 C0024904 Mastoiditis 625 5 0.5397767986895767 C0477324 Other combined immunodeficiencies 625 5 0.5070714535312029 C1832322 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 625 5 0.7021714179644835 C2673536 Combined Cellular And Humoral Immune Defects With Granulomas 625 5 0.6862667366504737 C2931884 Reticuloendotheliosis, familial, with eosinophilia 625 5 0.5123414584424772 C0023003 Langer-Giedion Syndrome 619 5 0.6029616457186685 C0265255 Trichorhinophalangeal syndrome 619 5 0.8493397346442323 C0432233 Trichorhinophalangeal dysplasia type I 619 5 0.9269340348085162 C1860823 Trichorhinophalangeal Syndrome, Type III 619 5 0.9269340348085162 C1860826 Coxa Magna 619 5 0.9269340348085162 C0151940 Hypocalcemic tetany 615 5 0.356739614067792 C0265291 Kenny-Caffey syndrome 615 5 0.8215417071071002 C1865639 Gracile bone dysplasia 615 5 0.7683247796548692 C4022179 Stenosis of the medullary cavity of the long bones 615 5 0.47691330616982575 C4316787 Kenny-Caffey syndrome, type 2 615 5 0.8337957501875747 C0021099 Impetigo 596 5 0.7394560861547314 C0031350 Pharyngitis 596 5 0.8016372804806775 C0036285 Scarlet Fever 596 5 0.7394560861547314 C0036689 Streptococcal sore throat 596 5 0.4528640899527099 C0238124 Necrotizing fasciitis 596 5 0.7802395874046979 C0268285 Adrenal hyperplasia, congenital, type 5 594 5 0.8345837062826842 C1291314 Deficiency of monooxygenase 594 5 0.638464011983188 C1291557 Deficiency of lyase 594 5 0.8755887536869028 C3277849 17,20-Lyase Deficiency, Isolated 594 5 0.9026646512032017 C4329212 17-Alpha-Hydroxylase/17,20 Lyase Deficiency 594 5 0.8972134193349166 C0043325 Xanthomatosis 584 5 -0.28826065805726636 C0155210 Eyelid Xanthoma 584 5 0.3674240844513875 C0221253 Xanthoma tendinosum 584 5 -0.06169454922314334 C0302314 Xanthoma 584 5 0.23136353835168352 C4280602 Xanthelasma of periocular region 584 5 0.38020978048416476 C0004608 Retinopathy background 579 5 0.5498824121417797 C0035344 Retinopathy of Prematurity 579 5 0.3892944291981859 C0423361 Posterior Vitreous Detachment 579 5 0.2491610862225742 C1851402 Exudative vitreoretinopathy 1 579 5 0.6270248823087708 C4072980 Exudative vitreoretinopathy 579 5 0.6501299474582313 C0155016 Color Blindness, Red-Green 569 5 -0.12681566353867835 C0339537 Cone monochromatism 569 5 0.46880066590109065 C2931753 Achromatopsia incomplete, X-linked 569 5 0.46880066590109054 C3887937 CONE DYSTROPHY 5, X-LINKED 569 5 0.6526334772650098 C3887938 COLORBLINDNESS, PARTIAL, DEUTAN SERIES 569 5 0.6411923191078364 C0024586 Malignant Carcinoid Syndrome 542 5 1.0 C0342777 Succinate-coenzyme Q reductase deficiency 542 5 1.0 C1868633 Paragangliomas with Sensorineural Hearing Loss 542 5 1.0 C3532243 Fatal infantile mitochondrial cardiomyopathy 542 5 1.0 C3554516 COWDEN SYNDROME 3 542 5 1.0 C0079584 Ichthyosis Vulgaris 529 5 0.7226051605141587 C0239816 Hand eczema 529 5 0.8374027201381419 C1304345 Occupational irritant contact dermatitis 529 5 0.8520279601616959 C1853965 Dermatitis, Atopic, 2 529 5 0.8520279601616959 C3662483 Allergic sensitization 529 5 0.36999745758899866 C0857069 Chronic candidiasis 526 5 1.0 C1535942 Polyglandular Type III Autoimmune Syndrome 526 5 1.0 C1855868 Polyglandular Deficiency Syndrome, Persian-Jewish Type 526 5 1.0 C1855869 Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant 526 5 1.0 C2749602 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 526 5 1.0 C0025237 Melnick-Needles Syndrome 520 5 0.6573075373942258 C0029422 Osteochondrodysplasias 520 5 0.6161965497015768 C0036391 Schwartz-Jampel Syndrome 520 5 0.4348268719618732 C0038015 Spondyloepiphyseal Dysplasia 520 5 0.7185519019790299 C0432272 Van Buchem disease 520 5 0.6125038424618423 C0265221 Walker-Warburg congenital muscular dystrophy 511 5 0.8537533389841776 C0410174 Fukuyama Type Congenital Muscular Dystrophy 511 5 0.608916737145252 C0457133 Muscle eye brain disease 511 5 0.8659301971816264 C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 511 5 0.8400445147776083 C2936406 alpha-Dystroglycanopathies 511 5 0.8752372620671574 C0265334 Pachyonychia Congenita 505 5 0.5066577279157924 C1706595 Pachyonychia Congenita, Jadassohn Lewandowsky Type 505 5 0.5959948543178978 C1721007 Pachyonychia Congenita, Type 2 (disorder) 505 5 0.6437492736140644 C2931923 Hyperkeratosis of the palms and soles and esophageal papillomas 505 5 0.23935724829571572 C3671377 Sebocystomatosis 505 5 0.2608697347571866 C0220695 Neurofibromatosis, type 4, of Riccardi 499 5 0.6451346432361986 C0553586 Cafe-au-lait macules with pulmonary stenosis 499 5 0.7591718276163568 C1834235 NEUROFIBROMATOSIS, FAMILIAL SPINAL 499 5 0.8553011669841458 C2931482 Neurofibromatosis-Noonan syndrome 499 5 0.8438955244621819 C3150928 NF1 Microdeletion Syndrome 499 5 0.8553011669841458 C0019295 Inguinal Hernia, Direct 496 5 1.0 C0019296 Inguinal Hernia, Indirect 496 5 1.0 C2674574 Aortic aneurysm, familial thoracic 3 496 5 1.0 C2674876 LOEYS-DIETZ SYNDROME, TYPE 1B 496 5 1.0 C2931058 Marfan Syndrome type 2 496 5 1.0 C0023786 Mucopolysaccharidosis I 493 5 0.965237449560845 C0026708 Mucopolysaccharidosis V 493 5 0.9654838323509379 C0086431 Hurler-Scheie Syndrome 493 5 0.9655523308667896 C0086795 Pfaundler-Hurler Syndrome 493 5 0.8563878988778794 C2713321 alpha-L-Iduronidase Deficiency 493 5 0.9582849741664277 C0272236 Hyperimmunoglobulin M syndrome 486 5 0.6684486172681899 C0333997 Lymphoid hyperplasia 486 5 0.4251036218063374 C1720956 Hyper-IgM Immunodeficiency Syndrome, Type 2 486 5 0.7661506134908216 C1720957 Hyper-IgM Immunodeficiency Syndrome, Type 3 486 5 0.641856639431758 C1720958 Hyper-IgM Immunodeficiency Syndrome, Type 5 486 5 0.6446390072270244 C0281967 Retinal infarction 471 5 0.9949322243477006 C1846837 Aortic Aneurysm, Familial Thoracic 2 471 5 0.9949322243477006 C2673186 Aortic Aneurysm, Familial Thoracic 6 471 5 0.9798631102931447 C3151201 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 471 5 0.9949322243477006 C3279690 MOYAMOYA DISEASE 5 471 5 0.9949322243477006 C0012819 Diverticular disease of colon 459 5 0.3302093137892965 C0149754 Cellulitis of periorbital region 459 5 0.3207606961331051 C0175702 Williams Syndrome 459 5 0.4229074028567417 C0345030 Peripheral pulmonary artery stenosis 459 5 0.3365089000494293 C4025788 Nystagmus-induced head nodding 459 5 0.4324756212869811 C0021933 Intussusception 442 5 0.1303982126527871 C0031269 Peutz-Jeghers Syndrome 442 5 0.7602155308122964 C0282207 Cronkhite-Canada Syndrome 442 5 0.7870149386653003 C1257915 Intestinal Polyposis 442 5 0.6674374394348682 C1333088 Colonic hamartomatous polyps 442 5 0.7870149386653003 C0085435 Arthritis, Reactive 421 5 0.23011315671652383 C0175708 Chronic rheumatic heart disease 421 5 0.7649934920516644 C0543698 Hypersensitive syndrome 421 5 0.6531657451922412 C2363973 Chronic thromboembolic pulmonary hypertension 421 5 0.7649934920516644 C3697982 Pulmonary arterial hypertension associated with connective tissue disease 421 5 0.7649934920516644 C0009021 Clonorchiasis 404 5 0.9069913849348212 C1328840 Autoimmune Lymphoproliferative Syndrome 404 5 0.6372823118916188 C1866119 Autoimmune Lymphoproliferative Syndrome, Type IA 404 5 0.8203834261966991 C1866120 Autoimmune Lymphoproliferative Syndrome, Type IB 404 5 0.8998457705614077 C1866121 Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive 404 5 0.9118170574071562 C1836727 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 397 5 0.803711584190723 C1866425 Yemenite deaf-blind hypopigmentation syndrome 397 5 0.8163790814376333 C2700265 Waardenburg Syndrome Type 2 397 5 0.038494415989644315 C2700405 WAARDENBURG SYNDROME, TYPE IIE 397 5 0.7457627395862221 C2750452 Waardenburg Syndrome, Type 4c 397 5 0.8201776343230832 C1504404 Hippocampal sclerosis 377 5 0.08852767818615044 C1843792 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 377 5 0.8306678640757466 C3539123 CEROID LIPOFUSCINOSIS, NEURONAL, 11 377 5 0.8127624006985731 C4022574 Limb apraxia 377 5 0.8127624006985731 C4275079 Posterior cortical atrophy syndrome 377 5 0.8127624006985731 C0270951 Ocular muscular dystrophy 375 5 0.9975255625889035 C2875311 Autosomal recessive, childhood type, muscular dystrophy resembling Duchenne or Becker muscular dystrophy 375 5 0.9975255625889035 C2875312 Benign scapuloperoneal muscular dystrophy with early contractures [Emery-Dreifuss] 375 5 0.9975255625889035 C2875313 Severe [Duchenne] muscular dystrophy 375 5 0.9897582487876501 C3264046 Congenital muscular dystrophy with specific morphological abnormalities of the muscle fiber 375 5 0.9975255625889035 C0002875 Cooley\'s anemia 368 5 0.8828102936269085 C0005283 beta Thalassemia 368 5 0.839970327130204 C0019025 Hemoglobin F Disease 368 5 0.7549391805570667 C0085578 Thalassemia Minor 368 5 0.8928449628993987 C0271979 Thalassemia Intermedia 368 5 0.8946090624648249 C0013575 Ectodermal Dysplasia 350 5 0.31489489146451083 C0162361 Hidrotic Ectodermal Dysplasia 350 5 0.6903902580596716 C2675235 Deafness, Autosomal Recessive 1b 350 5 0.6684020847974365 C2675237 Deafness, Autosomal Dominant 3B 350 5 0.6684020847974365 C4021534 Adult onset sensorineural hearing impairment 350 5 0.6684020847974365 C1843013 Alzheimer disease, familial, type 3 344 5 0.9985003284278706 C1843014 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 344 5 0.9996247206634815 C1843015 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 344 5 0.9996247206634815 C3151038 ACNE INVERSA, FAMILIAL, 3 344 5 0.9996247206634815 C3160720 Cardiomyopathy, Dilated, 1u 344 5 0.9996247206634815 C0795927 Deafness, congenital onychodystrophy, recessive form 327 5 0.9411293476366208 C0795934 Digitorenocerebral Syndrome 327 5 0.9411293476366208 C2829265 DEAFNESS, AUTOSOMAL RECESSIVE 86 327 5 0.9411293476366208 C3809173 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 327 5 0.6826169017122271 C3892048 DEAFNESS, AUTOSOMAL DOMINANT 65 327 5 0.9411293476366208 C0023600 Leydig cell hyperplasia 308 5 0.9936041361873322 C0043019 Lateral Medullary Syndrome 308 5 0.9936041361873322 C0342386 Follicle stimulating hormone deficiency 308 5 0.9936041361873322 C0403824 Teratozoospermia 308 5 0.9753882553379186 C1856716 Follicle-stimulating hormone deficiency, isolated 308 5 0.9927611091750643 C0394004 Congenital non-progressive ataxia 285 5 0.9487477937836131 C0431401 Gillespie syndrome 285 5 0.5844157068506963 C1847725 SPINOCEREBELLAR ATAXIA 15 285 5 0.9487477937836131 C1861732 SPINOCEREBELLAR ATAXIA 29 285 5 0.9484624898457585 C4274987 Spinocerebellar ataxia type 29 285 5 0.9487477937836131 C0221405 Pituitary cachexia 283 5 0.9999999999999991 C0271577 Isolated gonadotropin deficiency 283 5 0.9999999999999991 C0342381 Idiopathic growth hormone deficiency 283 5 0.9999999999999991 C2874188 Isolated deficiency of pituitary hormone 283 5 0.9999999999999991 C2874190 Pituitary short stature 283 5 0.9999999999999991 C0079102 Cerebral Thrombosis 214 5 0.9997142145682152 C0752143 Intracranial Thrombosis 214 5 0.9999305831622785 C0752144 Brain Thrombosis 214 5 0.9999305831622785 C0936261 Brain Thrombus 214 5 0.9999305831622785 C0936263 Cerebral Thrombus 214 5 0.9999305831622785 C0008058 Chilblains 206 5 1.0 C0275544 Congenital infectious disease 206 5 1.0 C0477365 Other specified degenerative diseases of nervous system 206 5 1.0 C1860518 Vasculopathy, Retinal, With Cerebral Leukodystrophy 206 5 1.0 C3150315 AICARDI-GOUTIERES SYNDROME 1, AUTOSOMAL DOMINANT 206 5 1.0 C0342731 Deficiency of mevalonate kinase 203 5 0.9936375863286852 C0398691 Hyperimmunoglobulinemia D 203 5 0.9949891603140953 C1835875 Normocytic hypoplastic anemia 203 5 0.997303787706911 C1867981 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 203 5 0.997303787706911 C1959626 Mevalonic Aciduria 203 5 0.997303787706911 C0022595 Keratosis Follicularis 174 5 0.993553555124405 C0265971 Acrokeratosis Verruciformis of Hopf 174 5 0.9983831783696103 C0341047 Hypertrophy of parotid gland 174 5 0.9983831783696103 C1852296 Darier Disease, Acral Hemorrhagic Type 174 5 0.9983831783696103 C1852297 Darier Disease, Segmental 174 5 0.9983831783696103 C0002016 Aleutian Mink Disease 133 5 0.4769824940576306 C0221028 Neonatal thrombocytopenia (disorder) 133 5 0.8635815007906218 C0598221 Hereditary protein C deficiency 133 5 0.8635815007906218 C2585959 Homozygous protein C deficiency 133 5 0.8635815007906218 C2585960 Heterozygous protein C deficiency 133 5 0.8635815007906218 C0014733 Erysipelas 120 5 0.0994620986398351 C0024215 Lymphangiectasis, Intestinal 120 5 0.7817917811240498 C0340834 Hennekam lymphangiectasia lymphedema syndrome 120 5 0.46773680018254765 C0455990 Immune Hydrops Fetalis 120 5 0.7817917811240498 C4012050 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 120 5 0.7817917811240498 C0035091 Renal Tubular Transport, Inborn Errors 99 5 0.9937074676075695 C0403720 X-linked recessive nephrolithiasis with renal failure 99 5 0.9937074676075695 C0878681 Dent\'s disease 99 5 0.9769875755651893 C1839874 Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 99 5 0.9937074676075695 C1848336 Dent disease 1 99 5 0.9949918590282251 C0030360 Papillon-Lefevre Disease 96 5 0.9771482722452537 C0031106 Periodontitis, Juvenile 96 5 0.9124733506672643 C0600298 Periodontosis 96 5 0.9774677082030622 C1855627 HAIM-MUNK SYNDROME 96 5 0.9774677082030622 C2713394 Haim-Monk Syndrome 96 5 0.9774677082030622 C0003869 Arthritis, Infectious 70 5 0.688175972360719 C0003875 Arthritis, Viral 70 5 0.8890464424428296 C0008149 Chlamydia Infections 70 5 0.8683273843075353 C1692886 Arthritis, Bacterial 70 5 0.8902164566582074 C3891815 Arthritis, Suppurative 70 5 0.8902164566582074 C0155616 Secondary hypertension 49 5 0.8223626374010304 C0264638 Low-renin essential hypertension 49 5 0.8223626374010304 C0264641 Endocrine hypertension 49 5 0.8223626374010304 C2751310 Hyperuricemic Nephropathy, Familial Juvenile 2 49 5 0.8762622190126368 C4511620 Autosomal dominant tubulointerstitial kidney disease 49 5 0.1442801985459706 C0730278 Severe nonproliferative diabetic retinopathy 43 5 0.9843506110917806 C1851585 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA 43 5 0.9390198181363156 C1866182 Penttinen-Aula syndrome 43 5 0.9843506110917806 C3554321 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 43 5 0.9843506110917806 C4225270 KOSAKI OVERGROWTH SYNDROME 43 5 0.9843506110917806 C0751587 CADASIL Syndrome 41 5 0.407842869205122 C1851710 LATERAL MENINGOCELE SYNDROME 41 5 0.8502540189870414 C1852242 Nonarteritic anterior ischemic optic neuropathy (NAION) 41 5 0.8646401604930963 C3809084 MYOFIBROMATOSIS, INFANTILE, 2 41 5 0.6805108954220694 C4024935 Subcortical dementia 41 5 0.8646401604930963 C2584611 Hereditary protein S deficiency 35 5 1.0 C3278211 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 35 5 1.0 C3281092 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 35 5 1.0 C3502051 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive 35 5 1.0 C3502052 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant 35 5 1.0 C0014122 Subacute Bacterial Endocarditis 33 5 0.8012263816728282 C0027013 Myeloid Metaplasia 33 5 0.6234898378908553 C0242006 Myelofibrosis due to another disorder 33 5 0.8012263816728282 C3281125 THROMBOCYTHEMIA 3 33 5 0.8012263816728282 C4022560 Splanchnic vein thrombosis 33 5 0.6234898378908553 C0034152 Henoch-Schoenlein Purpura 25 5 0.5458887812549625 C0042386 Vasculitis, Hemorrhagic 25 5 0.8327755763129872 C0086922 Rheumatoid Purpura 25 5 0.8327755763129872 C0242461 Purpura, Nonthrombocytopenic 25 5 0.8327755763129872 C0376362 Purpura Hemorrhagica 25 5 0.8327755763129872 C0020640 Inherited Factor II deficiency 18 5 0.7699619278263389 C0162819 Skin Diseases, Vascular 18 5 0.5705360108686118 C0272317 Hereditary factor II deficiency disease 18 5 0.8268104579573398 C0338573 Cerebral venous sinus thrombosis 18 5 0.8268104579573398 C3203356 Factor II deficiency 18 5 0.8268104579573398 C1412000 Mesenteric vascular insufficiency 16 5 0.999537573391301 C3852984 Acute Mesenteric Arterial Embolus 16 5 0.99988006055582 C3852985 Occlusive Mesenteric Arterial Ischemia 16 5 0.99988006055582 C3852986 Nonocclusive Mesenteric Ischemia 16 5 0.99988006055582 C3852987 Acute Mesenteric Arterial Thrombosis 16 5 0.99988006055582 C0268123 Muscle AMP deaminase deficiency 2139 4 0.7930888377878672 C2752073 Erythrocyte Amp Deaminase Deficiency 2139 4 0.3622257838172026 C2931781 Adenosine monophosphate deaminase deficiency 2139 4 0.7860262969000834 C3714933 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY 2139 4 0.549760968191284 C0162677 Caliciviridae Infections 2117 4 1.0 C0206044 Infections, Calicivirus 2117 4 1.0 C2712971 Enteritis due to Norovirus 2117 4 1.0 C3534585 Infection caused by Norovirus 2117 4 1.0 C0477729 Other chronic tubulo-interstitial nephritis 2104 4 1.0 C1392616 Nonobstructive chronic pyelonephritis NOS 2104 4 1.0 C2931118 Megalocytic interstitial nephritis 2104 4 1.0 C3553774 INTERSTITIAL NEPHRITIS, KARYOMEGALIC 2104 4 1.0 C0154207 Other specified disorders of adrenal gland 2093 4 1.0 C0271749 Abnormality of cortisol-binding globulin 2093 4 1.0 C1852529 Corticosteroid-Binding Globulin Deficiency 2093 4 1.0 C1969107 Corticosteroid-Binding Globulin, Elevated 2093 4 1.0 C0220998 Hypothalamic hypothyroidism 2066 4 1.0 C0394016 Coma, Post-Head Injury 2066 4 1.0 C0751812 Coma, Post-Traumatic, Prolonged 2066 4 1.0 C3887992 THYROTROPIN-RELEASING HORMONE DEFICIENCY 2066 4 1.0 C0014556 Epilepsy, Temporal Lobe 2052 4 0.6995476836933364 C0014558 Uncinate Epilepsy 2052 4 0.90625446164869 C0393672 Epilepsy, Benign Psychomotor, Childhood 2052 4 0.90625446164869 C0393682 Epilepsy, Lateral Temporal 2052 4 0.9057152939271543 C1848070 Lissencephaly and agenesis of corpus callosum 2031 4 0.7394439657826549 C1848199 X-Linked Lissencephaly 2031 4 0.7910665562850091 C1848200 SUBCORTICAL BAND HETEROTOPIA, X-LINKED 2031 4 0.7394439657826549 C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 2031 4 0.4366988429563044 C0001957 Alcohol Withdrawal Delirium 2026 4 0.7287739863779433 C0009088 Cluster Headache 2026 4 0.10847072985948918 C0854739 Advanced sleep phase 2026 4 0.7471456632218765 C0854740 Delayed sleep phase 2026 4 0.7471456632218765 C1848862 Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 2013 4 0.7821904190883422 C1851996 Dwarfism tall vertebrae 2013 4 0.8086341449502981 C2678312 Three M Syndrome 1 2013 4 0.7606098491639735 C2752041 Three M Syndrome 2 2013 4 0.4533953965449259 C0265241 Franceschetti-Klein syndrome 2006 4 0.5350980980337097 C1855433 Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 2006 4 0.43718790385001804 C3150983 TREACHER COLLINS SYNDROME 2 2006 4 0.18259377074664826 C4225305 LEUKODYSTROPHY, HYPOMYELINATING, 11 2006 4 0.43718790385001804 C1834659 Muscular dystrophy, limb-girdle, type 1A 2002 4 1.0 C1836607 MYOTILINOPATHY 2002 4 1.0 C1866785 Spheroid body myopathy 2002 4 1.0 C3714934 MYOPATHY, MYOFIBRILLAR, 3 2002 4 1.0 C0220748 Cartilage-hair hypoplasia 1965 4 0.49698046404406027 C1834821 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS 1965 4 0.49945719386709386 C1846796 Anauxetic dysplasia 1965 4 0.6758880230519195 C4479357 ANAUXETIC DYSPLASIA 2 1965 4 0.20955860028436096 C2677506 Cardiomyopathy, Familial Hypertrophic, 11 1955 4 1.0 C2748552 Atrial Septal Defect 5 1955 4 1.0 C3150681 CARDIOMYOPATHY, DILATED, 1R 1955 4 1.0 C3150682 LEFT VENTRICULAR NONCOMPACTION 4 1955 4 1.0 C1864171 Peroxisome Biogenesis Disorder, Complementation Group 12 1937 4 1.0 C1864172 Peroxisome Biogenesis Disorder, Complementation Group G 1937 4 1.0 C3553999 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) 1937 4 1.0 C4479254 PEROXISOME BIOGENESIS DISORDER 10B 1937 4 1.0 C0040820 Trematode Infections 1925 4 0.18360826675399552 C0151740 Intracranial Hypertension 1925 4 -0.006788146055624757 C0265325 Turcot syndrome (disorder) 1925 4 0.2669566842817014 C1838333 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 1925 4 0.21064162915878026 C0020179 Huntington Disease 1905 4 0.6131133932143453 C0393574 Huntington Disease, Late Onset 1905 4 0.8377637745743804 C0751207 Akinetic-Rigid Variant of Huntington Disease 1905 4 0.8377637745743804 C0751208 Juvenile Huntington Disease 1905 4 0.8541471364973284 C3810212 JOUBERT SYNDROME 21 1902 4 -0.0016848070386000556 C4084822 JOUBERT SYNDROME 23 1902 4 0.5096217763521104 C4225286 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY 1902 4 0.5096217763521104 C4518774 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 1902 4 0.5516313445750163 C0014544 Epilepsy 1901 4 0.5069372905650225 C0086237 Epilepsy, Cryptogenic 1901 4 0.5300347625933439 C0543888 Epileptic encephalopathy 1901 4 -0.028323523327071172 C0751111 Awakening Epilepsy 1901 4 0.5298326275394245 C1855577 Erythrocyte Lactate Transporter Defect 1872 4 0.8835242099319878 C1864902 Hyperinsulinemic hypoglycemia, familial, 7 1872 4 0.8835242099319878 C1864904 Exercise-induced hyperinsulinism 1872 4 0.6838780716446347 C4015186 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 1872 4 0.8835242099319878 C0029410 Osteoarthritis of hip 1871 4 0.6120331263438924 C1838280 Epiphyseal dysplasia, multiple, 1 1871 4 0.8840146461282982 C1851537 Fairbank disease 1871 4 0.8840146461282982 C1851538 Epiphyseal Dysplasia, Ribbing Type 1871 4 0.8840146461282982 C0015652 Fascioliasis 1867 4 0.6277408674588577 C0268576 Hyperleucinemia 1867 4 0.3830044297417646 C0406756 Keratolytic winter erythema 1867 4 0.1830131219347182 C1847555 Hyperinsulinemic hypoglycemia, familial, 6 1867 4 0.3830044297417646 C1834329 RETINITIS PIGMENTOSA 27 1858 4 0.4806017775377787 C1834330 Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type 1858 4 0.4806017775377787 C1862382 SVEINSSON CHORIORETINAL ATROPHY 1858 4 0.2141585166814749 C4024765 Peripapillary chorioretinal atrophy 1858 4 0.6666053456996756 C1832812 Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 1841 4 0.4010445085297324 C3809004 CATARACT 19, MULTIPLE TYPES 1841 4 0.2355600140911948 C3888097 CATARACT 21, MULTIPLE TYPES 1841 4 0.4010445085297324 C4021568 Cortical pulverulent cataract 1841 4 0.6346485928827926 C0152439 Retinoschisis 1820 4 0.9186218991170633 C0271091 Retinoschisis, Juvenile, X-Linked 1820 4 0.967418984468633 C1137478 Retinoschisis, Degenerative 1820 4 0.9750308190586006 C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE 1820 4 0.9726649304899302 C1833021 DEAFNESS, AUTOSOMAL DOMINANT 6 1817 4 1.0 C1861826 Cataract, Nuclear Total 1817 4 1.0 C3280358 Wolfram-Like Syndrome, Autosomal Dominant 1817 4 1.0 C3805412 CATARACT 41 1817 4 1.0 C0266006 Pili torti-deafness syndrome 1809 4 0.9776905499765519 C1852373 Mitochondrial encephalopathy 1809 4 0.9740969307853259 C1864002 GRACILE SYNDROME (disorder) 1809 4 0.9878541601856959 C3541471 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 1809 4 0.9878541601856959 C0280962 Bone Marrow Suppression 1796 4 1.0 C0342801 Thiopurine S methyltranferase deficiency 1796 4 1.0 C0948168 Bone marrow toxicity 1796 4 1.0 C2931223 6 alpha mercaptopurine sensitivity 1796 4 1.0 C0795910 COWCHOCK SYNDROME 1788 4 0.9741494579900968 C1845095 DEAFNESS, X-LINKED 5 (disorder) 1788 4 0.9741494579900968 C1846148 Sketetal dysplasia coarse facies mental retardation 1788 4 0.9741494579900968 C3151753 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 1788 4 0.9244309229690109 C0017574 Gingivitis 1748 4 0.04739206181505732 C0037856 Spermatic Cord Torsion 1748 4 0.6181679809665507 C1869122 EHLERS-DANLOS SYNDROME, PROGEROID FORM 1748 4 0.558509982867469 C3809210 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 1748 4 0.43588492187803807 C1843028 Deafness, Autosomal Recessive 37 1746 4 1.0 C2931767 Deafness, autosomal dominant nonsyndromic sensorineural 22 1746 4 1.0 C3149009 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY 1746 4 1.0 C3501265 Deafness, Sensorineural, with Hypertrophic Cardiomyopathy 1746 4 1.0 C0271514 Low frequency deafness 1745 4 0.347282503437948 C0452138 Sensorineural hearing loss, bilateral 1745 4 -0.20938443561920492 C1852282 DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 1745 4 0.4212163354710353 C4225261 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME 1745 4 0.44422495207280704 C1291245 Cortisone reductase deficiency 1729 4 0.6775899406331728 C3551716 CORTISONE REDUCTASE DEFICIENCY 1 1729 4 0.16236178820229905 C3553382 CORTISONE REDUCTASE DEFICIENCY 2 1729 4 0.5058751906815325 C4329210 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 1729 4 0.5058751906815325 C0004138 Ataxias, Hereditary 1722 4 0.12873456153264695 C0262404 Cerebellar degeneration 1722 4 0.7031135972786946 C0740279 Cerebellar atrophy 1722 4 0.7005062606470862 C4020873 Infratentorial atrophy 1722 4 0.6978889253026573 C1840061 SMALL PATELLA SYNDROME 1717 4 1.0 C1868581 Patella aplasia, coxa vara, tarsal synostosis 1717 4 1.0 C3150607 CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME 1717 4 1.0 C3150880 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME 1717 4 1.0 C0013080 Down Syndrome 1716 4 0.8621709493293989 C0432416 Down Syndrome, Partial Trisomy 21 1716 4 0.9545457534022488 C0432417 Trisomy 21, Meiotic Nondisjunction 1716 4 0.9545457534022488 C0751081 Trisomy 21, Mitotic Nondisjunction 1716 4 0.9545457534022488 C0023522 Leukodystrophy, Metachromatic 1699 4 0.9127566766631409 C0751276 Metachromatic leukodystrophy, juvenile type 1699 4 0.9784567939645856 C0751278 Metachromatic Leukodystrophy, Infant 1699 4 0.9844986646432038 C0751279 Metachromatic Leukodystrophy, Adult-Type (disorder) 1699 4 0.9784567939645856 C1863998 Peroxisome Biogenesis Disorder, Complementation Group 9 1681 4 0.9927955443639027 C1863999 Peroxisome Biogenesis Disorder, Complementation Group D 1681 4 0.9785130075335419 C3553959 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) 1681 4 0.9927955443639027 C3553960 PEROXISOME BIOGENESIS DISORDER 8B 1681 4 0.9927955443639027 C0268641 Amino acid transport disorder 1675 4 0.005978071932354226 C1848030 Hypotonia-Cystinuria Syndrome 1675 4 0.4663570264724615 C4304537 2p21 microdeletion syndrome 1675 4 0.45075156801676186 C4479088 MYASTHENIC SYNDROME, CONGENITAL, 22 1675 4 0.19642155432468647 C0162565 Acute intermittent porphyria 1673 4 0.9959110622293124 C0268322 Chester-type porphyria 1673 4 0.998639274498678 C1867969 Porphyria, Acute Intermittent, Nonerythroid Variant 1673 4 0.998639274498678 C2936779 Hydroxymethylbilane Synthase Deficiency 1673 4 0.998639274498678 C0001787 Osteoporosis, Age-Related 1664 4 0.9150399739135031 C0029456 Osteoporosis 1664 4 0.7417593446375949 C0029459 Osteoporosis, Senile 1664 4 0.9156957273377931 C0751406 Post-Traumatic Osteoporosis 1664 4 0.9145753186904838 C1853576 Diamond-Blackfan Anemia With Microtia And Cleft Palate 1662 4 0.3801539584392106 C2750080 Diamond-Blackfan Anemia 10 1662 4 0.007349865369069562 C4225411 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS 1662 4 0.012437330100045876 C4225422 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS 1662 4 0.012437330100045876 C0394006 Dysequilibrium syndrome 1652 4 0.5055461877482957 C2750234 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 1652 4 0.3787163447079746 C2750509 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 1652 4 0.4784773021791174 C3808977 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 1652 4 0.513711257906384 C3539168 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 1638 4 0.9950495777552114 C3553950 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 8 1638 4 0.9983473780603996 C3553951 PEROXISOME BIOGENESIS DISORDER 7B 1638 4 0.9983473780603996 C3888385 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) 1638 4 0.9983473780603996 C1838440 ICHTHYOSIS EXFOLIATIVA 1634 4 0.4576746754829982 C1842797 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 1634 4 0.20183545250730253 C1849193 PEELING SKIN SYNDROME 1634 4 0.1661554430214673 C4310710 PEELING SKIN SYNDROME 5 1634 4 0.19567187405639985 C0085661 Onycholysis 1633 4 0.024481775884359718 C1840299 Hypotrichosis Simplex of Scalp 1633 4 0.3757649689346729 C3151432 HYPOTRICHOSIS 3 1633 4 0.5011821529645496 C3554117 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE 1633 4 0.5011821529645496 C0038395 Streptococcal Infections 1632 4 0.869913117644807 C0477316 Other specified coagulation defects 1632 4 0.9667125729033856 C2752081 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY 1632 4 0.9667125729033856 C3489734 Anti-plasmin deficiency, congenital 1632 4 0.9667125729033856 C0235927 Vestibulocerebellar ataxia 1631 4 0.6508862232903943 C1837007 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 1631 4 0.44194243967251207 C3149566 DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT 1631 4 0.44194243967251207 C4015050 DEAFNESS, AUTOSOMAL RECESSIVE 103 1631 4 0.2208888695984414 C0454455 Mirror movements disorder 1630 4 0.19435850177653452 C3281089 MIRROR MOVEMENTS 2 1630 4 0.40235211863948145 C4284093 FANCONI ANEMIA, COMPLEMENTATION GROUP R 1630 4 0.40235211863948145 C4479640 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 1630 4 0.02990250378864007 C0342776 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency 1618 4 0.25523039551124216 C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY 1618 4 0.6897253478517794 C1855020 Acute necrotizing encephalopathy 1618 4 0.583536851355696 C2936907 NADH:Q(1) Oxidoreductase deficiency 1618 4 0.6809300075488732 C0265268 Adams Oliver syndrome 1612 4 0.24626646398252577 C3280182 ADAMS-OLIVER SYNDROME 2 1612 4 0.11945273048497816 C3809092 ADAMS-OLIVER SYNDROME 4 1612 4 0.14968814822119603 C4225271 ADAMS-OLIVER SYNDROME 6 1612 4 0.1448909977210813 C1858496 Advanced Sleep-Phase Syndrome, Familial 1607 4 0.5676626468821583 C3807327 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 1607 4 0.20439008138949824 C3808874 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 1607 4 0.18234632393097386 C4225169 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 1607 4 0.1608018100036085 C0270612 Leukoencephalopathies 1606 4 0.1354334035343468 C1847967 OVARIOLEUKODYSTROPHY 1606 4 0.549177846702693 C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization 1606 4 0.6702942031271522 C2960129 Vanishing white matter disease 1606 4 0.5511014316085664 C1858392 NEPHRONOPHTHISIS 3 1582 4 0.9068365744274985 C2673883 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1582 4 0.5605354023863534 C2673885 Renal hepatic pancreatic dysplasia Dandy Walker cyst 1582 4 0.9054387496351294 C3715199 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 1582 4 0.8928033303679691 C0175694 Smith-Lemli-Opitz Syndrome 1569 4 0.9752497124597833 C0282643 Smith-Lemli-Opitz Syndrome, Type I 1569 4 0.9920656845658736 C0282644 Smith-Lemli-Opitz Syndrome, Type II 1569 4 0.9920656845658736 C2713347 7-Dehydrocholesterol Reductase Deficiency 1569 4 0.9920656845658736 C0011854 Diabetes Mellitus, Insulin-Dependent 1561 4 0.6536564888319599 C0205734 Diabetes, Autoimmune 1561 4 0.8766841153638378 C0342302 Brittle diabetes 1561 4 0.8759847993193564 C3837958 Diabetes Mellitus, Ketosis-Prone 1561 4 0.8739155913696601 C0276096 Mastitis-metritis-agalactia syndrome 1556 4 0.9271554973832203 C1855114 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 1556 4 0.9656576949735067 C1855115 Methylmalonic Aciduria, mut(0) Type 1556 4 0.9735289792137636 C1855116 Methylmalonic Aciduria, mut(-) Type 1556 4 0.9735289792137636 C0271165 Punctate cataract 1542 4 0.47328110646957205 C1832175 Cataract, Congenital, Cerulean Type, 2 1542 4 -0.10506018421842693 C1843042 Craniolenticulosutural Dysplasia 1542 4 0.47328110646957205 C4023734 Sutural cataract 1542 4 0.0 C0034067 Pulmonary Emphysema 1528 4 0.8699255454217851 C0221227 Centriacinar Emphysema 1528 4 0.9580362960754452 C0264393 Panacinar Emphysema 1528 4 0.9590502617079391 C2350878 Focal Emphysema 1528 4 0.9580362960754452 C0014799 Erythroderma, Maculopapular 1505 4 0.9999999999999991 C0030437 Parakeratosis Variegata 1505 4 0.9999999999999991 C0030491 Parapsoriasis 1505 4 0.9999999999999991 C0162442 Parapsoriasis en Plaques 1505 4 0.9999999999999991 C0403399 Finnish congenital nephrotic syndrome 1494 4 0.9683082888683257 C1704320 Glomerulonephritis, Minimal Change 1494 4 0.977604704876201 C1704321 Nephrotic Syndrome, Minimal Change 1494 4 0.9636402843774853 C3501848 Nephrosis, congenital 1494 4 0.9584730659240772 C1261175 Pontoneocerebellar hypoplasia 1477 4 0.3620903754809383 C1843504 Pontocerebellar Hypoplasia Type 1 1477 4 0.3714890603059126 C1969084 Pontocerebellar Hypoplasia Type 6 1477 4 0.21141239301997736 C3553449 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 1477 4 0.1990711850354729 C1832399 Charcot-Marie-Tooth disease, Type 4B1 1475 4 -0.015475018631010114 C1866636 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 1475 4 0.4310433328408051 C3150596 MONONEUROPATHY OF THE MEDIAN NERVE, MILD 1475 4 0.4310433328408051 C4082197 Charcot-Marie-Tooth disease type 4 1475 4 0.554045516085599 C0002736 Amyotrophic Lateral Sclerosis 1464 4 0.5231612864615848 C0393554 Amyotrophic Lateral Sclerosis With Dementia 1464 4 0.5065393140806872 C0543859 Amyotrophic Lateral Sclerosis, Guam Form 1464 4 0.48905385947460517 C4020854 Neuro-degenerative disease 1464 4 0.23052351604307295 C0003851 Arteriosclerosis Obliterans 1452 4 0.7908589129385872 C0085207 Gestational Diabetes 1452 4 0.2712847924169374 C2675518 Adiponectin Deficiency 1452 4 0.7908589129385872 C2675519 Hypoadiponectinemia 1452 4 0.7903422154892488 C0157743 Vibratory urticaria 1448 4 1.0 C0473546 Vibratory angioedema 1448 4 1.0 C1852145 Familial dermographism 1448 4 1.0 C1852146 DERMODISTORTIVE URTICARIA 1448 4 1.0 C3278481 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 1439 4 0.12812216106623717 C3502492 Microcephaly with Chorioretinopathy, Autosomal Recessive 1439 4 0.5275860814868314 C4015388 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 1439 4 0.01222619684657216 C4225362 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 1439 4 0.17655159511533985 C3150275 COMPLEMENT COMPONENT 2 DEFICIENCY 1438 4 0.20347883136266592 C3809653 MACULAR DEGENERATION, AGE-RELATED, 14 1438 4 0.7300673201333486 C3809654 MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF 1438 4 0.7300673201333486 C3809950 COMPLEMENT FACTOR B DEFICIENCY 1438 4 0.13172921248628428 C0795830 CHROMOSOME 9p DELETION SYNDROME 1428 4 1.0 C1855425 Marles Greenberg Persaud syndrome 1428 4 1.0 C2750433 Bifid Nose With Or Without Anorectal And Renal Anomalies 1428 4 1.0 C2751431 Bifid Nose, Autosomal Dominant 1428 4 1.0 C0472792 Hemolytic anemia due to hexokinase deficiency 1426 4 1.0 C1854449 Neuropathy, hereditary motor and sensory, Russe type 1426 4 1.0 C3150343 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 1426 4 1.0 C4479526 RETINITIS PIGMENTOSA 79 1426 4 1.0 C0282526 Hyperpipecolic Acidemia 1422 4 0.9999999999999996 C0751708 Peroxisomal Dysfunction, General 1422 4 0.9999999999999996 C0751709 Peroxisomal Dysfunction, Multiple 1422 4 0.9999999999999996 C0751710 Peroxisomal Dysfunction, Single 1422 4 0.9999999999999996 C0002886 Anemia, Macrocytic 1397 4 0.3596136155223349 C1260899 Anemia, Diamond-Blackfan 1397 4 0.684115553161268 C2931850 Aase Smith syndrome 2 1397 4 0.7591098322953096 C4021821 Abnormality of the urinary system 1397 4 0.6598239688072091 C0428791 Aortic valve calcification 1387 4 0.5893559826909605 C1260873 Aortic valve disorder 1387 4 0.5755500314962895 C3887892 Aortic Valve Disease 1 1387 4 0.6838932794436152 C4014970 ADAMS-OLIVER SYNDROME 5 1387 4 0.5428075822644881 C0001849 AIDS Dementia Complex 1385 4 0.7435551199320629 C0206019 HIV Encephalopathy 1385 4 0.8918020708982011 C0243010 Viral Encephalitis 1385 4 0.8925961896938558 C0936243 HIV-1-Associated Cognitive Motor Complex 1385 4 0.8925961896938558 C0242423 Ramsay Hunt Paralysis Syndrome 1380 4 0.847252628185406 C0752097 Autosomal Dominant Juvenile Parkinson Disease 1380 4 0.847252628185406 C0752098 Autosomal Dominant Parkinsonism 1380 4 0.6879675453470102 C0752104 Familial Juvenile Parkinsonism 1380 4 0.847252628185406 C1846862 PARKINSON DISEASE 8 (disorder) 1377 4 0.5166910906744966 C3489791 Parkinson Disease, Familial, Type 1 1377 4 0.2767184953457182 C4274355 Autosomal dominant late onset Parkinson disease 1377 4 0.2586934111035029 C4511452 Sporadic Parkinson disease 1377 4 0.4095633351858349 C0002880 Autoimmune hemolytic anemia 1376 4 0.38105596977255063 C0002883 Anemia, Hemolytic, Idiopathic Acquired 1376 4 0.849513048958656 C0175816 Cold Hemagglutinin Disease 1376 4 0.849513048958656 C0543663 Idiopathic Autoimmune Hemolytic Anemia 1376 4 0.849513048958656 C1849236 Severe combined immunodeficiency, atypical 1371 4 0.9713741793174235 C2931299 ZAP70 deficiency 1371 4 0.9912778369672891 C2931320 T cell immunodeficiency primary 1371 4 0.9912778369672891 C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 1371 4 0.9912778369672891 C0005697 Neurogenic Urinary Bladder 1363 4 0.5581547977365222 C0149622 Neurogenic Urinary Bladder, Atonic 1363 4 0.8438184237703538 C0750953 Urinary Bladder Neurogenesis 1363 4 0.8438184237703538 C0750955 Neurogenic Urinary Bladder, Spastic 1363 4 0.8438184237703538 C0268534 Prolinuria 1356 4 0.36699454495783834 C0268654 Iminoglycinuria 1356 4 0.6550185765694375 C0341706 Glycinuria 1356 4 0.24134093454127567 C0543541 HYPERGLYCINURIA (disorder) 1356 4 0.7441020200215402 C0268579 Propionic acidemia 1354 4 0.8492632541412186 C0311298 Propionic acidemia, type II 1354 4 0.8538448295626059 C1306587 Acute encephalopathy 1354 4 0.5554581171325069 C2717876 Propionicaciduria 1354 4 0.8538448295626059 C0431693 Renal cysts and diabetes syndrome 1350 4 0.7516846297756881 C1567426 Unilateral Multicystic Dysplastic Kidney 1350 4 0.8452451873675859 C1567427 Bilateral Multicystic Dysplastic Kidneys 1350 4 0.8452451873675859 C3281138 CHROMOSOME 17q12 DELETION SYNDROME 1350 4 0.6331844510250144 C1832244 CARDIOMYOPATHY, DILATED, 1C (disorder) 1348 4 1.0 C1836155 Myopathy, Myofibrillar, Zasp-Related 1348 4 1.0 C3152137 LEFT VENTRICULAR NONCOMPACTION 3 1348 4 1.0 C4225414 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24 1348 4 1.0 C0392470 Anomalous atrioventricular excitation 1345 4 1.0 C1864730 Polyposis Syndrome, Hereditary Mixed, 2 1345 4 1.0 C2677102 Chromosome 10q23 Deletion Syndrome 1345 4 1.0 C4023006 Juvenile colonic polyposis 1345 4 1.0 C0019147 Hepatic Coma 1336 4 0.9354671080152622 C0019151 Hepatic Encephalopathy 1336 4 0.8199469950257158 C0751197 Fulminant Hepatic Failure with Cerebral Edema 1336 4 0.9354671080152622 C0751198 Hepatic Stupor 1336 4 0.9354671080152622 C0002878 Anemia, Hemolytic 1319 4 0.7722862154642667 C0002879 Anemia, Hemolytic, Acquired 1319 4 0.9263136988199357 C0002889 Anemia, Microangiopathic 1319 4 0.9247417218838393 C0221021 Microangiopathic hemolytic anemia 1319 4 0.9206458597140103 C0752166 Bardet-Biedl Syndrome 1317 4 0.36217869186907337 C0869083 Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 1317 4 0.20269245452936568 C2936862 Bardet-Biedl syndrome 1 (disorder) 1317 4 0.16707702457124748 C3714581 Multicystic Dysplastic Kidney 1317 4 -0.07937274706744646 C0740896 Hypokalemic hypochloremic metabolic alkalosis 1304 4 0.2844724550683174 C2751312 BARTTER SYNDROME, TYPE 4B 1304 4 0.31653165292907026 C3671887 Hypernatriuria 1304 4 0.26033317660121696 C4310805 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS 1304 4 0.5707009785019546 C0014549 Tonic-Clonic Epilepsy 1299 4 0.9694464538022375 C0751117 Cryptogenic Tonic-Clonic Epilepsy 1299 4 0.9897204555042906 C0751118 Epilepsy, Tonic-Clonic, Familial 1299 4 0.9897204555042906 C0751119 Epilepsy, Tonic-Clonic, Symptomatic 1299 4 0.9897204555042906 C0432267 Tricho-thiodystrophy disorder 1294 4 1.0 C1313961 Trichorrhexis nodosa syndrome 1294 4 1.0 C3495483 Amish Brittle Hair Brain Syndrome 1294 4 1.0 C4083251 Trichothiodystrophy, Nonphotosensitive 1 1294 4 1.0 C0009207 Cockayne Syndrome 1290 4 0.4352848482479391 C0751037 Cockayne Syndrome, Type III 1290 4 0.46770761448377346 C0751038 Cockayne Syndrome, Type II 1290 4 0.431800482543334 C0751039 Cockayne Syndrome, Type I 1290 4 0.4470211876920407 C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome 1279 4 0.9660781008093098 C1837210 OROFACIAL CLEFT 5 1279 4 0.7913740904572161 C1970117 Tooth Agenesis, Selective, With Orofacial Cleft 1279 4 0.9660781008093098 C1970118 Hypodontia Oligodontia with Orofacial Cleft 1279 4 0.9660781008093098 C0795841 Jacobsen Distal 11q Deletion Syndrome 1276 4 0.9878108482912601 C1861178 Thrombocytopenia Paris-Trousseau type 1276 4 0.9959254730538218 C1956093 Paris-Trousseau Thrombocytopenia 1276 4 0.9959254730538218 C4479515 BLEEDING DISORDER, PLATELET-TYPE, 21 1276 4 0.9959254730538218 C0030486 Paraplegia 1273 4 0.25264087758433296 C1846564 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 1273 4 0.7604457615061272 C1968845 Primary Lateral Sclerosis, Adult, 1 1273 4 0.7604457615061272 C3711370 Spastic Paraplegia Type 7 1273 4 0.7604457615061272 C0020459 Hyperinsulinism 1268 4 0.5186276273150053 C1257963 Endogenous Hyperinsulinism 1268 4 0.8545702054638838 C1257964 Exogenous Hyperinsulinism 1268 4 0.8545702054638838 C1257965 Compensatory Hyperinsulinemia 1268 4 0.8549451851350132 C0406369 Lichen planus pemphigoides 1265 4 0.9523254888813999 C0406650 Linear IgA Bullous Dermatosis 1265 4 0.8620032533020708 C1852551 Epithelial Recurrent Erosion Dystrophy 1265 4 0.9523254888813999 C4304724 Late-onset junctional epidermolysis bullosa 1265 4 0.9523254888813999 C0342376 Panhypopituitarism - X-linked 1259 4 0.9760265070540525 C1848068 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 1259 4 0.9760265070540525 C1855900 HYPERTRICHOSIS, CONGENITAL GENERALIZED 1259 4 0.9206198518775859 C2678223 Mental Retardation, X-Linked, With Panhypopituitarism 1259 4 0.9760265070540525 C1847582 Lipodystrophy with Congenital Cataracts and Neurodegeneration 1258 4 1.0 C2675861 Lipodystrophy, Congenital Generalized, Type 3 1258 4 1.0 C3807567 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME 1258 4 1.0 C3809192 PULMONARY HYPERTENSION, PRIMARY, 3 1258 4 1.0 C1865384 Amyotrophy, monomelic 1233 4 0.5612748483565613 C2745997 OROFACIODIGITAL SYNDROME VI 1233 4 0.22817648831959442 C3553264 JOUBERT SYNDROME 17 1233 4 0.545036801201581 C4021581 Distal upper limb amyotrophy 1233 4 0.017551104874552827 C0009714 Hepatic Fibrosis, Congenital 1230 4 0.14194869715222255 C0085548 Autosomal Recessive Polycystic Kidney Disease 1230 4 0.1261045979147495 C0162510 Caroli Disease 1230 4 0.47044543409408385 C1833541 Caroli disease isolated 1230 4 0.5373241586590898 C1857779 SENIOR-LOKEN SYNDROME 6 1224 4 0.9275004815507638 C1857780 JOUBERT SYNDROME 5 1224 4 0.9772479626927189 C1857821 LEBER CONGENITAL AMAUROSIS 10 (disorder) 1224 4 0.9772479626927189 C1970161 MECKEL SYNDROME, TYPE 4 1224 4 0.9772479626927189 C0311245 Congenital cystic kidney disease 1222 4 0.2288857642215149 C1857662 COACH syndrome 1222 4 0.3743529348949383 C4020790 Medullary sponge kidney disease 1222 4 0.5796980971608529 C4024644 Multiple small medullary renal cysts 1222 4 0.5796980971608529 C1836050 Filaminopathy, autosomal dominant 1218 4 0.9906042295542631 C3279722 MYOPATHY, DISTAL, 4 1218 4 0.9968577079381988 C4310748 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5 1218 4 0.9968577079381988 C4310749 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 1218 4 0.9968577079381988 C1862389 ATRIAL SEPTAL DEFECT 1 1210 4 0.8284271247461897 C1862391 ASD I 1210 4 0.9349126180414541 C1862392 Atrial Septal Defect, Secundum Type 1210 4 0.9349126180414541 C1862393 ASD II 1210 4 0.9349126180414541 C0027126 Myotonic Dystrophy 1208 4 0.7231286898546739 C0410226 Congenital Myotonic Dystrophy 1208 4 0.5609582132392523 C2931689 Dystrophia myotonica 2 1208 4 0.6018474589767683 C3250443 MYOTONIC DYSTROPHY 1 1208 4 0.49368672418271026 C0596131 audiogenic seizure 1193 4 0.7869541890541861 C1401084 Ovarian Insufficiency 1193 4 0.5846286681209663 C1839780 FRAGILE X TREMOR/ATAXIA SYNDROME 1193 4 0.7835856967062563 C3275521 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 1193 4 0.7869541890541861 C0040963 Tricuspid Valve Stenosis 1192 4 0.6368290335248984 C1837657 Spondyloepiphyseal dysplasia, Omani type 1192 4 0.4939833464638853 C2931649 Larsen syndrome, recessive type 1192 4 0.4939833464638853 C3278147 GELEOPHYSIC DYSPLASIA 1 1192 4 0.03254268110472885 C0015708 Fazio-Londe Syndrome 1187 4 0.8789814120223987 C0030442 Progressive bulbar palsy 1187 4 0.8789814120223987 C0393540 Childhood Progressive Bulbar Palsy 1187 4 0.8789814120223987 C0796274 Brown-Vialetto-Van Laere syndrome 1187 4 0.6242815659133077 C0018055 Gonadal Dysgenesis, Mixed 1178 4 0.06163205738058863 C0432470 46, XY female 1178 4 0.6651249785936851 C2748896 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 1178 4 0.7442203067209071 C2748897 46,Xy True Hermaphroditism, Sry-Related 1178 4 0.7442203067209071 C0026705 Mucopolysaccharidosis II 1176 4 0.9995007884476012 C0342841 Hunter\'s syndrome, severe form 1176 4 0.9998335879055861 C0342842 Hunter\'s syndrome, mild form 1176 4 0.9998335879055861 C2718304 Sulfoiduronate Sulfatase Deficiency 1176 4 0.9998335879055861 C1860752 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 1160 4 0.9892816288917842 C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 1160 4 0.9683061203126658 C2678474 CARDIOMYOPATHY, DILATED, 2A (disorder) 1160 4 0.9892816288917842 C2750091 Cardiomyopathy, Dilated, 1FF 1160 4 0.9892816288917842 C0175778 Larsen syndrome 1154 4 0.9721304765086209 C0432201 Boomerang dysplasia 1154 4 0.9721304765086209 C1848934 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 1154 4 0.9151439698592431 C2931648 Larsen syndrome, dominant type 1154 4 0.9721304765086209 C0034362 Q Fever 1152 4 0.9999999999999998 C0519066 Acute Q fever 1152 4 0.9999999999999998 C1443892 Chronic Q Fever 1152 4 0.9999999999999998 C2973787 Coxiella burnetii Infection 1152 4 0.9999999999999998 C0266941 Derangement of temporomandibular joint 1150 4 0.9090273257279468 C1263858 Muscular dystrophy congenital, merosin negative 1150 4 0.9090273257279468 C1842898 Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency 1150 4 0.9090273257279468 C2827469 Coronary Microvascular Disease 1150 4 0.71346407156482 C0342782 Depletion of mitochondrial DNA 1142 4 0.5537493321779642 C3149750 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) 1142 4 0.897339513924786 C3501891 Mitochondrial DNA Depletion Syndrome, Myopathic Form 1142 4 0.897339513924786 C4310734 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 1142 4 0.897339513924786 C0003756 Arenaviridae Infections 1141 4 1.0 C0205671 Infections, Arenavirus 1141 4 1.0 C3714509 Nutrition Disorders 1141 4 1.0 C4225219 IMMUNODEFICIENCY 46 1141 4 1.0 C0007193 Cardiomyopathy, Dilated 1138 4 0.5573060417302593 C0264886 Conduction disorder of the heart 1138 4 0.3898556667639416 C0340427 Familial dilated cardiomyopathy 1138 4 0.36060005547372864 C1449563 Cardiomyopathy, Familial Idiopathic 1138 4 0.0031474371698796706 C0030328 Panniculitis, Nodular Nonsuppurative 1137 4 0.9099145068384988 C0039841 Thiamine Deficiency 1137 4 0.7563350547642427 C0221757 alpha 1-Antitrypsin Deficiency 1137 4 0.9082163247087114 C3501835 alpha-1-Antitrypsin Deficiency, Autosomal Recessive 1137 4 0.9067327320060637 C1845292 FANCONI ANEMIA, COMPLEMENTATION GROUP B 1131 4 0.8366435582137525 C1848599 VACTERL Association With Hydrocephalus 1131 4 0.6668137038864544 C1848600 Vater Association With Hydrocephalus 1131 4 0.8366435582137525 C2749240 Vater Association With Macrocephaly And Ventriculomegaly 1131 4 0.868649653382645 C0022578 Keratoconus 1121 4 0.1752792905172218 C0028077 Night Blindness 1121 4 0.06556981725310781 C0035334 Retinitis Pigmentosa 1121 4 0.3825011683105577 C0271215 Blindness, Legal 1121 4 0.10489975599125101 C0339527 Leber Congenital Amaurosis 1120 4 0.614613666104317 C0375206 Hemiplegia/hemiparesis 1120 4 0.28613392330803156 C1301509 Severe visual impairment 1120 4 0.5081365186465451 C3540662 Congenital Amaurosis of Retinal Origin 1120 4 0.35544780678837085 C0342467 Late onset congenital adrenal hyperplasia 1119 4 0.8788701999033757 C0852654 21-hydroxylase deficiency 1119 4 0.6383699403167985 C1859995 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 1119 4 0.8788701999033757 C4273964 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1119 4 0.8788701999033757 C0028879 Odontogenic Cysts 1114 4 0.9795969719383795 C0341038 Jaw Keratocyst 1114 4 0.9401514547001606 C1835820 HOLOPROSENCEPHALY 7 1114 4 0.9795969719383795 C3711390 9q22.3 Microdeletion 1114 4 0.9795969719383795 C0155285 Orbital cyst 1113 4 0.318931892986822 C1397139 Calcification of falx cerebri 1113 4 0.2880543440788892 C1862304 Hamartomatous polyp of stomach 1113 4 0.3386960476076822 C4540342 JOUBERT SYNDROME 32 1113 4 0.20405210589652178 C1838647 RETINITIS PIGMENTOSA 12 (disorder) 1093 4 1.0 C1868310 Pigmented Paravenous Chorioretinal Atrophy 1093 4 1.0 C3151202 LEBER CONGENITAL AMAUROSIS 8 1093 4 1.0 C4072868 Paravenous chorioretinal atrophy 1093 4 1.0 C0152113 Rheumatic Chorea 1086 4 0.9999999999999991 C0238056 Chorea, Senile 1086 4 0.9999999999999991 C0699728 Chronic progressive chorea 1086 4 0.9999999999999991 C0699731 Hereditary Chorea 1086 4 0.9999999999999991 C0393584 Benign Hereditary Chorea 1085 4 0.13057876629906617 C1859098 Chorea, Benign Familial 1085 4 0.5183752558699096 C1970269 Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 1085 4 0.5300655769224515 C1970270 Choreoathetosis And Congenital Hypothyroidism 1085 4 0.5300655769224515 C1719788 Episodic ataxia type 1 1083 4 0.9937712035281208 C1834559 Continuous Muscle Fiber Activity, Hereditary 1083 4 0.99792108950975 C2674766 Myokymia 1 1083 4 0.99792108950975 C4305155 Isolated autosomal dominant hypomagnesemia Glaudemans type 1083 4 0.99792108950975 C3149378 IMMUNODEFICIENCY, COMMON VARIABLE, 1 1071 4 0.3055805201478008 C3277428 Severe viral infections 1071 4 0.4669578382140786 C3809991 IMMUNODEFICIENCY, COMMON VARIABLE, 10 1071 4 0.3055805201478008 C4014617 IMMUNODEFICIENCY 24 1071 4 0.17048051471309186 C0751882 Myasthenic Syndromes, Congenital 1070 4 0.8067212812807858 C0751883 Congenital Myasthenic Syndromes, Postsynaptic 1070 4 0.7916665167886413 C0751884 Congenital Myasthenic Syndromes, Presynaptic 1070 4 0.7708690093920988 C0751885 Myasthenic Syndromes, Congenital, Slow Channel 1070 4 0.837522037499178 C1864623 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 1061 4 0.7740308333291879 C4225365 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 1061 4 0.9551660346730506 C4274081 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 1061 4 0.9551660346730506 C4303593 DEND syndrome 1061 4 0.9551660346730506 C0027773 Nesidioblastosis 1060 4 0.8039118005413906 C2931832 Hyperinsulinemic hypoglycemia, familial, 1 1060 4 0.6511213815377133 C2931833 Hyperinsulinemic hypoglycemia, familial, 2 1060 4 0.5028937945044223 C3888018 Congenital Hyperinsulinism 1060 4 0.807907299537654 C0520739 Hereditary pyropoikilocytosis 1049 4 0.6205961614191472 C1851741 ELLIPTOCYTOSIS 2 (disorder) 1049 4 0.9101178765476561 C2678338 SPHEROCYTOSIS, TYPE 3 (disorder) 1049 4 0.9101178765476561 C4025285 Microspherocytosis 1049 4 0.9101178765476561 C0338430 Limbic Encephalitis 1037 4 0.7776603817177512 C0391957 idiopathic epilepsy 1037 4 0.11579113947359684 C1838062 EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT 1037 4 0.5032359210600972 C1842564 Temporal epilepsy, familial 1037 4 0.7776603817177512 C1846722 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1022 4 0.946143372501969 C3277723 JOUBERT SYNDROME 12 1022 4 0.946143372501969 C3279899 Hydrolethalus Syndrome 2 1022 4 0.946143372501969 C3280899 JOUBERT SYNDROME 12/15, DIGENIC 1022 4 0.8572341480286065 C1275078 Acrocephalopolysyndactyly type 2 1020 4 0.5749292255748233 C1866339 Preaxial Hallucal Polydactyly 1020 4 -0.08921202085428967 C3554247 CARPENTER SYNDROME 2 1020 4 0.4232457986339482 C4020889 Cornela disease 1020 4 0.07721152036680853 C0431406 Asymmetric crying face association 1013 4 0.772551481316319 C2936346 22q11 Deletion Syndrome 1013 4 0.7199978580301384 C3266101 22q11 partial monosomy syndrome 1013 4 0.8701801956520172 C4024912 Occipital myelomeningocele 1013 4 0.8693693476693937 C0032001 Pituitary Apoplexy 1003 4 0.9052517448587774 C0035333 Retinitis 1003 4 0.7450760583596704 C0154874 Neuroretinitis 1003 4 0.9052517448587774 C3203733 Precordial Catch Syndrome 1003 4 0.9052517448587774 C0343239 Benign congenital hypotonia 994 4 0.4019925104659892 C1655035 congenital muscle disorder 994 4 0.4019925104659892 C1846169 Myotubular Myopathy with Abnormal Genital Development 994 4 0.6350157990683348 C2677879 Hypospadias 2, X-Linked 994 4 0.23113941006447167 C0795878 Monosomy 22 986 4 0.9157211381818925 C2750405 Malignant Rhabdoid Tumor, Somatic 986 4 0.9157211381818925 C2985524 Rhabdoid Tumor Predisposition Syndrome 986 4 0.9157211381818925 C3553248 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 986 4 0.4769118408704372 C1969562 Mental Retardation, Autosomal Dominant 1 983 4 0.8177601902532841 C3277090 CHROMOSOME 2q23.1 DELETION SYNDROME 983 4 0.7779578635877981 C3553247 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 983 4 -0.06539317343845784 C4304532 2q23.1 microdeletion syndrome 983 4 0.710787630067661 C1854023 Spinal muscular atrophy, Jerash type 965 4 0.3467724488146202 C3280587 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE 965 4 0.1331586705851838 C3711384 Distal Hereditary Motor Neuropathy, Type II 965 4 -0.1818813881409131 C3888271 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID 965 4 0.2966258170086335 C1833213 Hyperferritinemia, hereditary, with congenital cataracts 961 4 1.0 C1853578 Neuroferritinopathy 961 4 1.0 C3810090 L-FERRITIN DEFICIENCY 961 4 1.0 C4024952 Cavitation of the basal ganglia 961 4 1.0 C0234517 Anarthria speech disorder 960 4 0.08043819918468745 C1853396 Primary lateral sclerosis juvenile 960 4 0.753905345597191 C1859807 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 960 4 0.8209290580127173 C2931441 Hereditary spastic paralysis, infantile onset ascending 960 4 0.821824421655318 C0008384 Cholesterol Ester Storage Disease 952 4 0.9985191034107612 C0043208 Wolman Disease 952 4 0.9960593127221445 C0271750 Adrenal calcification 952 4 0.9985191074284671 C2936797 Acid cholesteryl ester hydrolase deficiency, type 2 952 4 0.9985191074284671 C0338902 Writer\'s cramp neurosis 949 4 0.8441872370991478 C1851945 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 949 4 0.9503061918558788 C1969807 Dystonia, Focal, Task-Specific 949 4 0.9509677233862748 C3888090 Early onset torsion dystonia 949 4 0.9288907100489566 C1302995 Congenital Fibrosis of the Extraocular Muscles 945 4 0.30101428099664596 C1851102 Fibrosis Of Extraocular Muscles, Congenital, 1 945 4 0.42589779956938045 C1865915 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 945 4 -0.03851296999547444 C2751105 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) 945 4 0.4127186388383141 C0398762 Properdin deficiency disease 942 4 1.0 C1839454 PROPERDIN DEFICIENCY, X-LINKED 942 4 1.0 C1839455 Properdin Deficiency, Type II 942 4 1.0 C1839456 Properdin Deficiency, Type III 942 4 1.0 C0026363 Mohr Syndrome 938 4 0.6479954291803536 C0029294 Orofaciodigital Syndromes 938 4 0.261830846169915 C2931889 Oral-facial-digital syndrome, type 2 938 4 0.08385527621285029 C4014780 OROFACIODIGITAL SYNDROME XIV 938 4 0.5251645199190038 C0008313 Cholangitis, Sclerosing 923 4 0.22838409719731467 C0038013 Ankylosing spondylitis 923 4 -0.12575006794417226 C0566602 Primary sclerosing cholangitis 923 4 -0.12001639727158234 C4022867 Spider hemangioma 923 4 -0.31407259472744936 C0175701 Aarskog syndrome 918 4 0.7989257328478363 C1844569 Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 918 4 0.9575445344660868 C1856871 Autosomal recessive facio-digito-genital syndrome 918 4 0.9575445344660868 C3275558 MENTAL RETARDATION, X-LINKED, SYNDROMIC 16 918 4 0.9575445344660868 C1300267 Brachydactyly syndrome type B 913 4 0.9376849361290489 C1849334 Robinow syndrome, autosomal recessive 913 4 0.9377360024927834 C3151609 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS 913 4 0.9621021108222909 C3151610 ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY 913 4 0.9621021108222909 C3714995 CARDIOMYOPATHY, DILATED, 1KK 908 4 1.0 C3714998 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22 908 4 1.0 C3808963 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 908 4 1.0 C4479186 NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE 908 4 1.0 C0220662 ARTHROGRYPOSIS, DISTAL, TYPE 1 903 4 0.4782600786121121 C0265213 Distal arthrogryposis syndrome 903 4 0.5499843490737487 C1834523 ARTHROGRYPOSIS, DISTAL, TYPE 2B 903 4 0.6709235484073736 C1852085 Digitotalar Dysmorphism 903 4 0.7005051894227141 C0079295 Epidermolysis Bullosa Herpetiformis Dowling-Meara 894 4 0.7538797606067297 C0079298 Epidermolysis Bullosa Simplex 894 4 0.707154624715467 C0080333 Weber-Cockayne Syndrome 894 4 0.7318028169411396 C1832926 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 894 4 0.5214622355113551 C0031190 Persistent Fetal Circulation Syndrome 892 4 0.37192791147074433 C1302790 Congenital malformation syndrome 892 4 0.48092873988055274 C2675862 Pyloric Stenosis, Infantile Hypertrophic, 5 892 4 0.7699820102594364 C2931117 Fetal megacystis 892 4 0.7699820102594364 C1563696 DNA Repair-Deficiency Disorders 885 4 0.9621712857806799 C1563697 Chromosome Instability Syndromes 885 4 0.9621712857806799 C3150667 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY 885 4 0.8679791396861877 C4225397 ATAXIA-OCULOMOTOR APRAXIA 4 885 4 0.9621712857806799 C0270724 Infantile Neuroaxonal Dystrophy 874 4 0.8493486536305945 C1857747 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 874 4 0.9665095510784714 C2750220 Karak Syndrome 874 4 0.9665095510784714 C2751842 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 874 4 0.9665095510784714 C1832845 USHER SYNDROME, TYPE ID 857 4 0.8977181164936108 C2931208 Usher syndrome, type 1D 857 4 0.9490953783093523 C3152102 USH1D/F, CDH23/PCDH15, DIGENIC 857 4 0.9565205458420806 C3275872 USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC 857 4 0.9565205458420806 C0338473 Neuroaxonal Dystrophies 850 4 0.9763121476503032 C0751716 Adult Neuroaxonal Dystrophy 850 4 0.9925714371010504 C0751717 Juvenile Neuroaxonal Dystrophy 850 4 0.9925714371010504 C0751718 Late Infantile Neuroaxonal Dystrophy 850 4 0.9925714371010504 C1837355 Leukodystrophy, Hypomyelinating, 2 828 4 0.9646717087668447 C2750784 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) 828 4 0.9689434860194519 C3150732 LYMPHEDEMA, HEREDITARY, IC 828 4 0.9689434860194519 C4274084 Pelizaeus Merzbacher like disease 828 4 0.8988264701320258 C0017205 Gaucher Disease 826 4 0.7812757061487929 C0268250 Gaucher Disease, Type 2 (disorder) 826 4 0.7159302659372846 C0268251 Gaucher Disease, Type 3 (disorder) 826 4 0.7159302659372846 C1961835 Gaucher Disease, Type 1 826 4 0.6642145557796146 C0002066 Alkaptonuria 815 4 0.9996849832257481 C0028817 Ochronosis 815 4 0.9998949928170674 C0410607 Intervertebral disk calcification 815 4 0.9998949928170674 C2931645 Ochronosis, hereditary 815 4 0.9998949928170674 C0751602 Hereditary Autosomal Dominant Spastic Paraplegia 810 4 0.755851744518405 C0751603 Autosomal Recessive Hereditary Spastic Paraplegia 810 4 0.8621602313639043 C0751604 Hereditary X-Linked Recessive Spastic Paraplegia 810 4 0.8747992203409081 C0751605 X-Linked, Spastic Paraplegia, Hereditary 810 4 0.8915916119142342 C0007361 Cat-Scratch Disease 809 4 0.6521313837379219 C0026916 Mycobacterium avium-intracellulare Infection 809 4 0.874268558118369 C1854467 Spastic paraplegia 13, autosomal dominant 809 4 0.874268558118369 C2677109 Leukodystrophy, Hypomyelinating, 4 809 4 0.874268558118369 C0152205 Alternating esotropia 778 4 0.6668195784166747 C0220693 Microcephaly autosomal dominant 778 4 0.508766653282791 C1970021 Congenital Disorder Of Glycosylation, Type IIH 778 4 0.11206306253719091 C2751829 Ventricular Fibrillation, Paroxysmal Familial, 2 778 4 0.508766653282791 C0154141 Thyrotoxicosis with toxic single thyroid nodule 777 4 0.7790903844121302 C0154143 Toxic multinodular goiter 777 4 0.761212308025839 C0268446 Thyrotoxic periodic paralysis 777 4 0.7634430126158891 C4021553 Periodic hypokalemic paresis 777 4 0.16836888503759684 C0340486 Induced ventricular tachycardia 763 4 0.9689497285955772 C1832931 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 763 4 0.9689497285955772 C2930902 Bidirectional tachycardia 763 4 0.9689497285955772 C4053736 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 763 4 0.8604421250736728 C1865020 Short QT Syndrome 1 760 4 0.7345661091043183 C2348199 Short Qt Syndrome 760 4 0.3429354255280948 C3150943 Long Qt Syndrome 2 760 4 0.629841526188619 C3279093 LONG QT SYNDROME 2/9, DIGENIC 760 4 0.7046718288484356 C0022387 Jervell-Lange Nielsen Syndrome 759 4 0.5761349352614648 C1837014 Atrial Fibrillation, Familial, 3 759 4 0.798846914699777 C1865019 SHORT QT SYNDROME 2 (disorder) 759 4 0.8150280012335906 C3277700 LONG QT SYNDROME 1/2, DIGENIC (disorder) 759 4 0.5600704718799824 C0012714 Disorder of copper metabolism 757 4 0.9584766650423687 C0022716 Menkes Kinky Hair Syndrome 757 4 0.8815165361020671 C1096660 Ehlers-Danlos syndrome type IX 757 4 0.9584766650423687 C1845359 Spinal Muscular Atrophy, Distal, X-Linked 3 757 4 0.9584766650423687 C0023510 Leukocyte Disorders 754 4 0.8708959682898822 C0242597 Leukocyte-Adhesion Deficiency Syndrome 754 4 0.8708959682898822 C0272187 Congenital leukocyte adherence deficiency 754 4 0.5926966934749797 C0398738 Leukocyte adhesion deficiency type 1 754 4 0.8923126575533546 C0022573 Keratoconjunctivitis 749 4 0.1521276262482928 C0026755 Multiple Carboxylase Deficiency 749 4 0.6697825576105408 C0268581 Holocarboxylase Synthetase Deficiency 749 4 0.6802972279596962 C1396126 Perioral eczema 749 4 0.13736858027086324 C0031046 Pericarditis 737 4 0.7652398869788269 C0031048 Pericarditis, Constrictive 737 4 0.948447210824893 C1167732 Pleuropericarditis 737 4 0.948447210824893 C1859690 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME 737 4 0.948447210824893 C0265286 Dyggve-Melchior-Clausen syndrome 725 4 0.9741038907524329 C1844654 X-linked Dyggve-Melchior-Clausen syndrome 725 4 0.9743204422283367 C1846431 SMITH-MCCORT DYSPLASIA 725 4 0.9277174229055251 C3888088 SMITH-MCCORT DYSPLASIA 1 725 4 0.9702319108165626 C0006664 Calcinosis cutis 716 4 0.9950932510684533 C0030779 Pelger-Huet Anomaly 716 4 0.9853559035665566 C0748397 Reynolds syndrome 716 4 0.9950932510684533 C2931048 HEM dysplasia 716 4 0.9950932510684533 C0151747 Renal tubular disorder 714 4 0.6564438927056846 C0268079 Hyperphosphaturia 714 4 0.309887110871443 C0268237 Cytochrome-c Oxidase Deficiency 714 4 0.398662979694803 C0268709 Renal tubular defect 714 4 0.6568289259015833 C0015624 Fanconi Syndrome 713 4 0.7817049052144522 C0341703 Adult Fanconi syndrome 713 4 0.5929197991774396 C1857395 De Toni-Debre-Fanconi Syndrome 713 4 0.7832901378051426 C3495427 Fanconi-Bickel Syndrome 713 4 0.7179956194122243 C3150674 CHROMOSOME 15q24 DELETION SYNDROME 708 4 0.8389773239052534 C3150675 CHROMOSOME 15q24 DUPLICATION SYNDROME 708 4 0.8389773239052534 C4025697 Gastrointestinal atresia 708 4 0.5941201036686057 C4310804 WITTEVEEN-KOLK SYNDROME 708 4 0.8389773239052534 C0263580 Ichthyosis hystrix 696 4 0.8742152361227875 C1833030 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC 696 4 0.7013109752372219 C1840296 Ichthyosis hystrix, Curth Macklin type 696 4 0.8742152361227875 C2931123 Keratosis palmoplantaris striata 3 696 4 0.8742152361227875 C0022584 Keratoderma, Palmoplantar, Diffuse 695 4 0.09424778588427414 C1721006 Keratoderma, Palmoplantar, Epidermolytic 695 4 0.623962376120029 C2931735 Epidermolytic palmoplantar keratoderma Vorner type 695 4 0.667479574742936 C2936837 Keratosis of Greither 695 4 0.4807488371805247 C0205713 Roussy-Levy Syndrome (disorder) 687 4 0.2915219647932887 C0270911 Charcot-Marie-Tooth Disease, Type Ia (disorder) 687 4 0.006983798253246344 C0270912 Charcot-Marie-Tooth Disease, Type Ib 687 4 0.35279613159050127 C0751036 Hereditary Motor and Sensory Neuropathy Type I 687 4 0.6636392316688107 C0175697 Van der Woude syndrome 683 4 0.5599311730720038 C0265259 Popliteal pterygium syndrome 683 4 0.4512367366732833 C1302999 Ankyloblepharon filiforme adnatum 683 4 -0.24565826815161929 C1847604 Van der Woude syndrome 2 683 4 0.15159458526721256 C1861451 Stormorken Syndrome 681 4 0.13507675351329232 C2748557 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 681 4 0.3612971249830682 C4011726 MYOPATHY, TUBULAR AGGREGATE, 1 681 4 0.587886115917754 C4015624 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES 681 4 0.19107546263873001 C0013369 Dysentery 674 4 0.5565012010686669 C0022951 Lactose Intolerance 674 4 0.7025119322424018 C0268181 Lactose Intolerance, Adult Type 674 4 0.5605340902219862 C1857231 LACTASE PERSISTENCE 674 4 0.44101976176582613 C0014057 Japanese Encephalitis 670 4 0.12529101004639417 C0037354 Smallpox 670 4 0.25178701965340117 C0043395 Yellow Fever 670 4 0.2715412910380418 C1096184 West Nile viral infection 670 4 0.14120861033824855 C0155118 Corneal degeneration 668 4 0.8857334165912198 C0271288 Corneal guttata 668 4 0.12529869842568003 C1850959 Corneal dystrophy, Fuchs\' endothelial, 1 668 4 0.8857334165912198 C1852795 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 668 4 0.8857334165912198 C0010308 Congenital Hypothyroidism 662 4 0.3867830724884347 C0342200 Endemic Cretinism 662 4 0.39873468870705725 C0917799 Hypersomnia 662 4 -0.061700545760230874 C1578691 Myxedema, Congenital 662 4 0.14577290497149853 C0342883 Cholesteryl Ester Transfer Protein Deficiency 660 4 0.526896835744397 C0542037 Hypotriglyceridemia 660 4 0.49505692326805123 C3149462 HYPERALPHALIPOPROTEINEMIA 1 660 4 -0.10585370600871524 C3151467 Apolipoprotein C-III Deficiency 660 4 0.22375473325642664 C0406810 Carney Complex 656 4 0.966104924710435 C1854540 Carney Complex, Type 2 656 4 0.9882890821196422 C1864846 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) 656 4 0.9882890821196422 C2607929 Carney Complex, Type 1 656 4 0.9878076211338328 C0750384 Coumarin Resistance 653 4 0.5655647718237956 C1843832 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 653 4 0.619685637942766 C2608079 WARFARIN SENSITIVITY (disorder) 653 4 0.49556531633970047 C2675747 Coumarin Sensitivity 653 4 0.619685637942766 C0030591 Paroxysmal ventricular tachycardia 646 4 0.6412214985130897 C1832600 Naxos disease 646 4 0.4094582303008028 C1969081 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 646 4 0.41886624742263523 C2677105 Inflammatory Bowel Disease 12 646 4 -0.02988571523685779 C0025306 Meningococcemia 643 4 0.2591458046500854 C0877430 Asthma chronic 643 4 0.704724009687437 C1096458 Vascular occlusion 643 4 0.704724009687437 C2750067 Plasminogen Activator Inhibitor-1 Deficiency 643 4 0.704724009687437 C0019069 Hemophilia A 640 4 -0.017890602316170064 C0272322 Severe hereditary factor VIII deficiency disease 640 4 0.8052338115339882 C0272324 Mild hereditary factor VIII deficiency disease 640 4 0.8046019085659679 C0272325 Factor 8 deficiency, acquired 640 4 0.800271567833889 C0154835 Retinal telangiectasia 637 4 0.42678762824667527 C0917796 Optic Atrophy, Hereditary, Leber 637 4 0.4793016146834733 C2931092 Maternally Inherited Leigh Syndrome 637 4 0.12136161309338239 C3887709 Optic Neuropathy 637 4 0.3628349824329477 C0014173 Endometrial Hyperplasia 631 4 0.9747354035273748 C0349578 Complex Endometrial Hyperplasia 631 4 0.9901067057039784 C0349579 Atypical Endometrial Hyperplasia 631 4 0.9911635507461023 C0456483 Simple Endometrial Hyperplasia 631 4 0.9901067057039784 C0036659 Sensation Disorders 617 4 0.9948185555107496 C0152027 Sensory Disorders 617 4 0.9948185555107496 C0751497 Special Senses Disorders 617 4 0.9948185555107496 C1853250 SPINOCEREBELLAR ATAXIA 23 617 4 0.984548938512703 C1843164 Charcot-Marie-Tooth disease, demyelinating, Type 1F 606 4 0.42857409159930243 C1843225 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 606 4 0.4078340961192487 C1843228 Hypotrophy of the small hand muscles 606 4 0.644882000942607 C1864871 Chromosome 17q21.31 Deletion Syndrome 606 4 0.22390388909385858 C1839333 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 593 4 -0.03684790715828962 C1970200 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 593 4 0.0624649959380764 C3150988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 593 4 -0.1953277045552747 C3554316 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 593 4 0.20570769240111966 C0399368 Amelogenesis Imperfecta, Type IB 585 4 0.5256498535039031 C2673923 Amelogenesis Imperfecta, Type Ic 585 4 0.5256498535039031 C3553830 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 585 4 0.1924090306536971 C3665628 Hypomineralization of enamel of tooth 585 4 0.16971919262974824 C1855432 Mandibulofacial Dysostosis with Mental Deficiency 575 4 1.0 C1858806 CONE-ROD DYSTROPHY 3 (disorder) 575 4 1.0 C1866422 RETINITIS PIGMENTOSA 19 575 4 1.0 C3495438 Macular Degeneration, Age-Related, 2 575 4 1.0 C0239777 Color Blindness, Green 566 4 0.9983506950080441 C0242225 Color blindness 566 4 0.9950754269291268 C0751042 Color Blindness, Inherited 566 4 0.9983506950080441 C0751043 Monochromatopsia 566 4 0.9983506950080441 C0019625 Sinus histiocytosis 564 4 1.0 C0235592 Cervical lymphadenopathy 564 4 1.0 C0432262 Dysosteosclerosis 564 4 1.0 C1864445 Histiocytosis with joint contractures and sensorineural deafness 564 4 1.0 C0432347 Uncombable hair syndrome 548 4 0.8035445441555604 C4020850 Generalized trichodysplasia 548 4 0.8792453047085022 C4025700 Trichodysplasia 548 4 0.8792453047085022 C4310649 UNCOMBABLE HAIR SYNDROME 2 548 4 0.6533279180232886 C3150733 LONG QT SYNDROME 13 547 4 1.0 C3150933 HYPERALDOSTERONISM, FAMILIAL, TYPE III 547 4 1.0 C4020742 Familial primary hyperaldosteronism type 2 547 4 1.0 C4023208 Glucocortocoid-insensitive primary hyperaldosteronism 547 4 1.0 C0040412 Fissured tongue 541 4 0.38932353203088294 C2676500 COWDEN-LIKE SYNDROME (disorder) 541 4 0.5389857094951794 C3272802 Hamartomatous polyposis 541 4 0.49314407207659977 C4021849 Conjunctival hamartoma 541 4 0.5685941207687314 C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome 540 4 0.10474032977052136 C1847319 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 540 4 0.5438111202472165 C1858592 Carney Triad 540 4 0.24373366452987683 C4025693 Hypertension associated with pheochromocytoma 540 4 0.535271664386681 C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 513 4 0.6020080495063018 C3150417 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 513 4 0.8973661853444033 C3151519 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 513 4 0.8472780013808121 C4310704 RETINITIS PIGMENTOSA 76 513 4 0.8973661853444033 C0268354 De Barsy syndrome 498 4 1.0 C1832669 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 498 4 1.0 C4225268 CUTIS LAXA, AUTOSOMAL DOMINANT 3 498 4 1.0 C4225272 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 498 4 1.0 C0002949 Aneurysm, Dissecting 495 4 0.4190083652153722 C1836635 Loeys-Dietz Aortic Aneurysm Syndrome 495 4 0.5807935621083864 C2697932 Loeys-Dietz Syndrome 495 4 0.626170220235011 C2697933 Loeys-Dietz Syndrome Type 1 495 4 0.3284215457493587 C0013405 Dyspnea, Paroxysmal 494 4 0.4382772547496848 C0392775 Cystic medial necrosis of aorta 494 4 0.713618069507514 C1851504 Aortic aneurysm, familial thoracic 4 494 4 0.3048062818948684 C4022878 Descending aortic dissection 494 4 0.4382772547496848 C0220769 FG syndrome 490 4 -0.19322498888243209 C1845546 FG SYNDROME 4 (disorder) 490 4 0.5026408659875414 C1845567 FG SYNDROME 3 490 4 0.8520462774939725 C1845902 FG SYNDROME 2 490 4 0.3975884093134954 C0029118 Opportunistic Infections 487 4 0.44372825067254085 C0085315 Toxoplasmosis, Cerebral 487 4 0.7452767268722191 C0398689 Hyper-IgM Immunodeficiency Syndrome, Type 1 487 4 0.7676232667375996 C1863767 Light Fixation Seizure Syndrome 487 4 0.34036162480314885 C0270246 Meconium plug syndrome 484 4 0.8684151328108605 C0398349 Distal intestinal obstruction syndrome 484 4 -0.05192123239712883 C2939175 Meconium ileus 484 4 0.8993817382526215 C3553270 DIARRHEA 6 484 4 0.8684151328108605 C0267937 Acute recurrent pancreatitis 481 4 0.6551856257743953 C0341471 Idiopathic chronic pancreatitis 481 4 0.6557646647913911 C0747198 pancreatitis idiopathic 481 4 0.24422481763496753 C2609129 Autoimmune pancreatitis 481 4 0.4201820765467514 C0341862 Hypothalamic amenorrhea 479 4 1.0 C3554224 LEPTIN DEFICIENCY OR DYSFUNCTION 479 4 1.0 C3824872 Obesity in animals 479 4 1.0 C3838754 Congenital leptin deficiency 479 4 1.0 C0020497 Cortical Congenital Hyperostosis 461 4 1.0 C1852924 OI-EDS Combined Syndrome 461 4 1.0 C1859069 Brittle Bone Disorder 461 4 1.0 C4303786 Ehlers-Danlos syndrome vascular-like type 461 4 1.0 C0268335 Ehlers-Danlos syndrome type 1 457 4 0.5097784985631036 C0268336 Ehlers-Danlos syndrome type 2 457 4 0.6571812235074784 C3840085 Disorder of Achilles tendon 457 4 0.39971956502070516 C4225429 Ehlers-Danlos syndrome classic type 457 4 0.42484294501622777 C1837187 MACULAR DEGENERATION, AGE-RELATED, 3 453 4 0.9332428068483192 C2931134 Cutis laxa, recessive 453 4 0.7985504056978433 C3665335 Cutis laxa, autosomal recessive 453 4 0.9332428068483192 C4225406 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION 453 4 0.9332428068483192 C0014836 Escherichia coli Infections 436 4 0.42148715921281665 C1096063 Drug Resistant Epilepsy 436 4 0.5351995344085753 C1861502 COLCHICINE RESISTANCE 436 4 0.7518401423529796 C2677101 Inflammatory Bowel Disease 13 436 4 0.7518401423529796 C0019114 Hemosiderosis 428 4 0.886579780043549 C0268059 Neonatal hemochromatosis 428 4 0.886579780043549 C1867968 Porphyria Cutanea Tarda, Type I 428 4 0.6884321998706283 C3469186 HEMOCHROMATOSIS, TYPE 1 428 4 0.5059919153578046 C0029421 Osteochondritis Dissecans 425 4 0.6118752508401556 C0038012 Spondylitis 425 4 0.8730318364465777 C2748544 Spondyloepimetaphyseal Dysplasia, Aggrecan Type 425 4 0.8730318364465777 C3665488 Familial Osteochondritis Dissecans 425 4 0.8730318364465777 C0750145 Occlusive vascular disease 416 4 0.9870622703220427 C1306889 Peripheral arterial occlusive disease 416 4 0.9956471897164249 C4025272 Peripheral arterial stenosis 416 4 0.9956471897164249 C4531019 Arterial disease of legs 416 4 0.9956471897164249 C0432242 Desbuquois syndrome 411 4 0.6340681843813915 C3278482 DESBUQUOIS DYSPLASIA, KIM VARIANT 411 4 0.5918089323106626 C4012146 DESBUQUOIS DYSPLASIA 1 411 4 0.5918089323106626 C4014294 DESBUQUOIS DYSPLASIA 2 411 4 -0.29884429387514977 C0021100 Bullous impetigo 398 4 0.6195026896156528 C1838099 ABCD syndrome 398 4 0.6195026896156528 C1848519 WAARDENBURG SYNDROME, TYPE 4A 398 4 0.5927490122715962 C3266898 Waardenburg Syndrome 398 4 -0.15530663933950462 C1859728 Coronary Sclerosis, Medial, of Infancy 391 4 0.8578268889014156 C1865343 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 391 4 0.7720249593661535 C2750078 Hypophosphatemic Rickets, Autosomal Recessive, 2 391 4 0.7402068407264089 C3809781 Cole disease 391 4 0.8578268889014156 C0796093 Odontoonychodermal dysplasia 380 4 1.0 C1835492 TOOTH AGENESIS, SELECTIVE, 4 (disorder) 380 4 1.0 C1835493 Succedaneous Teeth, Agenesis Of 380 4 1.0 C1857069 SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 380 4 1.0 C1837091 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 353 4 0.8744625288866678 C1853949 MYASTHENIA, FAMILIAL INFANTILE, 1 353 4 0.9667328529971798 C4225369 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 353 4 0.9667328529971798 C4225413 MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 353 4 0.9667328529971798 C2673759 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 349 4 0.9212275477673364 C2673760 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 349 4 0.893680927092244 C2673761 DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 349 4 0.8494363596187566 C3665333 Keratitis-Ichthyosis-Deafness Syndrome 349 4 0.7237192186662726 C4011788 Behavioral variant of frontotemporal dementia 347 4 0.7960292379557252 C4021584 Frontotemporal cerebral atrophy 347 4 0.7000467182622997 C4024936 Temporal cortical atrophy 347 4 0.7287840688620689 C4024956 Grammar-specific speech disorder 347 4 0.7900381285986946 C0270920 Supranuclear paralysis 346 4 0.7816267884283268 C0338460 Argyrophilic grain disease 346 4 0.5149372574107562 C0393570 Corticobasal degeneration 346 4 0.7499873031211506 C1850077 Supranuclear Palsy, Progressive, 1, Atypical 346 4 0.7816267884283268 C0477548 Other chondrocalcinosis 337 4 0.6929768292601719 C1853256 Hyperostosis-hyperphosphatemia syndrome 337 4 0.36222361567655775 C1876187 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 337 4 0.37767540826615736 C2931105 Hypercalciuria, childhood idiopathic 337 4 0.2494154124977662 C0038833 Superior Vena Cava Syndrome 333 4 1.0 C0038834 Superior Vena Cava Thrombosis 333 4 1.0 C0267941 Pancreatitis, Acute Necrotizing 333 4 1.0 C3150644 BRACHYDACTYLY, TYPE E2 333 4 1.0 C0009952 Febrile Convulsions 324 4 0.6548578885751679 C0149886 Seizure, Febrile, Simple 324 4 0.7227548946665688 C0751057 Seizure, Febrile, Complex 324 4 0.7220998107108489 C3502809 Generalized Epilepsy with Febrile Seizures Plus 324 4 0.2901928195760584 C0205858 General Paralysis 316 4 0.4336675050527473 C3280415 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 316 4 0.7149075838121606 C3281191 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 316 4 0.6351962755291004 C4310728 SEIZURES, BENIGN FAMILIAL INFANTILE, 5 316 4 0.7149075838121606 C0014804 Erythromelalgia 295 4 0.9798909948940998 C1855739 Indifference to Pain, Congenital, Autosomal Recessive 295 4 0.9798909948940998 C3178789 Widespread Chronic Pain 295 4 0.9681508168503132 C3276706 Small Fiber Neuropathy 295 4 0.953713000278888 C0085413 Polycystic Kidney, Autosomal Dominant 287 4 0.25835982100767013 C0268800 Simple renal cyst 287 4 0.27754182989834264 C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease 287 4 0.5643170146788113 C2751306 Polycystic kidney disease, type 2 287 4 0.7103520152344922 C0010709 Cyst 286 4 0.314153182593162 C0334054 cystic disease 286 4 0.43401777605374775 C1868148 Potter Type III Polycystic Kidney Disease 286 4 0.7202711540267214 C3149841 POLYCYSTIC KIDNEY DISEASE 1 286 4 0.6945858581096166 C0950121 Denys-Drash Syndrome 278 4 0.9961134680692632 C0950122 Frasier Syndrome 278 4 0.9917435815070899 C1837026 MEACHAM SYNDROME (disorder) 278 4 0.9969524000045875 C3151568 NEPHROTIC SYNDROME, TYPE 4 278 4 0.9969524000045875 C1860042 Antley-Bixler Syndrome with Disordered Steroidogenesis 269 4 0.7154671483785482 C2350233 Antley-Bixler Syndrome Phenotype 269 4 0.5628418633883937 C2936791 Antley-Bixler Syndrome, Autosomal Dominant 269 4 -0.6364318420219457 C3150099 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 269 4 0.2511528835159662 C0268355 Cutis Laxa, Autosomal Recessive, Type IIA 262 4 0.7733988709303551 C0406587 Wrinkly skin syndrome 262 4 0.4200493140061857 C4479387 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 262 4 0.6186581197395332 C4479409 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 262 4 0.6186581197395332 C1838100 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 261 4 0.9914448870317187 C1840646 Hepatic Adenomas, Familial 261 4 0.997160994457789 C2675866 DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 261 4 0.997160994457789 C4303475 Hyperinsulinism due to HNF1A deficiency 261 4 0.997160994457789 C0586358 Biliary Intraepithelial Neoplasia 259 4 0.859722580419669 C1838329 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 259 4 0.8009035860753763 C1860991 NOONAN SYNDROME 3 259 4 0.7966027159865176 C3809005 CARDIOFACIOCUTANEOUS SYNDROME 2 259 4 0.7421456764536136 C0268124 Adenosine deaminase deficiency 243 4 0.9961400504485656 C0392607 Severe combined immunodeficiency due to adenosine deaminase deficiency 243 4 0.989498869051779 C1863236 SCID Due to ADA Deficiency, Early-Onset 243 4 0.9948941602845729 C1863239 Partial adenosine deaminase deficiency 243 4 0.9948941602845729 C0265216 X-linked hydrocephalus syndrome 237 4 0.9796833989309816 C0795953 MASA SYNDROME (disorder) 237 4 0.9929893597339878 C1839909 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 237 4 0.9929106409109929 C1844006 Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction 237 4 0.9929106409109929 C0085702 Monocytosis 211 4 0.12792032357732802 C0272183 Qualitative abnormality of granulocyte 211 4 0.7687172741289907 C2675526 Neutropenia, Severe Congenital, Autosomal Recessive 4 211 4 0.7926872639946244 C2751630 Dursun Syndrome 211 4 0.7173470483734147 C0031024 Suppurative Periapical Periodontitis 210 4 0.8786183589438135 C0221023 Cyclic neutropenia 210 4 0.8717659801155617 C1859966 Neutropenia, Severe Congenital, Autosomal Dominant 1 210 4 0.4452213445746989 C3671688 Cyclic Hematopoesis 210 4 0.8786183589438135 C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) 208 4 0.7887256405736275 C3711385 Deoxyguanosine Kinase Deficiency 208 4 0.202928994485112 C4310733 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 208 4 0.8277342624068593 C4310735 PORTAL HYPERTENSION, NONCIRRHOTIC 208 4 0.8277342624068593 C0024291 Lymphohistiocytosis, Hemophagocytic 198 4 0.35312140083346233 C0398794 Hypopigmentation-immunodeficiency disease 198 4 0.3739540744581038 C1868679 GRISCELLI SYNDROME, TYPE 2 198 4 0.7391870312868701 C3887558 Hemophagocytic Syndrome 198 4 0.6268040040887832 C0451720 Nephrotic syndrome, focal and segmental glomerular lesions 194 4 1.0 C2902887 Nephrotic syndrome with focal and segmental hyalinosis 194 4 1.0 C2902888 Nephrotic syndrome with focal and segmental sclerosis 194 4 1.0 C2902889 Nephrotic syndrome with focal glomerulonephritis 194 4 1.0 C0085278 Antiphospholipid Syndrome 189 4 0.6552586323302864 C1395512 Placental dysfunction 189 4 0.856543739091351 C1836302 Carotid Intimal Medial Thickness 1 189 4 0.856543739091351 C3875007 Nodular thyroid disease 189 4 0.856543739091351 C0271694 Familial partial lipodystrophy 188 4 0.9233690747837066 C1720859 Familial Partial Lipodystrophy, Type 1 188 4 0.9276673579257069 C1720860 Familial Partial Lipodystrophy, Type 2 188 4 0.7822267228927892 C1720861 Familial Partial Lipodystrophy, Type 3 188 4 0.6894463198291556 C0022682 Kienbock Disease 185 4 0.9617109749415937 C0024950 Maxillary Diseases 185 4 0.9617109749415937 C1850155 TORG-WINCHESTER SYNDROME 185 4 0.8904162511903769 C4024732 Ankylosis of feet small joints 185 4 0.9617109749415937 C0011644 Scleroderma 182 4 0.6767100101356879 C0036420 Localized scleroderma 182 4 0.8924031484606498 C0263409 Linear Scleroderma 182 4 0.8908365329532832 C1527383 Morphea 182 4 0.8908365329532832 C0152458 Leukocoria 172 4 0.598085851562855 C1327916 REVESZ SYNDROME (disorder) 172 4 0.30082344945229544 C3151302 Chromosome 13q14 deletion syndrome 172 4 0.06853308659889465 C3151445 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 172 4 0.30082344945229544 C1260386 Glucocorticoid-remediable aldosteronism 158 4 0.8397479817803102 C4020743 Glucocorticoid-remediable familial primary aldosteronism 158 4 0.9695593994273085 C4020744 Familial primary hyperaldosteronism type 1 158 4 0.9695593994273085 C4023209 Dexamethasone-suppresible primary hyperaldosteronism 158 4 0.9695593994273085 C0007274 Carotid Artery Thrombosis 152 4 1.0 C0750988 Common Carotid Artery Thrombosis 152 4 1.0 C0750989 External Carotid Artery Thrombosis 152 4 1.0 C0750990 Internal Carotid Artery Thrombosis 152 4 1.0 C0040015 Thrombasthenia 151 4 0.7241196326532091 C0477317 Other primary thrombocytopenia 151 4 0.5454733586788403 C1861195 Glanzmann Thrombasthenia, Autosomal Dominant 151 4 0.7572145657584199 C3179396 Glanzmann Thrombasthenia, Type A 151 4 0.7551898339705112 C0007684 Central Nervous System Infection 132 4 0.8961309741885332 C0041318 Tuberculosis, Meningeal 132 4 0.6727742748514777 C0497299 meningitis/encephalitis 132 4 0.8961309741885334 C0948264 Neuroborreliosis 132 4 0.8961309741885332 C0020192 Hyaline Membrane Disease 118 4 0.5080246503896813 C0035220 Respiratory Distress Syndrome, Newborn 118 4 0.5658529753029062 C0238378 Desquamative interstitial pneumonia 118 4 0.15987212213255061 C0852283 Respiratory Distress Syndrome 118 4 0.65512356634232 C0001306 Acute alcoholic liver disease 116 4 0.7883071854459298 C0276926 Schistosoma hematobium infection 116 4 0.7930542201453316 C1290344 Nonspecific interstitial pneumonia 116 4 -0.003977874222303178 C3874381 Childhood nephrotic syndrome 116 4 0.7930542201453316 C0751757 Hypersomnolence, Idiopathic 108 4 1.0 C1834372 Narcolepsy 1 108 4 1.0 C4025713 Paroxysmal drowsiness 108 4 1.0 C4543926 Narcolepsy type 1 108 4 1.0 C0733682 Hypophosphatemic Rickets, X-Linked Dominant 98 4 0.8337381495998483 C1845168 Hypophosphatemic Rickets, X-Linked Recessive 98 4 0.2865383862997202 C3536984 Vitamin D-Resistant Rickets, X-Linked 98 4 0.8823162383146065 C3540852 Rickets, X-Linked Hypophosphatemic 98 4 0.8712321537120127 C0021818 Intervertebral Disk Displacement 91 4 0.9002539365630688 C0265235 Marshall syndrome 91 4 0.9566780682623128 C1858084 STICKLER SYNDROME, TYPE II (disorder) 91 4 0.9329235276945852 C3278138 FIBROCHONDROGENESIS 1 91 4 0.9566780682623128 C0268390 Muckle-Wells Syndrome 90 4 0.9370969390800725 C0343068 Familial cold urticaria 90 4 0.9381121495163054 C0409818 Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 90 4 0.9369937232101854 C2316212 Cryopyrin-Associated Periodic Syndromes 90 4 0.8984410997373868 C0162668 Megaconial Myopathies 79 4 0.8236839081654147 C0162669 Pleoconial Myopathies 79 4 0.8236839081654147 C0162670 Mitochondrial Myopathies 79 4 0.6252241160678531 C0949496 Luft Disease 79 4 0.8236839081654147 C0011636 Dermatophytosis 78 4 0.9010049904006909 C0040247 Tinea 78 4 0.9010049904006909 C1262313 Invasive Fungal Infections 78 4 0.7059847213506212 C1859353 Candidiasis, Familial, 2 78 4 0.8498195871044587 C0017531 Angiolymphoid hyperplasia 71 4 0.7836456598782989 C0085663 Plasmacytosis 71 4 0.5640227428535829 C0854706 Neonatal infection 71 4 0.7879726612329239 C1304456 Congo hemorrhagic fever 71 4 0.7879726612329239 C0085655 Polymyositis 59 4 0.8582276889857904 C0263984 Polymyositis Ossificans 59 4 0.8700067079694199 C0343755 HIV Wasting Syndrome 59 4 0.5601254945499557 C0554591 Polymyositis, Idiopathic 59 4 0.8700067079694199 C0022806 Kwashiorkor 54 4 0.8410997792706195 C0151482 Megaloblastic anemia due to folate deficiency 54 4 0.8410997792706195 C0744483 growth hormone treatment 54 4 0.4903928473083416 C1837475 Insulin-Like Growth Factor I Deficiency 54 4 0.8488047513870637 C0271561 Somatotropin deficiency 52 4 0.6066731568781064 C0271567 Isolated Growth Hormone Deficiency, Type II 52 4 0.5585647731485216 C1849779 Kowarski syndrome 52 4 0.6120054610502512 C2748571 Isolated Growth Hormone Deficiency, Type IB 52 4 0.548848300913015 C0751912 Paraneoplastic Encephalomyelitis 51 4 0.7200259189531595 C1868139 Medullary cystic kidney disease 1 51 4 0.8460403869251556 C2919861 Medullary cystic kidney disease type 1 51 4 -0.03064740386634348 C4025730 Renal cortical atrophy 51 4 0.8209579156411062 C1838577 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 44 4 0.9989343617156948 C1857813 Macular Degeneration, Age-Related, 7 44 4 0.9996445193767856 C4225211 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 44 4 0.9996445193767856 C4293701 Status cribrosum 44 4 0.9996445193767856 C0007781 Intracranial Embolism and Thrombosis 23 4 0.9999999999999991 C0149649 Cholesterol Embolism 23 4 0.9999999999999991 C0877855 Cerebral Embolism and Thrombosis 23 4 0.9999999999999991 C0936247 Brain Embolism and Thrombosis 23 4 0.9999999999999991 C0037198 Sinus Thrombosis, Intracranial 19 4 0.9939146892934239 C0751500 Petrous Sinus Thrombophlebitis 19 4 0.9979622675199792 C0751501 Intracranial Sinus Thrombophlebitis 19 4 0.9979622675199792 C0751502 Petrous Sinus Thrombosis 19 4 0.9979622675199792 C1861481 Stickler syndrome, type 3 11 4 0.9986611192663502 C1864746 Deafness, Autosomal Recessive 53 11 4 0.9986611192663502 C1866095 Deafness, Autosomal Dominant 13 11 4 0.9959982122348776 C3281128 FIBROCHONDROGENESIS 2 11 4 0.9986611192663502 C0038557 Submandibular Gland Diseases 7 4 1.0 C1866075 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 7 4 1.0 C3888104 Glomerulopathy with fibronectin deposits 7 4 1.0 C4025275 Generalized distal tubular acidosis 7 4 1.0 C1836206 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction 2197 3 1.0 C1843758 Camptosynpolydactyly, Complex 2197 3 1.0 C1861553 Split-Hand-Foot Malformation With Long Bone Deficiency 1 2197 3 1.0 C4225296 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 2188 3 1.0 C4225432 CHROMOSOME 2p25.3 DUPLICATION SYNDROME 2188 3 1.0 C4225433 CHROMOSOME 2p25.3 DELETION SYNDROME 2188 3 1.0 C0085417 Epilepsy, Complex Partial 2187 3 1.0 C0751640 Cryptogenic Partial Complex Epilepsy 2187 3 1.0 C0751641 Epilepsy, Symptomatic, Partial Complex 2187 3 1.0 C0749398 Recurrent thromboembolic disease 2170 3 1.0 C2751090 Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency 2170 3 1.0 C2751091 Thrombophilia Due To Elevated Histidine-Rich Glycoprotein 2170 3 1.0 C0795942 Fitzsimmons-Guilbert syndrome 2164 3 1.0 C1865644 Plantar Lipomatosis, Unusual Facies, and Developmental Delay 2164 3 1.0 C4310784 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 2164 3 1.0 C0795902 Coloboma, cleft lip-palate and mental retardation syndrome 2160 3 1.0 C1852750 Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation 2160 3 1.0 C3805432 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 2160 3 1.0 C0038041 Spotted Fever Group Rickettsiosis 2152 3 1.0 C0041471 TYPHUS 2152 3 1.0 C0343758 Typhus group rickettsial disease 2152 3 1.0 C1721005 Leukokeratosis, Hereditary Mucosal 2146 3 0.679531899621618 C4011926 WHITE SPONGE NEVUS 1 2146 3 0.4374897000674704 C4014321 WHITE SPONGE NEVUS 2 2146 3 0.24201997154868293 C1844830 CLEFT PALATE, X-LINKED 2135 3 0.989906112369607 C1844831 Cleft Palate with Ankyloglossia 2135 3 0.9769731530823363 C1844862 Abruzzo Erickson syndrome 2135 3 0.989906112369607 C0393770 Delayed Sleep Phase Syndrome 2132 3 0.6821691427057723 C0751758 Advanced Sleep Phase Syndrome 2132 3 0.7002555714487356 C4225266 IMMUNODEFICIENCY 42 2132 3 0.34023871987494253 C0342765 D-Glyceric aciduria 2127 3 1.0 C1291386 D-glycericacidemia 2127 3 1.0 C3887877 Deficiency of glycerate kinase 2127 3 1.0 C0035613 Rift Valley Fever 2115 3 0.22044627714701656 C0483368 Human anaplasmosis due to Anaplasma phagocytophilum 2115 3 0.23389454682244462 C3151068 RETINITIS PIGMENTOSA 44 2115 3 0.05352557818713353 C1857588 Amaurosis hypertrichosis 2113 3 1.0 C2931074 Cone rod dystrophy amelogenesis imperfecta 2113 3 1.0 C3495589 Jalili syndrome 2113 3 1.0 C0265246 Townes syndrome 2096 3 0.6538065322694053 C1862683 Townes-Brocks-Branchiootorenal-Like Syndrome 2096 3 0.39916204225302143 C4479534 TOWNES-BROCKS SYNDROME 2 2096 3 0.20090481602953247 C1847973 Persistent Polyclonal B-Cell Lymphocytosis 2095 3 0.9979012783369534 C3554686 IMMUNODEFICIENCY 11 2095 3 0.9989503257576544 C4539957 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 2095 3 0.9989503257576544 C1851943 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 2094 3 0.9448204905250485 C1860315 Whispering dysphonia, hereditary 2094 3 0.9448204905250485 C2676244 Leukodystrophy, Hypomyelinating, 6 2094 3 0.8901666664439845 C0035585 Rickettsia Infections 2091 3 1.0 C0162699 Tick-Borne Infections 2091 3 1.0 C0162700 Tick-Borne Diseases 2091 3 1.0 C0087031 Juvenile-Onset Still Disease 2090 3 0.9838915427265115 C3495559 Juvenile arthritis 2090 3 0.990405738473321 C3714758 Juvenile psoriatic arthritis 2090 3 0.9897060628659469 C0268632 Homocarnosinosis 2089 3 1.0 C3495554 Homocarnosinase deficiency 2089 3 1.0 C3495555 Carnosinemia 2089 3 1.0 C1853942 CITRULLINEMIA, TYPE II, NEONATAL-ONSET 2085 3 0.9983849875296601 C1863844 Adult-onset citrullinemia type 2 2085 3 0.9966980156716021 C1997910 Citrin deficiency 2085 3 0.9983849875296601 C0206744 T-Lymphocytopenia, Idiopathic CD4-Positive 2081 3 1.0 C0242770 Bronchiolitis Obliterans Organizing Pneumonia 2081 3 1.0 C3809768 IMMUNODEFICIENCY 13 2081 3 1.0 C0796200 Wieacker-Wolff syndrome 2078 3 0.6236388647871671 C1839735 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 2078 3 0.6236388647871671 C1844934 Arthrogryposis multiplex congenita, distal, X-linked 2078 3 0.33817167919363617 C0220993 Cystathioninuria 2071 3 0.9836309057418554 C0268616 Gamma-cystathionase deficiency 2071 3 0.9928959136051811 C3495552 Cystathionase Deficiency 2071 3 0.9928959136051811 C0013949 Embryopathies 2069 3 0.8349200754522336 C0015929 Fetal Diseases 2069 3 0.845359548091624 C3150891 COCOON SYNDROME 2069 3 0.7041825049843902 C0341698 Atrophy of kidney 2063 3 0.9800181943609076 C1857512 Temtamy syndrome 2063 3 0.9901807611066603 C2931500 Microphthalmia and mental deficiency 2063 3 0.9901807611066603 C1846367 Spinocerebellar ataxia 19 2061 3 1.0 C2746067 Spinocerebellar ataxia 22 2061 3 1.0 C4225340 BRUGADA SYNDROME 9 2061 3 1.0 C0748903 spinal cord involvement 2059 3 0.5687426290587779 C1970180 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation 2059 3 0.37738193520305036 C3809008 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY 2059 3 0.13177922814717405 C1865818 DYSTONIA 7, TORSION (disorder) 2057 3 0.7992532628028953 C1865819 CERVICAL DYSTONIA, PRIMARY 2057 3 0.7992532628028953 C3538999 DYSTONIA 23 2057 3 0.5685229120141311 C0339383 Choroidal and/or chorioretinal disorder 2051 3 1.0 C1835265 Lymphedema, microcephaly and chorioretinopathy syndrome 2051 3 1.0 C3501946 Microcephaly with Chorioretinopathy, Autosomal Dominant 2051 3 1.0 C0796179 Teebi syndrome 2044 3 0.9465375303530923 C1801950 Opitz-G syndrome, type 2 2044 3 0.8612964299174338 C1838348 Oculomaxillofacial dysostosis 2044 3 0.9514073266713499 C0263874 Degeneration of lumbar intervertebral disc 2042 3 0.48952620884826686 C1850318 Omodysplasia type 1 2042 3 0.7448695135327715 C2936816 Micromelic dysplasia, congenital, with dislocation of radius 2042 3 0.7484425347418621 C0268474 Hydroxykynureninuria 2039 3 1.0 C4024950 Nonprogressive encephalopathy 2039 3 1.0 C4540014 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 2039 3 1.0 C1319466 Barber Say syndrome 2036 3 0.9991897189515591 C1744559 Congenital ectodermal dysplasia of face 2036 3 0.9991897189515591 C1860224 ABLEPHARON-MACROSTOMIA SYNDROME 2036 3 0.9983732340387625 C0796137 3C syndrome 2028 3 0.6431118632938314 C1863704 Spastic paraplegia 8, autosomal dominant 2028 3 0.206179699620193 C4225419 RITSCHER-SCHINZEL SYNDROME 2 2028 3 0.2945519152029828 C0013903 Ellis-Van Creveld Syndrome 2027 3 0.9419605757976818 C0341007 Alveolar ridge abnormality 2027 3 0.9714367058705354 C0457013 Weyers acrofacial dysostosis 2027 3 0.9697547395568983 C0040947 Trichostrongyloidiasis 2025 3 1.0 C3150923 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 2025 3 1.0 C4013764 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 2025 3 1.0 C1857587 Orstavik Lindemann Solberg syndrome 2024 3 1.0 C2931046 Heart defect, tongue hamartoma and polysyndactyly 2024 3 1.0 C3150127 BARDET-BIEDL SYNDROME 15 2024 3 1.0 C0268397 Amyloidosis, Primary Cutaneous 2023 3 0.692295974980399 C0268398 Familial lichen amyloidosis 2023 3 0.33720423666325156 C3151404 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 2023 3 0.6895241324332145 C1864040 Cerebral Cavernous Malformations 3 2022 3 0.41657826329889985 C1864041 CEREBRAL CAVERNOUS MALFORMATIONS 2 2022 3 0.40499955368805524 C2910157 Nonruptured congenital cerebral aneurysm 2022 3 0.7340487778397404 C1842180 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 2020 3 0.6490971967915988 C2675370 Capillary Malformation Without Arteriovenous Malformation 2020 3 0.6934789346297574 C3280296 Microcephaly-capillary malformation syndrome 2020 3 0.2606335725477711 C1841679 Hand foot uterus syndrome 2014 3 0.9991526416879679 C1867801 Preaxial deficiency, postaxial polydactyly and hypospadias 2014 3 0.9995763003557029 C2921112 Septate uterus, complete or partial 2014 3 0.9995763003557029 C0271836 X-linked reduction of thyroxine-binding globulin 2010 3 1.0 C1839141 Thyroxine-Binding Globulin Deficiency 2010 3 1.0 C3711378 Inherited Thyroxine-Binding Globulin Deficiency 2010 3 1.0 C1858278 Charcot-Marie-Tooth disease, Type 4B2 2003 3 0.9900765864492556 C1858279 Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 2003 3 0.9950263226710001 C1858280 Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma 2003 3 0.9950263226710001 C1837728 AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 1988 3 1.0 C1854058 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE 1988 3 1.0 C1866777 Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 1988 3 1.0 C0393555 Pure hereditary spastic paraplegia 1987 3 1.0 C1866855 Spastic paraplegia 4, autosomal dominant 1987 3 1.0 C3711371 Spastic Paraplegia Type 4 1987 3 1.0 C1701940 Pneumonia, Ventilator-Associated 1986 3 0.555053025149717 C1853297 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION 1986 3 0.2279441694321353 C4274079 Bile acid CoA ligase deficiency and defective amidation 1986 3 0.22106619772570074 C1867315 Retinal Nonattachment And Falciform Detachment 1980 3 0.7175213063989154 C1969783 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 1980 3 0.7175213063989154 C3151617 ANTERIOR SEGMENT DYSGENESIS 7 1980 3 0.39625116947742944 C0030508 Parasomnia 1962 3 1.0 C1868570 CHAR SYNDROME 1962 3 1.0 C4284595 PATENT DUCTUS ARTERIOSUS 2 1962 3 1.0 C2675185 Kahrizi Syndrome 1948 3 0.8505774941765676 C3150191 Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities 1948 3 0.9200101486139004 C4317224 Congenital disorder of glycosylation type 1q 1948 3 0.7586903336298874 C0007965 Chediak-Higashi Syndrome 1942 3 0.9988288608060817 C4025196 Recurrent systemic pyogenic infections 1942 3 0.999416310286182 C4304022 Attenuated Chédiak-Higashi syndrome 1942 3 0.999416310286182 C1843791 CARDIOMYOPATHY, DILATED, 1N 1941 3 1.0 C1866008 Muscular Dystrophy, Limb-Girdle, Type 2G 1941 3 1.0 C4225408 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 1941 3 1.0 C1838299 Peroxisome Biogenesis Disorder, Complementation Group 14 1936 3 1.0 C1838300 Peroxisome Biogenesis Disorder, Complementation Group J 1936 3 1.0 C3554002 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) 1936 3 1.0 C0016788 Fucosidase Deficiency Disease 1935 3 1.0 C0268221 Fucosidosis Type I 1935 3 1.0 C0268222 Fucosidosis Type II 1935 3 1.0 C0265343 Jarcho-Levin syndrome 1933 3 0.8964121490662991 C1837549 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 1933 3 0.9213910597659157 C1853296 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 1933 3 0.8823924145580664 C0398746 Gluthathione synthetase deficiency 1928 3 1.0 C0740749 Chronic metabolic acidosis 1928 3 1.0 C1856399 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to 1928 3 1.0 C1841989 Glomerulonephritis sparse hair telangiectases 1927 3 1.0 C1843004 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME 1927 3 1.0 C4317151 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 1927 3 1.0 C0268483 Tyrosinemias 1922 3 0.8342241565315112 C0268490 Tyrosinemia, Type I 1922 3 0.8385035345344841 C1879362 Hypertyrosinemia 1922 3 0.8588806966598388 C1864356 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE 1913 3 0.9943563839217691 C4014690 EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE 1913 3 0.9971774483802369 C4225399 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 1913 3 0.9971774483802369 C1857750 DEAFNESS, AUTOSOMAL RECESSIVE 66 1909 3 0.9924594449072948 C4015542 NEPHRONOPHTHISIS 19 1909 3 0.9924594449072948 C4479344 SCLEROSING CHOLANGITIS, NEONATAL 1909 3 0.9849411022011099 C0014761 Erythroblastosis, Fetal 1907 3 0.9017109955224869 C0751868 Alcohol Withdrawal-Induced Major Motor Seizure 1907 3 0.9496134475262524 C0751869 Status Epilepticus, Alcohol Withdrawal-Induced 1907 3 0.9496134475262524 C0154671 Degenerative brain disorder 1900 3 0.7837037976127688 C0235946 Cerebral atrophy 1900 3 0.6108245095183256 C4020860 Supratentorial atrophy 1900 3 0.7572480642891091 C1848552 Methylmalonic Aciduria and Homocystinuria, CblD Type 1898 3 1.0 C1848553 Homocystinuria, CblD Type, Variant 1 1898 3 1.0 C1848554 Methylmalonic Aciduria, CblD Type, Variant 2 1898 3 1.0 C1853249 SPINOCEREBELLAR ATAXIA 28 1897 3 1.0 C3280977 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 1897 3 1.0 C4274988 Spinocerebellar ataxia type 28 1897 3 1.0 C1858477 Epilepsy, Partial, with Variable Foci 1895 3 0.348071332974478 C4310708 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 1895 3 0.19514242380157906 C4310709 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 1895 3 0.19514242380157906 C1836672 Total Hypotrichosis, Mari type 1893 3 0.9913426027210048 C3148823 WOOLLY HAIR, AUTOSOMAL RECESSIVE 2, WITH OR WITHOUT HYPOTRICHOSIS 1893 3 0.9960886677518175 C3148824 WH/HT 1893 3 0.9960886677518175 C1848435 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 1892 3 0.5827144378236757 C1854310 Hypotrichosis simplex 1892 3 0.1837819997464611 C3279470 HYPOTRICHOSIS 8 1892 3 0.6960132188769539 C1366911 Cerebral Cavernous Malformations 1 1890 3 0.9989230515253277 C1861785 Cavernous Malformations of CNS and Retina 1890 3 0.9994625329171823 C1861786 Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations 1890 3 0.9994625329171823 C0477360 Other dystonia 1884 3 0.9768006488123715 C1719382 Acquired torsion dystonia 1884 3 0.9768006488123715 C1869117 Paroxysmal nonkinesigenic dyskinesia 1884 3 0.9364438626055634 C0001338 Herpetic Acute Necrotizing Encephalitis 1881 3 0.8495956933717724 C0019385 Herpetic meningoencephalitis 1881 3 0.9281142004175484 C0276226 Herpes encephalitis 1881 3 0.9106485268209112 C0520679 Sleep Apnea, Obstructive 1879 3 0.4485646819539976 C0751761 Upper Airway Resistance Sleep Apnea Syndrome 1879 3 0.7123240917271534 C4225349 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 1879 3 0.7123240917271534 C1698581 Rokitansky Kuster Hauser syndrome 1875 3 0.8553451422138234 C2675014 Mullerian Aplasia and Hyperandrogenism 1875 3 0.9277122086306334 C2678492 Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs 1875 3 0.9277122086306334 C0543697 Mixed cryoglobulinemia 1868 3 0.42793889561978304 C3542922 IMMUNODEFICIENCY, COMMON VARIABLE, 7 1868 3 0.012789108690259137 C3554540 LYMPHOPROLIFERATIVE SYNDROME 2 1868 3 0.2270189344199347 C0020800 Idiopathic Hypercatabolic Hypoproteinemia 1866 3 0.9532340651889991 C0033680 Protein-Losing Enteropathies 1866 3 0.8918414272593603 C4538570 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY 1866 3 0.9532340651889991 C1862178 Cole Carpenter syndrome 1859 3 0.6795297671882291 C4225382 COLE-CARPENTER SYNDROME 2 1859 3 0.31820989922858894 C4317154 COLE-CARPENTER SYNDROME 1 1859 3 0.2690631429428057 C0152136 Low Tension Glaucoma 1857 3 0.6895494718443996 C0393729 Immersion Related Epilepsy 1857 3 0.8588056389000274 C1857253 Dicarboxylicaminoaciduria 1857 3 0.8554129843019541 C3280479 PITT-HOPKINS-LIKE SYNDROME 2 1856 3 1.0 C3280524 SCHIZOPHRENIA 17 1856 3 1.0 C3808494 CHROMOSOME 2p16.3 DELETION SYNDROME 1856 3 1.0 C1970416 XFE Progeroid Syndrome 1853 3 0.9409721985238393 C3806565 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 1853 3 0.9701802351769376 C3808988 FANCONI ANEMIA, COMPLEMENTATION GROUP Q 1853 3 0.9701802351769376 C3809811 PARKINSON DISEASE 19A, JUVENILE-ONSET 1848 3 0.7779017889053547 C4310802 PARKINSON DISEASE 19B, EARLY-ONSET 1848 3 0.7779017889053547 C4510873 Atypical juvenile parkinsonism 1848 3 0.0 C0268467 Hyperphenylalaninemia, BH4-Deficient, B 1838 3 0.6811036880861503 C1851920 Dopa-Responsive Dystonia 1838 3 0.7381031668122107 C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 1838 3 0.37246962795044164 C0042345 Varicosity 1837 3 0.15021081890586396 C1855607 Keutel syndrome 1837 3 -0.07297072337834988 C3810170 DEAFNESS, AUTOSOMAL DOMINANT 56 1837 3 0.03571767562373238 C0005395 Bile Duct Diseases 1826 3 0.7410174652844066 C0162568 Erythropoietic Protoporphyria 1826 3 0.878889363072825 C0349426 Ferrochelatase deficiency 1826 3 0.7885328909903478 C0023092 Lassa Fever 1825 3 1.0 C3151184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 1825 3 1.0 C4225291 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 1825 3 1.0 C1858386 Leber Congenital Amaurosis 4 1821 3 1.0 C2751763 Retinitis Pigmentosa, Juvenile, Aipl1-Related 1821 3 1.0 C2751764 CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 1821 3 1.0 C0030569 Secondary Parkinson Disease 1815 3 1.0 C0751414 Parkinson Disease, Secondary Vascular 1815 3 1.0 C0751415 Atherosclerotic Parkinsonism 1815 3 1.0 C0019050 Hemoglobinuria, Paroxysmal 1806 3 0.8575029885859068 C0024790 Paroxysmal nocturnal hemoglobinuria 1806 3 0.5615931863301564 C0086774 Cold paroxysmal hemoglobinuria 1806 3 0.8560542491747499 C0158962 Hemolytic disease of fetus OR newborn due to RhD isoimmunization 1804 3 0.8028804708317344 C1263988 Hemolytic disorder 1804 3 0.4778547659029687 C3698348 Anti-D isoimmunization affecting pregnancy 1804 3 0.7861702116869942 C0272052 Rh Deficiency Syndrome 1803 3 0.7511318301054977 C1849387 Rh-Null, Regulator Type 1803 3 0.8359234306347942 C1861455 STOMATOCYTOSIS I 1803 3 0.7312247144871052 C0032285 Pneumonia 1802 3 0.8694939766570591 C0032300 Lobar Pneumonia 1802 3 0.9255647625813682 C3714636 Pneumonitis 1802 3 0.9325632566281837 C0024282 Lymphocytosis 1801 3 0.5290694684968326 C0220989 Acquired partial lipodystrophy 1801 3 0.7680157313359387 C4225289 EPILEPSY, PROGRESSIVE MYOCLONIC, 9 1801 3 0.7755009700527273 C0011052 Prelingual Deafness 1791 3 0.9961874058274449 C0751068 Deafness, Acquired 1791 3 0.9979002290121579 C4082305 Deaf Mutism 1791 3 0.9982683810174889 C1866340 Peroxisome Biogenesis Disorder, Complementation Group 3 1790 3 1.0 C3550693 PEROXISOME BIOGENESIS DISORDER 3B 1790 3 1.0 C3553929 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) 1790 3 1.0 C0268228 Neuraminidase 1 deficiency 1784 3 0.9785177447089447 C3888317 Sialidosis, type 2 1784 3 0.9893103261466517 C4282398 Sialidase deficiency 1784 3 0.9893103261466517 C0023806 Lipomucopolysaccharidosis 1783 3 0.6854178918447382 C0026697 Mucolipidoses 1783 3 0.7257594448608502 C0268226 Type I Mucolipidosis 1783 3 0.1814672886583548 C2673375 Mucolipidosis III Alpha Beta, Atypical 1780 3 1.0 C2673377 MUCOLIPIDOSIS II ALPHA/BETA (disorder) 1780 3 1.0 C2931894 Mucolipidosis 2 1780 3 1.0 C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 1779 3 0.39096744761216035 C3151441 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 1779 3 0.2588869415408644 C3502105 Dyskeratosis Congenita, Autosomal Recessive 1779 3 0.6862431523601873 C0002986 Fabry Disease 1775 3 0.9665050863877458 C1706559 Cornea verticillata 1775 3 0.9732926826845234 C1970820 Fabry Disease, Cardiac Variant 1775 3 0.9752038951648344 C0949855 Electron Transport Chain Deficiencies, Mitochondrial 1774 3 0.9996297667474157 C0949856 Oxidative Phosphorylation Deficiencies 1774 3 0.9994447643342457 C0949857 Mitochondrial Respiratory Chain Deficiencies 1774 3 0.9994447643342457 C0175683 Citrullinemia 1768 3 0.9920894396904761 C0751750 Argininosuccinic Acid Synthetase Deficiency Disease, Partial 1768 3 0.9960375663174867 C0751751 Argininosuccinic Acid Synthetase Deficiency, Complete 1768 3 0.9960375663174867 C0034960 Refsum Disease 1751 3 0.7937163547387684 C1720802 Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency 1751 3 0.4676595173109147 C2749345 Refsum Disease, Adult, 1 1751 3 0.7553596182469583 C2750247 Polymicrogyria, Asymmetric 1750 3 1.0 C3552236 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 1750 3 1.0 C4024960 Unilateral polymicrogyria 1750 3 1.0 C0017178 Gastrointestinal Diseases 1742 3 0.9969676479693609 C0559031 Functional Gastrointestinal Disorders 1742 3 0.9984558439313651 C1565321 Cholera Infantum 1742 3 0.998489064790591 C0263417 Cutis verticis gyrata 1739 3 0.9999999999999748 C2674695 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 1739 3 0.9999999999999748 C4072877 Scalp folds 1739 3 0.9999999999999748 C0003175 Anthrax disease 1736 3 0.6264321207454795 C0017567 Gingival Hypertrophy 1736 3 0.35725477632624814 C2745948 Hyalinosis, Systemic 1736 3 0.6425412978554959 C1832841 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 1730 3 0.5501669211630772 C1842852 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 1730 3 0.205518699249844 C3809374 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 1730 3 0.22496788737224574 C1842870 Chromosome 1p36 Deletion Syndrome 1726 3 0.17470545136798674 C3809288 LEFT VENTRICULAR NONCOMPACTION 8 1726 3 0.5689775839107454 C3809289 CARDIOMYOPATHY, DILATED, 1LL 1726 3 0.5689775839107454 C0342800 Inosine Triphosphatase Deficiency 1723 3 1.0 C1336820 Treatment-Induced Anemia 1723 3 1.0 C4225256 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 1723 3 1.0 C1858391 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1712 3 0.6108712269178777 C2751318 Nijmegen Breakage Syndrome-Like Disorder 1712 3 0.38001691152257056 C4012790 Ataxia-Telangiectasisa-Like Disorder 1 1712 3 0.6228357668453862 C0268119 Combined molybdoflavoprotein enzyme deficiency 1707 3 0.9590422503644357 C1291266 Deficiency of aldehyde oxidase 1707 3 0.9804894260217336 C1854988 Molybdenum Cofactor Deficiency, Complementation Group A 1707 3 0.9804894260217336 C0152095 Patau syndrome 1705 3 0.2203001974212214 C1832388 Platelet Disorder, Familial, with Associated Myeloid Malignancy 1705 3 0.3306694029733978 C3896960 Childhood Pre-B Acute Lymphoblastic Leukemia 1705 3 -0.027256490904037218 C1854776 Infantile cardiomyopathy 1703 3 0.979530290173549 C3279793 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 1703 3 0.958339283945338 C4014588 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 1703 3 0.979530290173549 C0033046 Premenstrual syndrome 1702 3 0.966480153099697 C1853490 22q13.3 Deletion Syndrome 1702 3 0.9018752926029319 C1868117 POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA 1702 3 0.966480153099697 C1299884 Eosinophilic myositis (disorder) 1701 3 0.9992510185641242 C1869123 Limb-girdle muscular dystrophy type 2A 1701 3 0.9985026357363739 C4275181 Autosomal recessive limb girdle muscular dystrophy type 2A 1701 3 0.9992510185641242 C0023521 Globoid cell leukodystrophy 1698 3 0.96213734111087 C0268252 Late-Onset Globoid Cell Leukodystrophy 1698 3 0.9107223773270701 C0751273 Infantile Globoid Cell Leukodystrophy 1698 3 0.8755606637746739 C1857079 Atretic auditory canal 1696 3 0.024189804135687224 C1868684 EAR, PATELLA, SHORT STATURE SYNDROME 1696 3 0.3785708148741779 C1969653 MUNGAN SYNDROME 1696 3 0.27501005050937577 C0027743 Nerve compression syndrome 1688 3 0.8472684661866572 C1510429 Entrapment Neuropathies 1688 3 0.8472684661866572 C4225250 SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE 1688 3 0.6890086092574034 C1859878 Alopecia-Mental Retardation Syndrome 1 1686 3 0.28654798923140773 C2931280 Perniola Krajewska Carnevale syndrome 1686 3 0.6330719985460146 C4015557 AMELOGENESIS IMPERFECTA, TYPE IH 1686 3 0.09544266829805154 C0024748 alpha-Mannosidosis 1672 3 1.0 C1257960 Mannosidase Deficiency Diseases 1672 3 1.0 C4024919 Spinocerebellar tract disease in lower limbs 1672 3 1.0 C0271270 Oculovestibuloauditory syndrome 1667 3 0.6495986646894533 C1853761 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 1667 3 0.8626613304687285 C1865409 Amyotrophic Lateral Sclerosis 4, Juvenile 1667 3 0.8740688792831109 C0032339 Rothmund-Thomson syndrome 1665 3 0.9211150673669438 C0265308 Baller-Gerold syndrome 1665 3 0.9691196681978779 C1849453 Rapadilino syndrome 1665 3 0.9691196681978779 C0878684 SHORT syndrome 1661 3 0.9995674733063635 C3554689 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 1661 3 0.9997837179499807 C4014934 IMMUNODEFICIENCY 36 1661 3 0.9997837179499807 C0026618 Dental Fluorosis, Acquired 1660 3 0.5243431378048634 C1853139 OPTIC ATROPHY 5 (disorder) 1660 3 0.7353662272519511 C3280660 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1660 3 0.7324175848311858 C1864399 Peroxisome Biogenesis Disorder, Complementation Group 7 1659 3 1.0 C3553947 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 1659 3 1.0 C3553948 PEROXISOME BIOGENESIS DISORDER 6B 1659 3 1.0 C4539714 MECKEL SYNDROME 13 1656 3 1.0 C4539715 JOUBERT SYNDROME 29 1656 3 1.0 C4539729 OROFACIODIGITAL SYNDROME XVI 1656 3 1.0 C0033141 Cardiomyopathies, Primary 1651 3 0.9490350504622265 C0036529 Myocardial Diseases, Secondary 1651 3 0.9490478822467757 C0878544 Cardiomyopathies 1651 3 0.8935952248165085 C1855369 Maple Syrup Urine Disease, Type IA 1648 3 0.8149930866466982 C1855371 MAPLE SYRUP URINE DISEASE, TYPE II 1648 3 0.8062139137473231 C2930990 Maple syrup urine disease, type 1B 1648 3 0.8969435747855108 C0005944 Metabolic Bone Disorder 1642 3 0.18187891681780818 C0029453 Osteopenia 1642 3 0.6323442568695623 C0747078 Generalized osteopenia 1642 3 0.09313533783521795 C0268136 Xeroderma pigmentosum, group B 1640 3 1.0 C1970808 Xeroderma Pigmentosum B-Cockayne Syndrome 1640 3 1.0 C4225344 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE 1640 3 1.0 C0016952 Galactosemias 1635 3 0.7145367664607332 C0268151 Classical galactosemia 1635 3 0.04808859508324324 C0751161 UDPglucose 4-epimerase deficiency disease 1635 3 0.7445346267594776 C0021345 Infectious Mononucleosis 1625 3 0.5456770780126197 C0451697 Immunodeficiency following hereditary defective response to Epstein-Barr virus 1625 3 0.7507871873692012 C1264624 Fatal infectious mononucleosis 1625 3 0.7507871873692012 C0795842 chromosome 11q duplication syndrome 1615 3 0.994706033041004 C3150803 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 1615 3 0.9887721518740699 C4016301 NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA 1615 3 0.994706033041004 C1856796 Estren-Dameshek Variant of Fanconi Anemia 1605 3 0.8696407767688511 C1856797 Estren-Dameshek Variant of Fanconi Pancytopenia 1605 3 0.8696407767688511 C3469521 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 1605 3 0.5636886029201941 C0015625 Fanconi Anemia 1604 3 0.7463514272527041 C0272027 Pyridoxine-responsive sideroblastic anemia 1604 3 0.7589362110647558 C1861028 Esophageal atresia with or without tracheoesophageal fistula 1604 3 0.6551171050794036 C0029106 Opisthorchiasis 1601 3 1.0 C0277004 Opisthorchis felineus Infection 1601 3 1.0 C0277005 Opisthorchis viverrini Infection 1601 3 1.0 C0002892 Anemia, Pernicious 1600 3 0.4599340101776394 C0342701 Transcobalamin II deficiency 1600 3 0.12675202265221647 C1394891 Intrinsic Factor Deficiency 1600 3 0.33051595365745856 C0002888 Anemia, Megaloblastic 1599 3 0.3113814700916742 C0016412 Folic Acid Deficiency 1599 3 0.5937557280258959 C3151205 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency 1599 3 0.7022937679332074 C0752107 Brain Diseases, Metabolic, Inherited 1598 3 1.0 C0752109 Brain Diseases, Metabolic, Inborn 1598 3 1.0 C0752110 Central Nervous System Inborn Metabolic Diseases 1598 3 1.0 C1837148 MYOPIA 6 (disorder) 1597 3 0.606976978666884 C1858424 Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 1597 3 0.43572645201944343 C2931111 Myopia, susceptibility to 1597 3 0.606976978666884 C0040997 Trigeminal Neuralgia 1595 3 0.9888817938803474 C0393786 Trigeminal Neuralgia, Idiopathic 1595 3 0.9944231399766784 C0393787 Secondary Trigeminal Neuralgia 1595 3 0.9944231399766784 C1955741 Glucocorticoid deficiency 1593 3 0.14891614791697927 C4049650 Familial Glucocorticoid Deficiency Type 1 1593 3 0.5446581779670764 C4049714 Familial Glucocorticoid Deficiency Type 2 1593 3 0.25484786257589775 C1291611 Deficiency of glucose-6-phosphate isomerase 1592 3 1.0 C3150730 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 1592 3 1.0 C4025184 Spontaneous hemolytic crises 1592 3 1.0 C0395837 Stenosis of external auditory canal 1591 3 0.1918902462414706 C0796117 Pitt-Rogers-Danks Syndrome 1591 3 0.5489463610066461 C1956097 Wolf-Hirschhorn Syndrome 1591 3 0.5806709883240742 C0036690 Septicemia 1590 3 0.9509921932341228 C0243026 Sepsis 1590 3 0.957037617548331 C1719672 Severe Sepsis 1590 3 0.936503914118135 C0271801 Central hypothyroidism 1587 3 0.656909284363833 C3665349 Secondary hypothyroidism 1587 3 0.4776444962293874 C4316995 Primary Hypothyroidism 1587 3 0.5898037728754693 C0795949 Galloway Mowat syndrome 1585 3 0.47603458050508224 C1847114 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 1585 3 0.3074657947882162 C3489393 Hiatal Hernia 1585 3 0.23665567378701177 C0477362 Other specified extrapyramidal and movement disorders 1584 3 0.6653449434725934 C3553288 HYPEREKPLEXIA 3 1584 3 0.21501948255422285 C3553291 HYPEREKPLEXIA 2 1584 3 0.3040977728098021 C3554398 SPINAL MUSCULAR ATROPHY, JOKELA TYPE 1581 3 1.0 C4014648 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 1581 3 1.0 C4015513 MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 1581 3 1.0 C1861689 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 1578 3 1.0 C2751307 MICROPHTHALMIA, ISOLATED 4 (disorder) 1578 3 1.0 C3715164 LEBER CONGENITAL AMAUROSIS 17 1578 3 1.0 C3150967 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT 1577 3 0.9039202345277295 C3150968 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 1577 3 0.6228390306071097 C3150969 MICROPHTHALMIA, ISOLATED 7 1577 3 0.9039202345277295 C1864720 MICROPHTHALMIA, ISOLATED 2 1574 3 1.0 C1864721 Microphthalmia, Isolated, with Coloboma 3 1574 3 1.0 C1864722 Microphthalmia, Cataracts, and Iris Abnormalities 1574 3 1.0 C0042166 Uveitis, Intermediate 1563 3 0.9997094103776997 C1853392 Interleukin 2 Receptor, Alpha, Deficiency of 1563 3 0.9994186046050487 C1866040 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 1563 3 0.9997094103776997 C1855052 MICROPHTHALMIA, ISOLATED 1 1555 3 0.07974832533975187 C1859773 Microphthalmia, Syndromic 3 1555 3 0.5302198417655027 C1859774 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1555 3 0.5553957842626456 C0032897 Prader-Willi Syndrome 1554 3 0.5592938427842288 C0265222 Royer Syndrome 1554 3 0.6059996057966356 C3714796 Isolated somatotropin deficiency 1554 3 0.18638434106399826 C1832409 Crisponi syndrome 1552 3 0.8766976926813026 C1848947 COLD-INDUCED SWEATING SYNDROME 1 1552 3 0.8233645140354342 C1853198 COLD-INDUCED SWEATING SYNDROME 2 1552 3 0.7767465508028559 C0032197 Platelet Storage Pool Deficiency 1549 3 0.33774002271700443 C0079504 Hermanski-Pudlak Syndrome 1549 3 0.2026826575597006 C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 1549 3 0.049457807815534896 C1969032 Cataract, Autosomal Dominant, Multiple Types 1 1544 3 0.9818921622111928 C3808115 CATARACT 12, MULTIPLE TYPES 1544 3 0.9640131352322965 C4021566 Progressive cataract 1544 3 0.9818921622111928 C0858617 Posterior subcapsular cataract 1540 3 0.052711213386187644 C1112768 Anterior subcapsular cataract 1540 3 0.7180967726171851 C1854311 Cataract, posterior polar, 3 1540 3 0.7180967726171851 C1833118 Cataract, Pulverulent 1537 3 0.5955722083023868 C1852438 CATARACT, COPPOCK-LIKE 1537 3 0.5723004159825456 C1861829 Cataract microcornea syndrome 1537 3 0.3577739220403943 C1859317 Cataract and cardiomyopathy 1532 3 0.7470295827195257 C3553494 CATARACT 38 1532 3 0.9172248741417512 C4025277 Exercise-induced lactic acidemia 1532 3 0.9172248741417512 C0432255 Geroderma osteodysplastica 1525 3 0.23949658208683625 C2751987 Cutis Laxa, Autosomal Recessive, Type IIB 1525 3 0.5999322726036108 C3280799 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 1525 3 0.6022810193401438 C0023212 Left-Sided Heart Failure 1524 3 0.9410950331781256 C0235527 Heart Failure, Right-Sided 1524 3 0.9671676281065485 C1959583 Myocardial Failure 1524 3 0.9684803067912073 C3810127 IMMUNODEFICIENCY 18 1522 3 1.0 C3810128 IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT 1522 3 1.0 C3810129 IMMUNODEFICIENCY 18, SCID VARIANT 1522 3 1.0 C0016063 Osteitis Fibrosa Disseminata 1510 3 0.4283835395680186 C0524582 Mulibrey Nanism 1510 3 0.8203143464369321 C2931895 Pericardial constriction with growth failure 1510 3 0.8203143464369321 C4024867 Perifollicular hyperkeratosis 1509 3 0.3855165440601735 C4273658 Graham Little Piccardi Lassueur syndrome 1509 3 0.12256466013168467 C4540331 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5 1509 3 0.14363459670153464 C0019357 Keratitis, Herpetic 1504 3 0.8543140063370543 C0024441 Macular Holes 1504 3 0.8543140063370543 C1853959 Birdshot chorioretinopathy 1504 3 0.7584042522847354 C0019100 Severe Dengue 1496 3 0.7285070510157791 C0376300 Dengue Shock Syndrome 1496 3 0.7320328876670107 C1853124 NEPHROTIC SYNDROME, TYPE 3 1496 3 0.1614881345851988 C0009447 Common Variable Immunodeficiency 1489 3 0.8050564431092794 C2936664 Acquired Hypogammaglobulinemia 1489 3 0.9098670297563175 C2936665 Immunoglobulin Deficiency, Late-Onset 1489 3 0.9018156343602505 C0242584 Autoimmune thrombocytopenia 1488 3 0.5629832932508655 C0398650 Immune thrombocytopenic purpura 1488 3 0.39547689433710037 C0920163 Idiopathic thrombocytopenia 1488 3 0.5502998411972392 C1836460 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 1485 3 1.0 C3809443 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 1485 3 1.0 C4310676 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 1485 3 1.0 C0008312 Primary biliary cirrhosis 1480 3 0.720194626981639 C0023892 Biliary cirrhosis 1480 3 0.825384502803407 C0238065 Biliary Cirrhosis, Secondary 1480 3 0.7621702456876895 C0040261 Onychomycosis 1479 3 0.4264005188942543 C0268307 Conjugated hyperbilirubinemia 1479 3 0.3211554123848656 C0343065 Symptomatic dermographism 1479 3 0.4826111862658677 C0020433 Hyperbilirubinemia 1478 3 0.3877236539305781 C0020435 Hyperbilirubinemia, Hereditary 1478 3 0.30116020784972497 C0022350 Jaundice, Chronic Idiopathic 1478 3 0.29772135318483883 C3554656 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 1467 3 1.0 C3808802 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 1467 3 1.0 C4225346 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 1467 3 1.0 C0270715 Degenerative Diseases, Central Nervous System 1465 3 0.8958738790288657 C0524851 Neurodegenerative Disorders 1465 3 0.7706493839617259 C0751733 Degenerative Diseases, Spinal Cord 1465 3 0.8958738790288657 C0242383 Age related macular degeneration 1460 3 0.3508155435707356 C1536085 Geographic Atrophy 1460 3 0.5365313915217961 C2237660 exudative macular degeneration 1460 3 0.5431116014489481 C2931245 Bone Marrow failure syndromes 1459 3 0.8681829340857987 C3808553 Bone marrow failure syndrome 1 1459 3 0.8082675486789305 C3810350 Bone marrow failure syndrome 2 1459 3 0.8140233132956897 C0272170 Shwachman syndrome 1457 3 -0.12546326428410967 C0878677 Glycogen Storage Disease Type IIb 1457 3 0.26797324010386875 C1442837 Myocardial necrosis 1457 3 0.5199584299255984 C0432289 Winchester syndrome (disorder) 1456 3 0.9985449668456207 C4024579 Osteolysis involving bones of the feet 1456 3 0.9992725542487335 C4082974 Dupuytren\'s Disease 1456 3 0.9992725542487335 C1865285 Megalencephaly cutis marmorata telangiectatica congenita 1453 3 0.9593656325906436 C2752042 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 1453 3 0.9820446258220068 C3554518 COWDEN SYNDROME 5 1453 3 0.9820446258220068 C0020615 Hypoglycemia 1451 3 0.4758535666315103 C0271708 Fasting Hypoglycemia 1451 3 0.6533421890540463 C0271710 Reactive hypoglycemia 1451 3 0.6718669964075613 C0162531 Hereditary Coproporphyria 1450 3 0.9996700891467303 C0342856 Coproporphyria 1450 3 0.9991489790478228 C0342859 Harderoporphyria 1450 3 0.999368418348928 C0031029 Periapical Granuloma 1446 3 0.49219730693611324 C0034543 Radicular Cyst 1446 3 0.4921006220863399 C0399379 Dentin dysplasia, type 1 1446 3 0.41222225735648904 C0272302 Gray Platelet Syndrome 1432 3 0.6161078615912621 C1861194 Thrombasthenia-Thrombocytopenia, Hereditary 1432 3 0.33231926432156894 C2717750 Platelet alpha-Granule Deficiency 1432 3 0.7270275742108788 C0456103 Sepsis of the newborn 1425 3 1.0 C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME 1425 3 1.0 C4040739 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 1425 3 1.0 C0085662 Macrocytosis 1415 3 0.6898979485566357 C0236970 Alcohol-Induced Disorders 1415 3 0.816496580927726 C0679414 alcohol flush reaction 1415 3 0.816496580927726 C0013261 Duane Retraction Syndrome 1410 3 0.6223681992451383 C0751083 Duane Retraction Syndrome, Type 2 1410 3 0.7393495815627111 C0994516 Type 1 Duane Retraction Syndrome 1410 3 0.5209915686765104 C0581354 Recurrent sinusitis 1409 3 0.6221372819029892 C0747085 Recurrent otitis media 1409 3 0.2681541300721815 C4280333 Recurrent sinus disease 1409 3 0.6221372819029892 C0008780 Ciliary Motility Disorders 1408 3 0.4899605458613951 C0022521 Kartagener Syndrome 1408 3 0.698281086082414 C4317124 Polynesian Bronchiectasis 1408 3 0.6252205610787225 C0085083 Ovarian Hyperstimulation Syndrome 1407 3 0.9346811210163981 C0343084 Capillary Leak Syndrome 1407 3 0.9496117476479664 C3494162 Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous 1407 3 0.9616207038668191 C0752332 Lupus Vasculitis, Central Nervous System 1405 3 1.0 C0752334 Lupus Meningoencephalitis 1405 3 1.0 C0752335 Neuropsychiatric Systemic Lupus Erythematosus 1405 3 1.0 C0005686 Urinary Bladder Diseases 1401 3 0.0220356768648347 C0036323 Schistosomiasis 1401 3 0.4219447499614753 C1850938 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 1401 3 0.44476091201218726 C0012716 Disorder of magnesium metabolism 1389 3 0.9722803115394203 C0268448 Primary hypomagnesemia (disorder) 1389 3 0.9190796009460118 C3151482 HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING 1389 3 0.9722803115394203 C0003507 Aortic Valve Stenosis 1388 3 0.48225750069486184 C3542024 AORTIC VALVE DISEASE 2 1388 3 0.7393921099168455 C4479496 CRANIOSYNOSTOSIS 7 1388 3 0.7524548660560921 C0010054 Coronary Arteriosclerosis 1381 3 0.5136120750774833 C0010068 Coronary heart disease 1381 3 0.20571659217144087 C1956346 Coronary Artery Disease 1381 3 0.5274957649514675 C0149725 Lower respiratory tract infection 1368 3 0.996090808053672 C0585953 Recurrent chest infections 1368 3 0.998040995440351 C3163798 Recurrent lower respiratory tract infection 1368 3 0.998040995440351 C0011847 Diabetes 1364 3 0.2947049926547248 C0011849 Diabetes Mellitus 1364 3 0.33003698049507924 C0011860 Diabetes Mellitus, Non-Insulin-Dependent 1364 3 0.26946995442507027 C1845672 Mental Retardation, X-Linked 63 1362 3 -0.2082048303008008 C1846242 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 1362 3 0.5050508614959593 C4310810 MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 1362 3 0.25231642807326027 C0268528 Hyperprolinemia 1357 3 0.7784250447678972 C0268529 Proline dehydrogenase deficiency 1357 3 0.8890025575602069 C1833247 SCHIZOPHRENIA 4 (disorder) 1357 3 0.8890025575602069 C0028860 Oculocerebrorenal Syndrome 1347 3 0.9821422087200115 C1845167 Dent Disease 2 1347 3 0.9518322932145092 C2713392 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 1347 3 0.9786531334264271 C0001768 Agammaglobulinemia 1328 3 0.6550830757773196 C0086438 Hypogammaglobulinemia 1328 3 0.4859311509433183 C1832241 Agammaglobulinemia, non-Bruton type 1328 3 0.4786699900084678 C0003850 Arteriosclerosis 1322 3 0.1460645896653591 C0004153 Atherosclerosis 1322 3 0.22350184808457763 C0007222 Cardiovascular Diseases 1322 3 0.08251658952238015 C2613439 Extramedullary Hematopoiesis (disorder) 1320 3 0.06046716607367982 C2931351 Familial myelofibrosis 1320 3 0.7180248799368277 C3809031 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE 1320 3 0.5987370900416766 C0015695 Fatty Liver 1316 3 0.5990749101810389 C0015696 Fatty Liver, Alcoholic 1316 3 0.22455793621772807 C2711227 Steatohepatitis 1316 3 0.38953306175171104 C3151185 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY 1312 3 0.9914935111076358 C3151186 NEPHRONOPHTHISIS 12 1312 3 0.9830032650755726 C3279203 JOUBERT SYNDROME 11 1312 3 0.9914935111076358 C2750063 Leber Congenital Amaurosis 14 1310 3 1.0 C2750064 Retinal Dystrophy, Early-Onset Severe, Lrat-Related 1310 3 1.0 C2750065 RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED 1310 3 1.0 C0339730 Blindness, Acquired 1301 3 1.0 C0376288 Amaurosis 1301 3 1.0 C0750958 Blindness, Monocular 1301 3 1.0 C1836032 Immunoglobulin a deficiency 2 1298 3 0.6181049441109089 C3150354 IMMUNODEFICIENCY, COMMON VARIABLE, 2 1298 3 0.6181049441109089 C4082764 Gastrointestinal infection 1298 3 0.07921010028571897 C0268141 Xeroderma pigmentosum, group G 1296 3 0.9878692763594189 C1851443 Cerebrooculofacioskeletal Syndrome 3 1296 3 0.9874578642407207 C1968561 Xeroderma Pigmentosum, Type G-Cockayne Syndrome 1296 3 0.9946736370421613 C0265201 De Sanctis-Cacchione syndrome 1289 3 1.0 C3151063 MACULAR DEGENERATION, AGE-RELATED, 5 1289 3 1.0 C4310783 PREMATURE OVARIAN FAILURE 11 1289 3 1.0 C0393697 Epilepsy with grand mal seizures on awakening (disorder) 1288 3 1.0 C1854107 Hyperaldosteronism, Familial, Type II 1288 3 1.0 C3810242 LEUKOENCEPHALOPATHY WITH ATAXIA 1288 3 1.0 C0796089 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 1287 3 1.0 C4225327 EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 1287 3 1.0 C4274995 Lissencephaly with cerebellar hypoplasia 1287 3 1.0 C0155568 Rheumatic aortic regurgitation 1275 3 0.8568797603793529 C0263009 Sclerosis of the skin 1275 3 0.6239397720381178 C0264774 Mitral and aortic incompetence 1275 3 0.8568797603793529 C1861862 Familial Hypertrophic Cardiomyopathy Type 4 1271 3 0.9916054432661721 C3715165 LEFT VENTRICULAR NONCOMPACTION 10 1271 3 0.9957930780562956 C3809346 CARDIOMYOPATHY, DILATED, 1MM 1271 3 0.9957930780562956 C0271902 Microcytic normochromic anemia 1270 3 0.7826772402854394 C1839832 Noncompaction cardiomyopathy 1270 3 0.12856312160168254 C1857776 3-@METHYLGLUTACONIC ACIDURIA, TYPE V 1270 3 0.7826772402854394 C0265227 Schinzel-Giedion syndrome 1266 3 0.7780821530583171 C3714602 Staphylococcal toxic shock syndrome 1266 3 0.2689950293512008 C4015141 MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 1266 3 0.7780821530583171 C2674249 Anemia, Sideroblastic, Autosomal Dominant 1262 3 1.0 C4225180 EVEN-PLUS SYNDROME 1262 3 1.0 C4225428 ANEMIA, SIDEROBLASTIC, 4 1262 3 1.0 C2673914 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 1260 3 0.677213894756849 C4225155 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY 1260 3 0.9095043682710268 C4225178 SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA 1260 3 0.9095043682710268 C0030293 Pancreatic Insufficiency 1257 3 0.002670792483117292 C0267963 Exocrine pancreatic insufficiency 1257 3 0.5081381914199979 C0554119 Pancreatic malabsorption 1257 3 0.2519420493453454 C0042880 Vitamin K Deficiency 1256 3 0.6852327889686017 C1843139 Hypercholanemia, Familial 1256 3 0.7316887896971227 C2931067 Cholestasis, progressive familial intrahepatic 4 1256 3 0.4035430775982978 C0010278 Craniosynostosis 1252 3 0.47354207675404475 C1833340 Synostotic Posterior Plagiocephaly 1252 3 0.6451111055533792 C2931150 Synostotic Anterior Plagiocephaly 1252 3 0.6710156439859798 C1833736 Osteogenesis imperfecta, Levin type 1248 3 1.0 C1969785 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 1248 3 1.0 C2750076 Miyoshi Muscular Dystrophy 3 1248 3 1.0 C1969106 Osteopetrosis, Autosomal Recessive 4 1244 3 0.5252547295447586 C3179239 Osteopetrosis Autosomal Dominant Type 2 1244 3 0.7759970358718379 C3645711 Congenital Osteopetrosis 1244 3 0.187607563636263 C0431399 Familial aplasia of the vermis 1238 3 0.3350474968435567 C3489733 Oculomotor apraxia 1238 3 0.19637521253581525 C4274118 Joubert syndrome with ocular defect 1238 3 -0.04647399350109089 C1851479 Keratoderma palmoplantaris transgrediens 1236 3 1.0 C2675236 Deafness, Autosomal Dominant 2B 1236 3 1.0 C4509933 Peripheral neuropathy with sensorineural hearing impairment syndrome 1236 3 1.0 C2673873 BARDET-BIEDL SYNDROME 13 1228 3 0.9820205015404687 C3714506 Meckel syndrome type 1 1228 3 0.9593267783339444 C4310705 JOUBERT SYNDROME 28 1228 3 0.9820205015404687 C2676788 JOUBERT SYNDROME 9 (disorder) 1227 3 0.9719141353151248 C2676790 MECKEL SYNDROME, TYPE 6 (disorder) 1227 3 0.9719141353151248 C3280898 JOUBERT SYNDROME 9/15, DIGENIC 1227 3 0.9452684881936295 C1846357 Meckel syndrome type 3 1223 3 1.0 C1853153 JOUBERT SYNDROME 6 1223 3 1.0 C3150796 NEPHRONOPHTHISIS 11 1223 3 1.0 C0155912 Pulmonary Alveolar Microlithiasis 1217 3 0.9326393815035203 C1864873 Testicular Microlithiasis 1217 3 0.9161755205926587 C3263719 Primary acquired melanosis 1217 3 0.7860073215602715 C0034139 Purine-Pyrimidine Metabolism, Inborn Errors 1204 3 0.9948528701877237 C1959620 Dihydropyrimidine Dehydrogenase Deficiency 1204 3 0.9878646375518602 C4304578 1p21.3 microdeletion syndrome 1204 3 0.9948528701877237 C1848526 Pontocerebellar Hypoplasia Type 2A 1201 3 1.0 C1856974 PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 1201 3 1.0 C1857762 Olivopontocerebellar hypoplasia, fetal-onset 1201 3 1.0 C0267071 Oropharyngeal Dysphagia 1199 3 0.48980345077928356 C0267072 Esophageal Dysphagia 1199 3 0.49729080630121153 C2932714 Pontocerebellar Hypoplasia Type 2 1199 3 0.2376978306603231 C0085215 Ovarian Failure, Premature 1195 3 0.820083458484677 C0086367 Gonadotropin-Resistant Ovary Syndrome 1195 3 0.9067277833714096 C3494522 Hypergonadotropic Ovarian Failure, X-Linked 1195 3 0.8832835906197413 C1856186 Deafness enamel hypoplasia nail defects 1185 3 0.6288658466344144 C1865803 Peroxisome Biogenesis Disorder, Complementation Group 1 1185 3 0.8349919383499697 C1865804 Peroxisome Biogenesis Disorder, Complementation Group E 1185 3 0.8349919383499697 C3151055 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE 1182 3 0.9993123421193053 C3502131 Adrenal Insufficiency, Congenital 1182 3 0.9996563911001033 C3502132 Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal 1182 3 0.9996563911001033 C0018054 Gonadal Dysgenesis, 46,XY 1177 3 0.5407772285327186 C0432475 XX males 1177 3 0.2239661574993518 C2936694 Swyer Syndrome 1177 3 0.5628500957661687 C2931347 Cardiac form of generalized glycogenosis 1172 3 1.0 C3888924 Glycogen storage disease due to acid maltase deficiency, infantile onset 1172 3 1.0 C3888925 Pompe\'s disease adult onset 1172 3 1.0 C0017921 Glycogen storage disease type II 1171 3 0.12514469951433416 C0342751 Generalized glycogen storage disease of infants 1171 3 -0.19881730059752264 C0751173 Glycogen Storage Disease Type II, Infantile 1171 3 0.3443107080447208 C1832243 CARDIOMYOPATHY, DILATED, 1D (disorder) 1169 3 1.0 C1861864 Cardiomyopathy, Familial Hypertrophic, 2 1169 3 1.0 C2676271 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 1169 3 1.0 C0032027 Pityriasis Rubra Pilaris 1168 3 0.9995933153685531 C1304140 Familial psoriasis 1168 3 0.9997966453559083 C1864497 PSORIASIS 2 1168 3 0.9997966453559083 C0020501 Primary Hyperoxaluria 1167 3 0.5269659889537024 C0268165 Primary hyperoxaluria type 2 1167 3 0.16872734205213574 C3150878 Primary hyperoxaluria type III 1167 3 0.1928239305863619 C0268621 Hepatic methionine adenosyltransferase deficiency 1163 3 0.5915601943124973 C3151058 S-adenosylhomocysteine hydrolase deficiency 1163 3 0.5574069566356167 C4048705 Hypermethioninemia 1163 3 0.5910664988643939 C0271528 Isosexual precocious puberty 1157 3 1.0 C3553841 HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA 1157 3 1.0 C3805879 PRECOCIOUS PUBERTY, CENTRAL, 1 1157 3 1.0 C0020529 Hypersomnia with Periodic Respiration 1151 3 0.7747722632169614 C0037315 Sleep Apnea Syndromes 1151 3 0.6261549326053386 C0338495 Sleep Apnea, Mixed Central and Obstructive 1151 3 0.7747722632169614 C2749861 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 1148 3 1.0 C2751319 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 1148 3 1.0 C3150172 MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 1148 3 1.0 C2749862 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related 1147 3 0.513921222372273 C3501849 Mngie Without Leukoencephalopathy 1147 3 0.8595560550091821 C3711125 Mitochondrial DNA Depletion Syndrome 8A 1147 3 0.8595560550091821 C0872218 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 1146 3 0.8942099611364968 C4476617 Autonomic visceral myopathy 1146 3 0.9424078499136811 C4476618 Degenerative enteric myopathy 1146 3 0.9424078499136811 C1836439 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 1145 3 0.9991926175330871 C1849096 Infantile onset spinocerebellar ataxia 1145 3 0.9983866171651629 C4015307 PERRAULT SYNDROME 5 1145 3 0.9991926175330871 C0085543 Epilepsia Partialis Continua 1144 3 0.5822663552661869 C1834846 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 1144 3 0.20163982172977502 C1843851 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1144 3 0.5711569172484499 C0175707 Asplenia Syndrome 1135 3 0.5132530640921176 C3151221 TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3 1135 3 0.5597699900588633 C3178805 Heterotaxy Syndrome 1135 3 0.6408180697093148 C1876171 Polyasplenia 1134 3 1.0 C1876172 VAH, AUTOSOMAL RECESSIVE 1134 3 1.0 C1876173 Heterotaxy, Visceroatrial, Autosomal Recessive 1134 3 1.0 C0280028 Refractory anemia with excess blasts in transformation (clinical) 1132 3 0.4271545911142989 C2981142 Refractory anemia, without ringed sideroblasts, without excess blasts 1132 3 -0.19870393161390473 C4015323 LEUKODYSTROPHY, HYPOMYELINATING, 9 1132 3 0.4915720836967764 C0013374 Dysgammaglobulinemia 1130 3 0.4968267554304996 C0162539 IgG Deficiency disorder 1130 3 0.42012398855760197 C3279824 Kappa-Chain Deficiency 1130 3 0.6549700904767264 C0265341 Rieger syndrome 1127 3 0.7490744468327755 C3495488 Axenfeld-Rieger syndrome 1127 3 0.8425935205777315 C3495489 Rieger eye malformation sequence 1127 3 0.8584904938658368 C1842031 IRIDOGONIODYSGENESIS, TYPE 2 1126 3 0.8054257214739324 C1867155 RING DERMOID OF CORNEA 1126 3 0.8054257214739324 C3714873 Axenfeld-Rieger Syndrome, Type 1 1126 3 0.2581346658967178 C0268505 Ocular albinism, type II 1123 3 0.9638620005550408 C1845407 CONE-ROD DYSTROPHY, X-LINKED, 3 1123 3 0.9638620005550408 C4073107 Incomplete congenital stationary night blindness 1123 3 0.9261056152559028 C2677713 Ichthyosis, X-Linked, Complicated 1117 3 0.9556819931915008 C2720163 Placental Steroid Sulfatase Deficiency 1117 3 0.910042577558345 C4274085 Syndromic recessive X-linked ichthyosis 1117 3 0.9556819931915008 C1852759 Papillorenal syndrome 1115 3 1.0 C2608080 RENAL HYPOPLASIA, ISOLATED (disorder) 1115 3 1.0 C4014925 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 1115 3 1.0 C3553989 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 1112 3 0.2772555109619926 C4015635 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T 1112 3 0.5676995580102657 C4310763 SPINOCEREBELLAR ATAXIA 43 1112 3 0.10241334539682348 C1836182 Chondrodysplasia, acromesomelic, with genital anomalies 1111 3 1.0 C4225183 BRACHYDACTYLY, TYPE A1, D 1111 3 1.0 C4225404 ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 1111 3 1.0 C0265260 Chondrodysplasia, Grebe type 1110 3 0.7445442408389428 C1300268 Brachydactyly syndrome type C 1110 3 0.8229665189170458 C1856738 Fibular hypoplasia and complex brachydactyly 1110 3 0.7437432028301189 C1832708 MULTIPLE SYNOSTOSES SYNDROME 2 1109 3 1.0 C3554446 BRACHYDACTYLY, TYPE A1, C 1109 3 1.0 C3809104 SYMPHALANGISM, PROXIMAL, 1B 1109 3 1.0 C0175700 Multiple synostosis syndrome 1107 3 0.7230158543322864 C0342282 Multiple synostoses syndrome 1 1107 3 0.801140579713652 C1861385 SYMPHALANGISM, PROXIMAL 1107 3 0.28870098984799647 C0263746 Osteoarthritis of the hand 1105 3 0.2822629998150747 C1837481 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related 1105 3 0.7595946092487266 C1846843 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 1105 3 0.7595946092487266 C0002873 Anemia of chronic disease 1103 3 0.631678303791508 C0034902 Pure Red-Cell Aplasia 1103 3 0.8017850725574002 C1865616 HEMOCHROMATOSIS, TYPE 2B 1103 3 0.8250889217798998 C0149530 Congenital heart block 1102 3 0.5267841265110135 C0151449 Primary Sjögren\'s syndrome 1102 3 0.04651040590251926 C0409979 Neonatal Systemic lupus erythematosus 1102 3 0.5556277680528193 C0751753 Carbamoyl-Phosphate Synthase I Deficiency Disease 1094 3 0.9997329000138784 C4082171 Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 1094 3 0.9998664458806368 C4085580 Carbamoyl Phosphate Synthase 1 Deficiency 1094 3 0.9998664458806368 C0026896 Myasthenia Gravis 1092 3 0.8726782365244581 C0751339 Myasthenia Gravis, Generalized 1092 3 0.9326947292984857 C0751340 Myasthenia Gravis, Ocular 1092 3 0.9320947023976424 C1843808 CARDIOMYOPATHY, DILATED, 1M 1090 3 1.0 C2677491 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 1090 3 1.0 C4025009 Impaired myocardial contractility 1090 3 1.0 C0242287 Isaacs syndrome 1084 3 0.44808919763716776 C0751919 Acquired Neuromyotonia 1084 3 0.8867161468428226 C2932678 Inherited Peripheral Neuropathy 1084 3 0.8785976404641749 C1853995 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 1081 3 0.900833527316034 C1865926 Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 1081 3 0.8183280492987548 C1868682 Paroxysmal kinesigenic choreoathetosis 1081 3 0.8238441842904536 C1832466 CAPOS syndrome 1080 3 0.8082284694286048 C1868681 DYSTONIA 12 1080 3 0.8881787002829464 C3553788 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 1080 3 0.8891807681023269 C1865322 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 1077 3 0.9986309928846427 C1865323 Migraine, Familial Basilar 1077 3 0.9993483083046233 C3549447 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 1077 3 0.9993483083046233 C0270860 Basilar-Type Migraine 1076 3 0.25261010316084404 C0270862 Hemiplegic migraine 1076 3 0.5529862300163528 C0338484 Familial Hemiplegic Migraine 1076 3 0.2339266551635054 C1832560 RIPPLING MUSCLE DISEASE 2 (disorder) 1075 3 0.8774240219244345 C2678485 LONG QT SYNDROME 9 (disorder) 1075 3 0.9142951824589022 C3280443 MYOPATHY, DISTAL, TATEYAMA TYPE 1075 3 0.4566869391734209 C1833382 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 1069 3 0.2932281659088333 C1836780 PANCREATIC AND CEREBELLAR AGENESIS 1069 3 0.28009777168357836 C1850096 Pancreatic Agenesis, Congenital 1069 3 0.6717798979190753 C0023213 Ventricular Outflow Obstruction, Left 1064 3 1.0 C0042512 Ventricular Outflow Obstruction 1064 3 1.0 C0751864 MPTP-Induced Degeneration of the Striatum 1064 3 1.0 C0271714 Hypoglycemia, leucine-induced 1062 3 1.0 C1835887 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 1062 3 1.0 C4274080 Autosomal dominant hyperinsulinism due to SUR1 deficiency 1062 3 1.0 C1833102 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES 1059 3 0.7858444262284388 C1833104 DIABETES MELLITUS, PERMANENT NEONATAL 1059 3 0.6547326668620399 C1853564 Developmental Delay, Epilepsy, and Neonatal Diabetes 1059 3 0.6526422723063499 C0085569 Metabolic acidosis, NAG, acidifying salts 1054 3 0.8628476839644287 C0268435 Renal Tubular Acidosis, Type II 1054 3 0.6050004195889871 C1970309 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation 1054 3 0.891786331379221 C0002891 Anemia, Neonatal 1052 3 1.0 C1866810 ELLIPTOCYTOSIS 3 1052 3 1.0 C2674219 SPHEROCYTOSIS, HEREDITARY, 2 1052 3 1.0 C1839028 Mitochondrial Myopathy with Diabetes 1047 3 0.3389560570764341 C3151898 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 1047 3 0.5786318294775631 C3278664 LIVER FAILURE, INFANTILE, TRANSIENT 1047 3 -0.12010217163380388 C0270855 Early myoclonic encephalopathy 1041 3 0.4467736328480076 C0752324 Focal Tonic Seizures 1041 3 0.7361462163959118 C4225360 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 1041 3 0.4283541506374561 C1969056 LEOPARD SYNDROME 2 1033 3 1.0 C1969057 Noonan Syndrome 5 1033 3 1.0 C4014656 CARDIOMYOPATHY, DILATED, 1NN 1033 3 1.0 C0338503 Septo-Optic Dysplasia 1031 3 -0.16336113673930933 C0948740 Hypoplasia of the pituitary gland 1031 3 0.5360899670947916 C2751608 Pituitary Hormone Deficiency, Combined, 1 1031 3 0.27453070213055975 C0002884 Hypochromic anemia 1030 3 0.49288060004750484 C2673913 Anemia, Hypochromic Microcytic, With Iron Overload 1030 3 0.6277283849723938 C3806153 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 1030 3 0.6686264157314609 C1704272 Benign Prostatic Hyperplasia 1024 3 0.5881553537130132 C1739363 Prostatic Hypertrophy 1024 3 0.520484192564409 C2937421 Prostatic Hyperplasia 1024 3 0.5826130913334986 C0035934 Rubinstein-Taybi Syndrome 1019 3 0.5975709126246789 C0302486 Erythrophagocytosis 1019 3 0.4640616262681068 C1864648 CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL 1019 3 0.6594294626506643 C0265218 Neu-Laxova syndrome 1008 3 0.4272086722890126 C0580190 3-Phosphoglycerate dehydrogenase deficiency 1008 3 0.886596251260698 C1866174 Phosphoglycerate Dehydrogenase Deficiency 1008 3 0.886596251260698 C0432253 Bruck syndrome 1006 3 0.7474477853062812 C1836602 Bruck syndrome 2 1006 3 0.7092636895634272 C1850168 Bruck syndrome 1 1006 3 -0.5278768831732523 C0020681 Sleep-related respiratory failure 999 3 1.0 C0745186 hypoventilation syndrome 999 3 1.0 C2751683 Hirschsprung disease ganglioneuroblastoma 999 3 1.0 C0271829 Pendred\'s syndrome 993 3 0.7774531831124953 C0342162 Compensated hypothyroidism 993 3 0.51635057976103 C3538946 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 993 3 0.7405127102210545 C0238051 Cerebral Angiitis 990 3 0.6075693941197113 C0268125 Purine-nucleoside phosphorylase deficiency 990 3 0.7941676321980821 C1744558 T-lymphocyte deficiency 990 3 0.7941676321980821 C3150700 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 985 3 0.7274649641150404 C4225434 CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL 985 3 0.5370699789047225 C4304529 5q14.3 microdeletion syndrome 985 3 0.6635328148757683 C2676727 Chromosome 1q43-Q44 Deletion Syndrome 984 3 0.8780870026494487 C3808184 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 984 3 0.8161607633831922 C4273897 Distal monosomy 1q 984 3 0.8426823480739919 C0857007 Hyperbilirubinemia, Neonatal 982 3 0.7606324360864832 C1565885 Direct Hyperbilirubinemia, Neonatal 982 3 0.9273787832393894 C1565886 Indirect Hyperbilirubinemia, Neonatal 982 3 0.9273787832393894 C0010324 Crigler Najjar syndrome, type 1 981 3 0.8394461819402333 C0270210 Lucey-Driscoll syndrome (disorder) 981 3 0.39893816404341165 C2931132 Crigler Najjar syndrome, type 2 981 3 0.8067734964384026 C0023817 Hyperlipoproteinemia Type I 978 3 0.8365651618876562 C1261969 Type I hyperlipidaemia 978 3 0.939650428157356 C2931862 Familial hyperchylomicronemia syndrome 978 3 0.939650428157356 C1274228 Chylomicronemia syndrome 977 3 0.1772955585516702 C1855498 Lipase deficiency combined 977 3 -0.1444570046572897 C4014767 HYPERLIPOPROTEINEMIA, TYPE ID 977 3 -0.11687904109184909 C0017920 Glycogen Storage Disease Type I 975 3 0.8965817042091475 C0029438 Massive Osteolyses 975 3 0.9413069601199054 C2919796 Glycogen storage disease type Ia 975 3 0.9525296769022588 C0002735 Oppenheim\'s Disease 972 3 0.6460526699610827 C0027868 Neuromuscular Diseases 972 3 0.5249161850635937 C0751381 Foley-Denny-Brown Syndrome 972 3 0.6460526699610827 C0017536 Giardiasis 971 3 0.7029823815844127 C0398562 Triose phosphate isomerase deficiency 971 3 0.8154253186796703 C1860808 Triosephosphate Isomerase Deficiency 971 3 0.8154253186796703 C3809006 CARDIOFACIOCUTANEOUS SYNDROME 3 968 3 -0.044681902698250266 C4073145 Hyperkeratosis pilaris 968 3 0.6092016001181005 C4225282 NOONAN SYNDROME 9 968 3 0.3194107486488001 C1842675 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 959 3 0.6233561816196592 C2750729 Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 959 3 0.8203467912697964 C3539195 TREMOR, HEREDITARY ESSENTIAL, 4 959 3 0.8203467912697964 C0013423 Dystonia Musculorum Deformans 950 3 0.23166978625628956 C1997740 Segmental dystonia 950 3 0.43799549855031084 C2875058 Familial torsion dystonia 950 3 0.5394380145597845 C0154676 Organic writer\'s cramp 948 3 0.14318091640411917 C1834570 Myoclonic dystonia 948 3 0.5935597966934463 C3697670 Spinal cord myoclonus 948 3 0.5457101255958811 C0478093 Other congenital malformation syndromes with other skeletal changes 937 3 0.9560038819681063 C1849437 Mainzer-Saldino Disease 937 3 0.9012147296153906 C4540439 RETINITIS PIGMENTOSA 80 937 3 0.9560038819681063 C0272350 Dysfibrinogenemia, Congenital 934 3 0.8517798756666627 C1859970 Hypodysfibrinogenemia, Congenital 934 3 0.8470576860250706 C2584774 Congenital hypofibrinogenemia 934 3 0.3820248414219435 C1865643 Cholestasis, progressive familial intrahepatic 3 929 3 0.9995862957698269 C2609268 Low phospholipid-associated cholelithiasis 929 3 0.9991717793595999 C3554241 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 929 3 0.9995862957698269 C0268146 Glucose-6-phosphate transport defect 924 3 0.9893526945350989 C0342749 GLYCOGEN STORAGE DISEASE Ic 924 3 0.9946606070222519 C0342750 Glycogen storage disease type Id 924 3 0.9946606070222519 C0024131 Lupus Vulgaris 921 3 0.8907523817339938 C0024138 Lupus Erythematosus, Discoid 921 3 0.7933361592681518 C0409974 Lupus Erythematosus 921 3 0.8960764006613194 C0002395 Alzheimer\'s Disease 920 3 0.7918116861187212 C0276496 Familial Alzheimer Disease (FAD) 920 3 0.8837877429070344 C0750901 Alzheimer Disease, Early Onset 920 3 0.8867242798750387 C0158683 Polycystic liver disease 916 3 0.5446555302255967 C4310613 POLYCYSTIC LIVER DISEASE 1 916 3 0.28097223288324835 C4310769 POLYCYSTIC LIVER DISEASE 2 916 3 0.3010032353390605 C0022680 Polycystic Kidney Diseases 915 3 0.05851999934951362 C0030283 Pancreatic Cyst 915 3 0.09156354611377121 C0267834 Liver cyst 915 3 0.3012900130798916 C1847902 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 914 3 1.0 C1847903 Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 914 3 1.0 C3809272 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 914 3 1.0 C1861863 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 907 3 1.0 C2678476 Cardiomyopathy, Dilated, 1y 907 3 1.0 C3808145 LEFT VENTRICULAR NONCOMPACTION 9 907 3 1.0 C1836448 Nemaline myopathy 1 906 3 1.0 C2750414 CAP MYOPATHY, TPM3-RELATED (disorder) 906 3 1.0 C3714994 CAP MYOPATHY 1 906 3 1.0 C0206157 Myopathies, Nemaline 905 3 0.23377173802449006 C0546125 Nemaline Myopathy, Childhood Onset 905 3 0.4783567769891578 C3710589 Cap Myopathy 905 3 -0.23720934962518309 C1836447 Nemaline myopathy 4 904 3 1.0 C2750413 Cap Myopathy, Tpm2-Related 904 3 1.0 C3807907 CAP MYOPATHY 2 904 3 1.0 C1832588 Chromosome 11p11.2 Deletion Syndrome 899 3 0.07830883431261354 C1865044 PARIETAL FORAMINA 2 899 3 0.7487890370512973 C3150703 FRONTONASAL DYSPLASIA 2 899 3 0.7487890370512973 C0406811 Reticulate acropigmentation of Kitamura 897 3 0.6744341990884284 C3714534 dowling-degos disease 897 3 -0.23373296421536385 C3810041 ALZHEIMER DISEASE 18 897 3 0.5402396229866435 C1836284 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 896 3 1.0 C4024851 Punctate palmoplantar hyperkeratosis 896 3 1.0 C4024872 Progressive reticulate hyperpigmentation 896 3 1.0 C0343111 Naegeli syndrome 895 3 1.0 C3715082 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 895 3 1.0 C4021831 Hypohidrosis or hyperhidrosis 895 3 1.0 C0342488 Mineralocorticoid Excess Syndrome, Apparent 893 3 0.9478416376228934 C2936861 Cortisol 11-beta-ketoreductase deficiency 893 3 0.9460125033708048 C3887949 Apparent mineralocorticoid excess 893 3 0.8564809549942711 C1841972 Glucocorticoid Receptor Deficiency 891 3 0.9927601585830177 C1841973 Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance 891 3 0.9963818010290002 C2930863 Primary cortisol resistance 891 3 0.9963818010290002 C0751267 Encephalopathy, Subacute Necrotizing, Infantile 881 3 0.857674198972885 C0751268 Encephalopathy, Subacute Necrotizing, Juvenile 881 3 0.8675508088432191 C1855038 Hepatocellular necrosis 881 3 0.7549663395038722 C0206138 CREST Syndrome 878 3 0.8950016376318017 C0748540 Scleroderma, Limited 878 3 0.8699461372542555 C1258104 Diffuse Scleroderma 878 3 0.7959991160811233 C0406556 Hereditary acrokeratotic poikiloderma of Weary 875 3 0.9998800359880042 C0406557 Poikiloderma of Kindler 875 3 0.9997600815698676 C4024863 Diffuse skin atrophy 875 3 0.9998800359880042 C0393808 Charcot-Marie-Tooth disease, X-linked, 1 873 3 0.06324389317037231 C0796205 SPINOCEREBELLAR ATAXIA, X-LINKED 1 873 3 0.598042981257952 C2678048 Spinocerebellar Ataxia, X-Linked 5 873 3 0.12215868177455817 C1852577 FEBRILE CONVULSIONS, FAMILIAL, 1 (disorder) 865 3 0.7686061981518031 C1858493 FEBRILE CONVULSIONS, FAMILIAL, 4 865 3 0.7686061981518031 C2931213 Usher syndrome, type 2C 865 3 0.29239864051618736 C0339534 Usher syndrome type 2 864 3 0.38304931576176277 C1568249 Usher Syndrome, Type II 864 3 0.632976680289457 C1846839 DEAFNESS, AUTOSOMAL RECESSIVE 31 864 3 0.5999571585459018 C1848604 USHER SYNDROME, TYPE IC 863 3 1.0 C1865870 Deafness, Autosomal Recessive 18 863 3 1.0 C2931207 Usher syndrome, type 1C 863 3 1.0 C1848638 USHER SYNDROME, TYPE IB (disorder) 861 3 0.9429931158741602 C1848639 USHER SYNDROME, TYPE IA, FORMERLY 861 3 0.9812096156815548 C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 861 3 0.9812096156815548 C1836027 Deafness, Autosomal Recessive 23 858 3 1.0 C1865885 Usher Syndrome, Type IF 858 3 1.0 C2931210 Usher syndrome, type 1F 858 3 1.0 C0270736 Essential Tremor 852 3 0.5464091227042035 C0393615 Familial Tremor 852 3 0.6111263431041652 C3810400 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 852 3 0.08425671391134876 C1836522 Schindler Disease, Type II 851 3 1.0 C1836544 Schindler Disease, Type I 851 3 1.0 C1836545 Schindler Disease, Type III 851 3 1.0 C0019099 Hemorrhagic Fever, Crimean 845 3 0.8495692779949102 C2062416 Sindbis virus infection 845 3 0.46344353527434035 C4015293 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 845 3 0.8495692779949102 C0032461 Polycythemia 844 3 0.3964866500659292 C0152264 Familial erythrocytosis 844 3 0.16401170177288724 C1868945 Polyglobulia 844 3 -0.04673501290061726 C0268405 Hemodialysis-associated amyloidosis 843 3 0.9995847969407822 C1855796 Hypoproteinemia, Hypercatabolic 843 3 0.9991698374090562 C4302669 Autosomal dominant beta2-microglobulinic amyloidosis 843 3 0.9995847969407822 C0751915 Pelizaeus-Merzbacher Disease, Atypical 842 3 -0.06237825017840796 C0751916 Classic Pelizaeus-Merzbacher Disease 842 3 0.8141384415420143 C0751917 Pelizaeus-Merzbacher Disease, Transitional 842 3 0.8617814500202288 C0477325 Immunodeficiency associated with other specified major defects 839 3 0.691051323588151 C1866426 T-cell immunodeficiency, congenital alopecia and nail dystrophy 839 3 0.3026283372600724 C2677792 Riddle Syndrome 839 3 0.33586652047177323 C1861827 Cataract, Nuclear Diffuse Nonprogressive 835 3 1.0 C3805411 CATARACT 30 835 3 1.0 C4024821 Diffuse nuclear cataract 835 3 1.0 C0574083 3-Methylglutaconic aciduria type 2 833 3 0.7260689491801807 C1533847 Disorder of skeletal muscle 833 3 0.2552427363235237 C1844917 Intermittent lactic acidemia 833 3 0.7452101373728698 C0036310 Scheuermann\'s Disease 829 3 0.4999999999999999 C0265211 Marshall-Smith syndrome 829 3 0.8200569756647982 C3553660 SOTOS SYNDROME 2 829 3 0.8200569756647982 C0339651 Horizontal gaze palsy 827 3 0.9666845092685129 C1846496 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis 827 3 0.9271871010126558 C2062713 Progressive ophthalmoplegia 827 3 0.9666845092685129 C1838103 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 823 3 0.7321760250159568 C1838114 Generalized limb muscle atrophy 823 3 0.38499870284385157 C3150802 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 823 3 0.7245721207629258 C0268255 Farber Lipogranulomatosis 818 3 0.9386606921630369 C1704214 Lipogranuloma 818 3 0.9748766781787006 C1834569 Jankovic Rivera syndrome 818 3 0.9748766781787006 C0221207 Urticaria due to cold 814 3 1.0 C3280914 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 814 3 1.0 C3553961 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 814 3 1.0 C1849115 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 811 3 0.9731287373468499 C2931356 Spastic paraplegia type 5A, recessive 811 3 0.9851970623032484 C3151147 Bile Acid Synthesis Defect, Congenital, 3 811 3 0.9859981793475688 C0206145 Stunned Myocardium 800 3 0.999445265808033 C0206146 Myocardial Stunning 800 3 0.9988911463372175 C0376416 Hibernation, Myocardial 800 3 0.999445265808033 C0022575 Keratoconjunctivitis Sicca 798 3 0.9951472524328929 C0043349 Xerophthalmia 798 3 0.997567866970376 C2930821 Keratitis sicca 798 3 0.997567866970376 C0339541 Goldmann-Favre syndrome (disorder) 795 3 0.984505291641177 C1849394 Enhanced S-Cone Syndrome 795 3 0.9667430430395695 C1970163 RETINITIS PIGMENTOSA 37 (disorder) 795 3 0.962344475813138 C0339510 Vitelliform Macular Dystrophy 793 3 0.8233657329572984 C1842914 Adult-Onset Vitelliform Macular Dystrophy 793 3 0.8283560327766557 C2745945 Juvenile-Onset Vitelliform Macular Dystrophy 793 3 0.7253407515262078 C0029128 Optic Disk Drusen 792 3 0.20550470039106183 C1836006 NANOPHTHALMOS 2 (disorder) 792 3 0.8599539647022699 C1970236 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 792 3 0.8599539647022699 C1272174 Scotopic sensitivity 791 3 1.0 C1864869 Night Blindness, Congenital Stationary, Autosomal Dominant 1 791 3 1.0 C3151001 Retinitis Pigmentosa 4 791 3 1.0 C0043167 Pertussis 785 3 0.6912462089672032 C0043168 Whooping cough due to unspecified organism 785 3 0.28291312439684885 C4015695 LONG QT SYNDROME 15 785 3 0.547801524240991 C2750466 Cardiomyopathy, Dilated, 1EE 783 3 1.0 C2750467 Cardiomyopathy, Familial Hypertrophic, 14 783 3 1.0 C3279790 Atrial Septal Defect 3 783 3 1.0 C0085612 Ventricular arrhythmia 782 3 0.23372798040210413 C0349788 Arrhythmogenic Right Ventricular Dysplasia 782 3 0.5191472778343972 C2063326 Right ventricular cardiomyopathy 782 3 0.530577282276811 C0694539 Chronic atrial fibrillation 776 3 0.3908464338762619 C3279693 ATRIAL FIBRILLATION, FAMILIAL, 11 776 3 0.5675442384934412 C4021885 Atrial cardiomyopathy 776 3 0.5675442384934412 C0238357 Hyperkalemic periodic paralysis 772 3 -0.19516692537879207 C0238358 Hypokalemic periodic paralysis 772 3 0.7694109468883786 C3714580 Hypokalemic periodic paralysis type 1 772 3 0.6652086315805826 C0340485 Familial ventricular tachycardia 769 3 0.4752232311595044 C1631597 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 769 3 0.3177747476805047 C2677794 Stress-induced polymorphic ventricular tachycardia 769 3 0.5970727536649647 C1563715 Andersen Syndrome 767 3 0.7380505219137307 C1865018 Short QT Syndrome 3 767 3 0.8144910935639863 C3151431 ATRIAL FIBRILLATION, FAMILIAL, 9 767 3 0.8454787802995483 C1862394 Atrial Fibrillation, Familial, 4 766 3 0.9039762451165609 C2732979 Acquired long QT syndrome 766 3 0.7226407697041758 C3150953 Long Qt Syndrome 6 766 3 0.9039762451165609 C0264893 Nodal rhythm disorder 764 3 0.9999999999999991 C0348626 Other specified cardiac arrhythmias 764 3 0.9999999999999991 C1399226 Ectopic rhythm 764 3 0.9999999999999991 C0041316 Lymph Node Tuberculosis 756 3 0.6827599555298884 C0041326 Pleural Tuberculosis 756 3 0.14469958798503868 C0206525 Tuberculosis, Drug-Resistant 756 3 0.6568205172927352 C0581384 Chronic anemia 753 3 1.0 C1142276 Renal anemia 753 3 1.0 C1442826 Neonatal necrotizing enterocolitis 753 3 1.0 C0282488 Interstitial Cystitis 742 3 0.777128840942785 C0600040 Chronic interstitial cystitis 742 3 0.8729709659292256 C1720830 Painful Bladder Syndrome 742 3 0.8705567128059806 C0151860 Acquired porencephaly 739 3 0.7212362652483564 C1867983 PORENCEPHALY, FAMILIAL 739 3 0.8638183306067212 C4082173 Porencephaly 739 3 0.8350679879689631 C1853116 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 736 3 1.0 C2751807 Emery-Dreifuss Muscular Dystrophy 4 736 3 1.0 C3683483 Autosomal Recessive Cerebellar Ataxia Type 1 736 3 1.0 C0007194 Hypertrophic Cardiomyopathy 733 3 0.22620869394767568 C0597124 Obstructive asymmetric septal hypertrophy 733 3 0.17563490499997078 C0949658 Cardiomyopathy, Hypertrophic, Familial 733 3 0.22609807926612985 C1833429 D-2-hydroxyglutaric aciduria 727 3 0.7690668706639195 C3150909 D-2-HYDROXYGLUTARIC ACIDURIA 2 727 3 0.3286182771296225 C3152055 D-2-HYDROXYGLUTARIC ACIDURIA 1 727 3 0.5957431952119965 C0014084 Enchondromatosis 726 3 0.3584150682868974 C0024454 Maffucci Syndrome 726 3 0.5486255438897298 C3553958 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA 726 3 0.6091163941300523 C0263627 Calcinosis universalis 720 3 0.9898149399542363 C0282102 Chondrodysplasia punctata, X-linked dominant type 720 3 0.9758431221748454 C4085243 MEND SYNDROME 720 3 0.9898149399542363 C1290587 Failure of tooth eruption 719 3 1.0 C1838779 Eiken Skeletal Dysplasia 719 3 1.0 C1852222 Failure of Tooth Eruption, Primary 719 3 1.0 C2674504 Palmoplantar Hyperkeratosis And True Hermaphroditism 715 3 0.8440641391986548 C3502495 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 715 3 0.8440641391986548 C3670629 Orthokeratotic hyperkeratosis 715 3 0.6939368978354226 C0017612 Glaucoma, Open-Angle 706 3 0.9176231352915618 C0271148 Secondary Open Angle Glaucoma 706 3 0.9130639727499217 C0339573 Glaucoma, Primary Open Angle 706 3 0.8729406052878422 C1622345 Meretoja syndrome 703 3 0.995965984222995 C1628319 Lattice corneal dystrophy Type II 703 3 0.9979769960344356 C2751493 Cerebral Amyloid Angiopathy, Gsn-Related 703 3 0.9979769960344356 C1843075 Charcot-Marie-Tooth Disease, Dominant Intermediate D 691 3 0.8468490603049523 C1843153 Charcot-Marie-Tooth disease, Type 2J 691 3 0.8468490603049523 C3888087 Charcot-Marie-Tooth disease, Type 2I 691 3 0.7490668406613542 C1408174 Hypertrophic neuropathy of infancy 689 3 0.9999999999999986 C1408182 Hereditary motor and sensory neuropathy, types I-IV 689 3 0.9999999999999986 C2875300 Peroneal muscular atrophy (axonal type) (hypertrophic type) 689 3 0.9999999999999986 C0265010 Ruptured thoracic aortic aneurysm 684 3 1.0 C0265012 Ruptured abdominal aortic aneurysm 684 3 1.0 C1305122 Thoracoabdominal aortic aneurysm, ruptured 684 3 1.0 C0026654 Moyamoya Disease 680 3 0.6655290714581548 C1846689 MOYAMOYA DISEASE 2 680 3 0.6836109900131213 C2931384 Moyamoya disease 1 680 3 0.7093672519116213 C3279664 Emberger syndrome 675 3 1.0 C3280030 GATA2 Deficiency 675 3 1.0 C3711382 Familial Acute Myeloid Leukemia with Mutated Cebpa 675 3 1.0 C0030481 Tropical Spastic Paraparesis 669 3 0.7825710467700424 C1836724 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder) 669 3 0.8858087713907828 C2750448 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 669 3 0.8858087713907828 C0041408 Turner Syndrome 667 3 0.8796930430457222 C0242526 Gonadal Dysgenesis, 45,X 667 3 0.9337494341693557 C1527168 Bonnevie-Ullrich Syndrome 667 3 0.9301641496296009 C0029125 Optic Atrophies, Hereditary 666 3 0.8345644831608175 C1839040 LEBER OPTIC ATROPHY AND DYSTONIA 666 3 0.8360800798989169 C4304725 Leber plus disease 666 3 0.694539227517883 C0031111 Periostitis 665 3 0.9913935913667882 C0524988 Schnitzler Syndrome 665 3 0.9888710994603438 C2748507 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 665 3 0.9957043298961112 C0220659 Acrodysostosis 657 3 0.8241677737172741 C3276228 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE 657 3 -0.16389526182823616 C3553250 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE 657 3 0.7720990443266798 C0268618 Cystathioninemia 651 3 0.6261277013972278 C1848561 Methylmalonic acidemia with homocystinuria 651 3 0.2482599431999349 C1848578 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) 651 3 0.2899897720670095 C0001197 Acrodermatitis 650 3 0.7715142398895035 C0221036 Acrodermatitis enteropathica 650 3 0.4785952375210708 C0263372 Gianotti-Crosti Syndrome 650 3 0.758742228236008 C0002874 Aplastic Anemia 649 3 0.5901995607011472 C0178416 Hypoplastic anemia 649 3 0.6198763860470586 C0348890 Aplastic anemia, idiopathic 649 3 0.45142364766888704 C0038605 Subungual hyperkeratosis 647 3 0.12349593724483938 C2609071 Olmsted syndrome 647 3 0.6115441670349493 C4225339 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 647 3 0.6389246684184573 C0796012 Krause-Kivlin syndrome 645 3 0.27075155351078234 C1844579 Exudative Vitreoretinopathy, Familial, X-Linked Recessive 645 3 0.06364462620958879 C4024788 Anterior chamber synechiae 645 3 0.6250101944893658 C0022904 Lacrimal Apparatus Diseases 644 3 0.776674791710952 C0152227 Excessive tearing 644 3 0.5102236067263464 C1970027 Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 644 3 0.776674791710952 C4225370 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 635 3 1.0 C4225371 MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL 635 3 1.0 C4225372 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL 635 3 1.0 C0004782 Basal Ganglia Diseases 628 3 0.8582926301108811 C0015371 Extrapyramidal Disorders 628 3 0.7655680214129266 C0750951 Lenticulostriate Disorders 628 3 0.8643775304349076 C2677877 Surfactant Metabolism Dysfunction, Pulmonary, 4 622 3 0.3535460315848249 C2931035 Pulmonary alveolar proteinosis, congenital 622 3 0.7010064470016536 C3280574 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 622 3 0.3343465929888127 C0014078 Venezuelan equine encephalomyelitis 620 3 0.6221572821299786 C0275524 Coinfection 620 3 0.37299630712862025 C0276623 Chronic viral hepatitis 620 3 0.6052393843629835 C1855648 KENNY-CAFFEY SYNDROME, TYPE 1 616 3 0.9990504895209058 C1855840 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 616 3 0.9995469127726716 C4310667 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY 616 3 0.9995469127726716 C0342495 Macronodular adrenal hyperplasia 614 3 0.5687111613923593 C1857451 Acth-Independent Macronodular Adrenal Hyperplasia 614 3 -0.05936912691847838 C4014803 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 614 3 0.6554777932173166 C1859309 Syndactyly Cenani Lenz type 604 3 0.8357155055126663 C3280402 SCLEROSTEOSIS 2 604 3 0.9092710230453434 C4225377 MYASTHENIC SYNDROME, CONGENITAL, 17 604 3 0.9092710230453434 C0026707 Mucopolysaccharidosis IV 598 3 0.9845297634537332 C0086651 Mucopolysaccharidosis, MPS-IV-A 598 3 0.9659513527253764 C3179194 GALNS Deficiency 598 3 0.9609657479084741 C0038522 Subacute Sclerosing Panencephalitis 597 3 0.7063493783066593 C0085404 POEMS Syndrome 597 3 0.5852491760783035 C0156221 Acute glomerulonephritis 597 3 0.7890951737804504 C1863534 Stargardt disease 4 590 3 0.7923232625833374 C2675210 CONE-ROD DYSTROPHY 12 (disorder) 590 3 0.9384499988086357 C2677516 RETINITIS PIGMENTOSA 41 (disorder) 590 3 0.9384499988086357 C0017665 Membranous glomerulonephritis 589 3 0.49120330093183806 C0086445 Idiopathic Membranous Glomerulonephritis 589 3 0.6323777257800894 C1704378 Heymann Nephritis 589 3 0.6437088323977782 C0032269 Pneumococcal Infections 588 3 0.2159556364799022 C1835828 Invasive Pneumococcal Disease, Recurrent Isolated, 1 588 3 0.5508357419707705 C1843256 IRAK4 Deficiency 588 3 -0.14411104728402485 C1862937 AMYOTROPHIC LATERAL SCLEROSIS AND/OR FRONTOTEMPORAL DEMENTIA 1 582 3 0.7179597827326383 C3711380 Huntington Disease-Like Syndrome 582 3 0.6849211785798515 C3888102 Frontotemporal Dementia With Motor Neuron Disease 582 3 0.445749492798975 C1838644 Stargardt disease 3 578 3 0.8897922138617702 C1851481 Erythrokeratodermia with ataxia 578 3 0.9630267096025565 C3280856 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 578 3 0.9630267096025565 C1864900 Retinal Cone Dystrophy 3A 577 3 0.8575898266315448 C3552227 ACHROMATOPSIA 6 577 3 0.8575898266315448 C3665342 Progressive cone degeneration 577 3 0.7549496193588813 C0242852 Proliferative vitreoretinopathy 576 3 0.8723962637600372 C0474355 Peripheral retinal neovascularization 576 3 0.8042324568764777 C1850109 Vitreoretinopathy 576 3 0.5911328219081341 C0015526 Factor XII Deficiency 561 3 0.970897363014728 C1857728 Hereditary Angioedema Type III 561 3 0.9853275367424803 C1960459 Hereditary angioedema with normal C1 esterase inhibitor activity 561 3 0.9853275367424803 C0398775 Hereditary C1 esterase inhibitor deficiency - deficient factor 558 3 1.0 C0398776 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 558 3 1.0 C1852700 Complement Component 4, Partial Deficiency Of 558 3 1.0 C1862892 Hereditary Angioedema Type II 557 3 0.5570129071141456 C2717905 Hereditary Angioedema Types I and II 557 3 0.7461332922340903 C2717906 Hereditary Angioedema Type I 557 3 0.4850735096234576 C0342191 Familial dyshormonogenetic goiter 552 3 0.862527491884882 C0342194 Thyroid Dyshormonogenesis 3 552 3 0.7827759616504689 C1321809 HYPOTHYROIDISM, GOITROUS 552 3 0.29301253514214554 C0027662 Multiple Endocrine Neoplasia 551 3 0.9223835252926107 C0345244 Neuronal intestinal dysplasia 551 3 0.9599060098797502 C0878627 Mucosal neuromas 551 3 0.9599060098797502 C1855008 Mitochondrial Complex II Deficiency 543 3 0.7739732075926655 C4020801 Respiratory complex II deficiency 543 3 0.7038195613641884 C4025278 Stress/infection-induced lactic acidosis 543 3 0.8029417514500117 C1846009 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies 535 3 0.9986853482037406 C1859977 Adrenal Hypoplasia, Cytomegalic Type 535 3 0.9993422950979884 C3887743 WILMS TUMOR 2 535 3 0.9993422950979884 C0521648 Neonatal respiratory failure 534 3 1.0 C1970456 Surfactant Metabolism Dysfunction, Pulmonary, 3 534 3 1.0 C3161105 Neuroendocrine cell hyperplasia of infancy 534 3 1.0 C0400914 Acute hepatitis C 531 3 0.6261110645443679 C3887641 Recurrent hepatitis 531 3 0.49895779289241626 C4288963 Hepatitis C Virus Infection 531 3 0.3365397970214199 C3714932 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 518 3 0.7035716343580917 C3809216 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 518 3 0.6580359225190742 C3809221 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 518 3 0.8170220017721667 C1846672 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 515 3 0.9019463551975432 C1847759 MUSCULAR DYSTROPHY, CONGENITAL, 1C 515 3 0.9017876054966837 C3150413 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 515 3 0.7043975488648069 C3150411 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 514 3 0.6411331857370002 C3150416 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 514 3 0.807506899125178 C3150418 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 514 3 0.6914998959080981 C1969024 CARDIOMYOPATHY, DILATED, 1X 512 3 0.9366599214634904 C1969040 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M 512 3 0.9366599214634904 C2751052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 512 3 0.8331274404615924 C0037205 Sirenomelia 503 3 0.6016812845060548 C1838568 Sacral defect and anterior sacral meningocele 503 3 0.8414098490473976 C1838569 Caudal Dysgenesis Syndrome 503 3 0.8414098490473976 C0085652 Pyoderma Gangrenosum 500 3 0.6918009783286836 C1858361 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 500 3 0.846074601619638 C1860229 Hyperzincemia and Hypercalprotectinemia 500 3 0.8468162117375383 C0025289 Meningitis 488 3 0.4054667660952955 C0030167 Pachymeningitis 488 3 0.5842891022745549 C0085396 Neisseriaceae Infections 488 3 0.36184227237429056 C0149521 Pancreatitis, Chronic 482 3 0.607667691968452 C0238339 Hereditary pancreatitis 482 3 0.679838830712387 C4080064 Autosomal Dominant Hereditary Pancreatitis 482 3 0.5804737220382183 C0340100 High altitude pulmonary edema 473 3 0.9623565415098887 C0340552 High altitude pulmonary hypertension 473 3 0.9820151197518853 C3810403 MOYAMOYA DISEASE 6 WITH ACHALASIA 473 3 0.9820151197518853 C0024439 Macular corneal dystrophy 470 3 0.5071414334092669 C1636149 Macular dystrophy, corneal type 1 470 3 0.8606440409841078 C1691013 Macular corneal dystrophy Type II (disorder) 470 3 0.8645581174881485 C0010674 Cystic Fibrosis 467 3 0.5892730011162615 C0392164 Pulmonary Cystic Fibrosis 467 3 0.8001508392139184 C1527396 Fibrocystic Disease of Pancreas 467 3 0.7807789872660039 C1644196 Ectopia Lentis with Ectopia of Pupil 458 3 1.0 C2673634 Ectopia Lentis, Isolated, Autosomal Recessive 458 3 1.0 C3541474 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 458 3 1.0 C0016052 Fibromuscular Dysplasia 452 3 0.9238496277384697 C0268351 Cutis Laxa, Autosomal Recessive, Type I 452 3 0.6451934027243647 C2315541 Diverticulum of renal calyx 452 3 0.9238496277384697 C2751316 Glaucoma 3, Primary Congenital, D 447 3 1.0 C3538951 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA 447 3 1.0 C3553785 WEILL-MARCHESANI SYNDROME 3 447 3 1.0 C0339578 Corticosteroid-induced glaucoma 445 3 0.8538617180604857 C1842028 GLAUCOMA 1, OPEN ANGLE, A 445 3 0.5674554783513097 C4068743 Juvenile open angle 445 3 0.9064004855289406 C1856439 GLAUCOMA 3, PRIMARY CONGENITAL, A 444 3 0.2380619977083376 C2981140 Glaucoma of childhood 444 3 0.41241971712338665 C3278153 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET 444 3 0.7011851234458101 C1861735 Dementia, familial Danish 435 3 0.9985719095207836 C1867773 Dementia, familial British 435 3 0.9990471619214217 C4015146 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 435 3 0.998645617247303 C1510489 Cerebral Amyloid Angiopathy, Hereditary 433 3 -0.004870186762593165 C1527338 Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 433 3 0.612738612285398 C2677774 Age-Related Macular Degeneration type 11 433 3 0.7150800102457622 C1704299 Hypobetalipoproteinemia, Familial, Apolipoprotein B 432 3 0.9924597476952364 C1862596 Familial hypobetalipoproteinemia 432 3 0.9837625351393181 C3888316 Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B 432 3 0.9924597476952364 C0162569 Hepatoerythropoietic Porphyria 429 3 0.9461494793810225 C0268323 Familial porphyria cutanea tarda 429 3 0.9461494793810225 C0342861 Uroporphyrinogen decarboxylase deficiency 429 3 0.8874155545355793 C0432225 Metaphyseal chondrodysplasia Spahr type 424 3 1.0 C1865832 Spondyloepimetaphyseal Dysplasia, Missouri Type 424 3 1.0 C2748495 Metaphyseal Anadysplasia 1 424 3 1.0 C0856742 Post MI 423 3 0.6130718739759924 C1959859 Acute lyme disease 423 3 0.7717929577686702 C2751322 Metaphyseal Anadysplasia 2 423 3 0.7717929577686702 C1864851 Pigmented Nodular Adrenocortical Disease, Primary, 2 422 3 0.4005477155037526 C4025760 Primary hypercorticolism 422 3 0.4160512167133256 C4304832 Primary pigmented nodular adrenocortical disease 422 3 0.41926813142409314 C0740302 5q-syndrome 401 3 0.8492011607476743 C1802398 Chromosome 5, trisomy 5q 401 3 0.3858529045736364 C2675059 Refractory macrocytic anemia 401 3 0.7833326365550884 C0391816 Tietz syndrome 396 3 1.0 C1860339 WAARDENBURG SYNDROME, TYPE IIA 396 3 1.0 C4310625 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 396 3 1.0 C0221228 Comedone 388 3 0.2997783391966423 C3280309 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY 388 3 0.8370005939492603 C4310760 LETHAL CONGENITAL CONTRACTURE SYNDROME 10 388 3 0.8370005939492603 C1843181 Noonan syndrome-like disorder with loose anagen hair 386 3 1.0 C3501846 Noonan-Like Syndrome With Loose Anagen Hair 386 3 1.0 C4478716 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 386 3 1.0 C1969342 PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED 383 3 0.9868324341050282 C1969343 Pulmonary Hypertension, Primary, Fenfluramine-Associated 383 3 0.993366345217903 C3714844 Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia 383 3 0.993366345217903 C0456702 Severe childhood autosomal recessive muscular dystrophy 372 3 0.5271687596976515 C2936331 Sarcoglycanopathies 372 3 0.7762510451773604 C2936332 Alpha-Sarcoglycanopathies 372 3 0.7392300316175178 C0085077 Sweet Syndrome 367 3 0.953678479718495 C0472762 Alpha trait thalassemia 367 3 0.818970631667975 C4016158 ALPHA-THALASSEMIA, HMONG TYPE 367 3 0.953678479718495 C0700299 Heinz Body Anemias 365 3 0.8241006547436603 C2873756 Severe beta thalassemia 365 3 0.9386566716242557 C3665425 Hemoglobin M Disease 365 3 0.9317457366317579 C0019045 Hemoglobinopathies 364 3 0.5247726828049897 C0472767 Beta thalassemia intermedia 364 3 0.1724637368799377 C4274391 Dominant beta-thalassemia 364 3 0.6207944424505132 C4290090 diabetes (mellitus) due to autoimmune process 360 3 0.9999999999999989 C4290091 diabetes (mellitus) due to immune mediated pancreatic islet beta-cell destruction 360 3 0.9999999999999989 C4290092 idiopathic diabetes (mellitus) 360 3 0.9999999999999989 C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 355 3 1.0 C4084823 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL 355 3 1.0 C4225405 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 355 3 1.0 C0236642 Pick Disease of the Brain 345 3 0.5419150727408674 C0520716 Pallidopontonigral degeneration 345 3 0.6788239293970225 C1838313 Pick Complex 345 3 0.6843124998593689 C0038368 Stomatognathic Diseases 342 3 0.9999999999999989 C1704330 Dental Diseases 342 3 0.9999999999999989 C2750325 Oculootodental Syndrome 342 3 0.9999999999999989 C0271846 Familial hyperparathyroidism 335 3 0.6671952657434286 C1840402 HYPERPARATHYROIDISM 1 335 3 0.4071805099846771 C1864729 HYPERPARATHYROIDISM 3 335 3 0.6642752246845705 C1853137 BRACHYDACTYLY-SYNDACTYLY SYNDROME 334 3 1.0 C2609259 Symphysis Pubis Dysfunction 334 3 1.0 C4310807 BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME 334 3 1.0 C0342345 Hypoparathyroidism - autosomal dominant 331 3 0.9063577220662862 C1832648 Hypoparathyroidism familial isolated 331 3 0.8584214123250228 C1840334 Hypoparathyroidism, Autosomal Recessive 331 3 0.7384861939472478 C1843244 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 325 3 0.7528190837205182 C1858674 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 325 3 0.8681975646246107 C1969810 FEBRILE CONVULSIONS, FAMILIAL, 8 325 3 0.7297305649589085 C0751122 Infantile Severe Myoclonic Epilepsy 322 3 0.18096337931088682 C0752323 Focal Clonic Seizures 322 3 0.6149643692687011 C4023511 Obtundation status 322 3 0.6649472954377083 C2748541 Brugada Syndrome 5 320 3 1.0 C3809311 ATRIAL FIBRILLATION, FAMILIAL, 13 320 3 1.0 C4479236 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 320 3 1.0 C1853345 Generalized Epilepsy With Febrile Seizures Plus, Type 4 319 3 0.9558758559257231 C1858672 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 319 3 0.9464101330517022 C3151191 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 8 319 3 0.9558758559257231 C0432228 Brachyolmia 313 3 0.22708228605698963 C2748516 Spondylodysplasia And Premature Pubarche 313 3 0.6931382138489248 C2748518 Lumbar scoliosis 313 3 0.5772452536497906 C0342471 3 beta-Hydroxysteroid dehydrogenase deficiency 312 3 0.6700896823125848 C0342541 Precocious pubarche 312 3 0.4262996437255822 C2931782 Adrenal hyperplasia 2 312 3 0.6337934929664646 C1852093 Maturity-Onset Diabetes of the Young, Type 1 311 3 1.0 C4014962 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG 311 3 1.0 C4274078 Hyperinsulinism due to HNF4A deficiency 311 3 1.0 C1709353 Osteofibrous Dysplasia 310 3 0.996624613942208 C1836723 Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 310 3 0.998311106158486 C4084709 DEAFNESS, AUTOSOMAL RECESSIVE 97 310 3 0.998311106158486 C0019372 Herpesviridae Infections 303 3 0.5875335653359417 C0032768 Postherpetic neuralgia 303 3 0.20024155161505422 C0037140 B Virus Infection 303 3 0.5876875690390145 C1858804 Cerebellar Ataxia, Deafness, and Narcolepsy 301 3 0.8967891029535924 C3279885 Hereditary Sensory and Autonomic Neuropathy Type Ie 301 3 0.7563388748600754 C3807295 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT 301 3 0.8967891029535924 C0796122 Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome 300 3 0.027748819518484326 C1850055 PEHO syndrome 300 3 0.6749860521893507 C1850056 PEHO-Like Syndrome 300 3 0.49005040257170007 C1835896 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 299 3 0.6808805813098968 C3280168 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 299 3 0.1466285677888863 C3280283 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 299 3 0.5955823061584353 C1839602 Neuropathy, Hereditary Sensory, X-Linked 297 3 1.0 C1842586 Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux 297 3 1.0 C1850384 Neuropathy, Hereditary Sensory, Atypical 297 3 1.0 C0020072 Hereditary Sensory Autonomic Neuropathy, Type 2 293 3 0.1665593429679447 C0751540 Morvan\'s Disease 293 3 0.7890591451917791 C2752089 Neuropathy, Hereditary Sensory And Autonomic, Type IIA 293 3 0.8164981058006441 C0027889 Hereditary Sensory and Autonomic Neuropathies 292 3 0.8924058180050941 C0086405 Hereditary Sensory Radicular Neuropathy 292 3 0.9393749961507323 C0699739 Sensory Neuropathy, Hereditary 292 3 0.9369114697177707 C0242343 Panhypopituitarism 284 3 0.25290714974271833 C0878683 Pituitary Dwarfism Type 3 284 3 0.7666949360137796 C3875161 Anterior pituitary hormone deficiency 284 3 0.7666949360137796 C0271623 Hypogonadotropic hypogonadism 277 3 0.6029708714814569 C0948896 Primary hypogonadism 277 3 0.5207683226051136 C3489396 Hypogonadism, Isolated Hypogonadotropic 277 3 0.6868417857039673 C0162809 Kallmann Syndrome 275 3 0.2354407794532236 C0342384 Idiopathic hypogonadotropic hypogonadism 275 3 0.17421961945359982 C4025821 Anterior hypopituitarism 275 3 0.35529975515849843 C1563719 Kallmann Syndrome 1 274 3 0.8260913213570108 C1563720 Kallmann Syndrome 2 (disorder) 274 3 0.7166157684464513 C2930927 Kallmann syndrome, type 3, recessive 274 3 0.8706618664931394 C0269209 Hydrometrocolpos 272 3 0.4693343490007862 C0948368 Kaufman-McKusick syndrome 272 3 0.8647560248903573 C1858054 BARDET-BIEDL SYNDROME 6 272 3 0.8647560248903573 C1863370 Saethre-Chotzen Syndrome with Eyelid Anomalies 271 3 1.0 C1863371 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY 271 3 1.0 C1867146 Robinow Sorauf syndrome 271 3 1.0 C0220658 Pfeiffer Syndrome 270 3 0.7745559450328015 C0795998 JACKSON-WEISS SYNDROME 270 3 0.9006289212991047 C2931888 Pfeiffer type acrocephalosyndactyly 270 3 0.8952604070992595 C0010930 Dacryocystitis 267 3 0.7173204998084639 C0265269 Lacrimoauriculodentodigital syndrome 267 3 0.83971474009578 C0948060 Iridocele 267 3 0.8255745980932205 C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy 265 3 0.8865844878766828 C3711645 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 265 3 0.5317326607238838 C3714237 Trifunctional Protein Deficiency, Type 2 265 3 0.8678642241619975 C0149877 Hypoglycemic encephalopathy 264 3 1.0 C1291230 3-Hydroxyacyl-CoA Dehydrogenase Deficiency 264 3 1.0 C1864948 Hyperinsulinemic Hypoglycemia, Familial, 4 264 3 1.0 C0394005 Ataxic cerebral palsy 260 3 0.9367837382438853 C3554449 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 260 3 0.8375518442369936 C4539767 EXUDATIVE VITREORETINOPATHY 7 260 3 0.9367837382438853 C0028326 Noonan Syndrome 256 3 0.4801320632555392 C0041409 Turner Syndrome, Male 256 3 0.5443515173677655 C0175704 LEOPARD Syndrome 256 3 0.01671163906746031 C0587248 Costello syndrome (disorder) 255 3 0.5118059736945881 C1968782 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES 255 3 0.5709575120982178 C2931658 Phacomatosis pigmentokeratotica 255 3 0.32794193988558595 C0362030 Verrucous epidermal nevus 253 3 0.9441217923992417 C3179502 Linear Verrucous Epidermal Nevus 253 3 0.9441217923992417 C3854181 Nevus sebaceous 253 3 0.8958054025810849 C4085252 PAGET DISEASE OF BONE 3 250 3 1.0 C4225326 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 250 3 1.0 C4310693 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET 250 3 1.0 C1963905 Infantile free sialic acid storage disease 249 3 1.0 C2930923 N-Acetylneuraminic acid storage disease 249 3 1.0 C2931872 Free sialic acid storage disease 249 3 1.0 C0238190 Inclusion Body Myositis (disorder) 246 3 0.8502943431222536 C0751713 Inclusion Body Myopathy, Sporadic 246 3 0.8178501771594706 C2931471 Sialuria, French type 246 3 0.7348478907662926 C0005683 Urinary Bladder Calculi (disorder) 245 3 0.967192906216238 C0559470 Allergy to peanuts 245 3 0.938525446752615 C2931037 Pancreatic cancer, adult 245 3 0.9678068958674456 C1840529 HOLOPROSENCEPHALY 3 238 3 1.0 C1968843 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 238 3 1.0 C4274307 Hypoplastic tibia and postaxial polydactyly syndrome 238 3 1.0 C0022783 Vulvar Lichen Sclerosus 232 3 0.7311292287761382 C0023652 Lichen Sclerosus et Atrophicus 232 3 0.56220929744473 C0950124 Disease due to Papilloma virus 232 3 0.43494557468927125 C1832814 Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant 230 3 1.0 C3806402 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 230 3 1.0 C3806403 Continuous spike and waves during slow sleep 230 3 1.0 C0343047 Complement component 5 deficiency 226 3 1.0 C3810402 ECULIZUMAB, POOR RESPONSE TO 226 3 1.0 C4024844 Generalized seborrheic dermatitis 226 3 1.0 C0010246 Coxsackievirus Infections 223 3 0.39862949737194436 C0027059 Myocarditis 223 3 0.31942533247535854 C0869523 Carditis 223 3 0.5032068956524463 C0814154 Alcohol Related Neurodevelopmental Disorder 221 3 0.8486389125937926 C3146244 Alcohol Related Birth Defect 221 3 0.7407461578940929 C3661483 Partial Fetal Alcohol Syndrome 221 3 0.8486389125937926 C0796224 MENTAL RETARDATION, X-LINKED 18 220 3 0.78215150987722 C1845181 MENTAL RETARDATION, X-LINKED 78 220 3 0.8695728429576005 C2749022 Chromosome Xp11.23-P11.22 Duplication Syndrome 220 3 0.8204539090657366 C0432254 Singleton Merten syndrome 209 3 0.7600865583783077 C3888244 AICARDI-GOUTIERES SYNDROME 7 209 3 0.652794315815637 C4225427 SINGLETON-MERTEN SYNDROME 1 209 3 0.8288622551983255 C0456097 Congenital viral disease 207 3 0.9610102910404928 C2749659 AICARDI-GOUTIERES SYNDROME 5 (disorder) 207 3 0.8979760796356823 C3280721 CHILBLAIN LUPUS 2 207 3 0.9610102910404928 C0393591 AICARDI-GOUTIERES SYNDROME 205 3 0.6241787237771206 C0796126 AICARDI-GOUTIERES SYNDROME 1 205 3 0.42574577341916303 C3489724 Aicardi-Goutieres Syndrome 2 205 3 0.6977862299461152 C0752258 Position Sense Disorders 201 3 0.999999999999999 C0752261 Thermal Sensation Disorders 201 3 0.999999999999999 C0752262 Somatosensory Disorders 201 3 0.999999999999999 C1858915 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 195 3 0.548155529014253 C2919166 Autosomal dominant focal segmental glomerulosclerosis 195 3 0.6037754305541225 C4049702 Focal Segmental Glomerulosclerosis, Not Otherwise Specified 195 3 -0.09030889677372743 C0410189 Muscular Dystrophy, Emery-Dreifuss 190 3 0.888657806900844 C0410190 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 190 3 0.9219979767878843 C1450051 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 190 3 0.9330113838902901 C0393665 Multiple Sclerosis, Chronic Progressive 187 3 0.9389039000347364 C3715156 AMYOTROPHIC LATERAL SCLEROSIS 20 187 3 0.9389039000347364 C3809469 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 187 3 0.7697707142525831 C1833662 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 186 3 0.6204925356583043 C3151403 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 186 3 0.8640737966493615 C4225244 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y 186 3 0.8640737966493615 C0040560 Toxoplasmosis, Congenital 175 3 1.0 C2930826 Acute malaria 175 3 1.0 C3825986 Meningitis in children 175 3 1.0 C3151443 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 171 3 1.0 C3151444 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 171 3 1.0 C3553617 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 171 3 1.0 C0002390 Extrinsic allergic alveolitis 168 3 0.5022046805190915 C0034535 Radiation Syndrome 168 3 0.7596362438178388 C0242992 Multiple Chemical Sensitivity 168 3 0.7596362438178388 C0003969 Ascorbic Acid Deficiency 164 3 0.9765319805014785 C3279786 ANHAPTOGLOBINEMIA 164 3 0.9539726447270853 C3279787 HYPOHAPTOGLOBINEMIA (disorder) 164 3 0.9765319805014785 C0022073 Iridocyclitis 149 3 0.6198260193953813 C2931171 Juvenile pauciarticular chronic arthritis 149 3 0.6219893600950559 C3714757 Juvenile rheumatoid arthritis 149 3 0.2129721415189397 C0264969 Aneurysm of celiac artery 146 3 1.0 C0742747 High-output congestive heart failure 146 3 1.0 C4023119 Mesenteric artery aneurysm 146 3 1.0 C0029804 Other specified hemorrhagic conditions 143 3 0.9684189356577974 C0340804 Hereditary vascular fragility 143 3 0.9684189356577974 C1853278 Bleeding Disorder Due To P2RY12 Defect 143 3 0.9372531601291544 C1567742 Alport Syndrome, X-Linked 141 3 -0.3049390079742015 C1839884 Leiomyomatosis, esophageal and vulval, with nephropathy 141 3 0.6352501632791394 C3806737 DEAFNESS, X-LINKED 6 141 3 0.329413822965663 C0241908 Hematuria, Benign Familial 140 3 0.8018572304406775 C0403440 Thin basement membrane disease 140 3 0.9441267341542892 C2931253 Alport syndrome, dominant type 140 3 0.9136226536756507 C0027706 Hereditary nephritis 138 3 0.9009773691641685 C1567741 Alport Syndrome 138 3 0.7988805988455528 C2931861 Hemorrhagic hereditary nephritis 138 3 0.8231785223626339 C0022336 Creutzfeldt-Jakob disease 131 3 0.8940668586927207 C0376329 New Variant Creutzfeldt-Jakob Disease 131 3 0.9620332197720126 C0751254 Creutzfeldt-Jakob Disease, Familial 131 3 0.9593485969692891 C0035579 Rickets 126 3 0.26626137724990145 C0221468 Vitamin D-dependent rickets 126 3 0.5233397422833072 C0268689 Vitamin D-dependent rickets, type 1 126 3 0.47259530911632874 C0023283 Leishmaniasis, Cutaneous 123 3 0.984115708481451 C0086540 Leishmaniasis, New World 123 3 0.9930968578826108 C0086541 Urban cutaneous leishmaniasis 123 3 0.9930968578826108 C0020445 Hypercholesterolemia, Familial 121 3 0.4815862937096298 C0745103 Hyperlipoproteinemia Type IIa 121 3 0.6081601822361881 C1704417 Hyperlipoproteinemia Type IIb 121 3 0.4930349297917249 C0018203 Chronic granulomatous disease 113 3 0.4519720367219861 C0023885 Liver Abscess 113 3 0.8341606178449057 C0024205 Lymphadenitis 113 3 0.8360195077066253 C1837023 CATARACT, CONGENITAL, CERULEAN TYPE, 3 111 3 1.0 C3540850 CATARACT 4, MULTIPLE TYPES 111 3 1.0 C3888390 Cataract, Punctate, Progressive Juvenile-Onset 111 3 1.0 C0002631 Infection of amniotic cavity 110 3 0.9940982941196048 C0014179 Endometritis 110 3 0.9940982941196048 C1275592 Funisitis (disorder) 110 3 0.9882767821066347 C0157917 Pauciarticular juvenile rheumatoid arthritis 106 3 0.31631902783291815 C0221052 Chronic berylliosis 106 3 0.5959839981607429 C3711850 Opticospinal Multiple Sclerosis 106 3 0.7360209891352174 C0014324 Entamoebiasis 100 3 0.6206861661801247 C0151332 Active tuberculosis 100 3 0.2215154056623684 C4316791 Entamoeba histolytica Infection 100 3 0.6206861661801247 C0001828 Agricultural Workers\' Diseases 97 3 1.0 C0019112 Hemorrhoids 97 3 1.0 C0282550 Persian Gulf Syndrome 97 3 1.0 C0268742 Membranoproliferative Glomerulonephritis, Type I 95 3 0.8444053026756673 C0268743 Membranoproliferative Glomerulonephritis, Type II 95 3 0.554673853317079 C1720821 Membranoproliferative Glomerulonephritis, Type III 95 3 0.8444619285475379 C0149642 Cervical lymphadenitis 89 3 0.7173049458911258 C0149896 Primary gout 89 3 0.7173049458911258 C3890737 Autoinflammatory Syndrome 89 3 0.4265838371316969 C0267839 Hepatic amyloidosis 85 3 0.9814759996404766 C1275126 TNF receptor-associated periodic fever syndrome (TRAPS) 85 3 0.949871358422345 C1761613 Conjunctival hyperemia 85 3 0.9814759996404766 C0015974 Periodic fever 84 3 0.3318934246371938 C3889136 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 84 3 0.6241137905432769 C4268691 Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 84 3 0.4331845087088078 C0011633 Dermatomyositis 83 3 0.5718077672974584 C0221056 Adult type dermatomyositis 83 3 0.5984804031079543 C0263666 Dermatomyositis, Childhood Type 83 3 0.47535481949850317 C0035457 Rhinitis, Allergic, Perennial 82 3 0.9947189779434393 C0036830 Serum Sickness 82 3 0.9963898305130072 C0342185 Hyperthyroxinemia, Familial Dysalbuminemic 82 3 0.9944723965304038 C0023348 Leprosy, Lepromatous 77 3 0.6627451881489584 C0868908 Pancolitis 77 3 0.8013174836134267 C2314882 Reproductive tract infection 77 3 0.8013174836134267 C0543687 Thymic alymphoplasia 72 3 0.6055891560499904 C1279481 X-Linked Combined Immunodeficiency Diseases 72 3 0.8133923951653286 C1845604 Recurrent bacterial meningitis 72 3 0.7930087106074266 C0003615 Appendicitis 68 3 0.9963609431550348 C0729531 Viral respiratory infection 68 3 0.9981758517332591 C0854119 Ruptured Appendicitis 68 3 0.9981758517332583 C1863052 ALZHEIMER DISEASE, FAMILIAL, 1 65 3 0.9389035465989464 C1863053 Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy 65 3 0.9798736161185492 C3549448 ALZHEIMER DISEASE, PROTECTION AGAINST 65 3 0.9798736161185492 C0085220 Cerebral Amyloid Angiopathy 63 3 0.5965361805447181 C0338582 Sporadic Cerebral Amyloid Angiopathy 63 3 0.316297840031178 C2931784 Amyloid angiopathy 63 3 0.155651481338334 C0029400 Osteitis 60 3 0.49661527345423834 C0263680 Chronic arthritis 60 3 0.6693095654728507 C2936258 Peri-Implantitis 60 3 0.6270184777239977 C0029877 Ear Inflammation 57 3 0.27129105829368555 C0340170 Complicated pneumoconiosis 57 3 0.20204941957775405 C0699744 Infection of ear 57 3 0.13495340606489006 C0221033 Trisomy X syndrome 53 3 0.9710134568384665 C0265309 Leri-Weill dyschondrosteosis 53 3 0.9415435385848181 C0432230 Langer Mesomelic Dysplasia Syndrome 53 3 0.9710134568384665 C0836924 Thrombocytosis 48 3 0.5811053997945733 C4273671 Inherited predisposition to essential thrombocythemia 48 3 0.5768411149998041 C4303761 Familial thrombocytosis 48 3 0.6496419973713721 C0002351 Altitude Sickness 45 3 1.0 C2673187 Erythrocytosis, Familial, 4 45 3 1.0 C4045968 Altitude Hypoxia 45 3 1.0 C0002063 Alkalosis 40 3 0.5576724577582384 C0597854 renin induced hypertension 40 3 0.5829787159870976 C1397307 Cardiac fibrosis 40 3 0.48008148630983444 C0338575 Sagittal Sinus Thrombosis 34 3 1.0 C0751823 Septic Phlebitis, Sagittal Sinus 34 3 1.0 C0751824 Sagittal Sinus Thrombophlebitis 34 3 1.0 C0030807 Pemphigus 30 3 0.5529733602232959 C0030809 Pemphigus Vulgaris 30 3 0.6900456234861895 C0263313 Pemphigus Foliaceus 30 3 0.4657716333133965 C1332655 C3 DEFICIENCY 29 3 1.0 C1969651 Macular Degeneration, Age-Related, 9 29 3 1.0 C3151071 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 29 3 1.0 C0339143 Thyroid associated opthalmopathies 28 3 0.8144355736424996 C0376323 Congestive Ophthalmopathy 28 3 0.8985996891795079 C1563709 Myopathic Ophthalmopathy 28 3 0.8985996891795079 C0015814 Femur Head Necrosis 5 3 0.6883967409699344 C0410480 Avascular Necrosis of Femur Head 5 3 0.7480952985238296 C4479260 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 5 3 0.5695994785299975 C0000744 Abetalipoproteinemia 0 3 0.621453160275549 C1970051 METABOLIC SYNDROME, PROTECTION AGAINST 0 3 0.6496303960143336 C2930930 Abdominal obesity metabolic syndrome 0 3 0.18983250123983675 C1850985 Fragile Site 16p12 2198 2 1.0 C3149276 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB 2198 2 1.0 C0796218 MENTAL RETARDATION, X-LINKED 12 2196 2 1.0 C0796242 MENTAL RETARDATION, X-LINKED 35 2196 2 1.0 C0600336 Subcorneal pustular dermatosis 2195 2 1.0 C1274167 IgA pemphigus 2195 2 1.0 C2749665 SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 2194 2 1.0 C4310730 TOOTH AGENESIS, SELECTIVE, 8 2194 2 1.0 C0149756 Fasciitis, Plantar 2193 2 1.0 C0158360 Fibromatosis, Plantar 2193 2 1.0 C4014291 OOCYTE MATURATION DEFECT 1 2191 2 0.8716015596375228 C4540205 OOCYTE MATURATION DEFECT 3 2191 2 0.8716012392107805 C3810349 ALZHEIMER DISEASE 19 2190 2 1.0 C4540404 SPINOCEREBELLAR ATAXIA 46 2190 2 1.0 C0406468 Loose Anagen Hair Syndrome 2189 2 1.0 C0549150 Pseudofolliculitis barbae (disorder) 2189 2 1.0 C0338650 Catatonia, Organic 2186 2 1.0 C0750992 Catatonia, Malignant 2186 2 1.0 C0029342 Orthomyxoviridae Infections 2185 2 1.0 C0276357 Swine influenza 2185 2 1.0 C1281440 Familial obesity 2184 2 1.0 C2937224 Constitutional obesity 2184 2 1.0 C0017980 Glycosuria, Renal 2183 2 0.9999979019644125 C3245525 Familial renal glucosuria 2183 2 0.9999979019244837 C4304540 1q44 microdeletion syndrome 2182 2 1.0 C4479319 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 2182 2 1.0 C0036093 Salivary Gland Diseases 2181 2 1.0 C2752074 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 2181 2 1.0 C1836603 Foveal Hypoplasia and Anterior Segment Dysgenesis 2180 2 1.0 C3807873 FOVEAL HYPOPLASIA 2 2180 2 1.0 C1835845 Mitochondrial Phosphate Carrier Deficiency 2179 2 1.0 C4024201 Low-output congestive heart failure 2179 2 1.0 C1837822 Burn-Mckeown syndrome 2178 2 0.4299153928408651 C4225317 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 2178 2 0.4299195452999688 C1838867 PARKINSON DISEASE, MITOCHONDRIAL (disorder) 2177 2 0.9470308055483151 C1838876 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE 2177 2 0.9469383785689961 C0553757 Olfaction Disorders 2176 2 1.0 C3888024 Cacosmia 2176 2 1.0 C4024944 Profound static encephalopathy 2175 2 1.0 C4225203 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 2175 2 1.0 C4310663 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 2174 2 1.0 C4310664 SUDDEN CARDIAC FAILURE, INFANTILE 2174 2 1.0 C2677587 Cataract, Juvenile, With Microcornea And Glucosuria 2173 2 1.0 C4310806 CATARACT 47 2173 2 1.0 C1855055 Microcephaly with spastic quadriplegia 2172 2 1.0 C4538630 MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS 2172 2 1.0 C1970414 Osteogenesis Imperfecta, Type V 2171 2 0.9597158449731907 C2931093 Osteogenesis imperfecta, type 5 2171 2 0.9596399497084112 C3810160 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE 2169 2 1.0 C3810161 SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT 2169 2 1.0 C1562113 Fleck corneal dystrophy 2168 2 0.9947265327121563 C4021857 Speckled corneal dystrophy 2168 2 0.9949909177015215 C0796133 Ramon Syndrome 2167 2 1.0 C1847197 Vascular Malformation, Primary Intraosseous 2167 2 1.0 C2931893 Lysosomal beta-mannosidase deficiency 2166 2 1.0 C4048196 beta-Mannosidosis 2166 2 1.0 C1832950 Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 2165 2 1.0 C4225666 CHROMOSOME 15q14 DELETION SYNDROME 2165 2 1.0 C4310678 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 2163 2 1.0 C4310682 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 2163 2 1.0 C3150154 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 2162 2 1.0 C3150701 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB 2162 2 1.0 C4022537 Triangular tongue 2161 2 1.0 C4225192 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W 2161 2 1.0 C1856972 Encephaloclastic Proliferative Vasculopathy 2159 2 1.0 C3203738 Fowler syndrome 2159 2 1.0 C0796184 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 2158 2 1.0 C4085582 MENTAL RETARDATION, X-LINKED 102 2158 2 1.0 C1858717 Facial paresis, hereditary, congenital 2157 2 1.0 C3553625 FACIAL PARESIS, HEREDITARY CONGENITAL, 3 2157 2 1.0 C0268635 Acyl-CoA dehydrogenase deficiency 2156 2 1.0 C0342783 Deficiency of butyryl-CoA dehydrogenase 2156 2 1.0 C0751871 Autoimmune Diseases of the Nervous System 2155 2 0.9999999999999996 C0751872 Immune Disorders, Nervous System 2155 2 0.9999999999999996 C0002534 Renal Aminoacidurias 2154 2 1.0 C3151476 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 2154 2 1.0 C3280730 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 2153 2 1.0 C3280734 FEBRILE SEIZURES, FAMILIAL, 11 2153 2 1.0 C1970211 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 2151 2 1.0 C3809309 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C 2151 2 1.0 C1854150 Charcot-Marie-Tooth disease, Type 2B2 2150 2 1.0 C4225323 BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME 2150 2 1.0 C1832978 Deafness, Autosomal Recessive 7 2149 2 1.0 C1847626 Deafness, Autosomal Dominant 36 2149 2 1.0 C1832187 Deafness, Autosomal Dominant 12 2148 2 1.0 C1863655 Deafness, Autosomal Recessive 21 2148 2 1.0 C0220721 CATARACT 46, JUVENILE-ONSET 2147 2 1.0 C2931791 Cataract Hutterite type 2147 2 1.0 C0740895 Hypochloremic metabolic alkalosis 2145 2 1.0 C3151209 HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME 2145 2 1.0 C0473586 Michelin tire baby syndrome 2144 2 0.8814101411188265 C4014283 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 2144 2 0.8804662006873856 C0001127 Acidosis, Respiratory 2143 2 1.0 C3553636 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 2143 2 1.0 C0796019 SPASTIC PARAPLEGIA 23 (disorder) 2142 2 0.8416813321379341 C1835826 Renal Hypodysplasia, Nonsyndromic, 1 2142 2 0.843470952776807 C0085423 Gram-Negative Bacterial Infections 2141 2 0.9843319613353985 C0085426 Gram-Positive Bacterial Infections 2141 2 0.9849174799210693 C3501611 Mental Retardation, X-Linked Nonsyndromic 2140 2 1.0 C4283894 MENTAL RETARDATION, X-LINKED 61 2140 2 1.0 C1845543 Mental Retardation, X-Linked, with Epilepsy 2137 2 1.0 C3806722 PARKINSONISM WITH SPASTICITY, X-LINKED 2137 2 1.0 C4539783 SPERMATOGENIC FAILURE 18 2136 2 1.0 C4539798 CILIARY DYSKINESIA, PRIMARY, 37 2136 2 1.0 C2751084 Cardiomyopathy, Dilated, 1CC 2134 2 1.0 C3151267 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 2134 2 1.0 C2678475 Cardiomyopathy, Dilated, 1z 2133 2 1.0 C2750472 Cardiomyopathy, Familial Hypertrophic, 13 2133 2 1.0 C1839615 X-linked myopathy with excessive autophagy 2131 2 0.9903106637522027 C2931230 Vacuolar myopathy 2131 2 0.9895726857970458 C4225239 DESANTO-SHINAWI SYNDROME 2130 2 1.0 C4225431 CHROMOSOME 10p12-p11 DELETION SYNDROME 2130 2 1.0 C0268624 Sulfite oxidase deficiency 2129 2 0.9893093759089648 C2931746 Sulfocysteinuria 2129 2 0.990109539605322 C1848097 Spondyloepimetaphyseal Dysplasia, X-Linked 2128 2 1.0 C4310811 MEESTER-LOEYS SYNDROME 2128 2 1.0 C0024054 Lown-Ganong-Levine Syndrome 2126 2 1.0 C0398581 T-cell lymphocytosis 2126 2 1.0 C1832476 Deafness, Autosomal Dominant 10 2125 2 0.9865644592325299 C1854368 Cardiomyopathy, Dilated, 1J 2125 2 0.9865552441094666 C0263912 Rotator cuff syndrome 2124 2 0.6795023821736237 C3492944 Lentiginosis Profusa 2124 2 0.6933365101845443 C3150897 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 2123 2 1.0 C3151351 DEAFNESS, AUTOSOMAL RECESSIVE 89 2123 2 1.0 C0032460 Polycystic Ovary Syndrome 2122 2 0.9395158416614797 C1136382 Sclerocystic Ovaries 2122 2 0.9421739225207191 C3808589 IMMUNODEFICIENCY 32A 2121 2 1.0 C4016741 IMMUNODEFICIENCY 32B 2121 2 1.0 C1837640 Deafness, Autosomal Dominant 28 2120 2 1.0 C4014987 ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 2120 2 1.0 C0432194 Schneckenbecken dysplasia 2119 2 0.3262710691706144 C0432219 Opsismodysplasia 2119 2 0.3232999312206658 C0410214 Myopathy with Abnormal Lipid Metabolism 2118 2 0.9946884290477531 C4310822 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY 2118 2 0.9948979750248561 C0684324 Deficiency of phosphoglycerate kinase 2116 2 0.9996383171337129 C1970848 Phosphoglycerate Kinase 1 Deficiency 2116 2 0.9996382604847976 C3150912 CONE-ROD DYSTROPHY 15 2114 2 1.0 C3552852 RETINITIS PIGMENTOSA 65 2114 2 1.0 C4310791 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 2112 2 1.0 C4310792 DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET 2112 2 1.0 C1839130 Dystonia 3, Torsion, X-Linked 2111 2 0.999356305002102 C4225418 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 2111 2 0.9993562479327174 C3810295 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE 2110 2 1.0 C4014354 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 2110 2 1.0 C3502075 Multiple Mitochondrial Dysfunctions Syndrome 2109 2 0.3408546920892302 C4225348 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 2109 2 0.6646486142146268 C3809165 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 2108 2 1.0 C4225322 SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE 2108 2 1.0 C1864695 Giant Axonal Neuropathy, Autosomal Dominant 2107 2 1.0 C4013360 GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT 2107 2 1.0 C1846648 MICROCEPHALY, AMISH TYPE (disorder) 2106 2 1.0 C3150973 THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) 2106 2 1.0 C0398593 Specific granule deficiency 2105 2 0.9882304956667116 C4479548 SPECIFIC GRANULE DEFICIENCY 2 2105 2 0.9882813290181003 C1832215 Athabaskan brainstem dysgenesis 2102 2 1.0 C1832216 Bosley-Salih-Alorainy Syndrome 2102 2 1.0 C4310699 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 2101 2 0.9962469446876268 C4310700 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 2101 2 0.9962356915624274 C4022698 Acephalic spermatozoa 2100 2 1.0 C4310674 SPERMATOGENIC FAILURE 16 2100 2 1.0 C1855466 Hypomagnesemia 5, Renal, with Ocular Involvement 2099 2 1.0 C2931121 Meier Blumberg Imahorn syndrome 2099 2 1.0 C0010093 Corpus Luteum Cyst 2098 2 0.9836629229790156 C0029927 Ovarian Cysts 2098 2 0.9837079130887605 C1867332 Reticular Dystrophy Of Retinal Pigment Epithelium 2097 2 1.0 C4310680 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 2097 2 1.0 C0220730 Fryns syndrome 2092 2 1.0 C3279775 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 2092 2 1.0 C4015172 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY 2088 2 1.0 C4310776 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 2088 2 1.0 C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency 2087 2 0.9932553513975863 C2678415 Hyperphenylalaninemia, BH4-Deficient, Due To Partial PTS Deficiency 2087 2 0.9936009327432678 C1837830 Ulnar-Fibular Ray Defect and Brachydactyly 2086 2 1.0 C3150833 OCCULT MACULAR DYSTROPHY 2086 2 1.0 C1328339 Dennie-Morgan fold 2084 2 1.0 C2751321 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 2084 2 1.0 C1838603 Retinitis Pigmentosa 14 2082 2 1.0 C3151206 LEBER CONGENITAL AMAUROSIS 15 2082 2 1.0 C1855079 Microcephaly-Micromelia Syndrome 2080 2 1.0 C4539873 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 2080 2 1.0 C1321780 Hypomagnesmic tetany 2079 2 0.9996802237891713 C1865974 Hypomagnesemia 1, Intestinal 2079 2 0.9996802261627306 C1864827 HOLOPROSENCEPHALY 5 2077 2 1.0 C3711749 Nonsyndromic Holoprosencephaly 2077 2 1.0 C0521839 Influenza-like illness 2076 2 1.0 C3809543 CILIARY DYSKINESIA, PRIMARY, 22 2076 2 1.0 C1847352 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL 2075 2 1.0 C3810405 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE 2075 2 1.0 C1861821 CATARACT, MARNER TYPE 2074 2 0.9822017501741636 C3888417 CATARACT 5, MULTIPLE TYPES 2074 2 0.9829326225666419 C1865695 Spondylometaphyseal dysplasia, axial 2073 2 1.0 C4479651 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA 2073 2 1.0 C0796074 MOHR-TRANEBJAERG SYNDROME 2072 2 0.9883631571562841 C1839564 Jensen syndrome 2072 2 0.9883421480593605 C4084821 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 2070 2 1.0 C4225400 INTERSTITIAL LUNG AND LIVER DISEASE 2070 2 1.0 C0796254 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 2067 2 1.0 C4305134 Fried syndrome 2067 2 1.0 C1858517 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 2065 2 1.0 C4015349 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S 2065 2 1.0 C1853723 MYOPATHY, DISTAL 2 2064 2 1.0 C3807521 AMYOTROPHIC LATERAL SCLEROSIS 21 2064 2 1.0 C1838258 Osteopetrosis and infantile neuroaxonal dystrophy 2062 2 1.0 C1968603 Osteopetrosis, Autosomal Recessive 5 2062 2 1.0 C0700323 Observation of Neuromuscular Block 2060 2 0.6894349436942794 C1832918 Brody myopathy 2060 2 0.6973798494469501 C0028734 Nocturia 2058 2 1.0 C0342687 dopamine beta hydroxylase deficiency 2058 2 1.0 C1866294 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 2056 2 0.30910654440863017 C3809845 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 2056 2 0.3516426861351214 C0796021 Lowry Wood syndrome 2055 2 0.9720637539889441 C1846059 Roifman syndrome 2055 2 0.9721352099308407 C2678051 MENTAL RETARDATION, X-LINKED 94 (disorder) 2054 2 0.7491647573060469 C2930868 Rasmussen subacute encephalitis 2054 2 0.7504816360335764 C3553816 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 2053 2 1.0 C4521563 SPINOCEREBELLAR ATAXIA 44 2053 2 1.0 C2750090 Charcot-Marie-Tooth Disease, Axonal, Type 2n 2050 2 1.0 C4225361 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 2050 2 1.0 C2675528 Spastic Paraplegia 42, Autosomal Dominant 2049 2 1.0 C3280965 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION 2049 2 1.0 C3280036 MECKEL SYNDROME, TYPE 10 2048 2 1.0 C4539386 JOUBERT SYNDROME 34 2048 2 1.0 C2751686 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 2046 2 1.0 C3552634 LYMPHOPROLIFERATIVE SYNDROME 1 2046 2 1.0 C0175696 Congenital cleft larynx and Opitz-Frias syndrome 2045 2 0.999716883875141 C2936904 Opitz GBBB Syndrome, X-Linked 2045 2 0.9997168324811812 C0263532 Leukonychia punctata 2043 2 1.0 C3276977 LEUKONYCHIA STRIATUS 2043 2 1.0 C0345382 Gorlin Chaudhry Moss syndrome 2041 2 1.0 C2931653 Petty Laxova Wiedemann syndrome 2041 2 1.0 C1833154 Long Qt Syndrome 4 2040 2 1.0 C1970119 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED 2040 2 1.0 C4015261 POLYENDOCRINE-POLYNEUROPATHY SYNDROME 2038 2 1.0 C4539881 DEAFNESS, AUTOSOMAL DOMINANT 71 2038 2 1.0 C3836857 MECKEL SYNDROME, TYPE 8 2037 2 1.0 C4084841 JOUBERT SYNDROME 24 2037 2 1.0 C1858133 Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 2034 2 1.0 C1858142 ICHTHYOSIS, LAMELLAR, 3 2034 2 1.0 C0019693 HIV Infections 2033 2 0.9449935927616423 C4505456 HIV Coinfection 2033 2 0.947367065095419 C1838239 Band Heterotopia of Brain 2032 2 1.0 C4284594 BAND HETEROTOPIA 2032 2 1.0 C0431375 Classical Lissencephaly 2030 2 0.7887696427600918 C1848201 Subcortical Band Heterotopia 2030 2 0.7605430654819741 C0265219 Miller Dieker syndrome 2029 2 0.20526447708274642 C2750748 Chromosome 17p13.3 Duplication Syndrome 2029 2 0.4345034462955695 C1291316 Deficiency of reductase 2021 2 1.0 C1856127 Bile acid synthesis defect, congenital, 2 2021 2 1.0 C2675730 Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 2018 2 1.0 C4225321 ZIMMERMANN-LABAND SYNDROME 2 2018 2 1.0 C0796013 Zimmerman Laband syndrome 2017 2 0.39926088138061294 C2678486 Temple-Baraitser Syndrome 2017 2 0.7554025097520193 C0342792 Succinyl-CoA:3-oxoacid CoA transferase deficiency 2016 2 1.0 C1291422 Deficiency of 3-oxoacid CoA-transferase 2016 2 1.0 C1858160 CRANIOSYNOSTOSIS, TYPE 2 2015 2 0.9978615558475474 C1868597 Parietal Foramina With Cleidocranial Dysplasia 2015 2 0.9978613129092196 C1839580 Nystagmus 1, congenital, X- linked 2012 2 1.0 C3151880 NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED (disorder) 2012 2 1.0 C1858535 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder) 2011 2 1.0 C3501830 Microcephaly, Primary Autosomal Recessive, 2 2011 2 1.0 C0270857 Epilepsy, Reflex 2009 2 0.9990926425026795 C0342708 Gamma aminobutyric acid transaminase deficiency 2009 2 0.9990927259983728 C1859301 Cerebellar hypoplasia with endosteal sclerosis 2008 2 1.0 C3280644 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 2008 2 1.0 C2676243 Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 2007 2 0.5082118487962047 C3502054 Leukodystrophy, Dysmyelinating, with Oligodontia 2007 2 0.757689621871652 C0451669 Neuropathy in association with hereditary ataxia 2005 2 1.0 C1846574 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2005 2 1.0 C0342686 Aromatic amino acid decarboxylase deficiency 2004 2 1.0 C1291564 Deficiency of aromatic-L-amino-acid decarboxylase 2004 2 1.0 C0268263 Multiple Sulfatase Deficiency Disease 2001 2 0.9982231939827975 C1720864 Sulfatidosis, Juvenile, Austin Type 2001 2 0.9982229610230439 C0242855 Congenital atresia of pulmonary valve 2000 2 1.0 C1848392 Zunich neuroectodermal syndrome 2000 2 1.0 C0008029 Cherubism 1999 2 0.9995212723671753 C0549122 Relative afferent pupillary defect 1999 2 0.9995212584625025 C3541319 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 1998 2 1.0 C3809651 INFANTILE LIVER FAILURE SYNDROME 2 1998 2 1.0 C0030804 Pemphigoid, Benign Mucous Membrane 1997 2 0.9814673348542093 C1282359 Ocular Cicatricial Pemphigoid 1997 2 0.9814338571820406 C0339273 Corneal dystrophy, Lattice type 3 1996 2 0.998272810175728 C1641852 Gelatinous droplike corneal dystrophy 1996 2 0.9983711423594059 C1862871 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS 1994 2 0.8825437542729301 C2745963 Kashin-Beck Disease 1994 2 0.847930898647363 C3281066 USHER SYNDROME, TYPE IIIB 1993 2 1.0 C4225265 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W 1993 2 1.0 C0085635 Photopsia 1992 2 1.0 C4479481 RETINITIS PIGMENTOSA 78 1992 2 1.0 C1853162 Osteogenesis Imperfecta Type VII 1991 2 1.0 C2931095 Osteogenesis imperfecta, type 7 1991 2 1.0 C4310779 SPERMATOGENIC FAILURE 15 1990 2 1.0 C4310782 PREMATURE OVARIAN FAILURE 12 1990 2 1.0 C1963674 Spinocerebellar Ataxia 10 1989 2 1.0 C4275023 Spinocerebellar ataxia type 10 1989 2 1.0 C1858712 Spastic paraplegia 10, autosomal dominant 1985 2 0.9927764183303074 C4310658 MYOCLONUS, INTRACTABLE, NEONATAL 1985 2 0.9930484671440507 C0029408 Degenerative polyarthritis 1984 2 0.9148291528771603 C0086743 Osteoarthrosis Deformans 1984 2 0.9189154714954368 C0037274 Dermatologic disorders 1983 2 0.6442261808338544 C0751851 Arsenic Encephalopathy 1983 2 0.6537314301401983 C0029574 Other dermatoses 1982 2 0.8440259417961603 C0037277 Skin Diseases, Genetic 1982 2 0.7983028268075582 C3281192 INFANTILE CEREBELLAR-RETINAL DEGENERATION 1981 2 1.0 C4225384 OPTIC ATROPHY 9 1981 2 1.0 C2676772 Microtia, Hearing Impairment, And Cleft Palate 1979 2 1.0 C3808166 MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT 1979 2 1.0 C0272173 Myelokathexis 1978 2 0.9869468725933866 C0472817 WHIM syndrome 1978 2 0.9868611849893995 C1859564 Bardet-Biedl syndrome 3 1977 2 1.0 C3150808 RETINITIS PIGMENTOSA 55 1977 2 1.0 C4310675 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 1975 2 1.0 C4316985 Cerebellar edema 1975 2 1.0 C4225177 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 1973 2 1.0 C4310736 MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE 1973 2 1.0 C1857013 Gingival hyperkeratosis 1972 2 0.998982269880452 C2700425 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 1972 2 0.9989823434844238 C0809936 Branchio-skeleto-genital syndrome 1971 2 1.0 C0877521 Chronic synovitis 1971 2 1.0 C0034341 Pyruvate Carboxylase Deficiency Disease 1970 2 0.993600540131232 C2931141 Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency 1970 2 0.993735939153861 C2931004 Congenital disorder of glycosylation type 1J 1969 2 0.9517015578881153 C3553645 MYASTHENIC SYNDROME, CONGENITAL, 13 1969 2 0.9552197774138775 C1864669 NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 1968 2 1.0 C1864670 Neuronal Ceroid Lipofuscinosis, Congenital 1968 2 1.0 C3150899 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 1967 2 1.0 C3809665 SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 1967 2 1.0 C2931461 Forney Robinson Pascoe syndrome 1966 2 1.0 C4310697 FRONTOMETAPHYSEAL DYSPLASIA 2 1966 2 1.0 C1832827 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 1964 2 1.0 C1854414 Deafness, Autosomal Recessive 10 1964 2 1.0 C1832525 Limb-girdle muscular dystrophy type 2F 1963 2 1.0 C1847667 CARDIOMYOPATHY, DILATED, 1L 1963 2 1.0 C0004681 Bagassosis 1961 2 0.9994256019606058 C0032273 Pneumoconiosis 1961 2 0.9994266806185965 C3892050 DEAFNESS, AUTOSOMAL RECESSIVE 102 1960 2 0.9805792872846669 C4022756 Profound hearing impairment 1960 2 0.9758431221748454 C1849762 Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia 1959 2 0.95955161961288 C2931006 Congenital disorder of glycosylation type 1L 1959 2 0.9501930409186824 C0149696 Food intolerance (disorder) 1958 2 0.9600138021889058 C1832736 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 1958 2 0.9492994318073418 C0023890 Liver Cirrhosis 1957 2 0.8876806404745305 C0239946 Fibrosis, Liver 1957 2 0.8920036166681832 C3553230 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl 1956 2 0.952300868513004 C3809160 SHAHEEN SYNDROME 1956 2 0.9517879856932137 C0034951 Refractive Errors 1954 2 0.6804215250225317 C1527310 Ametropia 1954 2 0.5606393009725587 C0151638 Fanconi like syndrome 1953 2 0.5124581254664818 C3469542 FANCONI ANEMIA, COMPLEMENTATION GROUP P 1953 2 0.45072110575490854 C0265333 Tricho-dento-osseous syndrome (disorder) 1952 2 0.9991431418579274 C1863012 Amelogenesis Imperfecta, Type IV 1952 2 0.999143106242231 C1824925 DEAFNESS, AUTOSOMAL RECESSIVE 70 1951 2 0.960444629476515 C3554129 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 1951 2 0.9597183910999514 C1842836 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 1950 2 0.924289746628093 C4015597 MYASTHENIC SYNDROME, CONGENITAL, 14 1950 2 0.9351499839718267 C3550904 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 1949 2 0.9992390690722684 C4317295 Congenital disorder of glycosylation type 1s 1949 2 0.9992388540617094 C0027612 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 1947 2 0.9986497212960793 C0349653 Congenital disorder of glycosylation type 1A 1947 2 0.9986503979338139 C0265342 Cerebrocostomandibular Syndrome 1946 2 1.0 C3501912 Cerebrocostomandibular-Like Syndrome 1946 2 1.0 C0006111 Brain Diseases 1945 2 0.8224639816105657 C0085584 Encephalopathies 1945 2 0.8326211128565733 C1838570 CEROID LIPOFUSCINOSIS, NEURONAL, 8 1940 2 1.0 C1864923 Northern epilepsy syndrome 1940 2 1.0 C0016756 Fructose-1,6-Diphosphatase Deficiency 1939 2 1.0 C0019489 Deficiency, Hexosediphosphatase 1939 2 1.0 C1866257 Peroxisome Biogenesis Disorder, Complementation Group K 1938 2 1.0 C3554004 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) 1938 2 1.0 C4083048 SPONDYLOCOSTAL DYSOSTOSIS 5 1934 2 0.8079663270928997 C4274761 Autosomal dominant spondylocostal dysostosis 1934 2 0.8335519858943492 C1852521 Spondylocostal Dysostosis 4, Autosomal Dominant 1932 2 0.380214281887591 C3150942 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE 1932 2 0.3203474161409904 C1838571 Ceroid Lipofuscinosis, Neuronal, 7 1930 2 1.0 C4015371 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 1930 2 1.0 C1956147 Microlissencephaly 1929 2 0.9547555487922657 C3853041 Severe Congenital Microcephaly 1929 2 0.9541942592022438 C0086981 Sicca Syndrome 1926 2 0.9467575625229624 C1527336 Sjogren\'s Syndrome 1926 2 0.9432344060561468 C0268623 Tyrosinemia, Type III 1924 2 0.6640426899915856 C2931042 Hawkinsinuria 1924 2 0.8473911593225412 C0268487 Tyrosine Transaminase Deficiency Disease 1923 2 0.41790324966848885 C4020911 Herpetiform corneal ulceration 1923 2 0.7744797493416075 C3150705 FOXG1 syndrome 1921 2 1.0 C4305240 14q12 microdeletion syndrome 1921 2 1.0 C2750787 Weill-Marchesani-Like Syndrome 1920 2 0.4213937643958546 C3554349 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 1920 2 0.4019411527173876 C0018081 Gonorrhea 1919 2 0.5986441114573859 C1855346 MAST SYNDROME 1919 2 0.6836767688013844 C1969644 Cataract, Cortical, Juvenile-Onset 1918 2 1.0 C3808107 CATARACT 33, MULTIPLE TYPES 1918 2 1.0 C0016037 Fibrodysplasia Ossificans Progressiva 1917 2 0.937027148580973 C0027122 Myositis Ossificans 1917 2 0.9541993806119232 C1833503 Deafness, Autosomal Dominant 4 1916 2 0.9463481327753556 C3280556 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 1916 2 0.9486011868150879 C3554168 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 1915 2 0.9594478719131199 C4310750 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 1915 2 0.9595564828919343 C1859486 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 1914 2 0.9997984481822272 C4024779 Marginal corneal dystrophy 1914 2 0.9997988212639636 C2936863 Bardet-Biedl syndrome 2 (disorder) 1912 2 1.0 C4225281 RETINITIS PIGMENTOSA 74 1912 2 1.0 C1876182 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 1911 2 1.0 C3151107 RETINITIS PIGMENTOSA 40 (disorder) 1911 2 1.0 C1859566 BARDET-BIEDL SYNDROME 8 1910 2 1.0 C3150715 RETINITIS PIGMENTOSA 51 1910 2 1.0 C1855305 Ter Haar syndrome 1908 2 1.0 C1859406 Borrone Di Rocco Crovato syndrome 1908 2 1.0 C0265267 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 1904 2 1.0 C3151781 CK SYNDROME 1904 2 1.0 C0432222 Spondyloenchondrodysplasia 1903 2 0.9835121734415202 C1842763 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 1903 2 0.983559550712676 C1969645 Ataxia, Spastic, 3, Autosomal Recessive 1899 2 1.0 C4225329 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 1899 2 1.0 C1864870 Night Blindness, Congenital Stationary, Autosomal Dominant 3 1896 2 1.0 C4225345 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G 1896 2 1.0 C0221237 Angular cheilitis 1894 2 1.0 C4225381 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 1894 2 1.0 C1272352 Deficiency of vitamin D3 1891 2 0.4400455048729931 C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 1891 2 0.3612019733411966 C0342727 3-@METHYLGLUTACONIC ACIDURIA, TYPE I 1889 2 1.0 C0342728 3-Methylglutaconic aciduria type 1 1889 2 1.0 C1858916 DEAFNESS, AUTOSOMAL DOMINANT 16 1888 2 1.0 C1863561 Deafness, Autosomal Recessive 16 1888 2 1.0 C1970187 Deafness, Sensorineural, And Male Infertility 1887 2 0.06999169869995521 C2751811 Spermatogenic Failure 7 1887 2 0.4389480052211166 C4225337 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 1886 2 1.0 C4225343 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 1886 2 1.0 C1832162 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 1885 2 1.0 C1857041 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 1885 2 1.0 C0085399 Ehrlichiosis 1883 2 1.0 C1842816 RETINITIS PIGMENTOSA 30 1883 2 1.0 C1319860 Sendai virus infection 1882 2 0.5513291578680211 C1558931 Flu-Like Syndrome Adverse Event 1882 2 0.6429747773225882 C1842691 Diaphanospondylodysostosis 1878 2 1.0 C4274732 Ischio-vertebral syndrome 1878 2 1.0 C0399440 Hereditary gingival fibromatosis 1877 2 0.6875910300177901 C1853120 Noonan Syndrome 4 1877 2 0.6752545503675346 C0022660 Kidney Failure, Acute 1876 2 0.8447087633844594 C1565662 Acute Kidney Insufficiency 1876 2 0.8547829598240153 C0004238 Atrial Fibrillation 1874 2 0.8683421494761692 C0235480 Paroxysmal atrial fibrillation 1874 2 0.8719702774889155 C3280452 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 1873 2 1.0 C4015519 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 1873 2 1.0 C0398564 Deficiency of adenylate kinase 1870 2 1.0 C2675459 Adenylate Kinase Deficiency, Hemolytic Anemia Due To 1870 2 1.0 C1859252 Cerebrofaciothoracic Dysplasia 1865 2 1.0 C1861101 THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT 1865 2 1.0 C0020097 HTLV-I Infections 1864 2 0.5241517128506971 C1260874 Infective dermatitis 1864 2 0.6616355314469539 C1832828 Deafness, Autosomal Recessive 9 1863 2 1.0 C1832830 Auditory Neuropathy, Nonsyndromic Recessive 1863 2 1.0 C1852271 Auditory neuropathy 1862 2 0.9014096531976238 C2732267 Auditory neuropathy spectrum disorder 1862 2 0.902617382239077 C1704436 Peripheral Arterial Diseases 1860 2 0.38424296801974117 C4304539 20p12.3 microdeletion syndrome 1860 2 0.3390729342062795 C0035078 Kidney Failure 1855 2 0.8635299904810517 C1565489 Renal Insufficiency 1855 2 0.8665761554175141 C0027707 Nephritis, Interstitial 1852 2 0.8398477384762846 C0041349 Nephritis, Tubulointerstitial 1852 2 0.8383100921802663 C3809824 PARKINSON DISEASE 20, EARLY-ONSET 1849 2 1.0 C4479313 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 1849 2 1.0 C0751505 Insufficient Sleep Syndrome 1844 2 1.0 C0751506 REM Sleep Deprivation 1844 2 1.0 C3151056 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 1843 2 0.8432220061304524 C3489627 Stuttering, Familial Persistent 1 1843 2 0.7064761515876242 C2750246 Pitt-Hopkins-Like Syndrome 1 1842 2 1.0 C2910100 Arnold-Chiari syndrome, type IV 1842 2 1.0 C0013386 Dyskinesia, Drug-Induced 1840 2 0.9999999999999993 C0751088 Dyskinesia, Medication-Induced 1840 2 0.9999999999999993 C0268464 Transient hyperphenylalaninemia 1839 2 0.3363570533779135 C1849700 Hyperphenylalaninemia with primapterinuria 1839 2 0.6363952014527402 C3151355 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A 1836 2 1.0 C3151356 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION 1836 2 1.0 C1857977 MICROHYDRANENCEPHALY 1835 2 1.0 C3151461 LISSENCEPHALY 4 1835 2 1.0 C1857342 Deafness, Cochlear, with Myopia and Intellectual Impairment 1834 2 1.0 C3806275 DEAFNESS AND MYOPIA 1834 2 1.0 C0007787 Transient Ischemic Attack 1832 2 0.8937841047069934 C0155728 Other specified transient cerebral ischemias 1832 2 0.9204860580043087 C0220992 Histidinemia 1830 2 0.9486832980505138 C0268642 Histidinuria renal tubular defect 1830 2 0.9250394364022063 C2675186 LEBER CONGENITAL AMAUROSIS 13 1828 2 0.9844482350661028 C3150208 RETINITIS PIGMENTOSA 53 1828 2 0.9844174981586188 C0162635 Angelman Syndrome 1827 2 0.7197637296674889 C2675336 Duplication 15q11-q13 Syndrome 1827 2 0.7709402539260616 C0155567 Rheumatic aortic stenosis 1824 2 0.5919890323990766 C2752027 Glycogen Storage Disease XIII 1824 2 0.683645588723614 C0011881 Diabetic Nephropathy 1823 2 0.945906043363299 C0017667 Nodular glomerulosclerosis 1823 2 0.9508625822409741 C0400966 Non-alcoholic Fatty Liver Disease 1822 2 0.9651929936931013 C3241937 Nonalcoholic Steatohepatitis 1822 2 0.966623355139347 C0043207 Wolfram Syndrome 1818 2 0.7513327973335716 C0348932 Other specified diabetes mellitus with unspecified complications 1818 2 0.8854110834335897 C3532239 Mitochondrial cardiomyopathy 1816 2 1.0 C4310690 MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) 1816 2 1.0 C0016053 Fibromyalgia 1814 2 0.5161249018598988 C0039494 Temporomandibular Joint Disorders 1814 2 0.5291095572918165 C1858338 Neuropathy, hereditary motor and sensory, Okinawa type 1813 2 1.0 C3714897 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE 1813 2 1.0 C3539920 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 1812 2 0.9971926212392787 C3541517 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 1812 2 0.9973417841950787 C3887494 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 1811 2 0.9994934499475654 C3888065 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 1811 2 0.9995101915154762 C0162359 Christ-Siemens-Touraine syndrome 1810 2 0.5853995365624985 C1970757 Tooth Agenesis, Selective, X-Linked, 1 1810 2 0.7769862003842246 C3554687 IL21R IMMUNODEFICIENCY 1808 2 1.0 C3808820 Chronic hepatitis due to cryptospridium infection 1808 2 1.0 C3809356 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 1807 2 1.0 C3809369 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 1807 2 1.0 C3275508 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 1805 2 1.0 C3806670 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 1805 2 1.0 C0018824 Heart valve disease 1800 2 0.468320665397619 C0263628 Tumoral calcinosis 1800 2 0.48046789900471765 C0599973 Waardenburg Anophthalmia Syndrome 1799 2 0.9351312529556339 C1406717 Sirenomelia syndrome 1799 2 0.9495614229796709 C0559469 Allergy to eggs 1798 2 1.0 C4015316 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 1798 2 1.0 C3501647 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to 1797 2 1.0 C4025283 Compensated hemolytic anemia 1797 2 1.0 C0022661 Kidney Failure, Chronic 1794 2 0.5360408004329413 C2316810 Chronic kidney disease stage 5 1794 2 0.5745825559846915 C0007786 Brain Ischemia 1793 2 0.6809085728112937 C0917798 Cerebral Ischemia 1793 2 0.6621997163984837 C1319853 Asthma, Aspirin-Induced 1792 2 0.2500239883917431 C1859648 Asthma, Nasal Polyps, And Aspirin Intolerance 1792 2 0.41882975550370916 C0011609 Drug Eruptions 1789 2 0.9993937790815747 C0406537 Morbilliform Drug Reaction 1789 2 0.9993923656294573 C0035305 Retinal Detachment 1787 2 0.6122910704788862 C0339546 Retinal Pigment Epithelial Detachment 1787 2 0.6155897910275362 C0494559 Diseases of inner ear 1786 2 1.0 C1832425 Deafness, Autosomal Dominant 9 1786 2 1.0 C1839736 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME 1785 2 0.38895250259740616 C3550903 CORNELIA DE LANGE SYNDROME 5 1785 2 0.29742385892933076 C0342684 Ocular albinism, type I 1782 2 0.9779932789979267 C3151752 NYSTAGMUS 6, CONGENITAL, X-LINKED 1782 2 0.9779609451758826 C0020725 Type II Mucolipidosis 1781 2 0.8444553521056336 C0033788 Pseudo-Hurler Polydystrophy 1781 2 0.9162207570366402 C1848651 Al Awadi syndrome 1778 2 1.0 C1856728 Fuhrmann syndrome 1778 2 1.0 C1846529 CONE-ROD DYSTROPHY 10 1777 2 1.0 C1853214 RETINITIS PIGMENTOSA 35 1777 2 1.0 C1836916 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA 1776 2 1.0 C1867923 Posterior column ataxia 1776 2 1.0 C0432328 Xeroderma pigmentosum, variant form 1773 2 1.0 C1848410 Xeroderma pigmentosum, variant type 1773 2 1.0 C0152915 Acute miliary tuberculosis 1772 2 1.0 C4013949 IMMUNODEFICIENCY 30 1772 2 1.0 C1864861 Tumoral Calcinosis, Normophosphatemic, Familial 1770 2 1.0 C4284088 MIRAGE SYNDROME 1770 2 1.0 C0021831 Intestinal Diseases 1769 2 0.16045635888817433 C0041582 Ulcer 1769 2 0.30176868286225256 C0154246 Urea Cycle Disorders, Inborn 1767 2 0.6727826532070149 C0268542 Ornithine carbamoyltransferase deficiency 1767 2 0.7308101652641853 C0267557 Secretory diarrhea 1766 2 0.5275118889809377 C2678346 Diarrhea 3, Secretory Sodium, Congenital, Syndromic 1766 2 0.6741573365128385 C0013363 Dysautonomia 1764 2 0.6671654799032101 C1145628 Autonomic nervous system disorders 1764 2 0.3421901059201606 C0009782 Connective Tissue Diseases 1763 2 0.5214293159438249 C2676510 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like 1763 2 0.6105216851278129 C1860405 Snowflake vitreoretinal degeneration 1762 2 0.9991353388790598 C3280062 LEBER CONGENITAL AMAUROSIS 16 1762 2 0.9991355169469426 C0021843 Intestinal Obstruction 1759 2 0.4246850904909229 C1859047 CYSTIC FIBROSIS MODIFIER 1 1759 2 0.5371449152882891 C0002514 Amino Acid Metabolism, Inborn Errors 1758 2 0.9997458193556344 C0750905 Amino Acid Metabolism, Inherited Disorders 1758 2 0.9997457981809971 C0005806 Blood Group Incompatibility 1757 2 0.8117784679370667 C0860218 ABO incompatibility 1757 2 0.800208731510822 C0010474 Curling Ulcer 1756 2 0.9221385845809931 C0013295 Duodenal Ulcer 1756 2 0.9243479921850533 C0162533 Porphyrias, Hepatic 1755 2 0.6533224288947128 C0268328 Porphobilinogen synthase deficiency 1755 2 0.7440070807168483 C0026650 Movement Disorders 1754 2 0.8255199927423146 C0266487 Etat Marbre 1754 2 0.8114893949278197 C0005747 Blepharospasm 1749 2 0.5636758404638886 C2930898 Benign essential blepharospasm 1749 2 0.6380295298670042 C3150801 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 1744 2 0.9405416247051087 C3539506 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 1744 2 0.9400269311959818 C1855126 3-Methylglutaconic Aciduria Type IV 1743 2 1.0 C3279699 Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 1743 2 1.0 C1409412 Periostosis 1741 2 1.0 C3280800 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 1741 2 1.0 C0029411 Osteoarthropathy, Primary Hypertrophic 1740 2 0.9404728080691622 C2678439 CRANIOOSTEOARTHROPATHY 1740 2 0.9528313186908645 C1836173 Generalized Epilepsy and Paroxysmal Dyskinesia 1738 2 0.9882001306649099 C4539985 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1738 2 0.9881727607209994 C0235222 Diastolic hypertension 1737 2 0.324754344661128 C1837739 Hypertension, Diastolic, Resistance to 1737 2 0.5843464757410313 C0393933 Pseudomyopathic myasthenia 1734 2 1.0 C3552335 MYASTHENIC SYNDROME, CONGENITAL, 12 1734 2 1.0 C0014867 Esophageal Varices 1733 2 0.6350096126274755 C0017145 Gastric Varix 1733 2 0.6760817366349227 C0149821 ACUTE ALCOHOL WITHDRAWAL 1731 2 0.6741994823480865 C3554691 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 1731 2 0.6653230555327193 C0018776 Hearing Loss, Central 1728 2 0.9066214349850273 C0018780 Hearing Loss, High-Frequency 1728 2 0.9075590849361765 C0039128 Syphilis 1727 2 0.375610952098552 C4310772 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 1727 2 0.32760471436713395 C1969639 Cardiomyopathy, Dilated, 1w 1725 2 1.0 C2750459 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 1725 2 1.0 C0948441 Venoocclusive disease 1724 2 0.2574309206206856 C1856128 Hepatic venoocclusive disease with immunodeficiency 1724 2 0.4996618333864532 C0270921 Axonal neuropathy 1720 2 0.9135486148895609 C1263857 Peripheral axonal neuropathy 1720 2 0.9132666940481179 C3810175 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY 1719 2 0.9962600971483832 C4225342 RETINITIS PIGMENTOSA 71 1719 2 0.9962491437281913 C0265245 Nager syndrome 1718 2 1.0 C1860119 Acrofacial dysostosis Rodriguez type 1718 2 1.0 C0026769 Multiple Sclerosis 1715 2 0.7674858034954587 C0751324 Multiple Sclerosis, Acute Fulminating 1715 2 0.778939656277421 C1857777 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 1714 2 0.995922424570712 C2752072 Cardiomyopathy, Dilated, 1BB 1714 2 0.9959411723834988 C0162830 Dermatitis, Phototoxic 1711 2 1.0 C1527358 Phototoxicity 1711 2 1.0 C0220988 Xanthinuria 1706 2 0.5009646902859035 C0268118 Xanthinuria, Type I 1706 2 0.6855347482767011 C1838656 Macrocytosis, Familial 1704 2 1.0 C4015537 THROMBOCYTOPENIA 5 1704 2 1.0 C1855255 Pseudoarylsulfatase A Deficiency 1700 2 1.0 C2713319 Arylsulfatase A Deficiency 1700 2 1.0 C0005741 Blepharitis 1695 2 0.9999999999999978 C0339063 Cellulitis of eyelid 1695 2 0.9999999999999978 C0238044 Concentric hypertrophic cardiomyopathy 1693 2 0.5837644351220689 C1864840 Combined Oxidative Phosphorylation Deficiency 3 1693 2 0.65340542822658 C1836474 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 1692 2 1.0 C1876161 CEROID LIPOFUSCINOSIS, NEURONAL, 2 1692 2 1.0 C4225313 BETHLEM MYOPATHY 2 1690 2 1.0 C4225314 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 1690 2 1.0 C0948245 Cytokine release syndrome 1689 2 1.0 C3150738 Antibody Deficiency due to Defect in CD19 1689 2 1.0 C0268595 Glutaric aciduria, type 1 1687 2 0.9893526945350988 C4024972 Symmetrical progressive peripheral demyelination 1687 2 0.9893212140445037 C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA 1684 2 0.9120110256532106 C3540845 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8 1684 2 0.9287654057951159 C3496228 Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 1683 2 1.0 C3668943 Fatty Acid Hydroxylase-Associated Neurodegeneration 1683 2 1.0 C2748055 Hypoinsulinaemia (disorder) 1682 2 1.0 C4015710 TENORIO SYNDROME 1682 2 1.0 C1858677 LEBER CONGENITAL AMAUROSIS 3 (disorder) 1680 2 1.0 C2751780 Retinitis Pigmentosa, Juvenile, SPATA7-Related 1680 2 1.0 C1840284 LEBER CONGENITAL AMAUROSIS 11 1679 2 1.0 C1867299 Retinitis Pigmentosa 10 1679 2 1.0 C1833296 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 1678 2 0.9968649047872081 C1836076 Amyotrophic Lateral Sclerosis, Chmp2B-Related 1678 2 0.9968617230359526 C0342770 Fumarase deficiency 1677 2 1.0 C2936826 Fumaric aciduria 1677 2 1.0 C0268601 HMG CoA lyase deficiency 1674 2 1.0 C1533587 Hydroxymethylglutaric aciduria 1674 2 1.0 C0014394 Enuresis 1671 2 0.20966635890501764 C3554520 UROFACIAL SYNDROME 2 1671 2 0.4159675632417093 C1866259 Peroxisome Biogenesis Disorder, Complementation Group 13 1670 2 0.7716336185757453 C1866260 Peroxisome Biogenesis Disorder, Complementation Group H 1670 2 0.8133352013030262 C3554000 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) 1669 2 0.9012942939516393 C3554001 PEROXISOME BIOGENESIS DISORDER 11B 1669 2 0.8016209522598845 C1859598 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA 1668 2 0.9091044112726661 C4275170 Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 1668 2 0.9167319571695101 C1864850 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 1666 2 1.0 C4310824 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, AND MILD PALMOPLANTAR KERATODERMA WITH OR WITHOUT WOOLLY HAIR 1666 2 1.0 C0034186 Pyelonephritis 1663 2 0.30285387466687214 C1704315 Pyelonephritis acute necrotizing 1663 2 0.5502878196598807 C1858679 CATARACT, AUTOSOMAL DOMINANT 1658 2 0.9880133262157748 C3888098 Cataract, Autosomal Recessive Congenital 1 1658 2 0.98816940786915 C0342778 Ubiquinone dehydrogenase deficiency 1655 2 0.8598979150097114 C1852372 MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 1655 2 0.8806601599968179 C1865951 Ectodermal Dysplasia, Pure Hair-Nail Type 1654 2 0.40715337277170366 C3554127 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE 1654 2 0.5632680307570415 C0010403 Cryoglobulinemia 1653 2 0.24848981498031333 C0341106 Eosinophilic esophagitis 1653 2 0.324086979685759 C0748140 Multiple pulmonary infections 1650 2 0.9706120916814711 C0876973 Infectious disease of lung 1650 2 0.9703796528996891 C0022638 Ketosis 1647 2 0.9934333057638904 C0235430 Ketonemia 1647 2 0.9934126622468727 C0268147 Glycogen storage disease, type IX 1646 2 0.7378631018942508 C0543514 Glycogen Storage Disease IXB 1646 2 0.8461458948653674 C0221005 Mauriac\'s syndrome 1645 2 0.8881871104799041 C2751643 Glycogen Storage Disease IXC 1645 2 0.8640527458314086 C3150754 GLYCOGEN STORAGE DISEASE XV 1643 2 1.0 C4015452 POLYGLUCOSAN BODY MYOPATHY 2 1643 2 1.0 C0008370 Cholestasis 1641 2 0.5438031918208762 C1112213 Cholestasis in newborn 1641 2 0.4534190889884303 C0035869 Rotavirus Infections 1637 2 0.2095573791608353 C0267446 Acute gastroenteritis 1637 2 0.42568256794379544 C0268152 Classical galactosemia, homozygous Duarte-type 1636 2 1.0 C3278146 GALACTOSEMIA, DUARTE VARIANT 1636 2 1.0 C0026691 Mucocutaneous Lymph Node Syndrome 1628 2 0.3142582999686687 C3150618 Maturity-onset diabetes of the young, type 11 1628 2 0.32880966290534697 C0410422 Chronic multifocal osteomyelitis 1627 2 0.8912127658731991 C1864997 Majeed syndrome 1627 2 0.8944311834842161 C0302809 Fulminant hepatitis 1626 2 0.26984945370178737 C1845076 Lymphoproliferative Syndrome, X-Linked, 2 1626 2 0.637966903394934 C1832998 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 1624 2 1.0 C3152083 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, WITH MYOPATHY 1624 2 1.0 C1845408 Contiguous Abcd1-Dxs1375e Deletion Syndrome 1623 2 0.8377425196350115 C3806634 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION 1623 2 0.8860174567657735 C0162309 Adrenoleukodystrophy 1622 2 0.9569988315289044 C1527231 Adrenomyeloneuropathy 1622 2 0.9533318231224774 C0034069 Pulmonary Fibrosis 1621 2 0.8183503591523228 C0085786 Hamman-Rich syndrome 1621 2 0.7686256632017731 C0241984 Honeycomb lung 1620 2 0.878243287721025 C1800706 Idiopathic Pulmonary Fibrosis 1620 2 0.8686501159010562 C0006114 Cerebral Edema 1619 2 0.6696084460855803 C1527311 Brain Edema 1619 2 0.6891044518266577 C1855923 Hyperphosphatasia with Mental Retardation 1617 2 0.23977441429329463 C3553637 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 1617 2 0.4448050821973686 C0272242 Complement deficiency disease 1616 2 0.05908131845707539 C1864694 Complement Component 7 Deficiency 1616 2 0.3791243296303916 C2676767 CD59 Deficiency 1614 2 0.9995880713125456 C3872560 Acute vascular graft rejection 1614 2 0.9995880480031659 C2931618 Gestational trophoblastic disease 1613 2 0.7667495765408541 C3463897 HYDATIDIFORM MOLE, RECURRENT, 1 1613 2 0.737995914660835 C3502073 Woolly Hair, Autosomal Recessive 1611 2 0.9824197758040908 C4225214 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 1611 2 0.9839865392557181 C0018425 Gyrate Atrophy 1610 2 0.9876021649742881 C0599035 Hyperornithinemia 1610 2 0.9874534102975732 C0001125 Acidosis, Lactic 1608 2 0.164081161727295 C0751651 Mitochondrial Diseases 1608 2 0.25015204582021705 C0042928 Vocal Cord Paralysis 1603 2 0.9905396018702384 C0086523 Laryngeal Paralysis 1603 2 0.990510729046293 C3553358 COENZYME Q10 DEFICIENCY, PRIMARY, 3 1602 2 0.37791205537038886 C3553374 COENZYME Q10 DEFICIENCY, PRIMARY, 5 1602 2 0.3554669543959837 C0011263 Multi-infarct dementia 1596 2 0.8585264025832542 C0011269 Dementia, Vascular 1596 2 0.8364271396075592 C1861106 Thyrotropin-Releasing Hormone Resistance, Generalized 1589 2 1.0 C4511136 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 1589 2 1.0 C0271789 Hypothyroidism, Congenital, Nongoitrous, 4 1588 2 0.9986729298597603 C4082174 Thyrotropin deficiency, isolated 1588 2 0.9986728115370451 C1836482 Li-Fraumeni Syndrome 2 1586 2 0.32397109391295165 C4280575 Progressive brain disease 1586 2 0.09162557557979803 C3151188 NEPHRONOPHTHISIS 9 1583 2 1.0 C3809434 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 1583 2 1.0 C3554235 JOUBERT SYNDROME 20 1580 2 1.0 C3809352 MECKEL SYNDROME, TYPE 11 1580 2 1.0 C3539071 NEPHRONOPHTHISIS 14 1579 2 1.0 C3553846 JOUBERT SYNDROME 19 1579 2 1.0 C0031485 Phenylketonurias 1576 2 0.691260932900308 C0085547 Phenylketonuria, Maternal 1576 2 0.8294003068769695 C1859311 Microphthalmia, Isolated, with Cataract 2 1573 2 1.0 C4225424 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY 1573 2 1.0 C1857423 Cystic Kidney Disease with Ventriculomegaly 1572 2 1.0 C4015555 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 1572 2 1.0 C1853566 Genitopatellar Syndrome 1571 2 1.0 C1863557 Young Simpson syndrome 1571 2 1.0 C1846979 SENIOR-LOKEN SYNDROME 4 1570 2 0.9262537993299472 C1847013 NEPHRONOPHTHISIS 4 1570 2 0.9313663750352317 C0220687 KBG syndrome 1565 2 1.0 C4304594 16q24.3 microdeletion syndrome 1565 2 1.0 C0271907 Acquired aplastic anemia 1564 2 0.2741952790412705 C0744855 hepatitis immune 1564 2 0.3134045287442611 C0265226 Hecht syndrome (disorder) 1562 2 0.9526626199813184 C1837245 Carney Complex Variant 1562 2 0.9618723633104617 C0206172 Diabetic Foot 1560 2 0.39158912583679123 C3809536 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS 1560 2 0.4825095762737312 C0268583 Methylmalonic acidemia 1558 2 0.9608221398238118 C1855119 Methylmalonic aciduria 1558 2 0.9619595629354671 C0574084 3-Methylglutaconic aciduria type 3 1557 2 0.9397501253879379 C1833809 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 1557 2 0.9392460036585911 C2751986 RETINITIS PIGMENTOSA 42 1553 2 1.0 C4310742 COLD-INDUCED SWEATING SYNDROME 3 1553 2 1.0 C0242994 Hantavirus Infections 1550 2 0.3457132766276379 C1842362 HERMANSKY-PUDLAK SYNDROME 2 1550 2 0.5288407959120289 C1834690 Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 1548 2 1.0 C3280220 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O 1548 2 1.0 C2675188 Kallmann Syndrome 6 1547 2 1.0 C3552574 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA 1547 2 1.0 C1857720 KALLMANN SYNDROME 4 (disorder) 1546 2 1.0 C3552343 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA 1546 2 1.0 C1969062 Cataract, Congenital Nuclear, Autosomal Recessive 3 1545 2 1.0 C3888124 CATARACT 17, MULTIPLE TYPES 1545 2 1.0 C0796085 Nance-Horan syndrome 1543 2 1.0 C2930878 Cataract, congenital, with microcornea or slight microphthalmia 1543 2 1.0 C0023240 Legionellosis 1541 2 1.0 C3809001 CATARACT 15, MULTIPLE TYPES 1541 2 1.0 C0392557 Nuclear cataract 1539 2 0.9728213294750262 C1112705 Nuclear non-senile cataract 1539 2 0.9730895139831194 C1861828 Cataract, Zonular Pulverulent 1 1538 2 0.9995307914643872 C1866984 Sclerocornea, Autosomal Dominant 1538 2 0.9995339311877735 C1845294 Ovarian Dysgenesis 2 1536 2 1.0 C1845295 Premature Ovarian Failure 4 1536 2 1.0 C3151402 CANDIDIASIS, FAMILIAL, 5 1535 2 1.0 C4310803 IMMUNODEFICIENCY 51 1535 2 1.0 C0006845 Candidiasis, Chronic Mucocutaneous 1533 2 0.23869352491657703 C0007971 Cheilitis 1533 2 0.39024983625431026 C0015519 Factor X Deficiency 1531 2 0.9791979989399117 C2873787 Deficiency of factor X [Stuart-Prower] 1531 2 0.9823409279708865 C0026267 Mitral Valve Prolapse Syndrome 1530 2 0.15666223115234226 C2930833 Irritable heart 1530 2 0.4252120612102843 C0024117 Chronic Obstructive Airway Disease 1529 2 0.6912310300548151 C1527303 Chronic Airflow Obstruction 1529 2 0.7003753972171192 C0151559 Central nervous system depression (disorder) 1527 2 0.596908233595892 C1837154 Drug Metabolism, Poor, CYP2D6-Related 1527 2 0.5224912215605763 C0392702 Abnormal involuntary movement 1526 2 1.0 C1860861 TREMOR, HEREDITARY ESSENTIAL, 1 1526 2 1.0 C0018801 Heart failure 1523 2 0.966996233275587 C0018802 Congestive heart failure 1523 2 0.9664922736405422 C0272167 Reticular dysgenesis 1521 2 1.0 C1282908 De Vaal\'s syndrome 1521 2 1.0 C0220666 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 1519 2 0.9267305730286896 C1862472 Oculomelic amyoplasia 1519 2 0.9171211486969697 C0796033 MARDEN-WALKER SYNDROME 1518 2 0.9387436551822557 C4310692 ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 1518 2 0.9349076696179686 C0026703 Mucopolysaccharidoses 1515 2 0.545868066783563 C2749929 Musician\'s Dystonia 1515 2 0.6946182617384036 C0004763 Barrett Esophagus 1513 2 0.8713853434821535 C1258085 Barrett Epithelium 1513 2 0.875585590888454 C0877221 Decreased erythroid precursor production 1511 2 1.0 C2676137 Diamond-Blackfan Anemia 1 1511 2 1.0 C0019189 Hepatitis, Chronic 1508 2 0.8377361268563314 C0149519 Chronic Persistent Hepatitis 1508 2 0.8262575274558098 C0520463 Chronic active hepatitis 1507 2 0.7121785764455856 C0524611 Cryptogenic Chronic Hepatitis 1507 2 0.6128263576684341 C0235812 Vitritis 1506 2 0.5514805143348978 C0796070 MICROPHTHALMIA, SYNDROMIC 7 1506 2 0.7276080923947152 C0003864 Arthritis 1503 2 0.3662407056719722 C0162323 Polyarthritis 1503 2 0.2836236717604402 C1843096 Acrocapitofemoral Dysplasia 1502 2 0.8745123430081757 C1862151 BRACHYDACTYLY, TYPE A1 (disorder) 1502 2 0.8338650957052638 C0235840 Neonatal diarrhea 1500 2 0.9999999999999984 C0495452 Noninfective neonatal diarrhea 1500 2 0.9999999999999984 C2750737 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 1499 2 0.9992596970705808 C4275062 Intestinal epithelial dysplasia 1499 2 0.9992593093388547 C0006266 Bronchial Spasm 1498 2 1.0 C1837371 Sudden Infant Death with Dysgenesis of the Testes Syndrome 1498 2 1.0 C0017658 Glomerulonephritis 1497 2 0.7380938742347447 C1704377 Bright Disease 1497 2 0.7126679898828584 C3266102 Steroid resistant nephrotic syndrome of childhood 1495 2 0.6802326706319196 C3496337 Idiopathic Nephrotic Syndrome 1495 2 0.5771009467274666 C1271398 Pigment dispersion syndrome (disorder) 1492 2 0.6484561206792332 C1849409 Knobloch syndrome 1492 2 0.6273885657702812 C0008350 Cholelithiasis 1491 2 0.49590903592182917 C0947622 Cholecystolithiasis 1491 2 0.405946169327562 C0268532 Deficiency of prolidase 1486 2 1.0 C1868496 Crusting erythematous dermatitis 1486 2 1.0 C0016977 Gall Bladder Diseases 1483 2 0.33339552239079984 C3275124 Biliary System Disorder 1483 2 0.4843113020635257 C0751657 Nemaline Myopathy, Autosomal Recessive 1481 2 0.9077958032644774 C1850569 Nemaline Myopathy 2 1481 2 0.9150206957111443 C0494491 Mononeuropathies 1476 2 0.8486055939681488 C4225318 EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 1476 2 0.8576804381377912 C0398788 Immunodeficiency syndrome, variable 1474 2 1.0 C0494266 Other specified immunodeficiencies 1474 2 1.0 C0241423 Atrophy of tongue 1472 2 0.06702470554463351 C3472711 Spinocerebellar ataxia 36 1472 2 0.33752033883368693 C0221260 Dystrophia unguium 1471 2 0.3446832338711288 C1834405 Nail dysplasia 1471 2 0.370343242850545 C1853205 Glycosylphosphatidylinositol deficiency 1470 2 0.44828598636543987 C4014958 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 1470 2 0.38532317021966167 C0040147 Thyroiditis 1469 2 0.42875706061568897 C0040558 Toxoplasmosis 1469 2 0.5598850919242668 C1864498 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE 1468 2 0.9127374358139279 C1864499 Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss 1468 2 0.9148666212750591 C0543669 Neutrophilia, Hereditary 1466 2 1.0 C4310764 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE 1466 2 1.0 C3280155 MECKEL SYNDROME, TYPE 9 1463 2 1.0 C4310706 JOUBERT SYNDROME 27 1463 2 1.0 C0020494 Hyperostosis Frontalis Interna 1462 2 1.0 C0268425 Alstrom Syndrome 1462 2 1.0 C1834703 Neuropathy, Distal Hereditary Motor, Type VIIA 1461 2 1.0 C4310694 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 1461 2 1.0 C2986691 Inherited bone marrow failure syndrome 1458 2 0.9380677966232861 C4310744 BONE MARROW FAILURE SYNDROME 3 1458 2 0.9364712329965857 C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 1455 2 0.362621624588031 C4012727 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 1455 2 0.6612955252399989 C0431391 Hemimegalencephaly 1454 2 0.39457423743753106 C4014738 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 1454 2 0.6672655055693232 C0340968 Deficiency of pyruvate kinase 1449 2 1.0 C1863224 Adenosine Triphosphate, Elevated, Of Erythrocytes 1449 2 1.0 C0023195 Lecithin Acyltransferase Deficiency 1445 2 0.9993262229447796 C0342895 Fish-Eye Disease 1445 2 0.9993261949557135 C4225347 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 1444 2 1.0 C4225356 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 1444 2 1.0 C0406727 Orofaciodigital syndrome 4 1443 2 1.0 C3553758 JOUBERT SYNDROME 18 1443 2 1.0 C1858172 Deafness, Autosomal Dominant 20 1442 2 1.0 C3281235 BARAITSER-WINTER SYNDROME 2 1442 2 1.0 C1846331 Juvenile-onset dystonia 1441 2 1.0 C1858042 Becker Nevus Syndrome 1441 2 1.0 C0029429 Osteochondrosis 1440 2 0.8069608419822124 C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 1440 2 0.42585686664009964 C3809454 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 1437 2 1.0 C4225398 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 1437 2 1.0 C3280526 ARTHROGRYPOSIS, DISTAL, TYPE 1B 1436 2 0.9249505911485285 C3554046 LETHAL CONGENITAL CONTRACTURE SYNDROME 4 1436 2 0.9314737620755409 C0014335 Enteritis 1434 2 0.9879426557371656 C2677093 Inflammatory Bowel Disease 16 1434 2 0.9879025609714773 C0151718 Hypocholesterolemia 1433 2 0.33012678812714935 C1863551 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 1433 2 0.19665291281432154 C1335029 Non-Neoplastic Peripheral Nervous System Disorder 1430 2 0.5023225742943741 C3279662 Leukotriene C4 Synthase Deficiency 1430 2 0.4994289514241443 C1291312 Deficiency of oxidase 1429 2 0.3943931652889704 C1857252 2,4-Dienoyl-CoA Reductase Deficiency 1429 2 0.3631631093253017 C0034065 Pulmonary Embolism 1427 2 0.6524673775362397 C0524702 Pulmonary Thromboembolisms 1427 2 0.6302504985902627 C0403447 Chronic Kidney Insufficiency 1424 2 0.5463277892484285 C1561643 Chronic Kidney Diseases 1424 2 0.5495568407106833 C0268634 Disorder of fatty acid metabolism 1421 2 0.4142135623730946 C1829703 Carnitine palmitoyl transferase 1A deficiency 1421 2 0.688091627288736 C0235831 Renal Cell Dysplasia 1419 2 0.9997021305126301 C1840333 Barakat syndrome 1419 2 0.999702159679974 C1827377 Slow acetylator due to N-acetyltransferase enzyme variant 1417 2 0.8526657136218124 C1827820 Fast acetylator due to N-acetyltransferase enzyme variant 1417 2 0.8345100102085748 C0028796 Dermatitis, Occupational 1416 2 1.0 C0086457 Industrial Dermatosis 1416 2 1.0 C0026780 Mumps 1414 2 1.0 C1562585 Leprosy, Multibacillary 1414 2 1.0 C2674705 Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 1413 2 1.0 C4310752 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS 1413 2 1.0 C0271379 Convergence Insufficiency 1412 2 1.0 C1327918 Oculootoradial syndrome 1412 2 1.0 C0751084 Duane Retraction Syndrome, Type 3 1411 2 0.9288851923516019 C1623209 Okihiro Syndrome 1411 2 0.870338528760967 C0429468 Anovulatory (finding) 1406 2 0.47168332213328373 C1960447 Hypergonadotropic amenorrhea 1406 2 0.7173063832417884 C0272175 Immune neutropenia 1404 2 0.6026267298452191 C0272176 Alloimmune neonatal neutropenia 1404 2 0.15755240005121957 C0033770 Prune Belly Syndrome 1402 2 1.0 C0265363 Urethral obstruction sequence 1402 2 1.0 C1858379 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 1400 2 0.9222963967124262 C3553060 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT 1400 2 0.9200732965020476 C0024141 Lupus Erythematosus, Systemic 1399 2 0.6904219687182155 C0242380 Libman-Sacks Disease 1399 2 0.7499467658043006 C2713442 Polyposis, Adenomatous Intestinal 1396 2 0.9549088640514688 C2713443 Familial Intestinal Polyposis 1396 2 0.9677247120984537 C0031115 Peripheral angiopathy in diseases classified elsewhere 1394 2 0.6809517019828334 C0750151 Vaso-Occlusive Crisis 1394 2 0.7025588374726794 C3808899 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 1393 2 0.9435324364824292 C4015062 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 1393 2 0.9438218026003791 C2700431 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE 1392 2 1.0 C3276276 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 1392 2 1.0 C0162835 Hypopigmentation disorder 1390 2 0.2647585969412623 C1855772 Absent corpus callosum cataract immunodeficiency 1390 2 0.41660837285959146 C0027609 Neonatal Abstinence Syndrome 1384 2 1.0 C1837893 SCHIZOPHRENIA 12 1384 2 1.0 C0011876 Diabetic cataract 1383 2 0.6845916832455673 C1514284 Potassium Deficiency Disorder 1383 2 0.6915367632325774 C0003949 Asbestosis 1382 2 0.9807273029522207 C2930617 Pulmonary Fibrosis - from Asbestos Exposure 1382 2 0.9824692793094654 C0752100 Autosomal Recessive Parkinsonism 1379 2 0.27047966988755523 C0752105 Parkinsonism, Juvenile 1379 2 0.42568383807760807 C1834144 Sick Sinus Syndrome 2, Autosomal Dominant 1375 2 1.0 C2751083 Brugada Syndrome 8 1375 2 1.0 C1853247 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 1373 2 1.0 C3553656 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB 1373 2 1.0 C0003257 Antibody Deficiency Syndrome 1372 2 0.590638217785264 C0021051 Immunologic Deficiency Syndromes 1372 2 0.6290146726113154 C0393441 Chronic lymphocytic meningitis 1369 2 0.952923294256496 C2931418 Bare lymphocyte syndrome 2 1369 2 0.9525422081042838 C1611706 Myosclerosis 1367 2 1.0 C1850671 Myosclerosis, Autosomal Recessive 1367 2 1.0 C2937300 Congenital hereditary muscular dystrophy 1366 2 1.0 C4225336 DYSTONIA 27 1366 2 1.0 C0410179 Scleroatonic muscular dystrophy 1365 2 0.9456440868800721 C1834674 Bethlem myopathy 1365 2 0.9603115178934493 C0265252 Coffin-Lowry syndrome 1361 2 0.8923440026191143 C0796225 Mental Retardation, X-Linked 19 1361 2 0.841870292427263 C0019202 Hepatolenticular Degeneration 1359 2 0.8322336301158125 C1527352 Hepatic Form of Wilson Disease 1359 2 0.8498649569462582 C0149516 Chronic sinusitis 1353 2 0.9591948564626167 C0748720 Chronic sinus disease 1353 2 0.9595087421486806 C0006271 Bronchiolitis 1352 2 0.3312540847342675 C1858266 Bare Lymphocyte Syndrome, Type I 1352 2 0.24502772855938024 C1840451 MULTICYSTIC RENAL DYSPLASIA, BILATERAL 1351 2 0.8219941377015715 C4048262 Hydronephrosis Due To Pujo 1351 2 0.8913585667593398 C0796081 Myhre syndrome 1346 2 1.0 C1832942 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 1346 2 1.0 C3714239 Bmpr1a-Related Juvenile Polyposis 1344 2 0.9999999999999948 C3714240 Smad4-Related Juvenile Polyposis 1344 2 0.9999999999999948 C1832940 JUVENILE POLYPOSIS OF STOMACH 1343 2 0.9984685729766599 C1868081 Juvenile Polyposis Coli 1343 2 0.9984707150975516 C0268414 Hyperphosphatasemia with bone disease 1342 2 0.8634178441561433 C0268531 Hydroxyprolinemia 1342 2 0.8706604906880621 C0011875 Diabetic Angiopathies 1341 2 0.850895393260987 C0025945 Microangiopathy, Diabetic 1341 2 0.8671675462631167 C0040896 Trichinellosis 1338 2 0.9676544328470965 C1854158 DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) 1338 2 0.9605823048033109 C0042847 Vitamin B 12 Deficiency 1337 2 0.400561110536149 C3553915 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE 1337 2 0.5571722360340035 C0037772 Spastic Paraplegia 1334 2 0.47798398948065973 C0037773 Spastic Paraplegia, Hereditary 1334 2 0.5215643194282595 C0796032 Malpuech facial clefting syndrome 1333 2 0.8704302610862289 C4303860 Craniofacial ulnar renal syndrome 1333 2 0.7276725189747749 C0796059 Oculopalatoskeletal syndrome 1332 2 0.6281914918572573 C0796279 Carnevale syndrome 1332 2 0.6570300110624726 C0036305 Schamberg Disease 1331 2 1.0 C0549567 Pigmentation Disorders 1331 2 1.0 C0271441 Chronic otitis media 1330 2 0.9999999999999974 C0743359 Chronic ear infection 1330 2 0.9999999999999974 C0029443 Osteomyelitis 1329 2 0.9832826353354623 C2242472 Infection of bone 1329 2 0.9826623854653898 C0030469 Paranasal Sinus Diseases 1327 2 0.42537582967904675 C0037199 Sinusitis 1327 2 0.5000930989680978 C3809872 PERIVENTRICULAR NODULAR HETEROTOPIA 6 1325 2 1.0 C4304514 6q terminal deletion syndrome 1325 2 1.0 C0035372 Rett Syndrome 1323 2 0.24929829845476545 C2748910 Rett Syndrome, Atypical 1323 2 0.46126776471057246 C0345407 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 1321 2 0.9978569697707201 C1849435 Renal tubular acidosis, distal, type 3 1321 2 0.9978561015033085 C1568248 Usher Syndrome, Type III 1318 2 0.7123887868143819 C3280041 RETINITIS PIGMENTOSA 61 1318 2 0.8064481575566744 C0030246 Pustulosis of Palms and Soles 1315 2 0.801619926146191 C0033860 Psoriasis 1315 2 0.7984578066991369 C3806917 CRANIOSYNOSTOSIS 4 1314 2 1.0 C4310679 CHITAYAT SYNDROME 1314 2 1.0 C0085577 Normocytic anemia 1313 2 0.43670068381445454 C0235983 Normochromic anemia 1313 2 0.43670068381445454 C0268600 3-methylcrotonyl CoA carboxylase 1 deficiency 1311 2 0.6074998856569657 C4025020 Acute hepatic steatosis 1311 2 0.6189166498244726 C2748568 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 1308 2 1.0 C4014557 MYOPATHY, TUBULAR AGGREGATE, 2 1308 2 1.0 C0152096 Complete trisomy 18 syndrome 1307 2 0.26881218705235116 C1863081 alpha-Fetoprotein Deficiency 1307 2 0.5567876295644395 C1865270 BARTTER SYNDROME, TYPE 4A 1306 2 1.0 C2748440 Sensorineural Deafness With Mild Renal Dysfunction 1306 2 1.0 C1846343 Bartter syndrome, type 3 1305 2 1.0 C1846344 Bartter Syndrome, Type 3, with Hypocalciuria 1305 2 1.0 C0348460 Other hyperaldosteronism 1303 2 0.18878692946233366 C1866495 Bartter syndrome, antenatal type 1 1303 2 0.21334010510510157 C0004775 Bartter Disease 1302 2 0.3649923921678137 C0740898 Hypokalemic metabolic alkalosis 1302 2 0.45535063513060364 C1859844 LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 1300 2 1.0 C3151086 Retinitis Pigmentosa 20 1300 2 1.0 C0152443 Urethral diverticulum 1297 2 1.0 C1859330 Cardiac Valvular Defect, Developmental 1297 2 1.0 C1857276 Trichohepatoenteric Syndrome 1295 2 0.5561795928082592 C3281289 TRICHOHEPATOENTERIC SYNDROME 2 1295 2 0.5484954582860951 C1859312 CAMFAK syndrome 1292 2 1.0 C2931277 Pena Shokeir syndrome Type 2 1292 2 1.0 C0020241 Hydroa Vacciniforme 1291 2 0.9691996983110974 C1833561 UV-Sensitive Syndrome 1291 2 0.9663567408071206 C1862511 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) 1286 2 1.0 C3810012 RIENHOFF SYNDROME 1286 2 1.0 C1842124 BRANCHIOOTIC SYNDROME 3 (disorder) 1285 2 1.0 C1854594 DEAFNESS, AUTOSOMAL DOMINANT 23 1285 2 1.0 C1833691 Otofaciocervical Syndrome 1284 2 0.9999999999999992 C2931416 Fara Chlupackova syndrome 1284 2 0.9999999999999992 C1260894 Hypertrophic obesity 1282 2 1.0 C1864689 MICROPHTHALMIA, SYNDROMIC 6 (disorder) 1282 2 1.0 C1833563 Cleft Lip, Congenital Healed 1281 2 0.8115500369799729 C2677434 OROFACIAL CLEFT 11 1281 2 0.446729525538831 C0017155 Gastritis, Hypertrophic 1278 2 0.6518707927038697 C0162770 Right Ventricular Hypertrophy 1278 2 0.5484907317733222 C0038454 Cerebrovascular accident 1277 2 0.8584004616652123 C0751956 Acute Cerebrovascular Accidents 1277 2 0.868633949353947 C0000809 Abortion, Habitual 1274 2 0.45258826509498923 C0004509 Azoospermia 1274 2 0.17912247405891452 C0025281 Meniere Disease 1272 2 0.5143358249322583 C1858725 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 1272 2 0.44862484557843674 C3148763 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E 1269 2 0.8301178655397525 C3501858 Muscular Dystrophy, Limb-Girdle, Type 1D 1269 2 0.8973314765730086 C0235574 Intravascular hemolysis 1267 2 0.9827146256296009 C0312854 Extravascular Hemolysis 1267 2 0.9830977683208306 C0024473 Magnesium Deficiency 1264 2 0.8519725714103367 C1835171 Hypomagnesemia 2, renal 1264 2 0.7928069214285572 C0221018 Hereditary sideroblastic anemia 1263 2 0.9963827441503526 C2677889 Protoporphyria, Erythropoietic, X-Linked Dominant 1263 2 0.9963803420643061 C4225425 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY 1261 2 0.6681844956895604 C4274077 Autosomal recessive sideroblastic anemia 1261 2 0.14426450077914602 C1859722 Arthrogryposis renal dysfunction cholestasis syndrome 1255 2 0.8186797869065376 C3150672 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 1255 2 0.8228974361357007 C0027613 Neonatal hepatitis 1254 2 0.9682043586549721 C4020697 Giant cell hepatitis on liver biopsy 1254 2 0.9674837487832815 C1858328 Bile acid synthesis defect, congenital, 4 1253 2 0.9984929899378958 C3280428 Alpha-Methylacyl-CoA Racemase Deficiency 1253 2 0.9984873102515498 C0220765 Weaver-Like Syndrome 1251 2 0.6898231103846117 C0265210 Weaver syndrome 1251 2 0.5050181380553252 C0175695 Sotos\' syndrome 1250 2 0.8131035803288529 C4304526 5q35 microduplication syndrome 1250 2 0.8034306746759059 C0432261 Osteopetrosis - intermediate type 1247 2 0.7944092834839236 C1969093 Osteopetrosis, Autosomal Recessive 6 1247 2 0.85206035659522 C1850126 Osteopetrosis, mild autosomal recessive form 1245 2 0.8524958902742232 C4025318 Chronic rhinitis due to narrow nasal airway 1245 2 0.890626014422713 C0242567 Opsoclonus 1243 2 0.3372519244148038 C0271344 Compression of optic nerve 1243 2 0.4229168795649106 C0686347 Tardive Dyskinesia 1242 2 1.0 C3714760 Drug-induced tardive dyskinesia 1242 2 1.0 C0276501 Human immunodeficiency virus II infection 1241 2 0.11505819125095162 C1832097 EPIDERMAL DIFFERENTIATION COMPLEX 1241 2 0.12157183903492909 C0265110 Cerebral Vasospasm 1240 2 0.856909349078789 C0751895 Vasospasm, Intracranial 1240 2 0.8652807622200493 C4225378 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY 1239 2 1.0 C4540355 JOUBERT SYNDROME 31 1239 2 1.0 C4225252 IMMUNODEFICIENCY 45 1237 2 0.7883097787584327 C4225260 IMMUNODEFICIENCY 44 1237 2 0.7751681058336038 C0265961 Erythrokeratodermia variabilis 1235 2 0.7027495107106456 C1851480 Greither Disease 1235 2 0.3866360885932889 C2750475 Focal Segmental Glomerulosclerosis 5 1234 2 1.0 C3280845 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E 1234 2 1.0 C1846790 JOUBERT SYNDROME 4 (disorder) 1232 2 0.23264485185005987 C1855681 Nephronophthisis, familial juvenile 1232 2 0.2217510721279588 C0403553 Renal dysplasia and retinal aplasia (disorder) 1231 2 0.2364294037739996 C0687120 Nephronophthisis 1231 2 0.3691188545802995 C0022679 Cystic kidney 1229 2 0.24890574427691486 C3887499 Renal cyst 1229 2 0.47156372814058795 C1969052 MECKEL SYNDROME, TYPE 5 1226 2 1.0 C1969053 JOUBERT SYNDROME 7 1226 2 1.0 C0265215 Meckel-Gruber syndrome 1225 2 0.3836049514725714 C1853235 Sclerocornea 1225 2 0.5256736191656237 C0013608 Edema, Cardiac 1220 2 0.45302791324890707 C0271287 Schnyder crystalline corneal dystrophy 1220 2 0.5772606340568648 C3150874 CRANIOECTODERMAL DYSPLASIA 2 1219 2 0.9603897250236316 C3279792 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY 1219 2 0.9599874819609588 C2931218 Tetraamelia multiple malformations 1216 2 1.0 C4012268 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE 1216 2 1.0 C0162530 Porphyria, Erythropoietic 1215 2 0.9855544368743117 C2718078 Deficiency of Uroporphyrinogen III Synthase 1215 2 0.9822748827213901 C0265354 CHARGE Syndrome 1214 2 0.9191471251905701 C2936502 Familial CHARGE Syndrome 1214 2 0.9003052600390744 C2675302 KALLMANN SYNDROME 5 (disorder) 1213 2 1.0 C3552553 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA 1213 2 1.0 C1970440 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) 1212 2 1.0 C4225231 TOOTH AGENESIS, SELECTIVE, 7 1212 2 1.0 C2910126 Patent or persistent ostium secundum defect (type II) 1209 2 1.0 C2910127 Patent or persistent sinus venosus defect 1209 2 1.0 C0342803 Dihydropyrimidinase deficiency 1203 2 0.8604144331357707 C3495551 Dihydropyrimidinuria 1203 2 0.712691386048266 C3280679 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET 1202 2 1.0 C3541476 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT 1202 2 1.0 C0018975 Hemeralopia 1200 2 0.9034254333436456 C3489704 Vision Disability 1200 2 0.897731631073227 C1843315 Neuronopathy, Distal Hereditary Motor, Type Viib 1197 2 0.9960557128089368 C1868594 Perry Syndrome 1197 2 0.996062658039412 C0016667 Fragile X Syndrome 1194 2 0.6335297051664865 C0751156 FRAXA Syndrome 1194 2 0.7758067151587146 C0268296 17-Hydroxysteroid Dehydrogenase Deficiency 1191 2 1.0 C1849695 Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency 1191 2 1.0 C0019269 Hermaphroditism 1190 2 0.9999999999999996 C2930619 Sex Differentiation Disorders 1190 2 0.9999999999999996 C1301959 Bulbar weakness 1188 2 0.8351462030862168 C4082299 Bulbar palsy 1188 2 0.6862034044571658 C0751594 Zellweger-Like Syndrome 1184 2 0.9527573024462028 C3658299 Zellweger Spectrum 1184 2 0.9478241001090023 C0043459 Zellweger Syndrome 1183 2 0.34734100004186846 C0282527 Infantile Refsum Disease (disorder) 1183 2 0.686536172588692 C0266427 Testicular regression syndrome 1179 2 1.0 C4510744 46,XY partial gonadal dysgenesis 1179 2 1.0 C1837805 Charcot-Marie-Tooth disease, axonal, Type 2G 1174 2 1.0 C3280797 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P 1174 2 1.0 C0751172 Adult Glycogen Storage Disease Type II 1170 2 0.9999999999999943 C0751174 Glycogen Storage Disease Type II, Juvenile 1170 2 0.9999999999999943 C0020500 Hyperoxaluria 1165 2 0.7050333460696698 C1298681 Oxalosis 1165 2 0.6996448578083098 C0268613 Disorder of sulfur-bearing amino acid metabolism 1164 2 0.8385223249579978 C1847720 Glycine N-Methyltransferase Deficiency 1164 2 0.6515407922638066 C0521857 Increased drug resistance 1162 2 1.0 C4540293 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1162 2 1.0 C0007196 Restrictive cardiomyopathy 1159 2 0.4540983319334666 C0348616 Other restrictive cardiomyopathy 1159 2 0.7425494796420091 C0342543 Central Precocious Puberty 1158 2 0.25321663309340026 C0342544 Idiopathic central precocious puberty 1158 2 0.5940290300661761 C0268225 Aspartylglucosaminuria 1156 2 1.0 C2931840 Aspartylglucosamidase (AGA) deficiency 1156 2 1.0 C0265239 Wildervanck\'s syndrome 1155 2 0.9734921881889739 C0265264 Holt-Oram syndrome 1155 2 0.969307644129151 C0042167 Uveitis, Posterior 1153 2 0.8208703388738278 C0264413 Late onset asthma 1153 2 0.8130589681681095 C1837454 SPINOCEREBELLAR ATAXIA 8 1149 2 0.792991233447728 C4275024 Spinocerebellar ataxia type 8 1149 2 0.6578129948411049 C0017668 Focal glomerulosclerosis 1140 2 0.8517050394665021 C0086432 Hyalinosis, Segmental Glomerular 1140 2 0.8689859232727554 C0011615 Dermatitis, Atopic 1139 2 0.8144777005822401 C0086196 Eczema, Infantile 1139 2 0.8337573830035265 C0033817 Pseudomonas Infections 1136 2 0.9736862246271955 C0854135 Pseudomonas aeruginosa infection 1136 2 0.970674399737973 C0021847 Intestinal Pseudo-Obstruction 1124 2 0.40317560541625125 C0030446 Paralytic Ileus 1124 2 0.5217970390924583 C0079588 Ichthyosis, X-Linked 1116 2 0.8451197571048528 C2717836 Steroid Sulfatase Deficiency Disease 1116 2 0.8718777664448114 C1839071 Spermatogenic Failure, Nonobstructive, Y-Linked 1106 2 0.4327609622978281 C2931163 Male sterility due to Y-chromosome deletions 1106 2 0.47755021174756546 C1838429 Epiphyseal dysplasia, multiple, 2 1101 2 1.0 C3280342 STICKLER SYNDROME, TYPE V 1101 2 1.0 C0158252 Intervertebral disc disorder 1100 2 0.9924896648170575 C0221775 Lumbar disc disease 1100 2 0.992695429962768 C0027341 Nail-Patella Syndrome 1099 2 0.919389630809904 C0403548 Salcedo syndrome 1099 2 0.9160041630983684 C3711376 Isodicentric Chromosome 15 Syndrome 1097 2 0.4164850544134028 C4310712 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 1097 2 0.1761085741518913 C3810313 DOWLING-DEGOS DISEASE 4 1096 2 1.0 C4310660 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Z 1096 2 1.0 C1865295 Auriculo-condylar syndrome 1095 2 0.22596025311926737 C3553404 AURICULOCONDYLAR SYNDROME 2 1095 2 0.5800479358559968 C2677338 Cardiomyopathy, Dilated, 1AA 1091 2 1.0 C4225403 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT VENTRICULAR NONCOMPACTION 1091 2 1.0 C0343055 Generalized pustular psoriasis 1089 2 0.573505897743746 C0392439 Acrodermatitis continua of Hallopeau 1089 2 0.6034108222593161 C2350170 Unilateral Nasal Obstruction 1088 2 1.0 C2350171 Bilateral Nasal Obstruction 1088 2 1.0 C0008489 Chorea 1087 2 0.5817541337085892 C4020858 Choreatic disease 1087 2 0.797168543895444 C0338488 Alternating hemiplegia of childhood 1079 2 0.6273434351817281 C1863062 Episodic quadriplegia 1079 2 0.5435616645304149 C1832567 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 1074 2 0.8855256294696279 C1853698 Rippling muscle disease 1074 2 0.7467506690198523 C0268060 Juvenile hemochromatosis 1073 2 0.7986019068876619 C1865614 HEMOCHROMATOSIS, TYPE 2A 1073 2 0.8448741067182745 C3809606 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 1072 2 0.8631453698009163 C4479569 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 1072 2 0.8886491791176292 C0020617 Hypoglycemic coma 1067 2 0.2767185585329721 C0877056 Hypoglycemic seizures 1067 2 0.45881319750080485 C0342273 Transient neonatal diabetes mellitus 1066 2 0.8246488115177177 C1832386 Diabetes Mellitus, Transient Neonatal, 1 1066 2 0.8316720892040002 C0342283 Hyperproinsulinemia 1065 2 0.9358660774827217 C3150617 Maturity-onset diabetes of the young, type 10 1065 2 0.9507603149588209 C0342277 Diabetes mellitus autosomal dominant type II (disorder) 1063 2 0.6926347369662348 C1865290 Hyperinsulinemic hypoglycemia, familial, 3 1063 2 0.8545320016886053 C1960469 Left ventricular noncompaction 1058 2 0.5811015942894953 C4021133 Left ventricular noncompaction cardiomyopathy 1058 2 0.5235726950831312 C0751544 Tangier Disease Neuropathy 1057 2 1.0 C3711531 Hdl Deficiency, Type 2 1057 2 1.0 C2931838 Familial HDL deficiency 1056 2 0.8280244139256444 C3165209 High density lipoprotein deficiency 1056 2 0.6891325170057602 C0473527 Hypoalphalipoproteinemias 1055 2 0.7017225025504562 C1704429 Hypoalphalipoproteinemia, Familial 1055 2 0.38058472407812377 C2674218 SPHEROCYTOSIS, TYPE 1 (disorder) 1051 2 0.8284806172811159 C4304505 8p11.2 deletion syndrome 1051 2 0.8662695367980746 C0037889 Hereditary spherocytosis 1050 2 0.6852414685881622 C0221409 Anemia, hereditary spherocytic hemolytic 1050 2 0.6685228857934489 C1838854 DEAFNESS, AMINOGLYCOSIDE-INDUCED 1048 2 0.6893385727415046 C1857332 Deafness, Sensorineural, Autosomal-Mitochondrial Type 1048 2 0.7184475353188565 C1138434 Genetic Diseases, X-Linked 1045 2 0.9979955756181758 C1845202 Nephrogenic Syndrome of Inappropriate Antidiuresis 1045 2 0.9979865472685258 C0343386 Clostridium difficile infection 1044 2 0.9744737905593374 C1411966 Clostridium; difficile (disorder) 1044 2 0.9772032142876335 C0041364 Tumor Lysis Syndrome 1043 2 1.0 C2955673 Urate nephropathy 1043 2 1.0 C0393706 Early infantile epileptic encephalopathy with suppression bursts 1042 2 0.15288439742569668 C2677326 Epileptic Encephalopathy, Early Infantile, 4 1042 2 0.18722178804574632 C0159020 Convulsions in the newborn 1034 2 0.3782057960325707 C0270851 Benign neonatal epilepsy 1034 2 0.4698469608646147 C2750027 Growth Hormone Deficiency With Pituitary Anomalies 1032 2 1.0 C2930844 Hypopituitarism and septooptic \'dysplasia\' 1032 2 1.0 C0263428 Burnett Schwartz Berberian syndrome 1028 2 1.0 C0263429 Atrophoderma vermiculatum 1028 2 1.0 C0264353 Bronchomalacia 1026 2 0.19227298951509444 C0948187 Tracheomalacia 1026 2 0.3873775046982396 C0268297 Pseudovaginal Perineoscrotal Hypospadias 1025 2 0.9998757866126227 C3669122 5-Alpha Reductase Deficiency 1025 2 0.9998754321102914 C1856016 HYDROLETHALUS SYNDROME 1 1023 2 0.9575637569876625 C2931104 Hydrolethalus syndrome 1023 2 0.9369279518870125 C0796147 Acrocallosal Syndrome 1021 2 0.4895975253313908 C2931760 Acrocallosal syndrome, Schinzel type 1021 2 0.709195590526204 C1857627 Chorioretinal dystrophy 1018 2 0.2991993329525742 C1859305 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 1018 2 0.3802264064170639 C0042454 Velopharyngeal Insufficiency 1017 2 0.6347389149761102 C4021592 Unilateral primary pulmonary dysgenesis 1017 2 0.5543990106061871 C0036508 Seborrheic dermatitis 1015 2 0.9999999999999984 C3806554 Dysseborrheic dermatitis 1015 2 0.9999999999999984 C0012236 DiGeorge Syndrome 1014 2 0.6871208872143547 C0220704 Shprintzen syndrome 1014 2 0.6519669677491577 C1970253 Phosphoserine Aminotransferase Deficiency 1009 2 1.0 C4015019 NEU-LAXOVA SYNDROME 2 1009 2 1.0 C1859709 Kuskokwim disease 1007 2 1.0 C3151218 OSTEOGENESIS IMPERFECTA, TYPE XI 1007 2 1.0 C0012754 Distemper 1005 2 1.0 C3150807 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 1005 2 1.0 C0263449 Perioral Dermatitis 1004 2 0.918465657485471 C3714948 PACHYONYCHIA CONGENITA 3 1004 2 0.9199167778120383 C1843815 Newfoundland Rod-Cone Dystrophy 1001 2 1.0 C1843816 Bothnia Retinal Dystrophy 1001 2 1.0 C0311338 Fundus Albipunctatus 1000 2 0.9505547627879886 C1405854 Retinitis punctata albescens (disorder) 1000 2 0.9385325537583171 C1275808 Congenital central hypoventilation 998 2 0.9273624353488651 C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 998 2 0.9315372975292895 C1847849 ICHTHYOSIS, LAMELLAR, 5 997 2 1.0 C3539888 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 997 2 1.0 C1855792 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 996 2 0.47641291256428087 C3888093 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 996 2 0.692247960231774 C4014414 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 992 2 0.7739230884715675 C4310683 DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 992 2 0.8463529097363073 C3810283 SCHWANNOMATOSIS 2 991 2 1.0 C4225280 NOONAN SYNDROME 10 991 2 1.0 C3489795 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant 989 2 1.0 C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 989 2 1.0 C2936739 Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 988 2 0.8035347859251691 C3887645 Job Syndrome 988 2 0.8884911700662292 C2750074 Rhabdoid Tumor Predisposition Syndrome 2 987 2 0.7495043829608568 C3553249 COFFIN-SIRIS SYNDROME 4 987 2 0.47691184087043675 C0022610 Kernicterus 980 2 0.9641210995821964 C0559506 Neonatal unconjugated hyperbilirubinemia 980 2 0.9629535304817508 C0268199 Familial apolipoprotein C-II deficiency 979 2 0.8627265902538743 C1720779 Apolipoprotein C-II Deficiency (disorder) 979 2 0.8247343637361627 C0221252 Eruptive xanthoma 976 2 0.427639577192762 C0339477 Lipidemia retinalis 976 2 0.47861773183582307 C0398568 Blood group deletion syndrome 973 2 0.9820945760326656 C3151853 MCLEOD SYNDROME WITH CHRONIC GRANULOMATOUS DISEASE 973 2 0.9819746152502863 C0017605 Angle Closure Glaucoma 970 2 0.7049276108717428 C0017606 Primary angle-closure glaucoma 970 2 0.6557167140677719 C1834692 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA 966 2 1.0 C1837552 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 966 2 1.0 C3554428 OSTEOGENESIS IMPERFECTA, TYPE XIV 964 2 0.654748724664011 C3808844 OSTEOGENESIS IMPERFECTA, TYPE XV 964 2 0.6333018672635082 C1847640 KUFOR-RAKEB SYNDROME 962 2 1.0 C4310662 SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 962 2 1.0 C0863106 Afebrile seizure 957 2 0.3731672679933728 C1848137 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 957 2 0.5520448169819069 C0339652 Vertical gaze palsy 955 2 0.9999999999999996 C1843369 Vertical supranuclear gaze palsy 955 2 0.9999999999999996 C1850363 Niemann-Pick Disease, Nova Scotian Type 954 2 1.0 C2231324 Brucellosis, Pulmonary 954 2 1.0 C0268247 Niemann-Pick Disease, Type D 953 2 0.9418216662221809 C3179455 Niemann-Pick Disease, Type C1 953 2 0.9006562328123827 C0156344 Endometriosis of ovary 946 2 0.4491920550752994 C3809250 ESTROGEN RESISTANCE 946 2 0.6067590309594577 C1855995 L-2-HYDROXYGLUTARIC ACIDURIA 943 2 0.9931416788250078 C3888081 L-2-hydroxyglutaric acidemia 943 2 0.993142425952035 C1845050 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 939 2 0.9959023420551193 C2936859 N syndrome 939 2 0.9958996947077335 C0796275 Brunner Syndrome 935 2 1.0 C1285261 Fetal Nutrition Disorders 935 2 1.0 C0001733 Afibrinogenemia 933 2 0.6554836128881669 C4316812 Fibrinogen Deficiency 933 2 0.6957762381368489 C2608083 Cholestasis, benign recurrent intrahepatic 2 932 2 0.9994309680168438 C3489789 Cholestasis, Progressive Familial Intrahepatic, 2 932 2 0.9994311095138338 C3549845 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 931 2 1.0 C4025019 Intrahepatic cholestasis with episodic jaundice 931 2 1.0 C0745744 End Stage Liver Disease 928 2 0.9250287157626629 C2936476 Chronic Liver Failure 928 2 0.9279305560035096 C3275685 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 2 927 2 1.0 C3275686 CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 927 2 1.0 C0027873 Neuromyelitis Optica 925 2 0.40583102635757823 C0270726 Alexander Disease 925 2 0.36837119089455733 C1970431 PITT-HOPKINS SYNDROME 922 2 0.8575944635646416 C2750451 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 922 2 0.8738533871217715 C0014457 Eosinophilia 919 2 0.6902542488152188 C0014458 Eosinophilia, Tropical 919 2 0.6779891694267985 C0796063 microcephaly-digital anomalies syndrome 912 2 0.7927535663257183 C1847572 SECKEL SYNDROME 2 912 2 0.6299330988745063 C1842109 Microcephaly, Primary Autosomal Recessive, 6 911 2 0.8011599094847872 C3888212 SECKEL SYNDROME 4 911 2 0.4686864890208793 C3553582 SECKEL SYNDROME 6 910 2 0.8360149084189106 C3891452 SECKEL SYNDROME 8 910 2 0.8086943833531022 C0007930 Chagas Cardiomyopathy 909 2 0.7229817457473199 C0220991 Rotor Syndrome 909 2 0.712365420338146 C0265224 Freeman-Sheldon syndrome 902 2 0.6858280350952977 C1867440 Multiple Pterygium Syndrome, Autosomal Dominant 902 2 0.6794168149742534 C1280798 Von Willebrand disease, platelet type 901 2 0.9773845974189364 C3277076 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT 901 2 0.9772185373047375 C1851413 EXOSTOSES, MULTIPLE, TYPE II 898 2 1.0 C4225248 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 898 2 1.0 C0796221 MENTAL RETARDATION, X-LINKED 15 890 2 0.9946567719011925 C3887959 MENTAL RETARDATION, X-LINKED 49 890 2 0.9952526709315459 C1835928 CARDIOMYOPATHY, DILATED, 1P 889 2 0.9937171881860674 C3151265 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 889 2 0.9938162969982599 C0920646 Ischemia of kidney 888 2 0.23747759747484204 C0920715 Myocardial hypoxia 888 2 0.18202164255493047 C0031030 Periapical Periodontitis 887 2 0.40992645799122546 C0524686 Periodontitis, Acute Nonsuppurative 887 2 0.2635987595030968 C3150344 HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 884 2 0.5966922944141666 C3502110 Homocystinuria, Pyridoxine-Responsive 884 2 0.447838774161875 C0019880 Homocystinuria 883 2 0.6494404746497008 C0751202 Cystathionine beta-Synthase Deficiency Disease 883 2 0.22116598769748863 C1850383 Neuropathy, Painful 879 2 0.6416883174742127 C3280976 Thrombophilia due to Thrombomodulin Defect 879 2 0.6083443841351104 C1836199 DEAFNESS, AUTOSOMAL RECESSIVE 48 877 2 1.0 C3553944 USHER SYNDROME, TYPE IJ 877 2 1.0 C1854664 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 876 2 1.0 C2678471 Lethal Arthrogryposis With Anterior Horn Cell Disease 876 2 1.0 C1859194 GRISCELLI SYNDROME, TYPE 1 872 2 1.0 C1860157 Elejalde Disease 872 2 1.0 C1833219 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 870 2 0.6973044473347568 C4049342 Foot osteomyelitis 870 2 0.693176807610238 C0405578 Gigantism and acromegaly 867 2 1.0 C4521132 ACROMEGALY DUE TO PITUITARY ADENOMA 1 867 2 1.0 C2676439 USHER SYNDROME, TYPE IIB, FORMERLY 866 2 0.9999999999999983 C3148929 USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC 866 2 0.9999999999999983 C1850406 NAVAJO NEUROHEPATOPATHY 862 2 1.0 C1850407 Navajo Familial Neurogenic Arthropathy 862 2 1.0 C1832475 Deafness, Autosomal Dominant 11 860 2 1.0 C1838701 DEAFNESS, AUTOSOMAL RECESSIVE 2 860 2 1.0 C0271097 Usher Syndrome 859 2 0.8166753580483829 C2931205 Usher syndrome, type 1A 859 2 0.7443200537720106 C0040127 Thyroid Crisis 856 2 0.5493164845774884 C1832394 Deafness, Autosomal Recessive 12 856 2 0.6675663792591836 C0271583 ACTH Deficiency, Isolated 855 2 0.937114672151115 C0342388 Adrenocorticotropic hormone (ACTH) deficiency (disorder) 855 2 0.9177359308085921 C4023211 Adrenocorticotropin deficient adrenal insufficiency 854 2 0.32252306691722366 C4024716 Secondary growth hormone deficiency 854 2 0.34164078649987384 C4014425 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 853 2 1.0 C4016748 CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC 853 2 1.0 C3539003 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 849 2 0.7320508075688765 C3809470 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 849 2 0.8472422208337105 C0020481 Hyperlipoproteinemia Type V 848 2 0.6841980763631633 C3489395 Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial 848 2 0.6509671675393711 C2751308 CONE DYSTROPHY 4 (disorder) 847 2 1.0 C2751309 Achromatopsia 5 847 2 1.0 C2680446 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE 846 2 1.0 C3280371 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 846 2 1.0 C0751914 Adult Pelizaeus-Merzbacher Disease 841 2 0.9999999999999853 C0751918 Cockayne-Pelizaeus-Merzbacher Disease 841 2 0.9999999999999853 C1868512 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 840 2 1.0 C3164344 Adult onset autosomal dominant leukodystrophy 840 2 1.0 C1865869 CONE DYSTROPHY 3 (disorder) 838 2 1.0 C1867326 RETINAL CONE DYSTROPHY 1 838 2 1.0 C1848029 Ehlers-Danlos syndrome caused by tenascin-X deficiency 837 2 1.0 C4014831 VESICOURETERAL REFLUX 8 837 2 1.0 C2751831 Myopathy, Myofibrillar, Bag3-Related 834 2 1.0 C3151293 CARDIOMYOPATHY, DILATED, 1HH 834 2 1.0 C0023308 Lens Diseases 831 2 0.3716897644346344 C1854065 LATE-ONSET RETINAL DEGENERATION (disorder) 831 2 0.618030620635236 C1842577 JOUBERT SYNDROME 2 824 2 1.0 C1864148 MECKEL SYNDROME, TYPE 2 824 2 1.0 C0409477 Ankylosis of the elbow joint 822 2 0.1828295540309277 C2930865 Ramer Ladda syndrome 822 2 0.15153218941705743 C0677659 Gastro-esophageal reflux disease with esophagitis 819 2 0.5747628024909952 C1836023 Drug Metabolism, Poor, CYP2C19-Related 819 2 0.6132308741075797 C1854442 SPLIT-HAND/FOOT MALFORMATION 4 817 2 0.7104361443756277 C1863204 ADULT SYNDROME 817 2 0.7450222251846209 C0796182 Acromelic frontonasal dysplasia 813 2 1.0 C1863616 ACROMELIC FRONTONASAL DYSOSTOSIS 813 2 1.0 C0752127 Spinal Cord Vascular Diseases 812 2 0.9999999999999994 C0752130 Spinal Cord Ischemia 812 2 0.9999999999999994 C1720772 Hypoprebetalipoproteinemia 807 2 1.0 C1835362 Lp(A) Deficiency, Congenital 807 2 1.0 C0270853 Juvenile Myoclonic Epilepsy 805 2 0.8183164185537508 C0393676 Panayiotopoulos Syndrome 805 2 0.773773876807001 C3544092 Urgency frequency syndrome 804 2 0.9983310779247285 C4020898 Overactive bladder syndrome 804 2 0.99833219605315 C0268849 Overactive Detrusor 803 2 0.6053456464057408 C0878773 Overactive Bladder 803 2 0.5045045427376117 C0265257 Genee-Wiedemann syndrome 802 2 1.0 C0812435 Chromosome 11p deletion syndrome 802 2 1.0 C0206526 Tuberculosis, Multidrug-Resistant 801 2 0.5857143019959369 C2959467 Tuberculous pleural effusion 801 2 0.6220428423581812 C1864690 Microphthalmia, Syndromic 5 797 2 1.0 C3151440 PITUITARY HORMONE DEFICIENCY, COMBINED, 6 797 2 1.0 C3150819 RETINITIS PIGMENTOSA 56 796 2 0.839130207283061 C4015343 MACULAR DYSTROPHY, VITELLIFORM, 5 796 2 0.7058832043421653 C1848634 USHER SYNDROME, TYPE IIA 790 2 0.8962542649362767 C3151138 RETINITIS PIGMENTOSA 39 (disorder) 790 2 0.9034325027409735 C0393738 Chronic tension-type headache 787 2 1.0 C0522254 Analgesic Overuse Headache 787 2 1.0 C3554047 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 786 2 1.0 C4015671 LONG QT SYNDROME 14 786 2 1.0 C0030326 Panniculitis 781 2 0.22850361610122386 C1850568 Nakajo syndrome 781 2 0.6219550994250064 C0037052 Sick Sinus Syndrome 780 2 0.6710508779708946 C0428908 Sinus Node Dysfunction (disorder) 780 2 0.66059401202679 C2677294 Atrial Fibrillation, Familial, 6 779 2 1.0 C3810401 ATRIAL STANDSTILL 2 779 2 1.0 C0340489 Lone atrial fibrillation 775 2 0.20797013810246612 C1838539 CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE 775 2 0.2109656423054702 C0030443 Familial Periodic Paralysis 770 2 0.32663175332840694 C1279412 periodic paralysis (finding) 770 2 0.43571074424463696 C1867904 LONG QT SYNDROME 5 765 2 1.0 C2676723 JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 765 2 1.0 C0023976 Long QT Syndrome 762 2 0.6283599845520125 C0035828 Romano-Ward Syndrome 762 2 0.3691433654662393 C0282492 Sneddon Syndrome 758 2 0.9992678151023836 C3887654 POLYARTERITIS NODOSA, CHILDHOOD-ONSET 758 2 0.9992679579442352 C0220754 Biotinidase Deficiency 750 2 1.0 C1854698 Multiple Carboxylase Deficiency, Juvenile-Onset 750 2 1.0 C0014852 Esophageal Diseases 748 2 0.6611022496549224 C0085648 Synovial Cyst 748 2 0.5884721565011979 C0010398 Cruveilhier-Baumgarten Syndrome 747 2 0.25302478234126086 C0020541 Hypertension, Portal 747 2 0.41561165720820364 C2931276 Spastic paraplegia 17 744 2 0.998533412085471 C4014700 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 744 2 0.9985938757440144 C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 743 2 0.993126555306699 C1862941 Amyotrophic Lateral Sclerosis, Sporadic 743 2 0.9934310363955956 C0020473 Hyperlipidemia 741 2 0.416870097433047 C0020476 Hyperlipoproteinemias 741 2 0.5276146831771171 C0018784 Sensorineural Hearing Loss (disorder) 735 2 0.31871630779912136 C1691779 Sensory hearing loss 735 2 0.21207178795931078 C0205700 Asymmetric Septal Hypertrophy 732 2 0.7739861564546344 C3495498 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 732 2 0.792887315284524 C1450052 Tibial Muscular Dystrophy 730 2 0.8645868482938878 C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE 730 2 0.7097811541705715 C1837342 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 729 2 0.9999999999997151 C1858763 Cardiomyopathy, Dilated, 1g 729 2 0.9999999999997151 C1861065 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 728 2 0.9957489481406627 C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy 728 2 0.9951353981554215 C0751595 Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease 723 2 0.9999999999999932 C0751596 Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal 723 2 0.9999999999999932 C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease 722 2 0.5965250327374089 C0751597 Ataxia with Lactic Acidosis, Type I 722 2 0.2569730455016727 C0034350 Pyruvate Metabolism, Inborn Errors 721 2 1.0 C1839413 Pyruvate Dehydrogenase E1 Alpha Deficiency 721 2 1.0 C0410445 Osteomalacia secondary to drug 712 2 0.4864035305026815 C1566050 Icterus Gravis Neonatorum 712 2 0.6237574175032533 C2676786 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 711 2 1.0 C3150652 FANCONI RENOTUBULAR SYNDROME 2 711 2 1.0 C4310232 Hypercalcemia, Infantile, 1 710 2 0.7669843524860251 C4310473 Hypercalcemia, infantile, 2 710 2 0.20583087736403713 C0020437 Hypercalcemia 709 2 0.8021882991347734 C0026141 Milk-Alkali Syndrome 709 2 0.8043957909327021 C0019569 Hirschsprung Disease 707 2 0.8260524482411316 C3661523 Congenital Intestinal Aganglionosis 707 2 0.8494799989885411 C0015923 Fetal Alcohol Syndrome 705 2 0.603425035837761 C2985290 Fetal Alcohol Spectrum Disorders 705 2 0.6233701513574809 C0678189 Hyperlipidemia, group A 704 2 0.989297627830552 C1863512 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 704 2 0.9884476400487494 C0268407 Senile cardiac amyloidosis 702 2 0.9995482658503214 C0936273 Familial Amyloid Polyneuropathy, Type IV 702 2 0.9995656180385147 C0006277 Bronchitis 700 2 0.9938496747180657 C0149514 Acute bronchitis 700 2 0.9938503080083153 C4014722 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET 699 2 1.0 C4040879 STING-associated vasculopathy with onset in infancy 699 2 1.0 C1836681 Erythrokeratoderma, Reticular 698 2 0.7807312802970292 C3665704 Congenital reticular ichthyosiform erythroderma 698 2 0.6975931161326213 C1843463 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 697 2 0.8789243036263379 C1862005 Epidermolytic Hyperkeratosis, Late-Onset 697 2 0.8995467019257061 C1840427 PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS (disorder) 694 2 0.4702164723586234 C3489771 Keratosis Palmaris et Plantaris Familiaris 694 2 0.3642005403586711 C0596992 myelinopathy 693 2 0.7218266850127371 C1843247 Charcot-Marie-Tooth disease, Type 1D (disorder) 693 2 0.6594649676288741 C0393818 Congenital hypomyelinating neuropathy 692 2 0.9670142111134178 C3551756 NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 692 2 0.9615248209387778 C0011195 Dejerine-Sottas Disease (disorder) 688 2 0.7899848850029398 C0027888 Hereditary Motor and Sensory Neuropathies 688 2 0.6446579330030285 C0265970 Porokeratosis, Disseminated Superficial Actinic 686 2 0.15045825923412956 C3553549 POROKERATOSIS 7, MULTIPLE TYPES 686 2 0.5835054583215198 C0011303 Demyelinating Diseases 685 2 0.7752290377018304 C2350037 Clinically Isolated Syndrome, CNS Demyelinating 685 2 0.7423947339652351 C0521736 Lower eyelid ectropion 676 2 0.3445350331475028 C1861536 Blepharo-cheilo-dontic syndrome 676 2 0.3297073703251341 C2362324 Pediatric Obesity 673 2 0.9455813136872172 C4317171 Adolescent Obesity 673 2 0.940789261126465 C0038826 Superinfection 672 2 0.4660447112480546 C0375021 Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site 672 2 0.5591932666714367 C0024266 Lymphocytic Choriomeningitis 671 2 0.7779065358730058 C0153014 Non-arthropod borne lymphocytic choriomeningitis 671 2 0.8001508084484671 C0038362 Stomatitis 664 2 0.8475133864211715 C1568868 Oral Mucositis 664 2 0.8350957420433578 C0271826 Iodide transport defect 663 2 0.6882466465469741 C1848805 Thyroid Dyshormonogenesis 1 663 2 0.5239308796356907 C0151516 Thyroid Hypoplasia 661 2 0.43880412802823754 C4020805 Athyroidal hypothyroidism 661 2 0.5241414839373812 C0268193 NADH cytochrome B5 reductase deficiency 659 2 0.4036750004034327 C3492932 Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency 659 2 0.7403506104565915 C0015503 Factor VII Deficiency 655 2 0.9810026565225162 C0272320 Hereditary factor VII deficiency disease 655 2 0.9809362143502084 C0034734 Raynaud Disease 654 2 0.9999999999999978 C0034735 Raynaud Phenomenon 654 2 0.9999999999999978 C0024523 Malabsorption Syndrome 652 2 0.9321836438002457 C0342705 Folate Malabsorption, Hereditary 652 2 0.9330471211540479 C1835813 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 648 2 0.9085031669748878 C1848534 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 648 2 0.8833558099301588 C0008533 Hemophilia B 642 2 0.966245300359561 C2749016 Thrombophilia, X-Linked, Due To Factor Ix Defect 642 2 0.9671865613145254 C3494186 Autosomal Hemophilia A 641 2 0.6476075623883875 C3494187 Factor VIII Deficiency 641 2 0.5721504921231322 C0155320 Blindness, Cortical 638 2 0.9780795817751521 C3810365 Central visual impairment 638 2 0.9776886371551199 C0018979 Hemianopsia 636 2 0.4974179369584479 C0162671 MELAS Syndrome 636 2 0.38405152926486325 C1842930 Neutropenia, Nonimmune Chronic Idiopathic, Adult 634 2 1.0 C2751288 Neutropenia, Severe Congenital, Autosomal Dominant 2 634 2 1.0 C0341305 Autoimmune enteropathy 633 2 0.8678886865396789 C0342288 Insulin-dependent diabetes mellitus secretory diarrhea syndrome 633 2 0.8588312925940522 C0043121 Wernicke Encephalopathy 632 2 0.760442302762328 C4310751 SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS 632 2 0.8423192739130502 C0154841 Central retinal vein occlusion 630 2 1.0 C3279564 Osteogenesis Imperfecta, Type VI 630 2 1.0 C0010043 Corneal Ulcer 629 2 0.17419135153269433 C0155119 Recurrent erosion of cornea 629 2 0.2650551126554656 C0393590 Fahr\'s syndrome (disorder) 627 2 0.12562909004224834 C0854107 Subcutaneous hemorrhage 627 2 0.29954540529380225 C0085110 Severe Combined Immunodeficiency 624 2 0.6532822773707201 C2700553 Omenn Syndrome 624 2 0.4137016661042271 C0019187 Hepatitis, Alcoholic 623 2 0.9773060630703634 C0524610 Chronic Alcoholic Hepatitis 623 2 0.9803385823147193 C0155241 Lacrimal mucocele 621 2 0.7862345793723479 C1867060 Lacrimal Puncta, Absence of 621 2 0.6146774849779518 C0015302 External exotoses 618 2 0.6444798448047331 C0432282 Dysplasia epiphysealis hemimelica 618 2 0.7963893485560049 C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB 613 2 0.9785753593323828 C2932715 Pseudohypoparathyroidism Type 1B 613 2 0.9768313813592489 C0154832 Exudative retinopathy 611 2 0.2317766540318801 C2677299 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 611 2 0.4874832298357602 C1845052 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 610 2 0.9483959080229775 C1845053 Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 610 2 0.9459956737693291 C0730290 Cone dystrophy 609 2 0.8513923630406093 C4085590 Cone-Rod Dystrophies 609 2 0.8516181098555007 C1956125 Alagille Syndrome 1 608 2 0.9221314768146339 C2930797 Hepatic ductular hypoplasia 608 2 0.8624084409169754 C0917715 Hajdu-Cheney Syndrome 607 2 0.9987317433153072 C2930971 Acroosteolysis dominant type 607 2 0.9987308376921606 C0020496 Hyperostosis of skull 603 2 0.7772523754463782 C0265301 Sclerosteosis 603 2 0.6388611988177235 C0410539 Craniodiaphyseal dysplasia 602 2 0.9064239499789305 C2675746 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 602 2 0.8761549604031539 C0020757 Ichthyoses 601 2 0.3674343801105009 C0043345 Xeroderma 601 2 0.1663235688718565 C2930996 Muscular dystrophy, tardive Emery-Dreifuss type, with contractures 595 2 1.0 C4023180 Type 1 muscle fiber atrophy 595 2 1.0 C3890205 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative 591 2 0.999653788395011 C3898105 Oligoarticular Juvenile Idiopathic Arthritis 591 2 0.9996546390765393 C1851101 Laurin-Sandrow Syndrome, Segmental 587 2 1.0 C1861099 Absence of tibia with polydactyly 587 2 1.0 C1861355 Syndactyly, Type IV 586 2 0.9618757631509878 C1868114 POLYDACTYLY, PREAXIAL II (disorder) 586 2 0.9420659032916663 C0265345 Lymphedema distichiasis syndrome 583 2 1.0 C2675066 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 583 2 1.0 C4225315 RETINITIS PIGMENTOSA 72 581 2 1.0 C4225316 EXUDATIVE VITREORETINOPATHY 6 581 2 1.0 C1835865 Cone-Rod Dystrophy 11 580 2 1.0 C3151060 Macular Degeneration, Age-Related, 6 580 2 1.0 C0271093 Stargardt\'s disease 574 2 0.974571387466299 C1855465 STARGARDT DISEASE 1 (disorder) 574 2 0.9748124424696775 C4021559 Retinitis pigmentosa inversa 573 2 0.7487472823872741 C4282180 Juvenile macular degeneration 573 2 0.4479718180457302 C0271388 Pendular Nystagmus 570 2 0.5577593300435204 C4020734 Nystagmus, continuous pendular 570 2 0.6720572290839278 C0155015 Color Blindness, Red 568 2 0.29384158278046085 C3887980 COLORBLINDNESS, PARTIAL, PROTAN SERIES 568 2 0.5912784469348508 C0152200 Achromatopsia 567 2 0.4973852997202461 C0858618 Dyschromatopsia 567 2 0.6626440512016597 C1845026 Neural tube defects X-linked 565 2 0.9999999999999996 C1845027 Spina Bifida, X-Linked 565 2 0.9999999999999996 C0272340 High molecular weight kininogen deficiency 560 2 1.0 C1856719 Kininogen Deficiency, Total 560 2 1.0 C0019243 Angioedemas, Hereditary 559 2 0.4114754846384161 C2931758 Acquired angioedema 559 2 0.2129483329003646 C3151078 Complement Component C1s Deficiency 556 2 1.0 C4310681 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 556 2 1.0 C1739108 Latent Autoimmune Diabetes in Adults 555 2 0.464725720769028 C1960272 Latent autoimmune diabetes mellitus in adult 555 2 0.5755643200635913 C1832392 DIABETES MELLITUS, INSULIN-DEPENDENT, 12 554 2 1.0 C4015214 CTLA4 Haploinsufficiency 554 2 1.0 C1291299 Deficiency of iodide peroxidase (disorder) 553 2 1.0 C3887639 Autoimmune gastritis 553 2 1.0 C1832390 Van Maldergem Wetzburger Verloes syndrome 550 2 0.533583257160259 C1843003 MITRAL VALVE PROLAPSE, MYXOMATOUS 2 550 2 0.7745867661635375 C3809875 VAN MALDERGEM SYNDROME 2 549 2 1.0 C4014939 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 549 2 1.0 C3150898 CARDIOMYOPATHY, DILATED, 1GG 546 2 1.0 C3279992 PARAGANGLIOMAS 5 546 2 1.0 C0270786 Binswanger Disease 545 2 1.0 C0393561 Subcortical Vascular Dementia 545 2 1.0 C0393560 Vascular Dementia, Acute Onset 544 2 1.0 C0600359 Arteriosclerotic Dementia 544 2 1.0 C0152132 Hypertensive Retinopathy 539 2 0.4981463087898297 C4476521 Renal glomerular fibrosis 539 2 0.5796800734151006 C0003496 Aortic Rupture 536 2 0.7455462418228552 C0741160 Aortic Aneurysm, Ruptured 536 2 0.715779107328438 C0020550 Hyperthyroidism 533 2 0.5310963689084658 C3714618 Primary Hyperthyroidism 533 2 0.49638561391152536 C0022593 Keratosis 532 2 0.9765912444509646 C0022594 Keratosis Blennorrhagica 532 2 0.9810459660205855 C0085409 Polyendocrinopathies, Autoimmune 527 2 0.6137385144910688 C0085860 Autoimmune Syndrome Type II, Polyglandular 527 2 0.5623004718907777 C0085859 Polyglandular Type I Autoimmune Syndrome 525 2 0.6693597808044089 C3494489 Autoimmune polyendocrinopathy syndrome, type 1 525 2 0.10353544396719432 C0019342 Genital Herpes 522 2 0.3222887820463773 C0033839 Pseudorabies 522 2 0.30902213501100945 C0877055 Acute Generalized Exanthematous Pustulosis 521 2 1.0 C3541994 Drug Hypersensitivity Syndrome 521 2 1.0 C3553330 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 519 2 0.9233168059257613 C4015095 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 519 2 0.9339192086255407 C3808964 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 517 2 0.9577822444510047 C4015184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 517 2 0.9623600204742797 C1837229 Muscular Dystrophy, Congenital, Type 1D 516 2 0.804287579275292 C3150414 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 516 2 0.7046555751397945 C0033626 Protein Deficiency 510 2 0.6459081826906153 C1456865 Ureteral Calculi 510 2 0.6832780467155303 C0039483 Giant Cell Arteritis 509 2 0.5450863817344763 C1956391 Temporal Arteritis 509 2 0.5560695075181158 C3553720 CFHR5 DEFICIENCY 508 2 0.6198948742524636 C4055342 C3 Glomerulonephritis 508 2 0.24228411941257433 C0017563 Gingival Diseases 506 2 0.2624072750765357 C0031090 Periodontal Diseases 506 2 0.38106297384817656 C3150215 CHROMOSOME 6q24-q25 DELETION SYNDROME 504 2 1.0 C3281201 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 504 2 1.0 C1867774 Sacral Agenesis Syndrome 502 2 0.5658262487936977 C2609260 Caudal dysplasia syndrome 502 2 0.4903697787021711 C0236124 Gastrointestinal obstruction 501 2 1.0 C1867775 Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation 501 2 1.0 C2674127 LOEYS-DIETZ SYNDROME, TYPE 2A (disorder) 497 2 1.0 C2931764 Furlong syndrome 497 2 1.0 C2677903 Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia 492 2 1.0 C3275356 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT NYSTAGMUS 492 2 1.0 C0796094 Blepharophimosis syndrome Ohdo type 491 2 0.9807859742646158 C3698541 Ohdo syndrome, Maat-Kievit-Brunner type 491 2 0.9805706382908068 C0271642 Fibrocalculous pancreatic diabetes 483 2 0.8024504376285998 C1842402 TROPICAL CALCIFIC PANCREATITIS 483 2 0.787784214651229 C0036130 Salpingitis 480 2 1.0 C0340238 Infectious disorder of bronchus 480 2 1.0 C3279947 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9 478 2 0.8876140883947304 C3279974 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 478 2 0.9213497530746388 C0035243 Respiratory Tract Infections 474 2 0.7581371298253727 C0041912 Upper Respiratory Infections 474 2 0.7275600457296084 C1842026 GLAUCOMA 1, OPEN ANGLE, E 472 2 1.0 C3150692 AMYOTROPHIC LATERAL SCLEROSIS 12 472 2 1.0 C0339284 Polymorphous corneal dystrophy 468 2 0.22261932122046307 C0423325 Ectropion uveae 468 2 0.2931796476185303 C0221043 Liddle Syndrome 466 2 0.6120890604764739 C3854315 Pseudoprimary hyperaldosteronism 466 2 0.6278966923236721 C1851801 EDS VIIB 464 2 0.7219196292441319 C1857034 Ehlers-Danlos syndrome, cardiac valvular form 464 2 0.7628327698463164 C0023931 Lobstein Disease 463 2 0.3379900078098522 C0268358 Osteogenesis imperfecta, dominant perinatal lethal 463 2 0.46485625866266 C0268345 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 462 2 0.7126269007718731 C0268360 Osteogenesis imperfecta, recessive perinatal lethal 462 2 0.6800758704992528 C0010495 Cutis Laxa 460 2 0.4854178559153732 C2930812 Generalized elastolysis 460 2 0.6973716491077706 C1394691 Bowel diverticula 456 2 0.9999999999999993 C1395674 Bowel diverticulosis 456 2 0.9999999999999993 C0003499 Supravalvular aortic stenosis 455 2 0.6775986019638545 C1305147 Congenital supravalvular aortic stenosis 455 2 0.6875930283334726 C0268350 Cutis Laxa, Autosomal Dominant 454 2 0.40724458561395965 C3276539 CUTIS LAXA, AUTOSOMAL DOMINANT 1 454 2 0.38907494172645524 C1851286 Ectopia lentis isolated 451 2 0.974439783650577 C2746069 Familial ectopia lentis 451 2 0.9799988852135615 C0265313 Weill-Marchesani syndrome 449 2 0.6064551660038773 C1869115 Weill-Marchesani Syndrome, Autosomal Dominant 449 2 0.8210254597515128 C1562061 Microspherophakia 448 2 0.6546224630933732 C1869114 Weill-Marchesani Syndrome, Autosomal Recessive 448 2 0.6413218716140243 C1856441 Late onset congenital glaucoma 446 2 1.0 C4310623 ANTERIOR SEGMENT DYSGENESIS 6 446 2 1.0 C1533041 Primary congenital glaucoma 443 2 0.8045052695033835 C1832977 GLAUCOMA 3, PRIMARY INFANTILE, B 443 2 0.8418411033992419 C1853800 Familial Wilms tumor 2 441 2 0.5767294092107268 C1856184 HEMIHYPERPLASIA, ISOLATED 441 2 0.08434478187202335 C0039585 Androgen-Insensitivity Syndrome 440 2 0.4949219378090224 C0936016 Testicular Feminization 440 2 0.7434894162210897 C0023518 Leukocytosis 437 2 0.7030003942887757 C0151857 Pleocytosis 437 2 0.6589072901708005 C0268393 Familial Cerebral Amyloid Angiopathy 434 2 0.9986051885149786 C1956349 Cerebral Amyloid Angiopathy, Genetic 434 2 0.9986947181822506 C0162316 Iron deficiency anemia 431 2 0.2544120357398208 C0240066 Iron deficiency 431 2 0.1532600255712564 C0162566 Porphyria Cutanea Tarda 430 2 0.4981586294438172 C1276127 Sporadic porphyria cutanea tarda 430 2 0.5563569852247574 C0018995 Hemochromatosis 427 2 0.8303334540002045 C0392514 Hereditary hemochromatosis 427 2 0.7176119788314419 C0017086 Gangrene 426 2 0.5899649644787076 C0039263 Takayasu Arteritis 426 2 0.5391040223354093 C1847200 ALZHEIMER DISEASE 4 419 2 0.792877776109649 C3150958 Cardiomyopathy, Dilated, 1V 419 2 0.8644843533259763 C0004245 Atrioventricular Block 418 2 0.11107191427404219 C1841659 Atrioventricular nodal disease 418 2 0.44628644725636907 C1969115 GALLBLADDER DISEASE 4 417 2 0.5070206533678672 C2749759 Macrothrombocytopenia-Stomatocytosis, Mediterranean 417 2 0.31247566213919653 C1848486 Premature arteriosclerosis 415 2 0.9999999999999967 C4280503 Premature hardening of arteries 415 2 0.9999999999999967 C0342881 Familial hypercholesterolemia - homozygous 414 2 0.9950686441998615 C4024924 Cerebral artery atherosclerosis 414 2 0.9950474936329504 C2931355 Spastic paraplegia 3, autosomal dominant 413 2 0.770761166304369 C3150972 NEUROPATHY, HEREDITARY SENSORY, TYPE ID 413 2 0.586520528858976 C0342683 ALBINISM, OCULOCUTANEOUS, TYPE III 412 2 0.7066369256887443 C2931599 Oculocutaneous albinism type 3 412 2 0.8361578133452868 C1853925 Spondyloocular Syndrome, Autosomal Recessive 410 2 1.0 C4225412 Spondylo-ocular syndrome 410 2 1.0 C0043049 Water Intoxication 408 2 0.22944264170746775 C0854145 Feeding Disorders 408 2 0.6376287887875876 C0015930 Fetal Distress 407 2 0.45256406260740734 C0033575 Prostatic Diseases 407 2 0.27536877547810695 C1846545 Autoimmune Lymphoproliferative Syndrome Type 2B 405 2 0.7568177088053265 C2717884 Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 405 2 0.4919738002637894 C0002897 Anemia, Splenic 403 2 0.5425821165873709 C0020532 Hypersplenism 403 2 0.6543728863656868 C0042170 Uveomeningoencephalitic Syndrome 402 2 0.23259116069363253 C0221262 Poliosis 402 2 0.15104698983732226 C0342680 Klein-Waardenberg\'s syndrome 400 2 1.0 C1852510 Craniofacial deafness hand syndrome 400 2 1.0 C0079661 Klein\'s Syndrome 399 2 0.4695045680263902 C1847800 Waardenburg Syndrome Type 1 399 2 0.36030594134845584 C1845069 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 395 2 0.9791177639715959 C1863198 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 395 2 0.9720885679905467 C0264955 Idiopathic arterial calcification of infancy 392 2 0.8787091073698305 C1859727 Arterial calcification of infancy 392 2 0.7463705437855592 C0342643 Autosomal recessive hypophosphatemic vitamin D refractory rickets 390 2 0.6327289554788011 C4024631 Renal hypophosphatemia 390 2 0.4754203404321968 C0518988 Dental abscess 389 2 1.0 C1282952 Enthesitis 389 2 1.0 C0268548 Hyperargininemia 387 2 0.9367336895013272 C4024698 Diaminoaciduria 387 2 0.9356038318081711 C2973725 Pulmonary arterial hypertension 385 2 0.789848885431986 C3203102 Idiopathic pulmonary arterial hypertension 385 2 0.6660243161199924 C0340543 Familial primary pulmonary hypertension 384 2 0.2731814749495957 C1701939 Familial pulmonary arterial hypertension 384 2 0.6003141436099456 C0340548 Pulmonary capillary hemangiomatosis 382 2 0.8939113086646477 C0340848 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE 382 2 0.8844054930985534 C0034091 Pulmonary Veno-Occlusive Disease (disorder) 381 2 0.9435568322018512 C3887658 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT 381 2 0.9080891088792171 C0432240 Stuve-Wiedemann dysplasia 379 2 1.0 C0796176 STUVE-WIEDEMANN SYNDROME 379 2 1.0 C0013264 Muscular Dystrophy, Duchenne 374 2 0.2419306841899555 C3542021 Duchenne and Becker Muscular Dystrophy 374 2 0.6394036247685849 C0699741 Benign congenital myopathy 373 2 0.9972372709231963 C3668940 Dmd-Associated Dilated Cardiomyopathy 373 2 0.9972120608689411 C0270968 Limb-girdle muscular dystrophy type 2H 371 2 0.997529906649836 C1859569 BARDET-BIEDL SYNDROME 11 371 2 0.9975368843921245 C0521802 Congenital atransferrinemia 370 2 0.9316739660420865 C2827503 HFE-Associated Hereditary Hemochromatosis 370 2 0.9134244775840457 C0271990 delta-Thalassemia 369 2 0.80602502133213 C0271991 delta^0^ Thalassemia 369 2 0.8883038961902984 C1849157 Resistance to Insulin-Like Growth Factor I 362 2 1.0 C1849158 Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 362 2 1.0 C1838259 DIABETES MELLITUS, INSULIN-DEPENDENT, 7 361 2 0.9832565159236114 C1853371 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) 361 2 0.983055907507467 C0342326 Tumor-induced hypoglycemia 359 2 1.0 C4225307 GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES 359 2 1.0 C0014742 Erythema Multiforme 358 2 0.9947243149110956 C3151085 MASP2 Deficiency 358 2 0.9948802121872607 C1847835 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 357 2 0.9199535412388848 C4479278 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 357 2 0.9176241837195498 C1856883 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 356 2 0.7260441109509581 C4317320 Factor V deficiency 356 2 0.4485430979187163 C0393929 Familial infantile myasthenia 352 2 1.0 C0751398 Familial Olivopontocerebellar Atrophy 352 2 1.0 C0263006 Perifolliculitis 343 2 0.3736425611411837 C4023521 Chronic furunculosis 343 2 0.5658899443261209 C1833693 Otodental Dysplasia 341 2 1.0 C1853144 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 341 2 1.0 C1840347 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 340 2 1.0 C3809243 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 340 2 1.0 C0043515 Zollinger-Ellison syndrome 338 2 0.6316264019367824 C0271844 Parathyroid hyperplasia 338 2 0.5993809292643847 C1840394 Parathyroid Adenomatosis, Familial Cystic 336 2 1.0 C1840403 Parathyroid Adenoma, Familial 336 2 1.0 C0342344 Hypoparathyroidism - X-linked 332 2 1.0 C4479229 HYPERPARATHYROIDISM 4 332 2 1.0 C3715128 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 329 2 0.9244236065313127 C4048195 Autosomal dominant hypocalcemia 329 2 0.9376584870455091 C0238111 Lennox-Gastaut syndrome 328 2 0.8375110108708896 C0595948 Atypical absence seizure 328 2 0.7938951754925483 C2677078 Generalized Epilepsy With Febrile Seizures Plus, Type 6 321 2 0.1388245210853384 C2677079 Inflammatory Bowel Disease 19 321 2 0.6789069553318091 C1858673 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 318 2 0.6277796815973725 C2751756 Febrile Convulsions, Familial, 3a 318 2 0.8551897737257043 C0391958 Familial Epilepsies 317 2 1.0 C1864987 Migraine, Familial Hemiplegic, 3 317 2 1.0 C0268347 Ehlers-Danlos Syndrome, Type VIII 315 2 0.7385055764264418 C3150274 COMPLEMENT COMPONENT C1r/C1s DEFICIENCY 315 2 0.8381970974099762 C1832594 Verloes Bourguignon syndrome 314 2 1.0 C2751297 Tooth Agenesis, Selective, 6 314 2 1.0 C1833538 OROFACIAL CLEFT 7 309 2 1.0 C2931488 Zlotogora-Ogur syndrome 309 2 1.0 C0037769 West Syndrome 307 2 0.470177921914013 C3887898 Infantile Spasm 307 2 0.5792649730881743 C0001627 Congenital adrenal hyperplasia 305 2 0.4720462315294918 C0302280 Adrenogenital Syndrome 305 2 0.1714153640069068 C0342546 Premature adrenarche 304 2 1.0 C4020713 Penile melanosis 304 2 1.0 C0003892 Neurogenic arthropathy 302 2 0.4274246459299818 C3806285 Recurrent infections due to aspiration 302 2 0.6188870142506163 C3809882 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII 298 2 0.7749559668602081 C3809899 EPISODIC PAIN SYNDROME, FAMILIAL, 3 298 2 0.8911583170629884 C2751778 Generalized Epilepsy With Febrile Seizures Plus, 7 296 2 0.9789560861885035 C3151229 FEBRILE SEIZURES, FAMILIAL, 3B 296 2 0.9715609139633676 C0014805 Primary Erythermalgia 294 2 1.0 C1833661 PAROXYSMAL EXTREME PAIN DISORDER 294 2 1.0 C0020074 HSAN Type IV 291 2 0.12876059758081335 C0020075 Hereditary Sensory Autonomic Neuropathy, Type 5 291 2 0.27244245820846996 C0008733 Chylothorax 289 2 0.7325683322546428 C1854465 TUBEROUS SCLEROSIS 1 (disorder) 289 2 0.763570757220536 C1860707 TUBEROUS SCLEROSIS 2 (disorder) 288 2 0.7454437789976996 C2750460 Tsc2 Angiomyolipomas, Renal, Modifier Of 288 2 0.7752151359076043 C0020635 Hypopituitarism 282 2 0.5711769604530962 C0242342 Sheehan Syndrome 282 2 0.36585909540837624 C0206115 WAGR Syndrome 279 2 0.8704870501289318 C2931803 Deletion 11p13 279 2 0.9115534156796891 C0151721 Testicular hypogonadism 276 2 0.5825942239919469 C0271578 Female hypogonadism syndrome 276 2 0.5395957806686352 C1845146 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 273 2 1.0 C3150773 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 273 2 1.0 C0751486 Reye-Like Syndrome 266 2 1.0 C1455728 Acute fatty liver of pregnancy 266 2 1.0 C0036651 Senile lentigo 263 2 0.9635667491119488 C1328931 Multiple lentigines 263 2 0.9568552516542852 C1959635 Parvovirus B19 (disease) 258 2 0.9999999999999987 C2062441 Influenza A 258 2 0.9999999999999987 C0034089 Pulmonary Valve Stenosis 257 2 0.6379953895721809 C0410530 Metachondromatosis 257 2 0.5134504142336583 C2674723 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 254 2 0.21217349147789383 C2750732 Noonan Syndrome 6 254 2 0.6037754916013387 C2931732 Familial Paget\'s disease of bone 251 2 0.9105113961730806 C4085251 PAGET DISEASE OF BONE 2, EARLY-ONSET 251 2 0.9453216217988855 C1096902 Infantile Sialic Acid Storage Disease 248 2 0.9738967425002694 C1096903 Sialic Acid Storage Disease, Finnish Type (disorder) 248 2 0.9779830710329549 C1833373 Inclusion Body Myopathy, Autosomal Recessive 247 2 0.7660849717251884 C1853926 NONAKA MYOPATHY 247 2 0.8787835815789619 C1867610 Macrocephaly mesodermal hamartoma spectrum 244 2 1.0 C3554519 COWDEN SYNDROME 6 244 2 1.0 C1858593 Limb-girdle muscular dystrophy, type 2E 242 2 1.0 C2930900 Beta-sarcoglycanopathy 242 2 1.0 C1835819 PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 239 2 1.0 C4014479 CULLER-JONES SYNDROME 239 2 1.0 C0004135 Ataxia Telangiectasia 236 2 0.8936160611457442 C1876175 Ataxia-Telangiectasia Variant 236 2 0.897806331270208 C1112530 Leukoplakia of oral mucosa, incl tongue 235 2 0.37552475762219273 C1136084 Plasma cell dyscrasia 235 2 0.5666291094122263 C0035436 Rheumatic Fever 234 2 0.5235406747673592 C0264490 Acute respiratory failure 234 2 0.26144710725229064 C0376532 Epilepsy, Rolandic 231 2 0.9863768331648847 C2363129 Benign Rolandic Epilepsy 231 2 0.9835612799265155 C1264031 Alloimmune thrombocytopenia 229 2 1.0 C3280114 Glycoprotein IA Deficiency 229 2 1.0 C0035328 Retinal Vein Occlusion 228 2 0.48438346169904567 C1527411 Thrombosis of retinal vein 228 2 0.43261381398453713 C3463916 Complement Factor I (C3 inactivator) deficiency 227 2 0.9993580970880713 C3809523 MACULAR DEGENERATION, AGE-RELATED, 13 227 2 0.999362695947115 C1449646 Primary Peritonitis 225 2 1.0 C1449647 Secondary Peritonitis 225 2 1.0 C1404521 Limb-girdle myopathy 224 2 1.0 C1842552 Limb-girdle muscle atrophy 224 2 1.0 C0796237 Mental Retardation, X-Linked 30 219 2 0.9150805559414614 C0796249 Mental Retardation, X-Linked 47 219 2 0.8486593102436568 C0796206 Atkin syndrome 218 2 1.0 C0796241 MENTAL RETARDATION, X-LINKED 34 (disorder) 218 2 1.0 C0272375 Antithrombin III Deficiency 215 2 0.9051384178621672 C3658294 Hereditary Antithrombin Deficiency 215 2 0.8996165503129521 C0751829 Gait Disorder, Sensorimotor 213 2 1.0 C0751830 Gait Disorders, Neurologic 213 2 1.0 C0221406 Pituitary-dependent Cushing\'s disease 212 2 0.7625877604484975 C0751220 Inappropriate ACTH Secretion Syndrome 212 2 0.6683418467657741 C2931662 Baraitser Brett Piesowicz syndrome 204 2 0.6741613863336682 C3489725 Pseudo-TORCH syndrome 204 2 0.21494277222802854 C0042875 Vitamin E Deficiency 202 2 0.7260317392737631 C1848533 Ataxia with vitamin E deficiency 202 2 0.7704929500618042 C0015544 Failure to Thrive 200 2 0.8155779028014215 C4539857 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 200 2 0.8677287779857149 C0746882 Chronic neutropenia 199 2 0.4265838371316968 C2931027 Neutropenia, severe chronic 199 2 0.5920100690213788 C0272199 Familial Hemophagocytic Lymphocytosis 197 2 0.8777966363934008 C0877564 Lymphohistiocytosis 197 2 0.7536397048762788 C0155686 Acute myocarditis 196 2 0.999197085045493 C1863727 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 196 2 0.999197507327757 C0393934 Slow channel syndrome 193 2 1.0 C0751950 Neuromuscular Junction Diseases 193 2 1.0 C0236811 Chronobiology Disorders 191 2 0.9982707714617883 C0813142 Circadian Rhythm Disorders 191 2 0.9982724805137935 C0036330 Schistosomiasis mansoni 179 2 0.988763024335123 C0242497 Intestinal schistosomiasis 179 2 0.9886896464834624 C0002965 Angina, Unstable 177 2 0.9482857332387249 C0086666 Myocardial Preinfarction Syndrome 177 2 0.9459122721964325 C0007302 Cartilage Diseases 176 2 0.9201452741993069 C0085700 Chondromalacia 176 2 0.9184773235965088 C1846142 HOYERAAL-HREIDARSSON SYNDROME 170 2 0.8388276339539567 C4023400 Generalized hypopigmentation of hair 170 2 0.8741752036602615 C0265965 Dyskeratosis Congenita 169 2 0.32277755243137246 C1148551 X-Linked Dyskeratosis Congenita 169 2 0.5090320589263547 C0024799 Marginal ulcer 167 2 0.3288398176990978 C0030920 Peptic Ulcer 167 2 0.5447430931358818 C0023364 Leptospirosis 165 2 1.0 C0043102 Weil Disease 165 2 1.0 C0014476 Eperythrozoonosis 162 2 0.9763688333050579 C0026936 Mycoplasma Infections 162 2 0.9765910390406776 C0009326 Collagen Diseases 161 2 0.2197946581904022 C0029883 Otitis Media with Effusion 161 2 0.2197946581904022 C0020428 Hyperaldosteronism 160 2 0.6239842402638087 C1384514 Conn Syndrome 160 2 0.503242080335723 C0268292 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency 159 2 0.9987346573900658 C3669121 11-Beta-hydroxylase deficiency 159 2 0.9986468328356723 C0152020 Gastroparesis 154 2 0.6538978464604585 C1841651 Heme Oxygenase 1 Deficiency 154 2 0.6677664042361867 C3853779 Neonatal Alloimmune Thrombocytopenia 153 2 0.8671149155213366 C3854603 FNAITP 153 2 0.9015382542785494 C0343206 Hypocomplementemic urticarial vasculitis 150 2 0.7251035333722083 C4023113 Small vessel vasculitis 150 2 0.4802384476127429 C1384600 Systemic onset juvenile chronic arthritis 148 2 0.37732833560863793 C1858558 Rheumatoid Arthritis, Systemic Juvenile 148 2 0.3485405568182605 C0004030 Aspergillosis 147 2 0.7475659201937482 C0877445 Candidemia 147 2 0.6222172173608798 C1832529 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 145 2 0.8828431613996804 C1838163 OSLER-RENDU-WEBER SYNDROME 2 145 2 0.9325814301758452 C0006105 Brain Abscess 144 2 0.993164548373027 C1619711 Gastrointestinal telangiectasia 144 2 0.9941168798983656 C0238157 Benign hematuria 139 2 1.0 C2931254 Alport syndrome, recessive type 139 2 0.9999999999999892 C0078911 AIDS-Associated Nephropathy 136 2 0.19624088942555618 C0264657 Renal sclerosis with hypertension 136 2 0.36556103101872844 C0238305 Sickle cell nephropathy 135 2 1.0 C2749515 Collapsing glomerulopathy 135 2 1.0 C1855794 Bamforth syndrome 129 2 0.9229300050028818 C1968699 Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate 129 2 0.8722026965642395 C0271568 Laron Syndrome 128 2 0.6274294294334117 C1858656 Short Stature, Idiopathic, Autosomal 128 2 0.6423874513268573 C0271737 Addison\'s disease due to autoimmunity 127 2 0.7301362487287018 C2103602 Autoimmune Primary Adrenal Insufficiency 127 2 0.7475607575035587 C0409952 Idiopathic osteoarthritis 125 2 0.4268252862938259 C1384584 Generalized osteoarthritis 125 2 0.35786274943789437 C0027404 Narcolepsy 124 2 0.6839876167731661 C0751362 Narcolepsy-Cataplexy Syndrome 124 2 0.6825976610042889 C1456246 Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site 122 2 0.4649887553430743 C1861313 Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 122 2 0.7230931052519388 C0041307 Tuberculosis, Bovine 119 2 0.9585787824377588 C0242172 Pelvic Inflammatory Disease 119 2 0.959237567555831 C1970470 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 117 2 1.0 C3711368 Surfactant Dysfunction 117 2 1.0 C1833487 Varicella, Severe Recurrent 115 2 1.0 C1970859 Atypical Mycobacteriosis, Familial, X-Linked 2 115 2 1.0 C1844376 Granulomatous Disease, Chronic, X-Linked 114 2 0.4099805259527406 C3661525 Autosomal Recessive Chronic Granulomatous Disease 114 2 0.6945676297421458 C0038160 Staphylococcal Infections 109 2 0.9748344539664633 C1318973 Staphylococcus aureus infection 109 2 0.9753952292699479 C0014848 Esophageal Achalasia 107 2 0.8953453362940573 C0859976 Idiopathic achalasia of esophagus 107 2 0.8959759896830298 C0085179 Eosinophilia-Myalgia Syndrome 105 2 0.9960081476747794 C0751622 Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related 105 2 0.9961411373722469 C0037926 Compression of spinal cord 102 2 0.7341634200005777 C0742803 Conus Medullaris Syndrome 102 2 0.6864169130975052 C0014740 Erythema Chronicum Migrans 101 2 1.0 C0017677 Glossitis, Benign Migratory 101 2 1.0 C0342879 Primary hypercholesterolemia 92 2 0.5072362079212815 C0342880 Polygenic hypercholesterolemia 92 2 0.47131209749419495 C0221014 Reactive systemic amyloidosis 88 2 0.8757721251653822 C3536715 AA amyloidosis 88 2 0.8195465827971186 C0342611 Familial non-neuropathic amyloidosis 87 2 0.9999999999999984 C1719313 Hereditary amyloid nephropathy 87 2 0.9999999999999984 C1318520 Necrotizing vasculitis 81 2 0.3452722686939388 C4050407 Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis 81 2 0.5754267412787729 C0008728 Eosinophilic granulomatosis with polyangiitis 80 2 0.4995302103214788 C2347126 Microscopic Polyarteritis 80 2 0.6851341021195506 C0023241 Legionnaires\' Disease 76 2 0.6280891037626369 C0343528 Pontiac Fever 76 2 0.4671620033578672 C0276447 Rhinovirus infection 75 2 0.5989059067265652 C0860564 Retinoic acid syndrome 75 2 0.10735026511308464 C0006274 Bronchiolitis, Viral 74 2 1.0 C0343378 Helicobacter-associated gastritis 74 2 1.0 C0034068 Pulmonary Eosinophilia 67 2 0.9846045612758431 C0340076 Asthmatic pulmonary eosinophilia 67 2 0.9875146502406423 C0008513 Chorioretinitis 58 2 1.0 C0271429 Acute otitis media 58 2 1.0 C0740451 Granulomatous disorder 56 2 0.7227409402498903 C1334228 Intestinal Graft Versus Host Disease 56 2 0.582080753975764 C0040028 Thrombocythemia, Essential 47 2 0.6078033982116717 C3489628 Thrombocytosis, Autosomal Dominant 47 2 0.7157361144550303 C1449626 CADASILM 42 2 0.9999999999999983 C4024918 Recurrent subcortical infarcts 42 2 0.9999999999999983 C0598428 genetic hypertension 39 2 0.10835372021513352 C0848548 hypertensive nephropathy 39 2 0.2710858727539722 C0266313 Allanson Pantzar McLeod syndrome 38 2 0.9967420426276508 C2678367 Renal Tubular Dysgenesis With Choanal Atresia And Athelia 38 2 0.9967932374251773 C0019154 Hepatic Vein Thrombosis 32 2 0.9725823938598335 C0856761 Budd-Chiari Syndrome 32 2 0.969756014144591 C0268790 Renal vascular disorder 31 2 0.9330123872994867 C3810332 AURICULOCONDYLAR SYNDROME 3 31 2 0.9296815872533594 C0031039 Pericardial effusion 27 2 0.6271121230469775 C0242426 Chylopericardium 27 2 0.5052535960135892 C0241832 Cerebrovascular Insufficiency 26 2 0.9999999999999984 C0596298 Cerebrovascular Occlusion 26 2 0.9999999999999984 C0018814 Heart Rupture, Post-Infarction 24 2 0.9859785298241688 C1866423 Quebec platelet disorder 24 2 0.9861161833765683 C0549410 Palmar-plantar erythrodysesthesia syndrome 21 2 1.0 C0852711 Sickle Cell Dactylitis 21 2 1.0 C0311370 Lupus anticoagulant disorder 17 2 0.39169644528297426 C2584409 Prothrombin G20210A mutation 17 2 0.2175313471973938 C0039103 Synovitis 13 2 0.7609897081569665 C0410574 Synovial Hypertrophy 13 2 0.7390675909001504 C2675767 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 12 2 1.0 C3279941 STICKLER SYNDROME, TYPE IV 12 2 1.0 C1855310 Megaepiphyseal dwarfism 10 2 0.8592535939310193 C4021538 Mild neurosensory hearing impairment 10 2 0.9210085775509319 C1848488 Pierre Robin syndrome with fetal chondrodysplasia 9 2 0.7156576348555719 C4520892 Otospondylomegaepiphyseal dysplasia 9 2 0.6069410907392268 C0393576 Chorea Acanthocytosis Syndrome 1 2 0.45360518991412135 C0687751 Acanthocytosis 1 2 0.44297794826270537