All diseases

27 entries on 1 page. Showing entries 1 - 27.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01765 - ectopia lentis et pupillae 225200 AR 7 1 ADAMTSL4 - -
04214 - retinal disease - - 48173 45676 ADAM9, AGBL5, ARL2BP, BBS2, C8orf37, IFT43, KIF3B, MERTK, PDE6G, REEP6, SCAPER, USH2A, ZNF408 - -
04017 AD18 Alzheimer disease, susceptibility to, type 18 (AD-18) 615590 - - - ADAM10 - -
03805 AGS6 Aicardi-Goutieres syndrome, type 6 (AGS6) 615010 AR - - ADAR - -
00058 CORD dystrophy, cone-rod (CORD) - - 363 361 ADAM9, DRAM2, GUCY2D, PITPNM3, POC1B, RAB28, TTLL5 - -
03188 CORD9 dystrophy, cone-rod, type 9 (CORD-9) 612775 AR - - ADAM9 - -
01291 DSH dyschromatosis symmetrica hereditaria (DSH) 127400 AD 8 8 ADAR - autosomal dominant
01764 ECTOL2 ectopia lentis, isolated autosomal recessive, type 2 (ECTOL2) 225100 AR 23 20 ADAMTSL4 - -
00169 EDS Ehlers-Danlos syndrome (EDS) - - 1800 241 ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB - -
01769 EDSDERMS Ehlers-Danlos syndrome, dermatosparaxis type 225410 AR 14 - ADAMTS2 - -
05710 EIEE61 encephalopathy, epileptic, early infantile, type 61 (EIEE61) 617933 AR - - ADAM22 - -
01810 GPHYSD1 Geleophysic dysplasia 231050 AR 14 - ADAMTSL2 - -
06638 HKLLS3 Hennekam lymphangiectasia-lymphedema syndrome, type 3 618154 AR - 1 ADAMTS3 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00154 KNO2 Knobloch syndrome, type 2 (KNO-2) 608454 - 1 1 ADAMTS18 - -
00155 MMCAT microcornea, myopic chorioretinal atrophy and telecanthus (MMCAT) - - 4 - ADAMTS18 - -
03956 MMCAT microcornea, myopic chorioretinal atrophy, and telecanthus 615458 AR - - ADAMTS18 - -
03886 MRT36 mental retardation, autosomal recessive, type 36 (MRT-36) 615286 AR 3 3 ADAT3 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 72 more - -
05960 NEDHYMS neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) 618862 AR - - ADARB1 - -
03607 NISBD1 Inflammatory skin and bowel disease, neonatal 614328 AR - - ADAM17 - -
03009 PMSE Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 AR - - STRADA - -
06258 RAK Reticulate acropigmentation of Kitamura 615537 AD - - ADAM10 - -
01163 SCIDADA immunodeficiency, severe combined, due to ADA deficiency 102700 SMo;AR 31 1 ADA - -
02094 TTP thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome) 274150 AR 50 - ADAMTS13 - -
00744 WMS1 Weill-Marchesani syndrome, type 1, recessive (WMS-1) 277600 AR - - ADAMTS10 - -
03280 WMS4 Weill-Marchesani 4 syndrome, recessive 613195 AR 3 3 ADAMTS17 - -
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