All diseases

20 entries on 1 page. Showing entries 1 - 20.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01163 - Severe combined immunodeficiency due to ADA deficiency 102700 31 1 ADA - -
01764 - Ectopia lentis, isolated autosomal recessive 225100 16 12 ADAMTSL4 - -
01765 - Ectopia lentis et pupillae 225200 5 0 ADAMTSL4 - -
01769 - Dermatosparaxis 225410 0 0 ADAMTS2 - -
01810 - Geleophysic dysplasia 231050 0 0 ADAMTSL2 - -
03009 - Polyhydramnios, megalencephaly, and symptomatic epilepsy 611087 0 0 STRADA - -
03280 - syndrome, Weill-Marchesani-like 613195 3 3 ADAMTS17 - -
03607 - Inflammatory skin and bowel disease, neonatal 614328 0 0 ADAM17 - -
03956 - microcornea, myopic chorioretinal atrophy, and telecanthus 615458 0 0 ADAMTS18 - -
04017 AD-18 Alzheimer disease, susceptibility to, type 18 (AD-18) 615590 0 0 ADAM10 - -
03805 AGS-6 Aicardi-Goutieres syndrome, type 6 (AGS-6) 615010 0 0 ADAR - -
03188 CORD-9 dystrophy, cone-rod, type 9 (CORD-9) 612775 0 0 ADAM9 - -
01291 DSH dyschromatosis symmetrica hereditaria (DSH) 127400 8 8 ADAR - autosomal dominant
00169 EDS syndrome, Ehlers-Danlos (EDS) 130000 28 28 ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB - -
00139 ID intellectual disability (ID) - 895 789 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 518 more - -
00154 KNO-2 Knobloch syndrome, type 2 (KNO-2) 608454 1 1 ADAMTS18 - -
00155 MMCAT microcornea, myopic chorioretinal atrophy and telecanthus (MMCAT) - 4 0 ADAMTS18 - -
03886 MRT-36 mental retardation, autosomal recessive, type 36 (MRT-36) 615286 3 3 ADAT3 - -
02094 TTP thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome) 274150 50 0 ADAMTS13 - -
00744 WMS-1 Weill-Marchesani syndrome, type 1, recessive (WMS-1) 277600 0 0 ADAMTS10 - -