All diseases

16 entries on 1 page. Showing entries 1 - 16.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01764 - Ectopia lentis, isolated autosomal recessive 225100 16 12 ADAMTSL4 - -
01765 - Ectopia lentis et pupillae 225200 4 0 ADAMTSL4 - -
01769 - Dermatosparaxis 225410 0 0 ADAMTS2 - -
01810 - Geleophysic dysplasia 231050 0 0 ADAMTSL2 - -
02982 - Immunodeficiency due to defect in mapbp-interacting protein 610798 0 0 LAMTOR2 - -
03280 - syndrome, Weill-Marchesani-like 613195 3 3 ADAMTS17 - -
03956 - microcornea, myopic chorioretinal atrophy, and telecanthus 615458 0 0 ADAMTS18 - -
00789 CANPMR ataxia, cerebellar, nonprogressive, with mental retardation (CANPMR) 614756 0 0 CAMTA1 - -
03186 CCDS-2;GAMTD deficiency, cerebral creatine, syndrome, type 2 (CCDS-2, guanidinoacetate methyltransferase deficiency (GAMTD)) 612736 1 1 GAMT - -
00169 EDS Ehlers-Danlos syndrome 130000 22 22 ADAMTS2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB - -
00035 GCE encephalopathy, glycine (GCE) 605899 580 580 AMT, GCSH, GLDC - -
00139 ID intellectual disability (ID) - 435 368 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 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 - -
02094 TTP thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome) 274150 0 0 ADAMTS13 - -
00744 WMS-1 Weill-Marchesani syndrome, type 1, recessive (WMS-1) 277600 0 0 ADAMTS10 - -