All diseases

19 entries on 1 page. Showing entries 1 - 19.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01765 - ectopia lentis et pupillae 225200 AR 5 0 ADAMTSL4 - -
02982 - Immunodeficiency due to defect in mapbp-interacting protein 610798 AR 0 0 LAMTOR2 - -
06628 AI3B ?Amelogenesis imperfecta, type IIIB 617607 AD 0 0 AMTN - -
00789 CANPMR ataxia, cerebellar, nonprogressive, with mental retardation (CANPMR) 614756 AD 5 2 CAMTA1 - -
03185 CCDS deficiency, cerebral creatine, syndrome (CCDS) - - 0 0 GAMT, GATM, SLC6A8 - -
03186 CCDS2;GAMTD deficiency, cerebral creatine, syndrome, type 2 (CCDS2, guanidinoacetate methyltransferase deficiency (GAMTD)) 612736 AR 101 101 GAMT - autosomal recessive
01764 ECTOL2 ectopia lentis, isolated autosomal recessive, type 2 (ECTOL2) 225100 AR 16 12 ADAMTSL4 - -
00169 EDS Ehlers-Danlos syndrome (EDS) - - 1716 160 ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, TNXB - -
01769 EDSDERMS Ehlers-Danlos syndrome, dermatosparaxis type 225410 AR 14 0 ADAMTS2 - -
00035 GCE encephalopathy, glycine (GCE) 605899 AR 583 583 AMT, GCSH, GLDC - -
01810 GPHYSD1 Geleophysic dysplasia 231050 AR 14 0 ADAMTSL2 - -
06638 HKLLS3 Hennekam lymphangiectasia-lymphedema syndrome 3 618154 AR 0 0 ADAMTS3 - -
00139 ID intellectual disability (ID) - - 2133 1869 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 537 more - -
00154 KNO2 Knobloch syndrome, type 2 (KNO-2) 608454 - 1 1 ADAMTS18 - -
00155 MMCAT microcornea, myopic chorioretinal atrophy and telecanthus (MMCAT) - - 4 0 ADAMTS18 - -
03956 MMCAT microcornea, myopic chorioretinal atrophy, and telecanthus 615458 AR 0 0 ADAMTS18 - -
02094 TTP thrombocytopenic purpura, thrombotic, congenital (TTP, Upshaw-Schulman syndrome) 274150 AR 50 0 ADAMTS13 - -
00744 WMS1 Weill-Marchesani syndrome, type 1, recessive (WMS-1) 277600 AR 0 0 ADAMTS10 - -
03280 WMS4 Weill-Marchesani 4 syndrome, recessive 613195 AR 3 3 ADAMTS17 - -
Legend   How to query