All diseases

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00741 - Schinzel-Giedion midface retraction syndrome 269150 - - - SETBP1 - -
03275 ARCL-1C cutis laxa, autosomal recessive, type IC (ARCL-1C) 613177 - - - LTBP4 - -
04565 DASS dental anomalies and short stature (DASS) 601216 - - - LTBP3 - -
02331 GLC-3B glaucoma, congenital, primary infantile, type 3B (GLC-3B) 600975 - - - CYP1B1, LTBP2 - -
03246 GLC-3D glaucoma, congenital, primary, type 3D (GLC-3D) 613086 - - - LTBP2 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
04655 MRD-29 mental retardation, autosomal dominant, type 29 (MRD-29) 616078 - - - SETBP1 - -
01924 MSPKA microspherophakia and/or megalocornea, with ectopia lentis, with/without secondary glaucoma (MSPKA) 251750 - - - LTBP2 - -
00414 PARK Parkinson disease (PARK) 168600 - - - ADH1C, ATXN2, GBA, MAPT, TBP - -
02634 SCA-17 ataxia, spinocerebellar, type 17 (SCA-17) 607136 - - - TBP - -
03251 STHAG-6 agenesis, tooth, selective, type 6 (STHAG-6) 613097 - - - LTBP3 - -
03734 WMS-3 Weill-Marchesani syndrome, type 3 (WMS-3) 614819 - - - LTBP2 - -
Legend   How to query