All diseases

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03275 ARCL1C cutis laxa, autosomal recessive, type IC (ARCL-1C) 613177 AR 10 9 LTBP4 - -
04565 DASS dental anomalies and short stature (DASS) 601216 AR - - LTBP3 - -
02331 GLC3B glaucoma, congenital, primary infantile, type 3B (GLC-3B) 600975 - 1 1 CYP1B1, LTBP2 - -
03246 GLC3D glaucoma, congenital, primary, type 3D (GLC-3D) 613086 - 19 19 LTBP2 - -
06120 GPHYSD3 Geleophysic dysplasia 3 617809 AD - - LTBP3 - -
06632 HADDTS Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915 AD - - CTBP1 - -
00139 ID intellectual disability (ID) - - 2355 2054 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
04655 MRD29 mental retardation, autosomal dominant, type 29 (MRD29) 616078 AD 5 3 SETBP1 - -
01924 MSPKA microspherophakia and/or megalocornea, with ectopia lentis, with/without secondary glaucoma (MSPKA) 251750 AR 7 7 LTBP2 - -
00414 PD Parkinson disease (PD) 168600 AD;Mu 69 51 ADH1C, ATXN2, GBA, MAPT, TBP - -
02634 SCA17 ataxia, spinocerebellar, type 17 (SCA-17) 607136 AD 1 - TBP - -
00741 SGS Schinzel-Giedion midface retraction syndrome (SGS) 269150 AD 17 3 SETBP1 - autosomal dominant
03251 STHAG6 agenesis, tooth, selective, type 6 (STHAG-6) 613097 - - - LTBP3 - -
03734 WMS3 Weill-Marchesani syndrome, type 3 (WMS-3) 614819 AR 1 1 LTBP2 - -
Legend   How to query