All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00169 EDS Ehlers-Danlos syndrome (EDS) - - 1800 241 ADAMTS2, B4GALT7, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, PLOD1, PRDM5, SLC39A13, TNXB - -
05754 EDSSPD Ehlers-Danlos, spondylodysplastic syndrome (EDSSPD) - - 5 5 B4GALT7 - -
00911 EDSSPD1 Ehlers-Danlos, progeroid, spondylodysplastic syndrome, type 1 (EDSSPD1) 130070 AR 5 - B4GALT7 - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00339 LRS Larsen syndrome (LRS) 150250 AD 93 25 B4GALT7, FLNB - -
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