All diseases

12 entries on 1 page. Showing entries 1 - 12.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05816 ALGAZ Al-Gazali syndrome (ALGAZ) 609465 AR 1 - B3GALT6 - -
01203 blood group P blood group system, P1PK 111400 - - - A4GALT, B3GALNT1 - -
02629 CDG2D glycosylation, congenital disorder of, type IId (CDG-2D) 607091 AR - - B4GALT1 - -
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 - -
03902 EDSSPD2 Ehlers-Danlos, spondylodysplastic syndrome, type 2 (EDSSPD2) 615349 AR 17 - B3GALT6 - -
01800 GALAC1 galactosemia (galactose-1-phosphate uridylyltransferase deficiency) 230400 AR 7 7 GALT - autosomal recessive
00139 ID intellectual disability (ID) - - 2695 2377 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 - -
02082 SEMDJL1 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1) 271640 AR 17 2 B3GALT6 - -
02171 TNPS Tn polyagglutination syndrome (TNPS) 300622 - - - C1GALT1C1 - -
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