All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00911 - Ehlers-Danlos syndrome, progeroid form 130070 - - - B4GALT7 - -
01800 - galactosemia (galactose-1-phosphate uridylyltransferase deficiency) 230400 - - - GALT - -
03902 - Ehlers-Danlos syndrome, progeroid type, 2 615349 - - - B3GALT6 - -
01203 blood group P blood group system, P1PK 111400 - - - A4GALT, B3GALNT1 - -
02629 CDG-2D glycosylation, congenital disorder of, type IId (CDG-2D) 607091 - - - B4GALT1 - -
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 - -
02082 SEMDJL-1 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1) 271640 - - - B3GALT6 - -
02171 TNPS Tn polyagglutination syndrome (TNPS) 300622 - - - C1GALT1C1 - -
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