All diseases

28 entries on 1 page. Showing entries 1 - 28.
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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 - -
00519 CRCS1 cancer, colorectal, susceptibility to, type 1 (CRCS-1) 608812 - - - GALNT12 - -
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 - -
04676 EIEE15 encephalopathy, epileptic, early infantile, type 15 (EIEE-15) 615006 AR 1 1 ST3GAL3 - -
04481 ETL8 epilepsy?, temporal lobe, familial, type 8 (ETL-8) 616461 AD - - GAL - -
01800 GALAC1 galactosemia (galactose-1-phosphate uridylyltransferase deficiency) 230400 AR 7 7 GALT - autosomal recessive
01798 GALAC2 galactokinase deficiency, cataract 230200 AR 2 2 GALK1 - -
01799 GALAC3 galactose epimerase deficiency (UDPglucose-4-epimerase deficiency) 230350 AR - - GALE - -
06498 GALAC4 Galactosemia IV 618881 - - - GALM - -
03807 GLOB blood group system, globoside 615021 - - - B3GALNT1 - -
04472 HFTC calcinosis, tumoral, hyperphosphatemic, familial (HFTC) 211900 AR - - FGF23, GALNT3, KL - -
00139 ID intellectual disability (ID) - - 2697 2379 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01882 Krabbe Krabbe disease (galactosylceramide beta-galactosidase deficiency) 245200 AR 1 1 GALC - autosomal recessive
00339 LRS Larsen syndrome (LRS) 150250 AD 93 25 B4GALT7, FLNB - -
02760 MCI1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - 41 2 ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
03846 MDDGA11 dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A11 (MDDGA-11) 615181 AR - - B3GALNT2 - -
01937 MPS4A mucopolysaccharidosis, type IVA (MPS-4A) 253000 AR 1 - GALNS - -
00791 MRT12 mental retardation, autosomal recessive, type 12 (MRT-12) 611090 AR 2 2 ST3GAL3 - -
06804 SDJLABA Skeletal dysplasia, mild, with joint laxity and advanced bone age 618870 - - - CSGALNACT1 - -
02082 SEMDJL1 dysplasia, spondyloepimetaphyseal, with joint laxity (SEMDJL-1) 271640 AR 17 2 B3GALT6 - -
02819 SPDRS salt and pepper developmental regression syndrome (SPDRS) 609056 DD 5 5 ST3GAL5 - 124/125 psychomotor delay, 71/125 microcephaly, 98/125 epilepsy, 80/125 dystonia/movement disorder, 16/125 sit/walk independently, 100/125 developmental stagnation/failure to thrive, 118/125 development delay, 41/125 hearing impairment, 38/125 vision impairment, 43/125 abnormal pigmentation, 90/125 irritability, 52/125 feeding difficulties, 30/125 gastrostomy feeding tube, 7/125 facial dysmorphic features, 19/125 scoliosis, 52/125 abnormal electroencephalographic
04372 SPG26 paraplegia, spastic, autosomal recessive, type 26 (SPG-26) 609195 AR - - B4GALNT1 - -
02171 TNPS Tn polyagglutination syndrome (TNPS) 300622 - - - C1GALT1C1 - -
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