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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3126 - 3150 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Homo sapiens (human)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0111397
  • congenital dyserythropoietic anemia type Ib
  • Aliases:
    • CDA, type Ib
    • CDAN1B
Homo sapiens (human)
DOID:0111398
  • congenital dyserythropoietic anemia type Ia
  • Aliases:
    • CDA Ia
    • CDAN1A
Homo sapiens (human)
DOID:0111399
  • congenital dyserythropoietic anemia type IIIa
  • Aliases:
    • CDA III
    • CDA type 3
    • CDA type III
    • CDAN3
    • Congenital dyserythropoietic anaemia type 3
    • Congenital dyserythropoietic anemia type 3
    • anaemia with multinucleated erythroblasts
    • anemia with multinucleated erythroblasts
    • congenital dyserythropoietic anaemia type III
    • hereditary benign erythroreticulosis
Homo sapiens (human)
DOID:0111401
  • congenital dyserythropoietic anemia type II
  • Aliases:
    • CDA II
    • CDA type 2
    • CDA type II
    • CDAN2
    • Congenital dyserythropoietic anaemia type 2
    • Congenital dyserythropoietic anemia type 2
    • Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)
    • SEC23B-CDG
    • congenital dyserythropoietic anaemia type II
Homo sapiens (human)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Homo sapiens (human)
DOID:0111403
  • mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
  • Aliases:
    • MCCCHCM
Homo sapiens (human)
DOID:0111403
  • mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
  • Aliases:
    • MCCCHCM
Mus musculus (house mouse)
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:0111406
  • Fraser syndrome 3
  • Aliases:
    • FRASRS3
Homo sapiens (human)
DOID:0111407
  • Fraser syndrome 2
  • Aliases:
    • FRASRS2
Homo sapiens (human)
DOID:0111410
  • exudative vitreoretinopathy 6
  • Aliases:
    • EVR6
Homo sapiens (human)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Homo sapiens (human)
DOID:0111412
  • exudative vitreoretinopathy 1
  • Aliases:
    • EVR1
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0111416
  • trichohepatoenteric syndrome 2
  • Aliases:
    • THES2
Homo sapiens (human)
DOID:0111418
  • familial apolipoprotein C-II deficiency
  • Aliases:
    • C-II anapolipoproteinemia
    • familial APOC2 deficiency
    • familial apoC-II deficiency
    • hyperlipoproteinemia, type 1b
    • hyperlipoproteinemia, type Ib
Homo sapiens (human)
DOID:0111420
  • familial GPIHBP1 deficiency
  • Aliases:
    • familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
    • hyperlipoproteinemia type 1D
    • hyperlipoproteinemia type ID
Homo sapiens (human)
DOID:0111421
  • familial apolipoprotein A5 deficiency
  • Aliases:
    • familial APOA5 deficiency
    • familial apolipoprotein A-V deficiency
Homo sapiens (human)
DOID:0111422
  • familial lipase maturation factor 1 deficiency
  • Aliases:
    • LPL and HL deficiency
    • LPL and HTGL deficiency
    • combined lipase deficiency
    • familial LMF1 deficiency
    • lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency
Homo sapiens (human)
DOID:0111424
  • branchiootorenal syndrome 2
  • Aliases:
    • BOR2
Homo sapiens (human)
DOID:0111425
  • familial restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • restrictive cardiomyopathy 1
Homo sapiens (human)
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Last updated: December 8, 2025