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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 8176 - 8200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111674
  • intellectual developmental disorder with short stature and behavioral abnormalities
  • Aliases:
    • IDDSSBA
Mus musculus (house mouse)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Homo sapiens (human)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Saccharomyces cerevisiae S288C
DOID:0111672
  • primary hyperoxaluria type 3
  • Aliases:
    • HP3
    • PH III
    • primary hyperoxaluria type III
Homo sapiens (human)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Mus musculus (house mouse)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Homo sapiens (human)
DOID:0111670
  • primary hyperoxaluria type 1
  • Aliases:
    • HP1
    • alanine-glyoxylate aminotransferase deficiency
    • glycolic aciduria
    • hepatic AGT deficiency
    • oxalosis I
    • peroxisomal alanine-glyoxylate aminotransferase deficiency
    • serine pyruvate aminotransferase deficiency
Homo sapiens (human)
DOID:0111669
  • hyaline fibromatosis syndrome
  • Aliases:
    • HFS
    • inherited systemic hyalinosis
    • puretic syndrome
    • systemic hyalinosis
Homo sapiens (human)
DOID:0111669
  • hyaline fibromatosis syndrome
  • Aliases:
    • HFS
    • inherited systemic hyalinosis
    • puretic syndrome
    • systemic hyalinosis
Mus musculus (house mouse)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Rattus norvegicus (Norway rat)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Saccharomyces cerevisiae S288C
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Homo sapiens (human)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Mus musculus (house mouse)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Mus musculus (house mouse)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Caenorhabditis elegans
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Homo sapiens (human)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Rattus norvegicus (Norway rat)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Mus musculus (house mouse)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Danio rerio (zebrafish)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Saccharomyces cerevisiae S288C
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Mus musculus (house mouse)
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Homo sapiens (human)
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Homo sapiens (human)
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Drosophila melanogaster (fruit fly)
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Mus musculus (house mouse)
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Last updated: December 9, 2024