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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 6226 - 6250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:14228
  • oligospermia
Homo sapiens (human)
DOID:3827
  • congenital diaphragmatic hernia
  • Aliases:
    • Diaphragmatic Hernia
Homo sapiens (human)
DOID:0111876
  • linear skin defects with multiple congenital anomalies 3
  • Aliases:
    • LSDMCA3
    • linear skin defects with cardiomyopathy and other congenital anomalies
Homo sapiens (human)
DOID:0110920
  • hereditary spherocytosis type 5
  • Aliases:
    • HS5
    • SPH5
    • hereditary spherocytosis 5
Homo sapiens (human)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Homo sapiens (human)
DOID:13450
  • coccidioidomycosis
  • Aliases:
    • primary extrapulmonary coccidioidomycosis
Homo sapiens (human)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Homo sapiens (human)
DOID:0060305
  • megalocornea
  • Aliases:
    • anterior megalophthalmos
    • congenital anterior megalophthalmia
Homo sapiens (human)
DOID:90
  • degenerative disc disease
  • Aliases:
    • cervical disc degenerative disease
    • intervertebral disc degeneration
    • lumbar disc degeneration
    • vertebral disc disease
Homo sapiens (human)
DOID:8622
  • measles
  • Aliases:
    • morbilli
Homo sapiens (human)
DOID:3755
  • antithrombin III deficiency
  • Aliases:
    • AT III deficiency
    • hereditary thrombophilia due to congenital antithrombin deficiency
Homo sapiens (human)
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Homo sapiens (human)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Homo sapiens (human)
DOID:8437
  • intestinal obstruction
Homo sapiens (human)
DOID:14757
  • Ehlers-Danlos syndrome hypermobility type
  • Aliases:
    • Ehlers-Danlos syndrome, type 3
    • type III Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:0050835
  • generalized dystonia
  • Aliases:
    • familial dystonia
    • fragments of torsion dystonia
Homo sapiens (human)
DOID:10140
  • dry eye syndrome
  • Aliases:
    • Tear film insufficiency
    • dry eye disease
Homo sapiens (human)
DOID:0081333
  • Wiedemann-Rautenstrauch syndrome
  • Aliases:
    • Neonatal progeroid syndrome
    • PROGEROID SYNDROME, NEONATAL
Homo sapiens (human)
DOID:0111588
  • Greenberg dysplasia
  • Aliases:
    • GRBGD
    • Greenberg skeletal dysplasia
    • HEM dysplasia
    • Skeletal dysplasia, Greenberg type
    • autosomal recessive lethal chondrodystrophy with congenital hydrops
    • hydrops, ectopic calcification, moth-eaten skeletal dysplasia
    • hydrops-ectopic calcification-motheaten syndrome
Homo sapiens (human)
DOID:0111867
  • nonphotosensitive trichothiodystrophy
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Homo sapiens (human)
DOID:0080326
  • familial hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Homo sapiens (human)
DOID:0080431
  • developmental and epileptic encephalopathy 19
  • Aliases:
    • DEE19
    • early infantile epileptic encephalopathy 19
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
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Last updated: December 9, 2024