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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 7376 - 7400 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:12559
  • idiopathic juvenile osteoporosis
  • Aliases:
    • Idiopathic osteoporosis
    • juvenile osteoporosis
Mus musculus (house mouse)
DOID:0111411
  • exudative vitreoretinopathy 4
  • Aliases:
    • EVR4
Mus musculus (house mouse)
DOID:0060849
  • osteoporosis-pseudoglioma syndrome
  • Aliases:
    • OPPG
    • ocular form of osteogenesis imperfecta
Mus musculus (house mouse)
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
Mus musculus (house mouse)
DOID:0090015
  • Cenani-Lenz syndactyly syndrome
  • Aliases:
    • syndactyly type 7
Mus musculus (house mouse)
DOID:0110674
  • congenital myasthenic syndrome 17
  • Aliases:
    • CMS17
Mus musculus (house mouse)
DOID:0060757
  • sclerosteosis 2
  • Aliases:
    • SOST2
Mus musculus (house mouse)
DOID:11829
  • degenerative myopia
  • Aliases:
    • degenerative progressive high myopia
    • pathological myopia
    • progressive high (degenerative) myopia
    • progressive high myopia
Rattus norvegicus (Norway rat)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Rattus norvegicus (Norway rat)
DOID:1062
  • Fanconi syndrome
  • Aliases:
    • Congenital Fanconi syndrome
    • De Toni-Fanconi syndrome
    • Fanconi-de Toni syndrome
    • Fanconi-de-Toni syndrome
    • Infantile nephropathic cystinosis
    • Lignac-Fanconi syndrome
    • adult Fanconi Anemia
    • adult Fanconi syndrome
    • deToni Fanconi syndrome
Rattus norvegicus (Norway rat)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Mus musculus (house mouse)
DOID:0081382
  • amyotrophic lateral sclerosis type 28
Mus musculus (house mouse)
DOID:0081297
  • oculopharyngodistal myopathy 1
Mus musculus (house mouse)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Rattus norvegicus (Norway rat)
DOID:0080751
  • keratosis pilaris atrophicans
Rattus norvegicus (Norway rat)
DOID:0080751
  • keratosis pilaris atrophicans
Mus musculus (house mouse)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Mus musculus (house mouse)
DOID:0110864
  • congenital stationary night blindness 1F
  • Aliases:
    • CSNB1F
    • congenital stationary night blindness 1F autosomal recessive
Mus musculus (house mouse)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Mus musculus (house mouse)
DOID:0081151
  • common variable immunodeficiency 8
  • Aliases:
    • common variable immunodeficiency-8 (CVID8) with autoimmunity
Mus musculus (house mouse)
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Rattus norvegicus (Norway rat)
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Mus musculus (house mouse)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Rattus norvegicus (Norway rat)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Mus musculus (house mouse)
DOID:0110525
  • autosomal recessive nonsyndromic deafness 77
  • Aliases:
    • DFNB77
    • autosomal recessive deafness 77
Mus musculus (house mouse)
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Last updated: December 9, 2024