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 101 - 125 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:1925
  • Coffin-Siris syndrome
  • Aliases:
    • Dwarfism-Onychodysplasia
    • Fifth Digit Syndrome
    • Short Stature-Onychodysplasia.
Mus musculus (house mouse)
DOID:0080953
  • amelogenesis imperfecta type 1J
  • Aliases:
    • Amelogenesis imperfecta, type IJ
Homo sapiens (human)
DOID:2247
  • spondylosis
  • Aliases:
    • Lumbar spondylosis with myelopathy
    • Spondylogenic compression of lumbar spinal cord
    • Spondylogenic compression of thoracic spinal cord
    • Thoracic or lumbar spondylosis with myelopathy
    • lumbosacral spondylosis without myelopathy
    • spondylosis with myelopathy
Homo sapiens (human)
DOID:4372
  • intracranial embolism
  • Aliases:
    • Cerebral embolism with cerebral infarction
    • cerebral embolism
Homo sapiens (human)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Homo sapiens (human)
DOID:0081023
  • retinal cone dystrophy 4
Homo sapiens (human)
DOID:10485
  • esophageal atresia
  • Aliases:
    • Congenital atresia of esophagus
    • Congenital imperforate esophagus
    • Imperforate esophagus
    • Oesophageal atresia
Homo sapiens (human)
DOID:0080196
  • mandibulofacial dysostosis, Guion-Almeida type
  • Aliases:
    • MFDM syndrome
    • mandibulofacial dysostosis with microcephaly
    • mandibulofacial dysostosis-microcephaly syndrome
Homo sapiens (human)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Homo sapiens (human)
DOID:0070521
  • peeling skin syndrome 2
  • Aliases:
    • PSS2
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0080054
  • achondrogenesis type IA
  • Aliases:
    • achondrogenesis Houston-Harris type
Homo sapiens (human)
DOID:0080234
  • Clark-Baraitser syndrome
  • Aliases:
    • Baraitser syndrome
    • CLABARS
    • autosomal dominant intellectual disability 49
    • autosomal dominant mental retardation 49
Homo sapiens (human)
DOID:0080689
  • mosaic variegated aneuploidy syndrome 3
Homo sapiens (human)
DOID:0110060
  • amelogenesis imperfecta hypomaturation type 2A2
  • Aliases:
    • AI2A2
    • amelogenesis imperfecta hypomaturation type IIA2
    • amelogenesis imperfecta pigmented hypomaturation type 2
    • amelogenesis imperfecta type IIA2
Homo sapiens (human)
DOID:0081148
  • common variable immunodeficiency 5
Homo sapiens (human)
DOID:0081146
  • common variable immunodeficiency 3
Homo sapiens (human)
DOID:0110519
  • autosomal recessive nonsyndromic deafness 68
  • Aliases:
    • DFNB68
    • autosomal recessive deafness 68
Homo sapiens (human)
DOID:0050942
  • spastic ataxia 3
Homo sapiens (human)
DOID:0111468
  • combined oxidative phosphorylation deficiency 25
  • Aliases:
    • COXPD25
Homo sapiens (human)
DOID:0080922
  • bilateral frontoparietal polymicrogyria
Homo sapiens (human)
DOID:0080924
  • bilateral perisylvian polymicrogyria
Homo sapiens (human)
DOID:0070281
  • primary autosomal recessive microcephaly 19
  • Aliases:
    • MCPH19
Homo sapiens (human)
DOID:0070579
  • spermatogenic failure 80
  • Aliases:
    • SPGF80
Homo sapiens (human)
DOID:0110596
  • primary ciliary dyskinesia 21
  • Aliases:
    • CILD21
    • primary ciliary dyskinesia 21 without situs inversus
Homo sapiens (human)

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Last updated: April 7, 2025