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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 8551 - 8575 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111348
  • multiple epiphyseal dysplasia with myopia and deafness
  • Aliases:
    • EDMMD
    • multiple epiphyseal dysplasia, Beighton type
    • multiple epiphyseal dysplasia-myopia-deafness syndrome
Rattus norvegicus (Norway rat)
DOID:0111348
  • multiple epiphyseal dysplasia with myopia and deafness
  • Aliases:
    • EDMMD
    • multiple epiphyseal dysplasia, Beighton type
    • multiple epiphyseal dysplasia-myopia-deafness syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0111347
  • epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Aliases:
    • EBD, Bart type
    • epidermolysis bullosa dystrophica, Bart type
Mus musculus (house mouse)
DOID:0111347
  • epidermolysis bullosa with congenital localized absence of skin and deformity of nails
  • Aliases:
    • EBD, Bart type
    • epidermolysis bullosa dystrophica, Bart type
Homo sapiens (human)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Mus musculus (house mouse)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Rattus norvegicus (Norway rat)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Homo sapiens (human)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Mus musculus (house mouse)
DOID:0111345
  • transient bullous dermolysis of the newborn
  • Aliases:
    • DEB, bullous dermolysis of the newborn
    • DEB-BDN
Homo sapiens (human)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Mus musculus (house mouse)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Drosophila melanogaster (fruit fly)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Homo sapiens (human)
DOID:0111344
  • myeloproliferative disorder with eosinophilia
  • Aliases:
    • chronic myeloproliferative disorder with eosinophilia
Rattus norvegicus (Norway rat)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Homo sapiens (human)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Mus musculus (house mouse)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Rattus norvegicus (Norway rat)
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Caenorhabditis elegans
DOID:0111343
  • lateral meningocele syndrome
  • Aliases:
    • Lehman syndrome
Drosophila melanogaster (fruit fly)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Homo sapiens (human)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Mus musculus (house mouse)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Rattus norvegicus (Norway rat)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Caenorhabditis elegans
DOID:0111340
  • dominant optic atrophy plus syndrome
  • Aliases:
    • DOA+
    • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Homo sapiens (human)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Mus musculus (house mouse)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
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Last updated: December 9, 2024