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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 7901 - 7925 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Caenorhabditis elegans
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Rattus norvegicus (Norway rat)
DOID:0111817
  • syndactyly type 3
  • Aliases:
    • SDTY3
    • ringand little finger syndactyly
    • syndactyly of fingers 4 and 5
    • syndactyly, type III
Mus musculus (house mouse)
DOID:0111816
  • syndactyly type 1
  • Aliases:
    • SDTY1
    • chromosome 2q35 duplication syndrome
    • syndactyly, type 1, with or without craniosynostosis
Homo sapiens (human)
DOID:0111816
  • syndactyly type 1
  • Aliases:
    • SDTY1
    • chromosome 2q35 duplication syndrome
    • syndactyly, type 1, with or without craniosynostosis
Caenorhabditis elegans
DOID:0111816
  • syndactyly type 1
  • Aliases:
    • SDTY1
    • chromosome 2q35 duplication syndrome
    • syndactyly, type 1, with or without craniosynostosis
Mus musculus (house mouse)
DOID:0111815
  • low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Mus musculus (house mouse)
DOID:0111815
  • low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Homo sapiens (human)
DOID:0111815
  • low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Rattus norvegicus (Norway rat)
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Mus musculus (house mouse)
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Drosophila melanogaster (fruit fly)
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Saccharomyces cerevisiae S288C
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Homo sapiens (human)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Homo sapiens (human)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Mus musculus (house mouse)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Rattus norvegicus (Norway rat)
DOID:0111809
  • syndromic microphthalmia 2
  • Aliases:
    • ANOP2
    • MAA2
    • MCOPS2
    • OFCD syndrome
    • cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
    • microphthalmia cataracts radiculomegaly and septal heart defects
    • oculofaciocardiodental syndrome
    • syndromic microphthalmia type 2
Homo sapiens (human)
DOID:0111809
  • syndromic microphthalmia 2
  • Aliases:
    • ANOP2
    • MAA2
    • MCOPS2
    • OFCD syndrome
    • cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
    • microphthalmia cataracts radiculomegaly and septal heart defects
    • oculofaciocardiodental syndrome
    • syndromic microphthalmia type 2
Mus musculus (house mouse)
DOID:0111808
  • linear skin defects with multiple congenital anomalies 1
  • Aliases:
    • MCOPS7
    • MIDAS syndrome
    • Microphthalmia with linear skin defect syndrome
    • microphthalmia-dermal aplasia-sclerocornea syndrome
    • syndromic microphthalmia 7
    • syndromic microphthalmia type 7
Homo sapiens (human)
DOID:0111808
  • linear skin defects with multiple congenital anomalies 1
  • Aliases:
    • MCOPS7
    • MIDAS syndrome
    • Microphthalmia with linear skin defect syndrome
    • microphthalmia-dermal aplasia-sclerocornea syndrome
    • syndromic microphthalmia 7
    • syndromic microphthalmia type 7
Mus musculus (house mouse)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Homo sapiens (human)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Mus musculus (house mouse)
DOID:0111807
  • syndromic microphthalmia 9
  • Aliases:
    • Matthew-Wood syndrome
    • anophthalmia-pulmonary hypoplasia syndrome
    • anophthalmia/microphthalmia and pulmonary hypoplasia
    • clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations
    • pulmonary agenesis microphthalmi and diaphragmatic defect
    • spear syndrome
Rattus norvegicus (Norway rat)
DOID:0111806
  • syndromic microphthalmia 5
  • Aliases:
    • MCOPS5
    • syndromic microphthalmia type 5
    • syndromic microphthalmia/anophthalmia due to OTX2 mutation
Homo sapiens (human)
DOID:0111805
  • syndromic microphthalmia 6
  • Aliases:
    • Bakrania-Ragge syndrome
    • MCOPS6
    • anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
    • microphthalmia and pituitary anomalies
    • microphthalmia with brain and digit anomalies
    • syndromic microphthalmia type 6
Homo sapiens (human)
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Last updated: December 9, 2024