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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3351 - 3375 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111788
  • Melnick-Needles syndrome
  • Aliases:
    • MNS
    • Melnick-Needles osteodysplasty
    • osteodysplasty of Melnick and Needles
Homo sapiens (human)
DOID:0111789
  • Frank-Ter Haar syndrome
  • Aliases:
    • Borrone dermatocardioskeletal syndrome
    • FTHS
    • Ter Haar syndrome
    • autosomal recessive Melnick-Needles syndrome
    • megalocornea, multiple skeletal anomalies, and developmental delay
Homo sapiens (human)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
Homo sapiens (human)
DOID:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
Homo sapiens (human)
DOID:0111798
  • X-linked nephrolithiasis type I
  • Aliases:
    • NPHL1
    • X-linked nephrolithiasis with renal failure
    • X-linked recessive urolithiasis type 1
    • XRN
    • nephrolithiasis 1
    • nephrolithiasis X-linked recessive type 1
Homo sapiens (human)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
Homo sapiens (human)
DOID:0111800
  • syndromic microphthalmia 12
  • Aliases:
    • MCOPS12
    • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Homo sapiens (human)
DOID:0111801
  • syndromic microphthalmia 3
  • Aliases:
    • AEG syndrome
    • MCOPS3
    • SOX2 anophthalmia syndrome
    • anophthalmia clinical with associated anomalies
    • anophthalmia esophageal genital syndrome
    • anophthalmia microphthalmia esophageal atresia
    • anophthalmia/microphthalmia-esophageal atresia syndrome
    • microphthalmia and esophageal atresia syndrome
    • syndromic microphthalmia type 3
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)
DOID:0111806
  • syndromic microphthalmia 5
  • Aliases:
    • MCOPS5
    • syndromic microphthalmia type 5
    • syndromic microphthalmia/anophthalmia due to OTX2 mutation
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
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
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: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:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Homo sapiens (human)
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: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:0111815
  • low molecular weight proteinuria with hypercalciuric nephrocalcinosis
Homo sapiens (human)
DOID:0111816
  • syndactyly type 1
  • Aliases:
    • SDTY1
    • chromosome 2q35 duplication syndrome
    • syndactyly, type 1, with or without craniosynostosis
Homo sapiens (human)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
Homo sapiens (human)
DOID:0111819
  • syndactyly type 5
  • Aliases:
    • SDTY5
    • syndactyly with associated metacarpal and metatarsal fusion
Homo sapiens (human)
DOID:0111821
  • ichthyosis follicularis-alopecia-photophobia syndrome 1
  • Aliases:
    • IFAP syndrome 1
    • IFAP syndrome 1 with or without BRESHECK syndrome
    • ichthyosis follicularis-atrichia-photophobia syndrome 1
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Homo sapiens (human)
DOID:0111834
  • X-linked reticulate pigmentary disorder
  • Aliases:
    • Partington disease
    • X-linked reticulate pigmentary disorder with systemic manifestations
Homo sapiens (human)
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