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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 8026 - 8050 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
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
Xenopus laevis (African clawed frog)
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: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
Rattus norvegicus (Norway rat)
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
Mus musculus (house mouse)
DOID:0111800
  • syndromic microphthalmia 12
  • Aliases:
    • MCOPS12
    • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Homo sapiens (human)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
Mus musculus (house mouse)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
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: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
Mus musculus (house mouse)
DOID:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
Rattus norvegicus (Norway rat)
DOID:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
Mus musculus (house mouse)
DOID:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
Homo sapiens (human)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
Mus musculus (house mouse)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
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: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
Mus musculus (house mouse)
DOID:0111788
  • Melnick-Needles syndrome
  • Aliases:
    • MNS
    • Melnick-Needles osteodysplasty
    • osteodysplasty of Melnick and Needles
Homo sapiens (human)
DOID:0111787
  • frontometaphyseal dysplasia 2
  • Aliases:
    • FMD2
Rattus norvegicus (Norway rat)
DOID:0111787
  • frontometaphyseal dysplasia 2
  • Aliases:
    • FMD2
Mus musculus (house mouse)
DOID:0111787
  • frontometaphyseal dysplasia 2
  • Aliases:
    • FMD2
Homo sapiens (human)
DOID:0111786
  • frontometaphyseal dysplasia 1
  • Aliases:
    • FMD1
Homo sapiens (human)
DOID:0111785
  • frontometaphyseal dysplasia
  • Aliases:
    • FMD
Mus musculus (house mouse)
DOID:0111785
  • frontometaphyseal dysplasia
  • Aliases:
    • FMD
Rattus norvegicus (Norway rat)
DOID:0111785
  • frontometaphyseal dysplasia
  • Aliases:
    • FMD
Homo sapiens (human)
DOID:0111784
  • otopalatodigital syndrome type 2
  • Aliases:
    • Andre syndrome
    • OPD II syndrome
    • OPD syndrome 2
    • OPD2
    • faciopalatoosseous syndrome
    • oto-palato-digital syndrome type 2
    • otopalatodigital syndrome type II
Homo sapiens (human)
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Last updated: December 9, 2024