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:0111776
  • 46,XY sex reversal 5
  • Aliases:
    • 46,XY gonadal dysgenesis, complete, CBX2-related
    • 46,XY sex reversal, CBX2-related
    • SRXY5
    • disorder of sex development, 46,XY, CBX2-related
    • sex reversal, XY, CBX2-related
Homo sapiens (human)
DOID:0111777
  • 46,XY sex reversal 2
  • Aliases:
    • 46,XY sex reversal, DAX1-related
    • 46XY sex reversal 2, dosage-sensitive
    • SRXY2
    • dosage-sensitive sex reversal
Homo sapiens (human)
DOID:0111779
  • X-linked panhypopituitarism
  • Aliases:
    • PHPX
    • pituitary dwarfism IV
Mus musculus (house mouse)
DOID:0111780
  • TARP syndrome
  • Aliases:
    • Pierre Robin sequence-congenital heart defect-talipes syndrome
    • Pierre Robin syndrome-congenital heart defect-talipes syndrome
    • TARPS
    • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Homo sapiens (human)
DOID:0111780
  • TARP syndrome
  • Aliases:
    • Pierre Robin sequence-congenital heart defect-talipes syndrome
    • Pierre Robin syndrome-congenital heart defect-talipes syndrome
    • TARPS
    • talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
Mus musculus (house mouse)
DOID:0111782
  • otopalatodigital syndrome spectrum disorder
  • Aliases:
    • OPD spectrum disorder
    • OPSD
    • fronto-otopalatodigital osteodysplasia
Homo sapiens (human)
DOID:0111783
  • otopalatodigital syndrome type 1
  • Aliases:
    • OPD I syndrome
    • OPD syndrome 1
    • OPD1
    • Taybi syndrome
    • oto-palato-digital syndrome type 1
    • otopalatodigital syndrome type I
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)
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:0111786
  • frontometaphyseal dysplasia 1
  • Aliases:
    • FMD1
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: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: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: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: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: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)

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Last updated: December 9, 2024