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 3826 - 3850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:3390
  • palmoplantar keratosis
  • Aliases:
    • Keratosis palmaris et plantaris
    • Palmoplantar Keratoderma
    • palmo-plantar keratodermas
Mus musculus (house mouse)
DOID:12577
  • urethral obstruction
  • Aliases:
    • Obstruction of urethra
Mus musculus (house mouse)
DOID:0060291
  • oculodentodigital dysplasia
  • Aliases:
    • ODD syndrome
Mus musculus (house mouse)
DOID:0080802
  • autosomal recessive craniometaphyseal dysplasia
Mus musculus (house mouse)
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:0080249
  • erythrokeratodermia variabilis et progressiva 3
Mus musculus (house mouse)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Mus musculus (house mouse)
DOID:0111244
  • palmoplantar keratoderma and congenital alopecia 1
  • Aliases:
    • PPK-CA, Stevanovic type
    • PPKCA Stevanovic type
    • PPKCA1
    • autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
    • autosomal dominant palmoplantar keratoderma and congenital alopecia
    • keratoderma-hypotrichosis-leukonychia totalis syndrome
    • palmoplantar keratoderma and congenital alopecia, Stevanovic type
Mus musculus (house mouse)
DOID:0110480
  • autosomal recessive nonsyndromic deafness 22
  • Aliases:
    • DFNB22
    • autosomal recessive deafness 22
Homo sapiens (human)
DOID:0111984
  • immunodeficiency 58
  • Aliases:
    • IMD58
    • severe combined immunodeficiency due to CARMIL2 deficiency
Homo sapiens (human)
DOID:2121
  • ectodermal dysplasia
  • Aliases:
    • Congenital ectodermal defect
    • Congenital ectodermal dysplasia
Mus musculus (house mouse)
DOID:14693
  • Clouston syndrome
  • Aliases:
    • Clouston's hidrotic ectodermal dysplasia
    • Clouston's syndrome
    • Hidrotic ectodermal dysplasia syndrome
    • ectodermal dysplasia 2, Clouston type
    • hidrotic ectodermal dysplasia
Mus musculus (house mouse)
DOID:0110565
  • autosomal dominant nonsyndromic deafness 3B
  • Aliases:
    • DFNA3B
    • autosomal dominant deafness 3B
Mus musculus (house mouse)
DOID:0110475
  • autosomal recessive nonsyndromic deafness 1A
  • Aliases:
    • DFNB1A
    • autosomal recessive deafness 1A
Mus musculus (house mouse)
DOID:0110476
  • autosomal recessive nonsyndromic deafness 1B
  • Aliases:
    • DFNB1B
    • autosomal recessive deafness 1B
Mus musculus (house mouse)
DOID:0060363
  • glycerol kinase deficiency
Mus musculus (house mouse)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Mus musculus (house mouse)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Mus musculus (house mouse)
DOID:0050338
  • primary bacterial infectious disease
Mus musculus (house mouse)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Mus musculus (house mouse)
DOID:0080328
  • Culler-Jones syndrome
Mus musculus (house mouse)
DOID:0110873
  • holoprosencephaly 9
  • Aliases:
    • HPE9
    • holoprosencephaly with microphthalmia and first branchial arch anomalies
    • pituitary anomalies with holoprosencephaly-like features
Mus musculus (house mouse)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Mus musculus (house mouse)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Mus musculus (house mouse)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Mus musculus (house mouse)

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Last updated: December 9, 2024