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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 13851 - 13875 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Homo sapiens (human)
DOID:0060737
  • junctional epidermolysis bullosa Herlitz type
  • Aliases:
    • Herlitz type epidermolysis bullosa junctionalis
    • Herlitz-Pearson-type epidermolysis bullosa
    • JEB-H
    • JEB-Herlitz type
    • epidermolysis bullosa letalis
    • junctional epidermolysis bullosa generalisata gravis
    • junctional epidermolysis bullosa, Herlitz-Pearson type
Mus musculus (house mouse)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Mus musculus (house mouse)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Rattus norvegicus (Norway rat)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Mus musculus (house mouse)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Mus musculus (house mouse)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Homo sapiens (human)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Rattus norvegicus (Norway rat)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Drosophila melanogaster (fruit fly)
DOID:0060733
  • junctional epidermolysis bullosa with pyloric atresia
  • Aliases:
    • Carmi syndrome
    • JEB-PA
    • epidermolysis bullosa junctionalis with pyloric atresia
    • junctional epidermolysis bullosa-pyloric atresia syndrome
Caenorhabditis elegans
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Homo sapiens (human)
DOID:0060732
  • chromosome 9p deletion syndrome
  • Aliases:
    • 9p syndrome
    • Alfi syndrome
    • monosomy 9p syndrome
Mus musculus (house mouse)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Rattus norvegicus (Norway rat)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Mus musculus (house mouse)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Caenorhabditis elegans
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Mus musculus (house mouse)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Drosophila melanogaster (fruit fly)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Rattus norvegicus (Norway rat)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Homo sapiens (human)
DOID:0060728
  • NGLY1-deficiency
  • Aliases:
    • NGLY1-CDDG
    • congenital disorder of deglycosylation
    • congenital disorder of glycosylation type Iv
    • deficiency of N-glycanase 1
Homo sapiens (human)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
Mus musculus (house mouse)
DOID:0060720
  • autosomal recessive congenital ichthyosis 11
  • Aliases:
    • IFAH syndrome
    • IHS
    • autosomal recessive ichthyosis with hypotrichosis
    • hypotrichosis-congenital ichthyosis syndrome
    • ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis
    • ichthyosis-follicular atrophoderma-hypotrichosis syndrome
    • ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
    • ichthyosis-hypotrichosis syndrome
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024