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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 1901 - 1925 of 15957 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Mus musculus (house mouse)
DOID:0060571
  • Ritscher-Schinzel syndrome 1
Homo sapiens (human)
DOID:0060572
  • Ritscher-Schinzel syndrome 2
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Mus musculus (house mouse)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Mus musculus (house mouse)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Mus musculus (house mouse)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Caenorhabditis elegans
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Drosophila melanogaster (fruit fly)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)
DOID:1933
  • Rubinstein-Taybi syndrome
  • Aliases:
    • Broad Thumb-Hallux syndrome
    • Rubinstein syndrome
    • proximal chromosome 16p13.3 deletion syndrome
Homo sapiens (human)
DOID:1933
  • Rubinstein-Taybi syndrome
  • Aliases:
    • Broad Thumb-Hallux syndrome
    • Rubinstein syndrome
    • proximal chromosome 16p13.3 deletion syndrome
Mus musculus (house mouse)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Xenopus laevis (African clawed frog)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Drosophila melanogaster (fruit fly)
DOID:0060428
  • SATB2-associated syndrome
  • Aliases:
    • 2q32-q33 microdeletion syndrome
    • 2q32q33 microdeletion syndrome
    • Glass syndrome
    • chromosome 2q32-q33 deletion syndrome
    • monosomy 2q32
    • monosomy 2q32-q33
    • monosomy 2q32q33
Homo sapiens (human)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Mus musculus (house mouse)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Rattus norvegicus (Norway rat)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Homo sapiens (human)
DOID:4797
  • SM-AHNMD
  • Aliases:
    • systemic mastocytosis with associated clonal haematological non-mast cell lineage disease
    • systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Mus musculus (house mouse)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Rattus norvegicus (Norway rat)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Homo sapiens (human)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Mus musculus (house mouse)
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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024