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 8576 - 8600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Mus musculus (house mouse)
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Caenorhabditis elegans
DOID:0111394
  • mucopolysaccharidosis type IIIB
  • Aliases:
    • MPS3B
    • MPSIIIB
    • Mucopoly-saccharidosis type 3B
    • Mucopolysaccharidosis type 3B
    • N-acetyl-alpha-glucosaminidase deficiency
    • NAGLU deficiency
    • Sanfilippo syndrome type B
    • mucopolysaccharidosis type IIIB (Sanfilippo B)
Mus musculus (house mouse)
DOID:0111393
  • mucopolysaccharidosis type IIIC
  • Aliases:
    • Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency
    • HGSNAT deficiency
    • Heparan-alpha-glucosaminide N-acetyltransferase deficiency
    • MPS3C
    • MPSIIIC
    • Mucopolysaccharidosis type 3C
    • Sanfilippo syndrome type C
    • mucopolysaccharidosis type IIIC (Sanfilippo C)
Mus musculus (house mouse)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Mus musculus (house mouse)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Caenorhabditis elegans
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Xenopus laevis (African clawed frog)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Mus musculus (house mouse)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Danio rerio (zebrafish)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Rattus norvegicus (Norway rat)
DOID:0111390
  • mucopolysaccharidosis Ih
  • Aliases:
    • Dysostosis multiplex syndrome
    • Hurler disease MPS type 1H
    • Hurler-Pfaundler syndrome
    • L-iduronidase deficiency, Hurler type
    • MPS1-H
    • Mucopolysaccharidosis type I severe form
    • dysostosis multiplex
    • gargoylism
Mus musculus (house mouse)
DOID:0111390
  • mucopolysaccharidosis Ih
  • Aliases:
    • Dysostosis multiplex syndrome
    • Hurler disease MPS type 1H
    • Hurler-Pfaundler syndrome
    • L-iduronidase deficiency, Hurler type
    • MPS1-H
    • Mucopolysaccharidosis type I severe form
    • dysostosis multiplex
    • gargoylism
Drosophila melanogaster (fruit fly)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Drosophila melanogaster (fruit fly)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Mus musculus (house mouse)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Mus musculus (house mouse)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Homo sapiens (human)
DOID:0111385
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
  • Aliases:
    • IBMPFD1
    • MSP1
    • multisystem proteinopathy 1
Homo sapiens (human)
DOID:0111384
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
  • Aliases:
    • IBMPFD2
    • MSP2
    • multisystem proteinopathy 2
Homo sapiens (human)
DOID:0111381
  • IVIC syndrome
  • Aliases:
    • Instituto Venezolano de Investigaciones Cientificas syndrome
    • OORS
    • Oculootoradial syndrome
    • oculo-oto-radial syndrome
    • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Mus musculus (house mouse)
DOID:0111381
  • IVIC syndrome
  • Aliases:
    • Instituto Venezolano de Investigaciones Cientificas syndrome
    • OORS
    • Oculootoradial syndrome
    • oculo-oto-radial syndrome
    • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Homo sapiens (human)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Rattus norvegicus (Norway rat)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Caenorhabditis elegans
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Homo sapiens (human)
DOID:0111380
  • solitary median maxillary central incisor
  • Aliases:
    • SMMCI
    • fused incisors
    • single central maxillary incisor
    • single median maxillary central incisor
    • single upper central incisor
Mus musculus (house mouse)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024