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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4176 - 4200 of 5716 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Rattus norvegicus (Norway rat)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Mus musculus (house mouse)
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)
Homo sapiens (human)
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)
Homo sapiens (human)
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)
Homo sapiens (human)
DOID:0111402
  • mucopolysaccharidosis type IIID
  • Aliases:
    • GNS deficiency
    • MPS IIID
    • MPS3D
    • Mucopolysaccharidosis type 3D
    • N-acetylglucosamine-6-sulfatase deficiency
    • Sanfilippo syndrome D
    • Sanfilippo syndrome type D
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:12803
  • mucopolysaccharidosis type VII
  • Aliases:
    • MPS VII - Sly syndrome
    • Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Mus musculus (house mouse)
DOID:12803
  • mucopolysaccharidosis type VII
  • Aliases:
    • MPS VII - Sly syndrome
    • Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Homo sapiens (human)
DOID:12798
  • mucopolysaccharidosis
Homo sapiens (human)
DOID:12798
  • mucopolysaccharidosis
Mus musculus (house mouse)
DOID:12798
  • mucopolysaccharidosis
Caenorhabditis elegans
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Mus musculus (house mouse)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Homo sapiens (human)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Mus musculus (house mouse)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Homo sapiens (human)
DOID:401
  • multidrug-resistant tuberculosis
Homo sapiens (human)
DOID:0050489
  • multinodular goiter
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:4661
  • multiple chemical sensitivity
  • Aliases:
    • 20th century disease
    • chemical AIDS
    • environmental illness
    • idiopathic environmental illness
    • total allergy syndrome
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Drosophila melanogaster (fruit fly)
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