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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 4201 - 4225 of 5716 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:0112213
  • multiple congenital anomalies-hypotonia-seizures syndrome 4
  • Aliases:
    • DEE77
    • GPIBD19
    • MCAHS4
    • developmental and epileptic encephalopathy 77
    • early infantile epileptic encephalopathy 77
    • glycosylphosphatidylinositol biosynthesis defect 19
Homo sapiens (human)
DOID:0050792
  • multiple cutaneous and mucosal venous malformations
  • Aliases:
    • VMCM
    • cutaneomucosal venous malformation
    • mucocutaneous venous malformations
Homo sapiens (human)
DOID:0050430
  • multiple endocrine neoplasia type 2A
  • Aliases:
    • MEN2A
    • Sipple syndrome
    • multiple endocrine neoplasia II
Homo sapiens (human)
DOID:10016
  • multiple endocrine neoplasia type 2B
  • Aliases:
    • MEN type IIB
    • MEN2B
    • Multiple endocrine neoplasia, type 3
    • Wagenmann-Froboese syndrome
    • mucosal neuroma syndrome
Homo sapiens (human)
DOID:10016
  • multiple endocrine neoplasia type 2B
  • Aliases:
    • MEN type IIB
    • MEN2B
    • Multiple endocrine neoplasia, type 3
    • Wagenmann-Froboese syndrome
    • mucosal neuroma syndrome
Mus musculus (house mouse)
DOID:0080137
  • multiple endocrine neoplasia type 4
  • Aliases:
    • Multiple Endocrine Neoplasia, Type IV
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Rattus norvegicus (Norway rat)
DOID:0070303
  • multiple epiphyseal dysplasia 1
  • Aliases:
    • EDM1
    • MED1
    • multiple epiphyseal dysplasia COMP-related
    • polyepiphyseal dysplasia type 1
Homo sapiens (human)
DOID:0070298
  • multiple epiphyseal dysplasia 2
  • Aliases:
    • EDM2
Homo sapiens (human)
DOID:0070304
  • multiple epiphyseal dysplasia 3
  • Aliases:
    • EDM3
    • multiple epiphyseal dysplasia 3 with or without myopathy
Homo sapiens (human)
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
Homo sapiens (human)
DOID:0070299
  • multiple epiphyseal dysplasia 5
  • Aliases:
    • BHMED
    • EDM5
    • bilateral hereditary microepiphyseal dysplasia
    • multiple epiphyseal dysplasia MATN3-related
Mus musculus (house mouse)
DOID:0070299
  • multiple epiphyseal dysplasia 5
  • Aliases:
    • BHMED
    • EDM5
    • bilateral hereditary microepiphyseal dysplasia
    • multiple epiphyseal dysplasia MATN3-related
Homo sapiens (human)
DOID:0070301
  • multiple epiphyseal dysplasia 6
  • Aliases:
    • EDM6
Homo sapiens (human)
DOID:0070302
  • multiple epiphyseal dysplasia 7
  • Aliases:
    • EDM7
Homo sapiens (human)
DOID:0111348
  • multiple epiphyseal dysplasia with myopia and deafness
  • Aliases:
    • EDMMD
    • multiple epiphyseal dysplasia, Beighton type
    • multiple epiphyseal dysplasia-myopia-deafness syndrome
Homo sapiens (human)
DOID:12721
  • multiple epiphyseal dysplasia
  • Aliases:
    • polyepiphyseal dysplasia
Mus musculus (house mouse)
DOID:14671
  • multiple intestinal atresia
  • Aliases:
    • GIDID
    • Multiple gastrointestinal atresias
    • familial intestinal polyatresia syndrome
    • gastrointestinal defects and immunodeficiency syndrome
Homo sapiens (human)
DOID:0080133
  • multiple mitochondrial dysfunctions syndrome 1
  • Aliases:
    • NFU1 deficiency
Homo sapiens (human)
DOID:0080135
  • multiple mitochondrial dysfunctions syndrome 3
  • Aliases:
    • IBA57 deficiency
Homo sapiens (human)
DOID:0080136
  • multiple mitochondrial dysfunctions syndrome 4
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:9538
  • multiple myeloma
  • Aliases:
    • myeloma
Homo sapiens (human)
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Last updated: April 7, 2025