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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 15926 - 15950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:2565
  • macular corneal dystrophy
  • Aliases:
    • Fehr corneal dystrophy
    • MACULAR DYSTROPHY, CORNEAL, 1
Homo sapiens (human)
DOID:0050812
  • spondyloepimetaphyseal dysplasia, Pakistani type
  • Aliases:
    • spondyloepimetaphyseal dysplasia Pakistani type
Homo sapiens (human)
DOID:14687
  • diastrophic dysplasia
Homo sapiens (human)
DOID:0080055
  • achondrogenesis type IB
  • Aliases:
    • achondrogenesis Fraccaro type
Homo sapiens (human)
DOID:0050648
  • atelosteogenesis
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:0050775
  • schneckenbecken dysplasia
Homo sapiens (human)
DOID:0080520
  • Tn polyagglutination syndrome
  • Aliases:
    • galactosyltransferase deficiency
Homo sapiens (human)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Homo sapiens (human)
DOID:0112361
  • spondylocostal dysostosis 3
  • Aliases:
    • SCDO3
    • autosomal recessive spondylocostal dysostosis 3
Homo sapiens (human)
DOID:0080734
  • Ehlers-Danlos syndrome kyphoscoliotic type 1
Homo sapiens (human)
DOID:14775
  • brittle cornea syndrome 1
  • Aliases:
    • type VIB Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:0060231
  • Bruck syndrome
  • Aliases:
    • osteogenesis imperfecta with congenital joint contractures
Homo sapiens (human)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Homo sapiens (human)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Homo sapiens (human)
DOID:0080567
  • congenital disorder of glycosylation Ip
  • Aliases:
    • congenital disorder of glycosylation 1p
Homo sapiens (human)
DOID:0080568
  • congenital disorder of glycosylation Iq
  • Aliases:
    • congenital disorder of glycosylation 1q
Homo sapiens (human)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:0080570
  • congenital disorder of glycosylation It
  • Aliases:
    • congenital disorder of glycosylation 1t
Homo sapiens (human)
DOID:0070263
  • congenital disorder of glycosylation type IIk
  • Aliases:
    • CDG IIk
    • CDG syndrome type IIk
    • CDG2K
    • CDGIIdk
    • Carbohydrate deficient glycoprotein syndrome type IIk
    • Congenital disorder of glycosylation type 2k
    • TMEM165-CDG
Homo sapiens (human)
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
Homo sapiens (human)
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Homo sapiens (human)
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Last updated: December 9, 2024