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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 2576 - 2600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0110798
  • hereditary spastic paraplegia 46
  • Aliases:
    • SPG46
    • autosomal recessive spastic paraplegia 46
    • autosomal recessive spastic paraplegia type 46
Homo sapiens (human)
DOID:0111916
  • spermatogenic failure 28
  • Aliases:
    • SPGF28
Homo sapiens (human)
DOID:0080872
  • primary ovarian insufficiency 15
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:0112143
  • retinitis pigmentosa 86
  • Aliases:
    • RP86
Homo sapiens (human)
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Homo sapiens (human)
DOID:0081369
  • Paget's disease of bone 6
  • Aliases:
    • Paget disease of bone-6
Homo sapiens (human)
DOID:0111998
  • immunodeficiency 66
  • Aliases:
    • IMD66
Homo sapiens (human)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Homo sapiens (human)
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Homo sapiens (human)
DOID:0070120
  • Meckel syndrome 6
  • Aliases:
    • MKS6
    • Meckel-Gruber syndrome, type 6
Homo sapiens (human)
DOID:0111004
  • Joubert syndrome 9
  • Aliases:
    • JBTS9
Homo sapiens (human)
DOID:0080804
  • cranioectodermal dysplasia 2
Homo sapiens (human)
DOID:0110090
  • short-rib thoracic dysplasia 7 with or without polydactyly
  • Aliases:
    • SRPS5
    • SRTD7
    • short rib-polydactyly syndrome type V
Homo sapiens (human)
DOID:0060848
  • developmental and epileptic encephalopathy 9
  • Aliases:
    • DEE9
    • EFMR
    • EIEE9
    • Juberg Hellman syndrome
    • early infantile epileptic encephalopathy 9
    • early infantile female-limited epilecptic encephalopathy
    • female restricted epilepsy with mental retardation
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:0111479
  • combined oxidative phosphorylation deficiency 8
  • Aliases:
    • COXPD8
Homo sapiens (human)
DOID:0070396
  • progressive leukoencephalopathy with ovarian failure
Homo sapiens (human)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Homo sapiens (human)
DOID:0111315
  • idiopathic generalized epilepsy 14
  • Aliases:
    • EIG14
Homo sapiens (human)
DOID:0070048
  • GAND syndrome
  • Aliases:
    • MRD18
    • autosomal dominant intellectual developmental disorder 18
    • autosomal dominant mental retardation 18
    • autosomal dominant non-syndromic intellectual disability 18
Homo sapiens (human)
DOID:0111341
  • primary failure of tooth eruption
  • Aliases:
    • PFE
    • dental noneruption
    • familial posterior openbite malocclusion
    • nonsyndromic primary failure of eruption
    • primary retention of teeth
    • unerupted second primary molar
Homo sapiens (human)
DOID:0080020
  • Jansen's metaphyseal chondrodysplasia
  • Aliases:
    • Jansen Disease
    • Jansen Metaphyseal Dysostosis
    • Jansen metaphyseal chondrodysplasia
    • Murk Jansen Type Metaphyseal Chondrodysplasia
Homo sapiens (human)
DOID:0060387
  • chondrodysplasia Blomstrand type
  • Aliases:
    • Blomstrand lethal chondrodysplasia
Homo sapiens (human)
DOID:0111732
  • Eiken syndrome
  • Aliases:
    • Eiken skeletal dysplasia
    • bone modeling defect of hands and feet
Homo sapiens (human)
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Last updated: December 9, 2024