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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 4026 - 4050 of 4649 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111789
  • Frank-Ter Haar syndrome
  • Aliases:
    • Borrone dermatocardioskeletal syndrome
    • FTHS
    • Ter Haar syndrome
    • autosomal recessive Melnick-Needles syndrome
    • megalocornea, multiple skeletal anomalies, and developmental delay
Homo sapiens (human)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Homo sapiens (human)
DOID:0111818
  • syndactyly type 4
  • Aliases:
    • Haas type syndactyly
    • SDTY4
    • polysyndactyly, Haas type
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
Homo sapiens (human)
DOID:0110875
  • holoprosencephaly 3
  • Aliases:
    • HLP3
    • HPE3
Homo sapiens (human)
DOID:0080692
  • Noonan syndrome-like disorder with loose anagen hair 1
Homo sapiens (human)
DOID:0080691
  • Noonan syndrome-like disorder with loose anagen hair
Homo sapiens (human)
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Homo sapiens (human)
DOID:0080465
  • developmental and epileptic encephalopathy 30
  • Aliases:
    • DEE30
    • early infantile epileptic encephalopathy 30
Homo sapiens (human)
DOID:0080195
  • Marinesco-Sjogren syndrome
  • Aliases:
    • Garland-Moorhouse syndrome
    • Marinesco-Garland syndrome
    • Oligophrenic cerebellolenticular degeneration
    • hereditary oligophrenic cerebello-lental degeneration
Homo sapiens (human)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Homo sapiens (human)
DOID:0110262
  • cataract 45
  • Aliases:
    • CTRCT45
Homo sapiens (human)
DOID:0110553
  • autosomal dominant nonsyndromic deafness 23
  • Aliases:
    • DFNA23
    • autosomal dominant deafness 23
Homo sapiens (human)
DOID:0111424
  • branchiootorenal syndrome 2
  • Aliases:
    • BOR2
Homo sapiens (human)
DOID:0111416
  • trichohepatoenteric syndrome 2
  • Aliases:
    • THES2
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:0050456
  • Buruli ulcer disease
  • Aliases:
    • Bairnsdale ulcer
    • Daintree ulcer
    • Mossman ulcer
    • Searl ulcer
    • Searle's ulcer
Homo sapiens (human)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Homo sapiens (human)
DOID:0110142
  • Bartter disease type 1
  • Aliases:
    • BARTS1
    • Bartter syndrome type 1
    • Bartter syndrome type 1 antenatal
    • hyperprostaglandin E syndrome 1
    • hypokalemic alkalosis with hypercalciuria 1 antenatal
Homo sapiens (human)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
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:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0050667
  • alcohol-related neurodevelopmental disorder
  • Aliases:
    • ARND
    • static encephalopathy
Homo sapiens (human)
DOID:0080453
  • developmental and epileptic encephalopathy 25
  • Aliases:
    • DEE25
    • developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
    • early infantile epileptic encephalopathy 25
Homo sapiens (human)
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Last updated: February 17, 2025