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 4526 - 4550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:11383
  • cryptorchidism
  • Aliases:
    • Cryptorchism
    • Undescended testicle
    • Undescended testis
    • undescended testicles
Mus musculus (house mouse)
DOID:0060774
  • congenital diarrhea
Mus musculus (house mouse)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Mus musculus (house mouse)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Mus musculus (house mouse)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Mus musculus (house mouse)
DOID:0060652
  • familial erythrocytosis 1
  • Aliases:
    • ECYT1
    • autosomal dominant benign erythrocytosis
    • primary familial and congenital polycythemia
Mus musculus (house mouse)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Mus musculus (house mouse)
DOID:6543
  • acne
  • Aliases:
    • Acne varioliformis
    • acne vulgaris
    • frontalis acne
Mus musculus (house mouse)
DOID:0070408
  • Hengel-Maroofian-Schols syndrome
Mus musculus (house mouse)
DOID:3407
  • carotid artery disease
  • Aliases:
    • disorder of carotid artery
Mus musculus (house mouse)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Mus musculus (house mouse)
DOID:1724
  • duodenal ulcer
  • Aliases:
    • Curling Ulcer
    • Curling's ulcers
    • Stress Ulcer
Mus musculus (house mouse)
DOID:9446
  • cholangitis
Mus musculus (house mouse)
DOID:2044
  • drug-induced hepatitis
  • Aliases:
    • Drug-induced chronic hepatitis
Mus musculus (house mouse)
DOID:0060895
  • Parkinson's disease 4
  • Aliases:
    • autosomal dominant Lewy body Parkinson disease 4
    • autosomal dominant Parkinson disease 4
    • autosomal dominant Parkinson's disease 4
Mus musculus (house mouse)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Mus musculus (house mouse)
DOID:2977
  • primary hyperoxaluria
Mus musculus (house mouse)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Mus musculus (house mouse)
DOID:0112181
  • Schinzel type phocomelia
  • Aliases:
    • AARRS
    • Al Awadi-Raas-Rothschild syndrome
    • Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome
    • LPHAS
    • Schinzel phocomelia syndrome
    • absence of ulna and fibula with severe limb deficiency
    • aplasia/hypoplasia of limbs and pelvis
    • congenital absence of ulna and fibula
    • limb/pelvis-hypoplasia/aplasia syndrome
    • severe limb deficit
Mus musculus (house mouse)
DOID:0080056
  • achondrogenesis type II
Mus musculus (house mouse)
DOID:0111136
  • congenital generalized lipodystrophy type 2
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 2
    • Berardinelli-Seip syndrome
    • Brunzell syndrome BSCL2-related
    • CGL2
    • congenital lipoatrophic diabetes
    • total lipodystrophy and acromegaloid gigantism
Mus musculus (house mouse)
DOID:0110214
  • cleft soft palate
  • Aliases:
    • cleft velum
    • cleft velum palatinum
    • soft cleft palate
Mus musculus (house mouse)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Mus musculus (house mouse)
DOID:0080735
  • Ehlers-Danlos syndrome kyphoscoliotic type 2
Mus musculus (house mouse)
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Mus musculus (house mouse)

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Last updated: December 9, 2024