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 3526 - 3550 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:14447
  • gonadal dysgenesis
  • Aliases:
    • Gonadal dysgenesis syndrome
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:14450
  • 46 XX gonadal dysgenesis
  • Aliases:
    • ovarian dysgenesis
Homo sapiens (human)
DOID:14451
  • hyperkalemic periodic paralysis
  • Aliases:
    • familial hyperkalemic periodic paralysis
Homo sapiens (human)
DOID:14452
  • hypokalemic periodic paralysis
  • Aliases:
    • Hypokalemic familial periodic paralysis
    • Periodic paralysis I
    • Westphal disease
    • familial hypokalemic periodic paralysis
    • periodic hypokalemic paralysis
Homo sapiens (human)
DOID:14453
  • farmer's lung
  • Aliases:
    • Farmers lung
    • farmer lung
Homo sapiens (human)
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:14498
  • lipoid proteinosis
  • Aliases:
    • Lipid proteinosis
    • URBACH-WIETHE DISEASE
Homo sapiens (human)
DOID:14499
  • Fabry disease
  • Aliases:
    • Alpha-galactosidase A deficiency
    • Angiokeratoma Corporis Diffusum
    • Fabry Disease, Cardiac Variant
    • Fabry's disease
    • alpha galactosidase deficiency
    • deficiency of melibiase
Homo sapiens (human)
DOID:14500
  • fucosidosis
  • Aliases:
    • A-fucosidase deficiency
    • alpha fucosidase deficiency
Homo sapiens (human)
DOID:14501
  • Sjogren-Larsson syndrome
  • Aliases:
    • FALDH deficiency
    • SLS
    • Sjogren Larsson syndrome
    • Sjogren-Larsson's syndrome
    • fatty acid alcohol oxidoreductase deficiency
Homo sapiens (human)
DOID:14502
  • cholesterol ester storage disease
  • Aliases:
    • CESD
    • partial LAL deficiency
    • partial LIPA deficiency
    • partial cholesterol ester hydrolase deficiency
    • partial lysosomal acid lipase deficiency
Homo sapiens (human)
DOID:14503
  • neuronal ceroid lipofuscinosis
  • Aliases:
    • hereditary ceroid lipofuscinosis
Homo sapiens (human)
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Homo sapiens (human)
DOID:14525
  • Reye syndrome
  • Aliases:
    • Reye's syndrome
Homo sapiens (human)
DOID:14550
  • root resorption
Homo sapiens (human)
DOID:14557
  • primary pulmonary hypertension
  • Aliases:
    • Idiopathic pulmonary arterial hypertension
Homo sapiens (human)
DOID:14566
  • disease of cellular proliferation
  • Aliases:
    • cell process disease
    • neoplasm
Homo sapiens (human)
DOID:1459
  • hypothyroidism
  • Aliases:
    • Thyroid deficiency
    • Thyroid insufficiency
Homo sapiens (human)
DOID:14654
  • prostatitis
Homo sapiens (human)
DOID:14669
  • acrodysostosis
Homo sapiens (human)
DOID:14671
  • multiple intestinal atresia
  • Aliases:
    • GIDID
    • Multiple gastrointestinal atresias
    • familial intestinal polyatresia syndrome
    • gastrointestinal defects and immunodeficiency syndrome
Homo sapiens (human)
DOID:14679
  • VACTERL association
Homo sapiens (human)
DOID:14681
  • Silver-Russell syndrome
  • Aliases:
    • Silver Russell Dwarfism
Homo sapiens (human)
DOID:14686
  • Axenfeld-Rieger syndrome
  • Aliases:
    • Anomaly, Rieger's
    • Axenfeld syndrome
    • RGS - Rieger syndrome
    • Rieger's anomaly
Homo sapiens (human)

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Last updated: December 9, 2024