Search Ontology:
Human Disease

Fabry disease

Term ID
DOID:14499
Synonyms
  • alpha galactosidase deficiency
  • Alpha-galactosidase A deficiency
  • Angiokeratoma Corporis Diffusum
  • deficiency of melibiase
  • Fabry Disease, Cardiac Variant
  • Fabry's disease
Definition
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. https://ghr.nlm.nih.gov/condition/fabry-disease
References
Ontology
Human Disease   ( DOID:14499 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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