OBO ID: DOID:14499
Term Name: Fabry disease Search Ontology:
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 Fabry disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GLA Fabry disease 301500
Fabry disease, cardiac variant 301500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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