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
Fish Conditions Citations
glahuh1/huh1 standard conditions Elsaid et al., 2022
PHENOTYPE No data available

CITATIONS (1)
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