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DO Term : Fabry disease [DOID:14499] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ICD10CM:E75.21,
SNOMEDCT_US_2023_03_01:16652001,
Fabry Disease, Cardiac Variant,
alpha galactosidase deficiency,
Alpha-galactosidase A deficiency,
301500,
UMLS_CUI:C0002986,
deficiency of melibiase,
Angiokeratoma Corporis Diffusum,
NCI:C84701,
MESH:D000795,
GARD:6400,
Fabry's disease,
OMIM:301500

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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