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Metadata
DOID DOID:14499
Name Fabry 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
Xrefs

CSP2005:1849-9034

GARD:6400

ICD10CM:E75.21

MESH:D000795

MTHICD9_2006:272.7

NCI2004_11_17:C27528

NCI:C84701

OMIM:301500

SNOMEDCT_US_2018_03_01:16652001

UMLS_CUI:C0002986

Subsets

NCIthesaurus

Synonyms

alpha galactosidase deficiency [EXACT]

Alpha-galactosidase A deficiency [EXACT]

Angiokeratoma Corporis Diffusum [EXACT]

deficiency of melibiase [EXACT]

Fabry's disease [EXACT]

Relationships

is_a sphingolipidosis

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