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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: alpha galactosidase deficiency deficiency of melibiase Angiokeratoma Corporis Diffusum Alpha-galactosidase A deficiency Fabry's disease

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS_CUI
  • NCI
  • OMIM:301500
  • ICD10CM
  • MESH
  • GARD
  • SNOMEDCT_US_2019_09_01
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:14499

Term relations

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