Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

Synonyms: Diffuse angiokeratoma Anderson-Fabry disease Angiokeratoma corporis diffusum Alpha-galactosidase A deficiency FD

This is just here as a test because I lose it

Term information

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UMLS:C0002986
MedDRA:10016016
OMIM:301500
MeSH:D000795
ICD-10:E75.2

notation

ORPHA:324

Term relations

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