Terminology Service for NFDI4Health
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Fabry disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010526

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

Term info

Label

Fabry disease

Synonyms
  • Alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • Fabry disease
  • Fabry's disease
  • Fd
  • alpha galactosidase deficiency
  • angiokeratoma corporis diffusum
  • deficiency of melibiase
  • diffuse angiokeratoma
database cross reference
Subsets

ordo_disease, clingen

closeMatch

http://identifiers.org/meddra/10016016

exactMatch

http://identifiers.org/mesh/D000795, http://purl.obolibrary.org/obo/Orphanet_324, http://purl.obolibrary.org/obo/NCIT_C84701, http://identifiers.org/snomedct/16652001, http://linkedlifedata.com/resource/umls/id/C0002986, https://omim.org/entry/301500, http://purl.obolibrary.org/obo/DOID_14499

has related synonym

Fabry disease, Cardiac variant, ceramide trihexosidase deficiency, Gla deficiency, angiokeratoma, diffuse, hereditary dystopic lipidosis

id

MONDO:0010526

narrowMatch

https://icd.codes/icd10cm/E75.2

relatedMatch

http://purl.obolibrary.org/obo/NCIT_C27528