Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. [ Orphanet:333 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050464 (MONDO:equivalentTo)
  • UMLS:C0268255 (Orphanet:333)
  • NCIT:C84710 (MONDO:equivalentTo)
  • ICD9:272.8 (i2s)
  • GARD:0006426 (Orphanet-shared)
  • Orphanet:333 (OMIM:228000)
  • SCTID:79935000 (MONDO:equivalentTo)
  • UMLS:CN204335 (MONDO:equivalentTo)
  • MESH:D055577 (Orphanet:333)
  • ICD10:E75.2 (Orphanet:333)
  • OMIM:228000 (Orphanet:333)
Subsets

ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1412573

definition

Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

exactMatch

http://www.orpha.net/ORDO/Orphanet_333

http://identifiers.org/mesh/C537075

http://identifiers.org/mesh/D055577

http://identifiers.org/snomedct/79935000

http://identifiers.org/omim/228000

http://purl.obolibrary.org/obo/NCIT_C84710

http://purl.obolibrary.org/obo/DOID_0050464

http://linkedlifedata.com/resource/umls/id/CN204335

http://linkedlifedata.com/resource/umls/id/C0268255

http://linkedlifedata.com/resource/umls/id/C2936785

has exact synonym

Farber lipogranulomatosis

N-LAURYLSPHINGOSINE deacylase deficiency

acid ceramidase deficiency

Farber disease

has related synonym

FRBRL

AC deficiency

Farber's disease

N-Laurylsphingosine deacylase deficiency

ceramidase deficiency

id

MONDO:0009218