Terminology Service for NFDI4Health
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
Instance info
Synonyms
N-Laurylsphingosine Deacylase Deficiency, N Laurylsphingosine Deacylase Deficiency, Ceramidase Deficiency, Ceramidase Deficiency, Acid, Lipogranulomatosis, Farber, N-Laurylsphingosine Deacylase Deficiencies, Farber-Krankheit (DE), Farber's Disease, Farber's Diseases, Deficiencies, Ceramidase, Deficiencies, N-Laurylsphingosine Deacylase, Ceramidase Deficiencies, Deficiency, Ceramidase, Acid Ceramidase Deficiency, Farber Disease, Fabersche Lipogranulomatose (DE), Farbers Disease, Diseases, Farber's, Deficiency, Acid Ceramidase, Ceramidasemangel (DE), Disease, Farber's, Deficiency, N-Laurylsphingosine Deacylase, Acid Ceramidase Deficiencies
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
20090101
HN
2009
MDA
20080708
MMR
20130708
MN
C16.320.565.189.435.825.250,C18.452.584.687.803.325,C18.452.648.189.435.825.250,C10.228.140.163.100.435.825.250,C18.452.648.398.641.803.325,C16.320.565.398.641.803.325,C16.320.565.595.554.825.250,C18.452.648.595.554.825.250,C18.452.132.100.435.825.250
PM
2009
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D000795,http://purl.bioontology.org/ontology/MESH/D009542,http://purl.bioontology.org/ontology/MESH/D012618,http://purl.bioontology.org/ontology/MESH/D005776,http://purl.bioontology.org/ontology/MESH/D052516,http://purl.bioontology.org/ontology/MESH/D007965,http://purl.bioontology.org/ontology/MESH/D005733
TERMUI
T833797,T833796,T714821,T714822,T714834,T833795
TH
GHR (2014),ORD (2010),NLM (2009)
cui
C0268255
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types