Medical Subject Headings

Last uploaded: November 5, 2019
Preferred Name

Farber Lipogranulomatosis

Synonyms

Diseases, Farber's

Definitions

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.

ID

http://purl.bioontology.org/ontology/MESH/D055577

altLabel

Diseases, Farber's

Ceramidase Deficiency, Acid

Ceramidase Deficiencies

Farber's Diseases

N Laurylsphingosine Deacylase Deficiency

Deficiencies, N-Laurylsphingosine Deacylase

Deficiencies, Ceramidase

Disease, Farber's

Lipogranulomatosis, Farber

Ceramidase Deficiency

Deficiency, Ceramidase

N-Laurylsphingosine Deacylase Deficiency

Deficiency, N-Laurylsphingosine Deacylase

N-Laurylsphingosine Deacylase Deficiencies

Farber Disease

Acid Ceramidase Deficiency

Deficiency, Acid Ceramidase

Acid Ceramidase Deficiencies

Farber's Disease

Farbers Disease

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

cui

C0268255

DC

1

definition

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.

DX

20090101

HN

2009

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D009542

http://purl.bioontology.org/ontology/MESH/D052516

http://purl.bioontology.org/ontology/MESH/D012618

http://purl.bioontology.org/ontology/MESH/D007965

http://purl.bioontology.org/ontology/MESH/D005776

http://purl.bioontology.org/ontology/MESH/D000795

http://purl.bioontology.org/ontology/MESH/D005733

Machine permutation

2009

MDA

20080708

MMR

20130708

MN

C16.320.565.398.641.803.325

C18.452.648.595.554.825.250

C18.452.132.100.435.825.250

C10.228.140.163.100.435.825.250

C16.320.565.189.435.825.250

C18.452.648.398.641.803.325

C16.320.565.595.554.825.250

C18.452.584.687.803.325

C18.452.648.189.435.825.250

notation

D055577

prefLabel

Farber Lipogranulomatosis

TERMUI

T714821

T714822

T714834

T833796

T833797

T833795

TH

NLM (2009)

ORD (2010)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D013106

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http://purl.bioontology.org/ontology/OMIM/613468 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/MTHU041892 Online Mendelian Inheritance in Man CUI
http://purl.obolibrary.org/obo/DOID_0050464 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84710 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/228000 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/228000 Online Mendelian Inheritance in Man LOOM