Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FARBER LIPOGRANULOMATOSIS

Synonyms

ACID CERAMIDASE DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/228000

altLabel

ACID CERAMIDASE DEFICIENCY

CERAMIDASE DEFICIENCY

FRBRL

FARBER DISEASE

N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY

AC DEFICIENCY

cui

C0268255

Gene Locus

8p22-p21.3

Gene Symbol

AC

ASAH1

SMAPME

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU041900

http://purl.bioontology.org/ontology/OMIM/MTHU041896

http://purl.bioontology.org/ontology/OMIM/MTHU041894

http://purl.bioontology.org/ontology/OMIM/MTHU041898

http://purl.bioontology.org/ontology/OMIM/MTHU041892

http://purl.bioontology.org/ontology/OMIM/MTHU041890

http://purl.bioontology.org/ontology/OMIM/MTHU001688

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU005336

http://purl.bioontology.org/ontology/OMIM/MTHU000759

http://purl.bioontology.org/ontology/OMIM/MTHU041888

http://purl.bioontology.org/ontology/OMIM/MTHU041897

http://purl.bioontology.org/ontology/OMIM/MTHU041893

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU041891

http://purl.bioontology.org/ontology/OMIM/MTHU041895

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU020645

http://purl.bioontology.org/ontology/OMIM/MTHU041889

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU041899

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

228000

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FARBER LIPOGRANULOMATOSIS

tui

T047

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Delete Mapping To Ontology Source
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/MESH/D055577 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D055577 Medical Subject Headings LOOM