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Summary Literature (0)
DOID:0050464 - Farber lipogranulomatosis

Disease Ontology Definition:A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.

Synonyms: acid ceramidase deficiency, Acid Ceramidase Deficiency, Farber disease, Farber Disease, N-laurylsphingosine deacylase deficiency, N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY

Xenbase Genes : asah1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009218 - Farber lipogranulomatosis

MIM:
MIM:228000 - FARBER LIPOGRANULOMATOSIS; FRBRL

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): lipid storage disease (is_a)