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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, Farber Disease, Farber disease, N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY, N-laurylsphingosine deacylase deficiency, acid ceramidase deficiency,

Xenbase Genes : asah1

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


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

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