Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
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, N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY, Farber disease, N-laurylsphingosine deacylase deficiency, acid ceramidase deficiency

Echinobase Genes : asah1, asah1


MIM:
MIM:228000 - farber lipogranulomatosis

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)