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Disease Ontology Browser
Farber lipogranulomatosis (DOID:0050464)
Alliance: disease page
Synonyms: acid ceramidase deficiency; Farber disease; N-laurylsphingosine deacylase deficiency
Alt IDs: OMIM:228000, MESH:D055577, NCI:C84710, UMLS_CUI:C0268255
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.

Disease References using Mouse Models (5)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory