Term Name: Farber lipogranulomatosis
Synonyms: acid ceramidase deficiency, Farber disease, N-laurylsphingosine deacylase deficiency
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.
Ontology: Human Disease [DOID:0050464]   ( DOID:0050464 )

Relationships
is a type of: lipid storage disease