Disease-gene associations mined from literature

Human genes for Farber lipogranulomatosis

Farber lipogranulomatosis [DOID:0050464]

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:  Farber lipogranulomatosis,  DOID:0050464,  Farber lipogranulomatosises,  Farber disease,  N-laurylsphingosine deacylase deficiency ...

Linkouts:  OMIM