Search Ontology:
Human Disease

Farber lipogranulomatosis

Term ID
DOID:0050464
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. https://en.wikipedia.org/wiki/Farber_disease
References
Ontology
Human Disease   ( DOID:0050464 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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