OBO ID: DOID:0050464
Term Name: Farber lipogranulomatosis Search Ontology:
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 )
OTHER Farber lipogranulomatosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ASAH1 Farber lipogranulomatosis 228000
ZEBRAFISH MODELS
Fish Conditions Citations
asah1af24/f24; asah1bf25/f25 standard conditions Zhang et al., 2019
PHENOTYPE No data available

CITATIONS (1)