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Metadata
ID DOID:0050464
Name Farber lipogranulomatosis
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
Xrefs

MESH:D055577

NCI:C84710

OMIM:228000

SNOMEDCT_US_2018_03_01:79935000

UMLS_CUI:C0268255

Subsets

NCIthesaurus

Synonyms

acid ceramidase deficiency [EXACT]

Farber disease [EXACT]

N-laurylsphingosine deacylase deficiency [EXACT]

Parent Relationships

is_a lipid storage disease

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