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DO Term : Farber lipogranulomatosis [DOID:0050464] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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:
228000,
OMIM:228000,
GARD:6426,
SNOMEDCT_US_2023_03_01:79935000,
NCI:C84710,
N-laurylsphingosine deacylase deficiency,
UMLS_CUI:C0268255,
MESH:D055577,
acid ceramidase deficiency,
Farber disease

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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