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DO Term : sphingolipidosis [DOID:1927] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates.

synonyms:
sphingolipidoses,
ICD10CM:E75.3,
MESH:D013106,
GARD:7672,
SNOMEDCT_US_2023_03_01:58459009,
UMLS_CUI:C0037899,
NCI:C117254

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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