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DO Term : Niemann-Pick disease [DOID:14504] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.

synonyms:
lipoid histiocytosis,
sphingomyelin lipidosis,
GARD:13334,
NCI:C61269,
DOID:0050442,
SNOMEDCT_US_2023_03_01:58459009,
UMLS_CUI:C0028064,
DOID:14770,
Sphingomyelinase Deficiency Disease,
DOID:0050443,
MESH:D009542,
ICD10CM:E75.24

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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