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DO Term : Niemann-Pick disease type C1 [DOID:0070113] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2.

synonyms:
257220,
ICD10CM:E75.2,
NPC1,
GARD:7207,
OMIM:257220

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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