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DO Term : Charcot-Marie-Tooth disease type 2Y [DOID:0110168] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.

synonyms:
autosomal dominant axonal Charcot-Marie-Tooth type 2Y,
CMT2 due to VCP mutation,
Charcot-Marie-Tooth neuropathy type 2Y,
autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation,
CMT2Y,
OMIM:616687,
616687,
ORDO:435387,
ICD10CM:G60.0

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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