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DO Term : Charcot-Marie-Tooth disease axonal type 2C [DOID:0110182] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.

synonyms:
HMSN2C,
autosomal cominant axonal Charcot-Marie-Tooth disease type 2C,
606071,
ORDO:99937,
hereditary motor and sensory neuropathy type IIc,
OMIM:606071,
CMT2C,
autosomal dominant Charcot-Marie-Tooth disease type 2C,
Charcot-Marie-Tooth neuropathy type 2C,
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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