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DO Term : Charcot-Marie-Tooth disease axonal type 2CC [DOID:0110180] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12.

synonyms:
OMIM:616924,
616924,
CMT2CC,
Charcot-Marie-Tooth neuropathy type 2CC

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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