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DO Term : Charcot-Marie-Tooth disease type 2E [DOID:0110165] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.

synonyms:
Charcot-Marie-Tooth neuropathy type 2E,
ORDO:99939,
CMT2E,
OMIM:607684,
ICD10CM:G60.0,
autosomal dominant Charcot-Marie-Tooth disease type 2E,
607684

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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