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DO Term : Charcot-Marie-Tooth disease type 1E [DOID:0110153] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22).

synonyms:
118300,
CMT1E,
ORDO:90658,
Charcot-Marie-Tooth disease and deafness,
ICD10CM:G60.0,
autosomal dominant Charcot-Marie-Tooth neuropathy and deafness,
Charcot-Marie-Tooth disease-deafness,
GARD:9190,
Charcot-Marie-Tooth disease demyelinating type 1E,
OMIM:118300

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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