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DO Term : Charcot-Marie-Tooth disease type 2R [DOID:0110161] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q.

synonyms:
ICD10CM:G60.0,
autosomal recessive axonal Charcot-Marie-Tooth disease type 2R,
615490,
CMT2R,
Charcot-Marie-Tooth neuropathy type 2R,
OMIM:615490,
ORDO:397968

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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