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DO Term : Charcot-Marie-Tooth disease axonal type 2H [DOID:0110166] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.

synonyms:
Autosomal recessive axonal CMT4C2,
607731,
Axonal Charcot-Marie-Tooth disease with pyramidal involvement,
ICD10CM:G60.0,
CMT2H,
autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features,
OMIM:607731,
ORDO:101102,
Charcot-Marie-Tooth disease type 2H,
AR-CMT2C,
autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features

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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