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DO Term : Charcot-Marie-Tooth disease axonal type 2K [DOID:0110167] 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 GDAP1 gene on chromosome 8q.

synonyms:
ORDO:101097,
Charcot-Marie-Tooth neuropathy axonal type 2K,
OMIM:607831,
607831,
autosomal recessive Charcot-Marie-Tooth disease with hoarseness,
ARCMT2K,
autosomal recessive axonal CMT4C4,
autosomal recessive axonal Charcot-Marie-Tooth disease type 2K,
ICD10CM:G60.0,
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K

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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