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DO Term : Charcot-Marie-Tooth disease type 4A [DOID:0110185] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21.

synonyms:
MESH:C535419,
Charcot-Marie-Tooth neuropathy type 4A,
CMT4A,
OMIM:214400,
ORDO:99948,
214400,
ICD10CM:G60.0,
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A

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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