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DO Term : Charcot-Marie-Tooth disease recessive intermediate A [DOID:0110201] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.

synonyms:
ORDO:217055,
CMTRIA,
autosomal recessive intermediate Charcot-Marie-Tooth disease type A,
OMIM:608340,
608340,
RI-CMTA,
Charcot-Marie-Tooth neuropathy recessive intermediate A,
MESH:C564256

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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