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DO Term : Charcot-Marie-Tooth disease recessive intermediate C [DOID:0110198] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36.

synonyms:
CMTRIC,
615376,
autosomal recessive intermediate Charcot-Marie-Tooth disease type C,
ORDO:369867,
RI-CMTC,
OMIM:615376,
RI-CMT type C,
ICD10CM:G60.0

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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