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DO Term : Charcot-Marie-Tooth disease axonal type 2Q [DOID:0110170] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.

synonyms:
OMIM:615025,
615025,
ORDO:329258,
autosomal dominant Charcot-Marie-Tooth disease type 2Q,
autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q,
CMT2Q,
Charcot-Marie-Tooth neuropathy type 2Q,
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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