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DO Term : Charcot-Marie-Tooth disease axonal type 2O [DOID:0110175] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

synonyms:
OMIM:614228,
autosomal dominant axonal Charcot-Marie-Tooth disease type 2O,
ORDO:284232,
autosomal dominant Charcot-Marie-Tooth disease type 2O,
614228,
Charcot-Marie-Tooth neuropathy axonal type 2O,
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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