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DO Term : Charcot-Marie-Tooth disease type 2A1 [DOID:0110154] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.

synonyms:
118210,
CMT2A1,
Charcot-Marie-Tooth neuropathy type 2A1,
HMSN IIA1,
hereditary motor and sensory neuropathy IIA1,
ICD10CM:G60.0,
OMIM:118210,
Charcot-Marie-Tooth disease neuronal type 2A1,
ORDO:99946,
autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1,
HMSN2A1

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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