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DO Term : Charcot-Marie-Tooth disease type 1A [DOID:0110148] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).

synonyms:
Charcot-Marie-Tooth neuropathy type 1A,
OMIM:118220,
GARD:1245,
ORDO:101081,
ICD10CM:G60.0,
CMT1A,
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A,
microduplication 17p12,
HMSN1A,
118220,
hereditary motor and sensory neuropathy 1A

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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