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DO Term : Charcot-Marie-Tooth disease type 1G [DOID:0111560] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13.

synonyms:
PMP2-related Charcot-Marie-Tooth disease type 1,
618279,
PMP2-related CMT1,
PMP2-related hereditary motor and sensory neuropathy type 1,
PMP2-related Charcot-Marie-Tooth neuropathy type 1,
OMIM:618279,
CMT1G,
ORDO:476394

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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