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DO Term : Charcot-Marie-Tooth disease type 2DD [DOID:0111558] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.

synonyms:
Charcot-Marie-Tooth disease, axonal, type 2DD,
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2,
ORDO:521414,
ATP1A1-related CMT2,
Charcot-Marie-Tooth neuropathy, type 2DD,
OMIM:618036,
CMT2DD,
618036

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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