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DO Term : Charcot-Marie-Tooth disease type 2J [DOID:0110157] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

synonyms:
Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities,
Charcot-Marie-Tooth neuropathy type 2J,
OMIM:607736,
ORDO:99943,
ICD10CM:G60.0,
CMT2J,
607736

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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