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DO Term : Charcot-Marie-Tooth disease type 1B [DOID:0110152] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ).

synonyms:
OMIM:118200,
ORDO:101082,
CMT1B,
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B,
HMSN1B,
peroneal muscular atrophy,
hereditary motor and sensory neuropathy IB,
HMSN IB,
118200,
Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy,
ICD10CM:G60.0,
Charcot-Marie-Tooth neuropathy type 1B

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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