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DO Term : Charcot-Marie-Tooth disease recessive intermediate B [DOID:0110204] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.

synonyms:
Charcot-Marie-Tooth neuropathy recessive intermediate B,
CMTRIB,
613641,
OMIM:613641,
autosomal recessive intermediate Charcot-Marie-Tooth disease type B,
RI-CMTB,
ICD10CM:G60.0,
ORDO:254334

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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