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DO Term : Charcot-Marie-Tooth disease type 2A2B [DOID:0111557] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22.

synonyms:
OMIM:617087,
ORDO:90118,
CMT2A2B,
autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type,
AR-CMT2, Ouvrier type,
Charcot-Marie-Tooth disease, axonal, type 2A2B,
SEOAN due to MFN2 deficiency,
617087,
severe early-onset axonal neuropathy due to MFN2 deficiency

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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