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Charcot-Marie-Tooth Disease Axonal Type 2T (MONDO:0014866)

A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.

Overview

Category

Ontology ID

Internal:15848

Synonyms

CMT2T

Charcot-Marie-Tooth disease, axonal, type 2T

DNAJB2-related CMT2

AR-CMT2T

Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T

Charcot-Marie-Tooth neuropathy, type 2T

DNAJB2-related Charcot-Marie-Tooth disease type 2

autosomal recessive axonal Charcot-Marie-Tooth disease type 2T

Mapped terms

DOID:0110160

GARD:0018653

MEDGEN:864072

OMIM:616233

OMIM:617017

Orphanet:443950

UMLS:C4015635

Child terms

Unknown children.