Charcot-Marie-Tooth disease axonal type 2T

Term ID

DOID:0110160

Synonyms

AR-CMT2T
autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth neuropathy type 2T
CMT2T

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. https://www.ncbi.nlm.nih.gov/pubmed/26991897

References

ICD10CM:G60.0
MIM:617017
ORDO:443950

Ontology

Human Disease ( DOID:0110160 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 2

autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 2 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models