Charcot-Marie-Tooth disease axonal type 2K

Term ID

DOID:0110167

Synonyms

ARCMT2K
autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K
autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
autosomal recessive axonal CMT4C4
autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Charcot-Marie-Tooth neuropathy axonal type 2K

Definition

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. https://www.ncbi.nlm.nih.gov/pubmed/12707075

References

ICD10CM:G60.0
MIM:607831
ORDO:101097

Ontology

Human Disease ( DOID:0110167 )

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