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
• OMIM:607831
• ORDO:101097

Ontology

Human Disease   ( DOID:0110167 )