Charcot-Marie-Tooth disease recessive intermediate D

Term ID

DOID:0110203

Synonyms

• autosomal recessive intermediate Charcot-Marie-Tooth disease type D
• CMTRID
• RI-CMT type D

Definition

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25152455

References

• ICD10CM:G60.0
• OMIM:616039
• ORDO:435998

Ontology

Human Disease   ( DOID:0110203 )