Charcot-Marie-Tooth disease recessive intermediate D

Definition

Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.

Also known as autosomal recessive intermediate Charcot-Marie-Tooth disease type D, Charcot-Marie-Tooth disease caused by mutation in COX6A1, Charcot-Marie-Tooth disease recessive intermediate type D, Charcot-Marie-Tooth disease, recessive Intermediate type D, CMTRID, COX6A1 Charcot-Marie-Tooth disease, RI-CMT type D — per MONDO

Also identified as

• DOID 0110203 per MONDO
• OMIM 616039 per MONDO
• Orphanet 435998 per MONDO
• UMLS C5569027 per MONDO