Disease association ontology term - MONDO:0014467 - Charcot-Marie-Tooth disease recessive intermediate D

Term summary

ID

MONDO:0014467

Name

Charcot-Marie-Tooth disease recessive intermediate D

Ontology or CV name

Disease association

Definition

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

Parents

• is_a mitochondrial oxidative phosphorylation disorder
• is_a autosomal recessive intermediate Charcot-Marie-Tooth disease

Annotation