Term Name: Charcot-Marie-Tooth disease recessive intermediate D
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.
Ontology: Human Disease [DOID:0110203]   ( DOID:0110203 )

Relationships
is a type of: autosomal recessive disease Charcot-Marie-Tooth disease intermediate type