Term Name: | Charcot-Marie-Tooth disease recessive intermediate D |
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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 ) |