Term Name: | Charcot-Marie-Tooth disease axonal type 2CC |
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Synonyms: | Charcot-Marie-Tooth neuropathy type 2CC, CMT2CC |
Definition: | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. |
Ontology: | Human Disease [DOID:0110180] ( DOID:0110180 ) |