| Metadata | |
|---|---|
| ID | DOID:0110180 |
| Name | Charcot-Marie-Tooth disease axonal type 2CC |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/27040688 |
| Xrefs | |
| Synonyms |
Charcot-Marie-Tooth neuropathy type 2CC [EXACT] CMT2CC [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |