| Metadata | |
|---|---|
| ID | DOID:0110168 |
| Name | Charcot-Marie-Tooth disease type 2Y |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/25125609 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant axonal Charcot-Marie-Tooth type 2Y [EXACT] autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation [EXACT] Charcot-Marie-Tooth neuropathy type 2Y [EXACT] CMT2 due to VCP mutation [EXACT] CMT2Y [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |