| Metadata | |
|---|---|
| ID | DOID:0110153 |
| Name | Charcot-Marie-Tooth disease type 1E |
| Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). https://www.ncbi.nlm.nih.gov/pubmed/10330345 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth neuropathy and deafness [EXACT] Charcot-Marie-Tooth disease and deafness [EXACT] Charcot-Marie-Tooth disease demyelinating type 1E [EXACT] Charcot-Marie-Tooth disease-deafness [EXACT] CMT1E [EXACT] |
| Parent Relationships |