| Metadata | |
|---|---|
| ID | DOID:0110148 |
| Name | Charcot-Marie-Tooth disease type 1A |
| Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). https://www.ncbi.nlm.nih.gov/pubmed/1677316, https://www.ncbi.nlm.nih.gov/pubmed/21326314 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A [EXACT] Charcot-Marie-Tooth neuropathy type 1A [EXACT] CMT1A [EXACT] hereditary motor and sensory neuropathy 1A [EXACT] HMSN1A [EXACT] microduplication 17p12 [EXACT] |
| Parent Relationships |