| Term Name: | Charcot-Marie-Tooth disease type 1A |
|---|---|
| Synonyms: | autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A, Charcot-Marie-Tooth neuropathy type 1A, CMT1A, hereditary motor and sensory neuropathy 1A, HMSN1A, microduplication 17p12 |
| 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). |
| Ontology: | Human Disease [DOID:0110148] ( DOID:0110148 ) |