Term Name: | Charcot-Marie-Tooth disease type 1A |
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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 ) |