| Metadata | |
|---|---|
| ID | DOID:0111558 |
| Name | Charcot-Marie-Tooth disease type 2DD |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. https://www.ncbi.nlm.nih.gov/pubmed/29499166 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 [EXACT] ATP1A1-related CMT2 [EXACT] Charcot-Marie-Tooth disease, axonal, type 2DD [EXACT] Charcot-Marie-Tooth neuropathy, type 2DD [EXACT] CMT2DD [EXACT] |
| Parent Relationships |