| Metadata | |
|---|---|
| ID | DOID:0110209 |
| Name | Charcot-Marie-Tooth disease X-linked dominant 1 |
| Definition | A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. https://www.ncbi.nlm.nih.gov/pubmed/8266101 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Charcot-Marie-Tooth neuropathy X-linked dominant 1 [EXACT] CMT1X [EXACT] CMTX1 [EXACT] X-linked Charcot-Marie-Tooth disease type 1 [EXACT] |
| Parent Relationships |