| Metadata | |
|---|---|
| ID | DOID:0110199 |
| Name | Charcot-Marie-Tooth disease dominant intermediate C |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. https://www.ncbi.nlm.nih.gov/pubmed/16429158 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant intermediate Charcot-Marie-Tooth disease type C [EXACT] Charcot-Marie-Tooth neuropathy dominant intermediate C [EXACT] CMTDIC [EXACT] DI-CMTC [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |