| Metadata | |
|---|---|
| ID | DOID:0110200 |
| Name | Charcot-Marie-Tooth disease dominant intermediate D |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10406984 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant intermediate Charcot-Marie-Tooth disease type D [EXACT] Charcot-Marie-Tooth neuropathy dominant intermediate D [EXACT] CMTDID [EXACT] DI-CMTD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |