| Metadata | |
|---|---|
| ID | DOID:0110205 |
| Name | Charcot-Marie-Tooth disease dominant intermediate E |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/22187985 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant intermediate Charcot-Marie-Tooth disease type E [EXACT] Charcot-Marie-Tooth disease-nephropathy syndrome [EXACT] Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis [EXACT] CMTDIE [EXACT] |
| Parent Relationships |