| Metadata | |
|---|---|
| ID | DOID:0110198 |
| Name | Charcot-Marie-Tooth disease recessive intermediate C |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/23777631 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive intermediate Charcot-Marie-Tooth disease type C [EXACT] CMTRIC [EXACT] RI-CMT type C [EXACT] RI-CMTC [EXACT] |
| Parent Relationships |