| Metadata | |
|---|---|
| ID | DOID:0110204 |
| Name | Charcot-Marie-Tooth disease recessive intermediate B |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. https://www.ncbi.nlm.nih.gov/pubmed/20920668 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive intermediate Charcot-Marie-Tooth disease type B [EXACT] Charcot-Marie-Tooth neuropathy recessive intermediate B [EXACT] CMTRIB [EXACT] RI-CMTB [EXACT] |
| Parent Relationships |