| Metadata | |
|---|---|
| ID | DOID:0110159 |
| Name | Charcot-Marie-Tooth disease type 2B |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. https://www.ncbi.nlm.nih.gov/pubmed/12545426 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease type 2B [EXACT] Charcot-Marie-Tooth neuropathy type 2B [EXACT] CMT2B [EXACT] hereditary motor and sensory nueropathy IIB [EXACT] HMSN IIB [EXACT] HMSN2B [EXACT] |
| Parent Relationships |