| Metadata | |
|---|---|
| ID | DOID:0110191 |
| Name | Charcot-Marie-Tooth disease type 4B1 |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). https://www.ncbi.nlm.nih.gov/pubmed/10802647 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1 [EXACT] Charcot-Marie-Tooth neuropathy type 4B1 [EXACT] CMT4B1 [EXACT] |
| Parent Relationships |