| Metadata | |
|---|---|
| ID | DOID:0110156 |
| Name | Charcot-Marie-Tooth disease type 2B1 |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. https://www.ncbi.nlm.nih.gov/pubmed/11799477 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 [EXACT] autosomal recessive axonal CMT4C1 [EXACT] autosomal recessive Charcot-Marie-Tooth disease type 2B1 [EXACT] Charcot-Marie-Tooth disease neuronal type 2B1 [EXACT] Charcot-Marie-Tooth neuropathy type 2B1 [EXACT] CMT2B1 [EXACT] |
| Parent Relationships |