| Metadata | |
|---|---|
| ID | DOID:0110179 |
| Name | Charcot-Marie-Tooth disease type 2B2 |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. https://www.ncbi.nlm.nih.gov/pubmed/19290556 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AR-CMT2B2 [EXACT] ARCMT2B [EXACT] autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 [EXACT] Autosomal recessive axonal CMT4C3 [EXACT] Charcot-Marie-Tooth disease neuronal type 2B2 [EXACT] Charcot-Marie-Tooth neuropathy type 2B2 [EXACT] CMT2B2 [EXACT] |
| Parent Relationships |