| Metadata | |
|---|---|
| ID | DOID:0110194 |
| Name | Charcot-Marie-Tooth disease type 4B3 |
| Definition | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. https://www.ncbi.nlm.nih.gov/pubmed/23749797 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT4B3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |