| Metadata | |
|---|---|
| ID | DOID:0110975 |
| Name | brachydactyly type B2 |
| Definition | A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. https://www.ncbi.nlm.nih.gov/pubmed/17668388 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
BDB2 [EXACT] |
| Parent Relationships |
is_a brachydactyly |