| Metadata | |
|---|---|
| ID | DOID:0110969 |
| Name | brachydactyly type B1 |
| Definition | A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/10700182, https://www.ncbi.nlm.nih.gov/pubmed/9973295 |
| Xrefs | |
| Synonyms |
BDB1 [EXACT] |
| Parent Relationships |
is_a brachydactyly |