Term Name: | brachydactyly type B1 |
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Synonyms: | BDB1 |
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. |
Ontology: | Human Disease [DOID:0110969] ( DOID:0110969 ) |