Term Name: brachydactyly type B1
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 )

Relationships
is a type of: brachydactyly