"MESH:C537093"^^ . "UMLS_CUI:C1862103"^^ . "disease_ontology"^^ . "DOID:0110970"^^ . _:vb50944005 . . . "UMLS_CUI:C1300268"^^ . _:vb50944005 . "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."^^ . . "brachydactyly type C"^^ . "GARD:986"^^ . "BDC"@en . "OMIM:113100"^^ . "SNOMEDCT_US_2021_09_01:389169005"^^ . _:vb50944005 . "ORDO:93384"^^ . _:vb50944005 . . _:vb50944005 .