. _:vb50942287 . "ICD10CM:Q76.4"^^ . . "OMIM:272460"^^ . "DOID:0090116"^^ . "disease_ontology"^^ . _:vb50942287 . "GARD:4974"^^ . _:vb50942287 . "spondylocarpotarsal syndrome"@en . . "spondylocarpotarsal synostosis"@en . _:vb50942286 . "congenital scoliosis with unilateral unsegmented bar"@en . _:vb50942286 . _:vb50942286 . . "spondylocarpotarsal synostosis syndrome"^^ . . "vertebral fusion with carpal coalition"@en . "ORDO:3275"^^ . _:vb50942286 . _:vb50942287 . "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."^^ . "SCT"@en . _:vb50942286 . _:vb50942287 . "congenital synspondylism"@en .