. "MESH:C536958"^^ . "UMLS_CUI:C1854466"^^ . _:vb50937641 . _:vb50937641 . "ORDO:363417"^^ . . "2013-12-05T12:12:10Z"^^ . "OMIM:605282"^^ . "PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE"@en . _:vb50937641 . "DOID:0050814"^^ . "GARD:9679"^^ . "temtamy preaxial brachydactyly syndrome"^^ . _:vb50937641 . . "disease_ontology"^^ . "lschriml"^^ . . "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."^^ . _:vb50937641 . "SNOMEDCT_US_2021_09_01:777998000"^^ .