"SNOMEDCT_US_2021_09_01:720958002"^^ . "Borrone dermatocardioskeletal syndrome"^^ . . "DOID:0111789"^^ . "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1."^^ . _:vb50945468 . _:vb50945468 . "OMIM:249420"^^ . . "disease_ontology"^^ . _:vb50945468 . . "Frank-Ter Haar syndrome"^^ . "GARD:5138"^^ . "ORDO:137834"^^ . "megalocornea, multiple skeletal anomalies, and developmental delay"^^ . . "Ter Haar syndrome"^^ . "MESH:C537274"^^ . "FTHS"^^ . "UMLS_CUI:C1855305"^^ . "autosomal recessive Melnick-Needles syndrome"^^ . _:vb50945468 . _:vb50945468 .