"2015-09-21T15:30:41Z"^^ . "GARD:496"^^ . "disease_ontology"^^ . . "DOID:0060383"^^ . "SNOMEDCT_US_2021_09_01:720430002"^^ . . "MESH:C538183"^^ . "ORDO:1788"^^ . "acrofacial dysostosis, syndrome of Rodriguez"@en . "elvira"^^ . "UMLS_CUI:C1860119"^^ . "acrofacial dysostosis Rodriguez type"^^ . "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance."^^ . "OMIM:201170"^^ . . .