DO_rare_slim acrofacial dysostosis acrofacial dysostosis Rodriguez type SNOMEDCT_US_2025_09_01:720430002 GARD:496 2015-09-21T15:30:41Z 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. disease_ontology ORDO:1788 DOID:0060383 MIM:201170 MESH:C538183 UMLS_CUI:C1860119 acrofacial dysostosis, syndrome of Rodriguez