"disease_ontology"^^ . "DOID:0111809"^^ . "MESH:C537465"^^ . _:vb50945515 . _:vb50945515 . _:vb50945515 . . "syndromic microphthalmia type 2"^^ . "ORDO:2712"^^ . . "OMIM:300166"^^ . "microphthalmia cataracts radiculomegaly and septal heart defects"^^ . "SNOMEDCT_US_2021_09_01:699300009"^^ . "UMLS_CUI:C1846265"^^ . "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4."^^ . "syndromic microphthalmia 2"^^ . "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome"^^ . . "OFCD syndrome"^^ . "MCOPS2"^^ . _:vb50945515 . _:vb50945515 . . "oculofaciocardiodental syndrome"^^ . "ANOP2"^^ . "GARD:4628"^^ . "MAA2"^^ .