coloboma An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. disease_ontology NCI:C98877 DOID:12270 ORDO:194 MESH:D003103 ORDO:98945 OMIM:216820 SNOMEDCT_US_2020_03_01:93390002 Xref MGI. OMIM mapping confirmed by DO. [SN]. ICD10CM:Q13.0 UMLS_CUI:C0009363 OMIM:120200 GARD:1433 OMIM:120300 coloboInOwlma of eye coloboInOwlma of macula congenital ocular coloboInOwlma eye disease