Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and papillorenal syndrome. An important gene associated with Coloboma of Macula is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are Ectoderm differentiation and Mesodermal commitment pathway. Affiliated tissues include eye and retina, and related phenotypes are macular coloboma and growth/size/body region