has material basis in germline mutation in PAX6 coloboma visual pathway disorder coloboma of optic nerve https://github.com/monarch-initiative/mondo/issues/4364 https://www.malacards.org/card/coloboma_of_optic_nerve coloboma of optic disc optic nerve coloboma GARD:0001438 coloboma of optic nerve (disease) ICD9:377.23 OMIM:120430 SCTID:17541006 icd11.foundation:592278969 coloboma of optic papilla MONDO:0007354 HP:0000588 DOID:11975 UMLS:C0155299 coloboma of optic nerve (disease) congenital coloboma of the optic nerve MEDGEN:57832 MESH:C535970 Orphanet:98947 hereditary neurological disease