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Metadata
ID DOID:12270
Name coloboma
Definition An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.
http://en.wikipedia.org/wiki/Coloboma, http://ghr.nlm.nih.gov/condition/coloboma
Xrefs

GARD:1433

ICD10CM:Q13.0

MESH:D003103

NCI:C98877

OMIM:120200

OMIM:120300

OMIM:216820

ORDO:194

ORDO:98945

SNOMEDCT_US_2023_03_01:93390002

UMLS_CUI:C0009363

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

coloboma of eye [EXACT]

coloboma of macula [EXACT]

congenital ocular coloboma [EXACT]

Parent Relationships

is_a eye disease

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