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loading...| Preferred Name |
coloboma |
| Synonyms |
coloboma of eye |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. |
| ID |
http://purl.obolibrary.org/obo/DOID_12270 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:1433 ORDO:194 OMIM:120200 ORDO:98945 NCI:C98877 OMIM:216820 UMLS_CUI:C0009363 ICD10CM:Q13.0 OMIM:120300 SNOMEDCT_US_2022_09_01:93390002 MESH:D003103 |
| 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. |
| has exact synonym |
coloboma of eye coloboma of macula congenital ocular coloboma |
| has_obo_namespace |
disease_ontology |
| id |
DOID:12270 |
| in_subset | |
| label |
coloboma |
| notation |
DOID:12270 |
| prefLabel |
coloboma |
| subClassOf |
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