loading...| Preferred Name |
coloboma |
|
| Synonyms |
coloboma of macula |
|
| 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 |
ICD10CM:Q13.0 GARD:1433 ORDO:98945 MESH:D003103 OMIM:120300 OMIM:120200 SNOMEDCT_US_2021_09_01:93390002 OMIM:216820 ORDO:194 NCI:C98877 UMLS_CUI:C0009363 |
|
| 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 macula coloboma of eye congenital ocular coloboma |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
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 |
DOID:12270 |
|
| in_subset | ||
| label |
coloboma |
|
| notation |
DOID:12270 |
|
| prefLabel |
coloboma |
|
| subClassOf |