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loading...| Preferred Name |
Coloboma of optic nerve |
|
| Synonyms |
Congenital coloboma of the optic nerve |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535970 |
|
| altLabel |
Congenital coloboma of the optic nerve Optic nerve coloboma Optic nerve head pits, bilateral congenital |
|
| cui |
C0155299 |
|
| Has mapping qualifier | ||
| HM |
D009900/Q000002 D003103 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
49 |
|
| MMR |
20150818 |
|
| notation |
C535970 |
|
| prefLabel |
Coloboma of optic nerve |
|
| SC |
3 |
|
| Scope Statement |
A coloboma similar to autosomal dominant ocular coloboma (OMIM: 120200) both eyes are usually affected and it is frequently associated with detachment of the MACULA LUTEA and RETINA. Mutations in the PAX6 gene have been identified in some cases. OMIM: 120430 |
|
| TERMUI |
T737835 T737832 T737834 T737833 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
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