Jump to:
loading...| Preferred Name | OGUCHI DISEASE 1 | |
| Synonyms |
CSNBO1 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/258100 |
|
| altLabel |
CSNBO1 NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1 |
|
| cui |
C4551824 |
|
| Gene Locus |
2q37.1 |
|
| Gene Symbol |
RP47 RP96 SAG |
|
| Has manifestation | ||
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
258100 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
OGUCHI DISEASE 1 |
|
| Scope Statement |
Other visual functions, including visual acuity, visual field, and color vision, are usually normal in these patients [MISCELLANEOUS] Caused by mutation in the S-antigen gene (SAG, 181031.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |
Create mapping