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loading...| Preferred Name |
Oguchi disease |
|
| Synonyms |
Oguchi Disease 1 Stationary night blindness, Oguchi type |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537743 |
|
| altLabel |
Oguchi Disease 1 Stationary night blindness, Oguchi type |
|
| cui |
C1306122 C4551824 |
|
| HM |
D015785 D009755 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
42 |
|
| MMR |
20190401 |
|
| notation |
C537743 |
|
| prefLabel |
Oguchi disease |
|
| SC |
3 |
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| Scope Statement |
A congenital form of static night blindness; all other visual functions, including visual acuity, visual field, and color vision, are usually normal. It is also characterized by diffuse yellow or gray coloration of the fundus. After 2 or 3 hours in total darkness, the normal color of the fundus returns. Oguchi Disease-1 is associated with mutations in the SAG gene. OMIM: 258100 |
|
| TERMUI |
T743614 T802452 T743615 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
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