Link to this page
Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C564835
http://purl.bioontology.org/ontology/MESH/C564835
|
|---|---|
| Preferred Name | Enhanced S-Cone Syndrome |
| Synonyms |
Goldmann-Favre Syndrome
Favre Hyaloideoretinal Degeneration
Retinoschisis with Early Hemeralopia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Goldmann-Favre Syndrome
Favre Hyaloideoretinal Degeneration
Retinoschisis with Early Hemeralopia
|
|---|---|
| prefLabel | Enhanced S-Cone Syndrome
|
| Scope Statement | An autosomal recessive retinopathy in which patients have increased sensitivity to blue light due to an increase in the number of CONE PHOTORECEPTORS for short wavelength light. Affected individuals experience visual loss, with early onset NIGHT BLINDNESS, varying degrees of L (long, red)- and M (middle, green)-cone vision, and minimal to severe retinal degeneration. Goldmann-Favre syndrome is the severe form of retinal degeneration. Mutations in the NR2E3 gene have been identified. OMIM: 268100
|
| type | |
| tui | T047
|
| HM |
D014786
D012162
D015785
|
| SC | 3
|
| TERMUI |
T801421
T830188
T805701
T805703
|
| TH | OMIM (2013)
|
| MMR | 20150818
|
| notation | C564835
|
| Semantic type UMLS property | |
| cui |
C1849394
C0339541
|
| MeSH Frequency | 59
|
| DSC | 20121105
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20121105
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |