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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/608415
http://purl.bioontology.org/ontology/OMIM/608415
|
|---|---|
| Preferred Name | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 1 |
| Synonyms |
BRADYOPSIA 1
PERRS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
BRADYOPSIA 1
PERRS1
|
|---|---|
| prefLabel | PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 1
|
| Gene Symbol |
RGS9
PERRS1
|
| Scope Statement | Onset in early childhood [MISCELLANEOUS]
Absence of nystagmus [MISCELLANEOUS]
Caused by mutation in regulator of G-protein signaling 9 gene (RGS9, 604067.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T033
|
| Gene Locus | 17q23-q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 608415
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5829874
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |