Oguchi disease-1
MONDO:0009775Mondo
Findings
No curated finding names Oguchi disease-1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene.
Definition from the Mondo Disease Ontology (MONDO:0009775), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Early-onset non-progressive night blindnessHPOHP:0007642
- 6 of 6 reported patients
- Mizuo phenomenonHPOHP:0030824
- 6 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAGHGNC:10521
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: Oguchi disease-1
- Also called
- CSNBO1Oguchi disease caused by mutation in SAGOguchi disease type 1SAG Oguchi disease