AIPL1-related retinopathy
MONDO:0100438Mondo
Findings
No curated finding names AIPL1-related retinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A retinopathy caused by biallelic variants in the AIPL1 gene.
Definition from the Mondo Disease Ontology (MONDO:0100438), read 2026-09-29. CC BY 4.0.
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.
- AIPL1HGNC:359
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: AIPL1-related retinopathy
- Also called
- AIPL1 retinopathy