GPR143-related foveal hypoplasia
MONDO:0700230Mondo
Findings
No curated finding names GPR143-related foveal hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene.
Definition from the Mondo Disease Ontology (MONDO:0700230), 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.
- GPR143HGNC:20145
- Definitive · ClinGen · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: GPR143-related foveal hypoplasia
- Also called
- GPR143-related foveal hypoplasia with or without albinism