age related macular degeneration 13
MONDO:0014189Mondo
Findings
No curated finding names age related macular degeneration 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.
Definition from the Mondo Disease Ontology (MONDO:0014189), 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.
- CFIHGNC:5394
- Limited · Ambry Genetics · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
6 names
Resolves to: age related macular degeneration 13
- Also called
- age related macular degeneration type 13age-related macular degeneration caused by mutation in CFIARMD13CFI age-related macular degenerationmacular degeneration, age-related, 13, susceptibility tomacular degeneration, age-related, type 13