EPHB4-associated vascular malformation spectrum
MONDO:0700080Mondo
Findings
No curated finding names EPHB4-associated vascular malformation spectrum yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.
Definition from the Mondo Disease Ontology (MONDO:0700080), 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.
- EPHB4HGNC:3395
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025