syndromic congenital heart disease
MONDO:0100614Mondo
Findings
No curated finding names syndromic congenital heart disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions.
Definition from the Mondo Disease Ontology (MONDO:0100614), 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.
- PCSK5HGNC:8747
- Disputed Evidence · ClinGen · Autosomal dominant · 2025