cardiogenetic disease
MONDO:0100547Mondo
Findings
No curated finding names cardiogenetic disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.
Definition from the Mondo Disease Ontology (MONDO:0100547), 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.
- CACNB2HGNC:1402
- Disputed Evidence · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (73)
- 8q24.3 microdeletion syndrome
- ACTN2-related cardiac and skeletal myopathy
- Alagille syndrome
- alveolar capillary dysplasia with misalignment of pulmonary veins
- atrial septal defect
- autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- cardiac anomalies - developmental delay - facial dysmorphism syndrome
- cardiac valvular dysplasia, X-linked
- CHARGE syndrome
- CHIME syndrome
- COG1-congenital disorder of glycosylation
- congenital alveolar dysplasia due to FGF10
- congenital alveolar dysplasia due to TBX4
- congenital heart defects, multiple types, 2
- congenital heart defects, multiple types, 3
- congenital heart defects, multiple types, 5
- congenital vertebral-cardiac-renal anomalies syndrome
Other names
1 name
Resolves to: cardiogenetic disease
- Also called
- hereditary heart disease