atrial heart septal defect 4

Summary
Synonym
  • ASD4
  • atrial septal defect 4
Definition
An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene.
Super Class
atrial heart septal defect
Disease Ontology
DOID:0110109
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57246 Tbx20 T-box 20
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0001962 Palpitations
HP:0001633 Abnormal mitral valve morphology
HP:0002326 Transient ischemic attack
HP:0001279 Syncope
HP:0002092 Pulmonary arterial hypertension
HP:0002875 Exertional dyspnea
HP:0001653 Mitral regurgitation
HP:0000961 Cyanosis
HP:0001708 Right ventricular failure
HP:0002094 Dyspnea
Displaying 1 entry
Gene ID Gene Symbol Description
70 ACTC1 actin alpha cardiac muscle 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024