developmental cardiac valvular defect

Summary
Definition
A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26.
Super Class
physical disorder
External Links
Disease Ontology
DOID:0080633
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5337 PLD1 phospholipase D1
5338 PLD2 phospholipase D2
The Human Phenotype Ontology
Displaying entries 21 - 25 of 25 in total
HPO ID HPO Term
HP:0001634 Mitral valve prolapse
HP:0004762 Hypoplasia of right ventricle
HP:0000961 Cyanosis
HP:0010446 Tricuspid stenosis
HP:0001704 Tricuspid valve prolapse
Displaying 1 entry
Gene ID Gene Symbol Description
5337 PLD1 phospholipase D1

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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: August 19, 2024