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GENE - TERM ANNOTATION REPORT

RGD ID: 12354057
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: MYO15A
Name: myosin XVA
Acc ID: DOID:3827
Term: congenital diaphragmatic hernia
Definition: A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia "DO" "DO", http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
MYO15A ISOMYO15A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Agenesis of hemidiaphragmPMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532
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