congenital diaphragmatic hernia

Summary
Synonym
  • 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.
Super Class
diaphragm disease physical disorder
Disease Ontology
DOID:3827
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
745 MYRF myelin regulatory factor
5358 PLS3 plastin 3
8854 ALDH1A2 aldehyde dehydrogenase 1 family member A2
158326 FREM1 FRAS1 related extracellular matrix 1
Displaying all 8 entries
Gene ID Gene Symbol Description Source
11819 Nr2f2 nuclear receptor subfamily 2, group F, member 2
14463 Gata4 GATA binding protein 4
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
16971 Lrp1 low density lipoprotein receptor-related protein 1
18595 Pdgfra platelet derived growth factor receptor, alpha polypeptide
20564 Slit3 slit guidance ligand 3
102866 Pls3 plastin 3 (T-isoform)
329872 Frem1 Fras1 related extracellular matrix protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24182 Agtr2 angiotensin II receptor, type 2

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Last updated: April 7, 2025