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Standards Ontologies Notations
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
External Links
Disease Ontology
DOID:3827
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 37 in total
Gene ID Gene Symbol Description Source
3356 HTR2A 5-hydroxytryptamine receptor 2A
3383 ICAM1 intercellular adhesion molecule 1
3481 IGF2 insulin like growth factor 2
3482 IGF2R insulin like growth factor 2 receptor
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
5373 PMM2 phosphomannomutase 2
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6440 SFTPC surfactant protein C
6441 SFTPD surfactant protein D
7108 TM7SF2 transmembrane 7 superfamily member 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
15531 Ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
15558 Htr2a 5-hydroxytryptamine (serotonin) receptor 2A
16002 Igf2 insulin-like growth factor 2
21926 Tnf tumor necrosis factor
Displaying all 4 entries
Gene ID Gene Symbol Description Source
24483 Igf2 insulin-like growth factor 2
24835 Tnf tumor necrosis factor
29595 Htr2a 5-hydroxytryptamine receptor 2A
29633 Ndst1 N-deacetylase and N-sulfotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38736 sfl sulfateless
Displaying all 2 entries
Gene ID Gene Symbol Description Source
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
177675 hst-1 Heparan sulfate N-sulfotransferase 1
Related Glycoprotein
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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