omphalocele

Summary
Synonym
  • omphalocoele
Definition
A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac.
Super Class
physical disorder
External Links
Disease Ontology
DOID:0060327
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 29 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
411 ARSB arylsulfatase B
1312 COMT catechol-O-methyltransferase
1836 SLC26A2 solute carrier family 26 member 2
2719 GPC3 glypican 3
2990 GUSB glucuronidase beta
3423 IDS iduronate 2-sulfatase
3955 LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
4952 OCRL OCRL inositol polyphosphate-5-phosphatase
5048 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 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: August 19, 2024