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Standards Ontologies Notations
megacystis-microcolon-intestinal hypoperistalsis syndrome

Summary
Synonym
  • Berdon syndrome
  • Megacystis microcolon intestinal hypoperistalsis syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
  • visceral myopathy
Definition
A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis.
Super Class
syndrome
Disease Ontology
DOID:0060610
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1131 CHRM3 cholinergic receptor muscarinic 3
4629 MYH11 myosin heavy chain 11
4638 MYLK myosin light chain kinase
10398 MYL9 myosin light chain 9
25802 LMOD1 leiomodin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12671 Chrm3 cholinergic receptor, muscarinic 3, cardiac
Displaying 1 entry
Gene ID Gene Symbol Description Source
24260 Chrm3 cholinergic receptor, muscarinic 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
37892 mAChR-A muscarinic Acetylcholine Receptor, A-type
Displaying 1 entry
Gene ID Gene Symbol Description Source
179962 gar-3 Muscarinic acetylcholine receptor gar-3
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024