ONTOLOGY REPORT - ANNOTATIONS


Term:megacystis-microcolon-intestinal hypoperistalsis syndrome
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Accession:DOID:0060610 term browser browse the term
Definition:A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)
Synonyms:exact_synonym: Berdon syndrome;   MMIH;   VSCM;   idiopathic intestinal pseudoobstruction;   infantile visceral myopathy;   megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH;   megaduodenum and/or megacystis;   visceral myopathy
 primary_id: MESH:C536138
 alt_id: DOID:9004554;   MESH:C563597;   OMIM:155310;   OMIM:602715;   RDO:0001590;   RDO:0012817;   RDO:0015944
 xref: ORDO:2241
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megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg2 actin gamma 2, smooth muscle JBrowse link 4 115,215,160 115,239,746 RGD:8554872
RGD:11554173
RGD:7240710
G Chrm3 cholinergic receptor, muscarinic 3 JBrowse link 17 63,990,599 64,463,222 RGD:13592920
G Lmod1 leiomodin 1 JBrowse link 13 52,147,099 52,189,835 RGD:7240710

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Path 1
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  disease 14875
    syndrome 4220
      megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Path 2
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  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        Gastrointestinal Diseases 2349
          intestinal disease 1304
            intestinal obstruction 31
              ileus 22
                intestinal pseudo-obstruction 18
                  Familial Visceral Myopathy 3
                    megacystis-microcolon-intestinal hypoperistalsis syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.