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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: MESH:C563597;   OMIM:155310;   OMIM:602715
 xref: NCI:C98982;   ORDO:2241
For additional species annotation, visit the Alliance of Genome Resources.

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megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD
PMID:24337657 PMID:24676022 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Lmod1 leiomodin 1 ISO OMIM NCBI chr13:52,147,099...52,189,835
Ensembl chr13:52,147,555...52,190,228
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      gastrointestinal system disease 4655
        Gastrointestinal Diseases 2583
          intestinal disease 1536
            intestinal obstruction 107
              ileus 27
                intestinal pseudo-obstruction 22
                  Familial Visceral Myopathy 6
                    megacystis-microcolon-intestinal hypoperistalsis syndrome 3
paths to the root