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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
 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
OMIM
PMID:24337657 PMID:24676022 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO OMIM NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 OMIM
ClinVar
PMID:25407000 PMID:25741868 PMID:29575632 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 OMIM
ClinVar
PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 ClinVar
OMIM
PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 OMIM
ClinVar
PMID:11474115 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      megacystis-microcolon-intestinal hypoperistalsis syndrome 6
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 1
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 1
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 1
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Gastrointestinal Diseases 4157
          intestinal disease 2461
            intestinal obstruction 109
              ileus 28
                intestinal pseudo-obstruction 23
                  Familial Visceral Myopathy 9
                    megacystis-microcolon-intestinal hypoperistalsis syndrome 6
                      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
                      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 1
                      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 1
                      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 1
                      Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 1
paths to the root