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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;   OMIM:PS249210;   ORDO:2241



show annotations for term's descendants           Sort by:
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:155310
ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
CTD
MouseDO
ClinVar
OMIM
PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... 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
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 PMID:25741868 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:24033266 PMID:25333361 PMID:25741868 PMID:28492532 PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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 ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... 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:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:21521776 More... NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:22001912 PMID:24033266 PMID:25741868 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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:25741868 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 18970
    syndrome 10900
      megacystis-microcolon-intestinal hypoperistalsis syndrome 7
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
        Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 2
        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 18970
    disease of anatomical entity 18265
      gastrointestinal system disease 7103
        intestinal disease 3084
          intestinal obstruction 211
            ileus 32
              intestinal pseudo-obstruction 24
                Familial Visceral Myopathy 9
                  megacystis-microcolon-intestinal hypoperistalsis syndrome 7
                    Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 1
                    Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 2
                    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