Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal		 CTD
ClinVar
OMIM		 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 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 Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome ClinVar NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		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:25637381 PMID:25741868 PMID:27879251 More... 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:7923625 PMID:9536098 PMID:10199307 PMID:10854329 PMID:14722581 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: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 21089
    syndrome 10784
      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 21089
    disease of anatomical entity 18156
      gastrointestinal system disease 6971
        intestinal disease 3062
          intestinal obstruction 212
            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