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Familial Visceral Myopathy - Ontology Report - Rat Genome Database

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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:Familial Visceral Myopathy
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Accession:DOID:9002025 term browser browse the term
Synonyms:primary_id: MESH:C562574

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Familial Visceral Myopathy 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:22960657 NCBI chrNW_004624749:29,566,613...29,588,572
Ensembl chrNW_004624749:29,566,380...29,588,705 		JBrowse link
autosomal dominant familial visceral neuropathy 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: Pseudoobstruction idiopathic intestinal | ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chrNW_004624749:29,566,613...29,588,572
Ensembl chrNW_004624749:29,566,380...29,588,705 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chrNW_004624807:8,834,462...8,880,048
Ensembl chrNW_004624807:8,833,926...8,881,702 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		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 chrNW_004624842:2,975,992...2,982,956
Ensembl chrNW_004624842:2,975,987...2,982,953 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28602422 NCBI chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		JBrowse link
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 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 OMIM
ClinVar		 PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chrNW_004624749:29,566,613...29,588,572
Ensembl chrNW_004624749:29,566,380...29,588,705 		JBrowse link
G Chrm3 cholinergic receptor muscarinic 3 ISO OMIM:155310 MouseDO NCBI chrNW_004624775:10,948,075...11,427,898
Ensembl chrNW_004624775:10,949,983...10,951,755 		JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chrNW_004624807:8,834,462...8,880,048
Ensembl chrNW_004624807:8,833,926...8,881,702 		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 chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		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 chrNW_004624842:2,975,992...2,982,956
Ensembl chrNW_004624842:2,975,987...2,982,953 		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 chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		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 chrNW_004624912:1,952,053...2,213,196
Ensembl chrNW_004624912:1,953,838...2,172,561 		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 chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		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 chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		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 chrNW_004624807:8,834,462...8,880,048
Ensembl chrNW_004624807:8,833,926...8,881,702 		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 OMIM
ClinVar		 PMID:21293372 PMID:25741868 PMID:33031641 NCBI chrNW_004624842:2,975,992...2,982,956
Ensembl chrNW_004624842:2,975,987...2,982,953 		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: ACTG2-related condition | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 OMIM
ClinVar		 PMID:11474115 PMID:22960657 PMID:23806086 PMID:24088041 PMID:24337657 More... NCBI chrNW_004624749:29,566,613...29,588,572
Ensembl chrNW_004624749:29,566,380...29,588,705 		JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type) OMIM
ClinVar		 PMID:19125351 PMID:19667227 PMID:22176657 PMID:23307888 PMID:24741716 More... NCBI chrNW_004624763:19,362,793...19,391,401
Ensembl chrNW_004624763:19,362,663...19,391,443 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chrNW_004624752:251,670...256,243
Ensembl chrNW_004624752:252,937...256,244 		JBrowse link
Visceral Myopathy 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: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:18391202 More... NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 | ClinVar Annotator: match by term: Visceral myopathy 2 ClinVar PMID:9536098 PMID:17576681 PMID:18391202 PMID:22001912 PMID:24033266 More... NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      nervous system disease 12273
        intestinal pseudo-obstruction 25
          Familial Visceral Myopathy 9
            Visceral Myopathy 2 2
            autosomal dominant familial visceral neuropathy 5
            megacystis-microcolon-intestinal hypoperistalsis syndrome + 7
            mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 14231
    disease of anatomical entity 13933
      gastrointestinal system disease 6063
        intestinal disease 2720
          intestinal obstruction 189
            ileus 32
              intestinal pseudo-obstruction 25
                Familial Visceral Myopathy 9
                  Visceral Myopathy 2 2
                  autosomal dominant familial visceral neuropathy 5
                  megacystis-microcolon-intestinal hypoperistalsis syndrome + 7
                  mitochondrial DNA depletion syndrome 8b 2
paths to the root