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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
 alt_id: RDO:0012228
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:23806086, PMID:24088041, PMID:24337657, PMID:24676022, PMID:25326635, PMID:25741868, PMID:25998219, PMID:26072522, PMID:26813947, PMID:28422808 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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 CTD Direct Evidence: marker/mechanism CTD
OMIM
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
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:19667227 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
CTD
ClinVar
PMID:10852545, PMID:12529715, PMID:16972839, PMID:19853446, PMID:22977166, PMID:24033266, PMID:25741868, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        intestinal pseudo-obstruction 22
          Familial Visceral Myopathy 6
            autosomal dominant familial visceral neuropathy 1
            megacystis-microcolon-intestinal hypoperistalsis syndrome 3
            mitochondrial DNA depletion syndrome 8b 3
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        Gastrointestinal Diseases 2552
          intestinal disease 1514
            intestinal obstruction 39
              ileus 27
                intestinal pseudo-obstruction 22
                  Familial Visceral Myopathy 6
                    autosomal dominant familial visceral neuropathy 1
                    megacystis-microcolon-intestinal hypoperistalsis syndrome 3
                    mitochondrial DNA depletion syndrome 8b 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.