Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:oculopharyngeal muscular dystrophy
go back to main search page
Accession:DOID:11719 term browser browse the term
Definition:An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.
Synonyms:exact_synonym: OPMD;   Oculopharyngeal Dystrophy;   Oculopharyngeal Muscular Dystrophies;   Progressive Muscular Dystrophy, Oculopharyngeal Type
 primary_id: MESH:D039141;   RDO:0001902
 alt_id: OMIM:164300
 xref: NCI:C84942
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
oculopharyngeal muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp12 LDL receptor related protein 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31332380 NCBI chr 7:78,859,784...78,930,850
Ensembl chr 7:78,859,784...78,930,832
JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy
ClinVar Annotator: match by OMIM:164300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:12823221 PMID:16239242 PMID:16648376 PMID:25728001 NCBI chr15:33,555,640...33,560,251
Ensembl chr15:33,555,640...33,560,242
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 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        muscular disease 1218
          atrophic muscular disease 332
            muscular dystrophy 330
              oculopharyngeal muscular dystrophy 5
                mitochondrial DNA depletion syndrome 8b 3
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    muscular dystrophy 330
                      oculopharyngeal muscular dystrophy 5
                        mitochondrial DNA depletion syndrome 8b 3
paths to the root