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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:oculopharyngeal muscular dystrophy
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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;   OPMD1;   oculopharyngeal dystrophy;   oculopharyngeal muscular dystrophies;   oculopharyngeal muscular dystrophy 1;   progressive muscular dystrophy, oculopharyngeal type
 primary_id: MESH:D039141
 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 low density lipoprotein-related protein 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31332380 NCBI chr15:39,733,985...39,807,417
Ensembl chr15:39,733,985...39,807,390 		JBrowse link
G Pabpn1 poly(A) binding protein, nuclear 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy		 OMIM
CTD
ClinVar		 PMID:12823221 PMID:16239242 PMID:16648376 PMID:25728001 PMID:25741868 NCBI chr14:55,131,600...55,136,384
Ensembl chr14:55,129,957...55,135,626 		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 M2 B (TP53 inducible) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)		 OMIM
CTD
ClinVar		 PMID:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr15:89,255,834...89,261,282
Ensembl chr15:89,256,134...89,261,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      musculoskeletal system disease 7928
        muscular disease 2167
          muscle tissue disease 1313
            myopathy 1029
              muscular dystrophy 601
                oculopharyngeal muscular dystrophy 4
                  mitochondrial DNA depletion syndrome 8b 2
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        peripheral nervous system disease 4111
          neuropathy 3911
            neuromuscular disease 3075
              muscular disease 2167
                muscle tissue disease 1313
                  atrophic muscular disease 605
                    muscular dystrophy 601
                      oculopharyngeal muscular dystrophy 4
                        mitochondrial DNA depletion syndrome 8b 2
paths to the root