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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:Choristoma
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Accession:DOID:9000660 term browser browse the term
Definition:A mass of histologically normal tissue present in an abnormal location.
Synonyms:exact_synonym: Aberrant Tissue;   Aberrant Tissues;   Choristomas;   Ectopic Tissue;   Ectopic Tissues;   Heterotopic Tissue;   Heterotopic Tissues
 xref: MESH:D002828


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Choristoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Ectopic tissue ClinVar PMID:9489699 PMID:9489700 PMID:9536098 PMID:9618162 PMID:9668176 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ectopic tissue ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13535
      Anatomical Pathological Conditions 2745
        Choristoma 2
          Bilateral Choroidal Osteoma 0
          Dermoids of Cornea 0
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