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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:Bruck Syndrome 2
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Accession:DOID:9002665 term browser browse the term
Synonyms:exact_synonym: BRKS2;   PLOD2-RELATED CONDITION
 xref: MESH:C537407;   MIM:609220;   MONDO:0012217


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Bruck Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bruck syndrome 2 | ClinVar Annotator: match by term: PLOD2-related condition		 OMIM
CTD
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      Bruck syndrome 3
        Bruck Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7807
        connective tissue disease 5958
          bone disease 4411
            bone inflammation disease 1556
              arthropathy 1535
                arthrogryposis multiplex congenita 259
                  Bruck syndrome 3
                    Bruck Syndrome 2 1
paths to the root