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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:Paget's disease of bone 6
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Accession:DOID:0081369 term browser browse the term
Definition:A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: PDB6;   Paget Disease of Bone 6
 primary_id: OMIM:616833
 alt_id: DOID:9001120


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Paget's disease of bone 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp687 zinc finger protein 687 ISO ClinVar Annotator: match by term: Paget disease of bone 6 OMIM
ClinVar		 PMID:15123951 PMID:22936311 PMID:25741868 PMID:26849110 PMID:28492532 More... NCBI chr 2:182,572,893...182,581,641
Ensembl chr 2:182,572,662...182,583,647 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                Paget's disease of bone 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone remodeling disease 495
              hyperostosis 62
                Paget's disease of bone 20
                  Paget's disease of bone 6 1
paths to the root