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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 3
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Accession:DOID:0081366 term browser browse the term
Definition:A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)
Synonyms:exact_synonym: PDB3;   Paget Disease of Bone 3
 primary_id: MIM:167250
 alt_id: DOID:9007946


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                Paget's disease of bone 3 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone remodeling disease 507
              hyperostosis 72
                Paget's disease of bone 20
                  Paget's disease of bone 3 2
paths to the root