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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 5
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Accession:DOID:0081368 term browser browse the term
Definition:A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: Hereditary hyperphosphatasia;   Idiopathic Hyperphosphatasia;   JPD;   PDB5;   Paget Disease of Bone 5, Juvenile-Onset;   Paget disease of bone-5;   chronic congenital idiopathic hyperphosphatasemia;   familial idiopathic hyperphosphatasemia;   familial idiopathic hyperphosphatasia;   familial osteoectasia;   hyperostosis corticalis deformans juvenilis;   hyperphosphatasemia with bone disease;   juvenile Paget disease;   juvenile Paget's disease;   osteochalasia desmalis familiaris;   osteoectasia with hyperphosphatasia
 broad_synonym: elevated alkaline phosphatase
 primary_id: MESH:C537701
 alt_id: DOID:9005421;   MIM:239000
 xref: GARD:2831;   NCI:C131861;   ORDO:2801


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Paget's disease of bone 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC10 collectin subfamily member 10 ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease ClinVar PMID:106682 PMID:12124406 NCBI chr13:18,291,168...18,331,918
Ensembl chr13:18,291,051...18,330,617 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar Annotator: match by term: Paget disease of bone 5 OMIM
ClinVar		 PMID:106682 PMID:12124406 PMID:12189164 PMID:14672344 PMID:19436932 More... NCBI chr13:18,155,765...18,183,263
Ensembl chr13:18,156,367...18,183,444 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15606
    Developmental Disease 13488
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12520
        genetic disease 12171
          monogenic disease 10220
            autosomal genetic disease 9435
              autosomal recessive disease 6583
                Paget's disease of bone 5 2
Path 2
Term Annotations click to browse term
  disease 15606
    disease of anatomical entity 15201
      musculoskeletal system disease 7788
        connective tissue disease 5316
          bone disease 3860
            bone remodeling disease 294
              hyperostosis 61
                Paget's disease of bone 20
                  Paget's disease of bone 5 2
paths to the root