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ONTOLOGY REPORT - ANNOTATIONS


Term:familial expansile osteolysis
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Accession:DOID:0111542 term browser browse the term
Definition:A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33. (DO)
Synonyms:exact_synonym: EOF;   FEO;   HEPOD;   McCabe disease;   hereditary expansile polyostotic osteolytic dysplasia
 primary_id: MESH:C536335
 alt_id: OMIM:174810
 xref: GARD:9168;   ORDO:85195
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familial expansile osteolysis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      musculoskeletal system disease 5295
        bone disease 3432
          bone resorption disease 349
            Osteolysis 23
              familial expansile osteolysis 1
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      musculoskeletal system disease 5295
        connective tissue disease 3921
          bone disease 3432
            bone remodeling disease 424
              bone resorption disease 349
                Osteolysis 23
                  familial expansile osteolysis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.