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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: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 the TNFRSF11A gene 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: Familial expansile osteolysis | ClinVar Annotator: match by term: Mccabe disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 More... NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        bone disease 4302
          bone resorption disease 375
            Osteolysis 37
              familial expansile osteolysis 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        connective tissue disease 5786
          bone disease 4302
            bone remodeling disease 495
              bone resorption disease 375
                Osteolysis 37
                  familial expansile osteolysis 1
paths to the root