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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:174810
ClinVar Annotator: match by term: Familial expansile osteolysis
OMIM
ClinVar
PMID:7911698 PMID:10615125 PMID:12362049 PMID:12568416 PMID:17447113 PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        bone disease 2997
          bone resorption disease 350
            Osteolysis 23
              familial expansile osteolysis 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone remodeling disease 432
              bone resorption disease 350
                Osteolysis 23
                  familial expansile osteolysis 1
paths to the root