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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant endosteal hyperostosis
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Accession:DOID:0111372 term browser browse the term
Definition:An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: autosomal dominant osteosclerosis, Worth type;   endosteal hyperostosis, Worth type;   hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
 primary_id: MESH:C536748
 alt_id: OMIM:144750
 xref: GARD:390;   ORDO:2790
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autosomal dominant endosteal hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      bone development disease 1001
        osteochondrodysplasia 410
          osteosclerosis 44
            autosomal dominant endosteal hyperostosis 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        connective tissue disease 2786
          bone disease 2238
            bone development disease 1001
              osteochondrodysplasia 410
                osteosclerosis 44
                  autosomal dominant endosteal hyperostosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.