ONTOLOGY REPORT - ANNOTATIONS


Term:Worth's syndrome
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Accession:DOID:0080037 term browser browse the term
Definition:A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)
Synonyms:exact_synonym: Endosteal Hyperostosis, Autosomal Dominant;   Endosteal hyperostosis Worth type;   Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus;   Hyperostosis corticalis generalisata congenita;   Osteosclerosis of the skull and enlarged mandible;   Osteosclerosis, Autosomal Dominant;   Osteosclerosis, autosomal dominant Worth type with torus palatinus;   VBCH2;   Van Buchem disease type 2;   Worth syndrome;   autosomal dominant endosteal hyperostosis;   autosomal dominant osteosclerosis;   benign form of Worth hyperostosis corticalis generalisata with torus platinus;   benign hyperostosis corticalis generalisata
 primary_id: MESH:C536748
 alt_id: DOID:9001208;   MESH:C536527;   OMIM:144750;   OMIM:607636;   RDO:0002138;   RDO:0002424
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Worth's syndrome 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
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      Worth's syndrome 1
Path 2
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  disease 14920
    disease of anatomical entity 14086
      Skin and Connective Tissue Diseases 3927
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              osteochondrodysplasia 406
                osteosclerosis 43
                  osteopetrosis 27
                    Worth's syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.