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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: Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus;   Osteosclerosis of the skull and enlarged mandible;   Osteosclerosis, autosomal dominant Worth type with torus palatinus;   Worth disease;   Worth syndrome;   autosomal dominant endosteal hyperostosis;   autosomal dominant osteosclerosis;   benign form of Worth hyperostosis corticalis generalisata with torus platinus;   benign hyperostosis corticalis generalisata;   endosteal hyperostosis Worth type;   hyperostosis corticalis generalisata congenita
 primary_id: MESH:C536748
 alt_id: DOID:9001208;   MESH:C536527;   OMIM:144750;   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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Worth's syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  osteopetrosis 27
                    Worth's syndrome 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.