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RGD uses the Human Disease Ontology (DO, 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:Worth 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;   Worth disease;   Worth's syndrome;   autosomal dominant endosteal hyperostosis;   autosomal dominant osteosclerosis;   autosomal dominant osteosclerosis, Worth type;   autosomal dominant osteosclerosis, Worth type with torus palatinus;   benign form of Worth hyperostosis corticalis generalisata with torus platinus;   benign hyperostosis corticalis generalisata;   endosteal hyperostosis, Worth type;   hyperostosis corticalis generalisata congenita;   osteosclerosis of the skull and enlarged mandible
 primary_id: MESH:C536748
 alt_id: DOID:0111372;   MESH:C536527;   OMIM:144750
 xref: GARD:390;   ORDO:2790

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Worth syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Endosteal hyperostosis, autosomal dominant | ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Osteosclerosis of the skull and enlarged mandible | ClinVar Annotator: match by term: Worth disease
PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21121
    syndrome 10792
      Worth syndrome 1
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      musculoskeletal system disease 8248
        connective tissue disease 5728
          bone disease 4240
            bone development disease 2277
              osteochondrodysplasia 855
                osteosclerosis 58
                  osteopetrosis 29
                    Worth syndrome 1
paths to the root