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



show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type | ClinVar Annotator: match by term: Worth disease OMIM
ClinVar
PMID:1002767 PMID:10434540 PMID:11701785 PMID:11719191 PMID:11883972 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 18246
    syndrome 9798
      Worth syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      musculoskeletal system disease 7303
        connective tissue disease 5158
          bone disease 3832
            bone development disease 1904
              osteochondrodysplasia 631
                osteosclerosis 54
                  osteopetrosis 26
                    Worth syndrome 1
paths to the root