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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;   Osteosclerosis, autosomal dominant Worth type with torus palatinus;   Worth disease;   Worth's syndrome;   autosomal dominant endosteal hyperostosis;   autosomal dominant osteosclerosis;   autosomal dominant osteosclerosis, Worth type;   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;   DOID:9001208;   MESH:C536527;   OMIM:144750;   OMIM:607636
 xref: GARD:390;   ORDO:2790
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:607636
ClinVar Annotator: match by term: Worth disease
OMIM
ClinVar
PMID:10434540, PMID:12015390, PMID:12579474 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Worth syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                osteosclerosis 44
                  osteopetrosis 26
                    Worth 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.