Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


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 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		 OMIM
CTD
ClinVar		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Worth syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                osteosclerosis 59
                  osteopetrosis 29
                    Worth syndrome 1
paths to the root