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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:SOST-related sclerosing bone dysplasia
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Accession:DOID:0080036 term browser browse the term
Definition:A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)
Synonyms:exact_synonym: VBCH;   endosteal hyperostosis, autosomal recessive;   hyperostosis corticalis generalisata;   hyperphosphatasemia tarda;   van Buchem disease
 primary_id: OMIM:239100
 alt_id: RDO:9002944
For additional species annotation, visit the Alliance of Genome Resources.


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SOST-related sclerosing bone dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO OMIM NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        bone disease 3528
          bone remodeling disease 428
            hyperostosis 42
              SOST-related sclerosing bone dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                SOST-related sclerosing bone dysplasia 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.