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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:sclerosteosis 1
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Accession:DOID:0060756 term browser browse the term
Definition:A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: SOST1
 primary_id: OMIM:269500
 alt_id: RDO:9003156
 xref: ICD10CM:M85.2
For additional species annotation, visit the Alliance of Genome Resources.


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sclerosteosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by term: Sclerosteosis 1 ClinVar
OMIM
PMID:9712543, PMID:11179006, PMID:11181578, PMID:28492532 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
    syndrome 6992
      chromosomal duplication syndrome 740
        syndactyly 58
          sclerosteosis 2
            sclerosteosis 1 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    sclerosteosis 2
                      sclerosteosis 1 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.