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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
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Accession:DOID:0060251 term browser browse the term
Definition:A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO)
Synonyms:exact_synonym: Cortical hyperostosis with syndactyly;   SOST
 primary_id: MESH:C537525
 alt_id: RDO:0003382
 xref: GARD:4771;   MIM:PS269500;   NCI:C131133


show annotations for term's descendants           Sort by:
sclerosteosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:25741868 PMID:28492532 PMID:11179006 RGD:68858 NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
sclerosteosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO
ISS 		OMIM:269500
ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1 		OMIM
MouseDO
ClinVar		 PMID:11179006 PMID:11181578 PMID:19072561 PMID:20301406 PMID:21221996 More... NCBI chr10:87,412,722...87,415,766
Ensembl chr10:87,411,721...87,415,766 		JBrowse link
sclerosteosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp4 LDL receptor related protein 4 ISO
ISS 		OMIM:614305
ClinVar Annotator: match by term: Sclerosteosis 2 		OMIM
MouseDO
ClinVar		 PMID:7891385 PMID:9536098 PMID:11385236 PMID:17576681 PMID:21471202 More... NCBI chr 3:97,885,373...97,939,366
Ensembl chr 3:97,885,400...97,939,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        bone disease 2876
          bone remodeling disease 461
            hyperostosis 45
              sclerosteosis 2
                sclerosteosis 1 1
                sclerosteosis 2 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              dysostosis 301
                synostosis 197
                  syndactyly 68
                    sclerosteosis 2
                      sclerosteosis 1 1
                      sclerosteosis 2 1
paths to the root