Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   NCI:C131133;   OMIM:PS269500
For additional species annotation, visit the Alliance of Genome Resources.


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 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link
G Sost sclerostin ISO DNA:transition: :69C>T (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:11179006 RGD:68858 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
JBrowse link
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
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 ClinVar Annotator: match by OMIM:614305
ClinVar Annotator: match by term: Sclerosteosis 2
OMIM
ClinVar
PMID:7891385 PMID:11385236 PMID:21471202 PMID:24234652 PMID:28492532 NCBI chr 3:80,362,643...80,416,684
Ensembl chr 3:80,362,858...80,416,679
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      chromosomal duplication syndrome 750
        syndactyly 60
          sclerosteosis 2
            sclerosteosis 1 1
            sclerosteosis 2 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        connective tissue disease 4357
          bone disease 3042
            bone development disease 1372
              dysostosis 380
                synostosis 228
                  syndactyly 60
                    sclerosteosis 2
                      sclerosteosis 1 1
                      sclerosteosis 2 1
paths to the root