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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 2
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Accession:DOID:0060757 term browser browse the term
Definition:A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: SOST2
 primary_id: OMIM:614305
 alt_id: RDO:9001066
 xref: ORDO:3152
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      chromosomal duplication syndrome 746
        syndactyly 59
          sclerosteosis 2
            sclerosteosis 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              dysostosis 337
                synostosis 227
                  syndactyly 59
                    sclerosteosis 2
                      sclerosteosis 2 1
paths to the root