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:osteogenesis imperfecta type 10
go back to main search page
Accession:DOID:0110346 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: OI, type X;   OI10;   osteogenesis imperfecta type X
 primary_id: OMIM:613848
 alt_id: OMIA:001483
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 OMIM
ClinVar
PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      bone development disease 1876
        osteochondrodysplasia 615
          osteogenesis imperfecta 43
            osteogenesis imperfecta type 10 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                osteogenesis imperfecta 43
                  osteogenesis imperfecta type 10 1
paths to the root