Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 OMIM:613848
ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar Annotator: match by term: OI, TYPE X
OMIM
ClinVar
PMID:20188343, PMID:25510505, PMID:25741868, PMID:28492532 NCBI chr 1:164,301,010...164,308,306
Ensembl chr 1:164,301,010...164,308,317
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 10 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 10 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.