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 5
go back to main search page
Accession:DOID:0110344 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: OI, TYPE V;   OI5;   osteogenesis imperfecta type V
 primary_id: MESH:C536046;   MESH:C567042
 alt_id: OMIM:610967;   RDO:0001460
 xref: GARD:8699
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO ClinVar Annotator: match by OMIM:610967
ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
OMIM
ClinVar
PMID:22863190, PMID:22863195, PMID:23240094, PMID:23408678, PMID:23674381, PMID:24478195, PMID:24519609, PMID:24674092, PMID:25251575, PMID:25741868, PMID:28492532 NCBI chr 1:213,743,331...213,749,879
Ensembl chr 1:213,744,796...213,745,748
JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:79,736,485...79,801,133
Ensembl chr13:79,736,482...79,801,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 5 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 5 2
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.