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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:osteogenesis imperfecta type 5
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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 More... NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232
JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      bone development disease 1414
        osteochondrodysplasia 478
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 5 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              osteochondrodysplasia 478
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 5 2
paths to the root