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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:C567042
 alt_id: OMIM:610967
 xref: GARD:8699

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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 term: Osteogenesis imperfecta type 5 OMIM
ClinVar		 PMID:22863190 PMID:22863195 PMID:23977282 PMID:24478195 PMID:24519609 More... NCBI chrNW_004936888:160,734...161,960
Ensembl chrNW_004936888:160,531...161,899 		JBrowse link
G Pgghg protein-glucosylgalactosylhydroxylysine glucosidase ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 ClinVar PMID:22863190 PMID:22863195 PMID:23977282 PMID:25251575 PMID:25741868 More... NCBI chrNW_004936888:152,919...158,549
Ensembl chrNW_004936888:152,873...158,560 		JBrowse link
G Suco SUN domain containing ossification factor ISO OMIM:610967 MouseDO NCBI chrNW_004936481:14,823,622...14,892,312
Ensembl chrNW_004936481:14,823,253...14,892,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        osteochondrodysplasia 832
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 5 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              osteochondrodysplasia 832
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 5 3
paths to the root