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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 6
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Accession:DOID:0110350 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)
Synonyms:exact_synonym: OI, type VI;   OI6;   osteogenesis imperfecta, type VI
 primary_id: MESH:C536047;   MESH:C567041
 alt_id: OMIM:613982
 xref: GARD:8700
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINF1 serpin family F member 1 IAGP ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI ClinVar
OMIM
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    Developmental Diseases 12132
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9981
        genetic disease 9460
          monogenic disease 6898
            osteogenesis imperfecta type 6 1
Path 2
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      Skin and Connective Tissue Diseases 5710
        connective tissue disease 4260
          bone disease 3638
            bone development disease 1485
              osteochondrodysplasia 507
                osteogenesis imperfecta 43
                  osteogenesis imperfecta type 6 1
paths to the root

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