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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 ISO OMIM NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    Developmental Diseases 8921
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7781
        genetic disease 7335
          monogenic disease 5405
            osteogenesis imperfecta type 6 1
Path 2
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      Skin and Connective Tissue Diseases 4781
        connective tissue disease 3582
          bone disease 3059
            bone development disease 1298
              osteochondrodysplasia 419
                osteogenesis imperfecta 36
                  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.