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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            osteogenesis imperfecta type 6 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Skin and Connective Tissue Diseases 5371
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              osteochondrodysplasia 430
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.