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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 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO
IEA
ClinVar Annotator: match by OMIM:613982
ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
OMIM
ClinVar
MouseDO
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13400
    Developmental Diseases 9395
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8206
        genetic disease 7743
          monogenic disease 5664
            osteogenesis imperfecta type 6 1
Path 2
Term Annotations click to browse term
  disease 13400
    disease of anatomical entity 12876
      Skin and Connective Tissue Diseases 5009
        connective tissue disease 3756
          bone disease 3188
            bone development disease 1342
              osteochondrodysplasia 444
                osteogenesis imperfecta 39
                  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.