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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.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by OMIM:613982
ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
OMIM
ClinVar
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            osteogenesis imperfecta type 6 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                osteogenesis imperfecta 38
                  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.