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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 10
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Accession:DOID:0110346 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: OI, type X;   OI10;   osteogenesis imperfecta type X
 primary_id: MIM:613848
 alt_id: OMIA:001483


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osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serpin family H member 1 susceptibility ISS
ISO		 OMIM:613848
ClinVar Annotator: match by term: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10		 MouseDO
ClinVar
OMIM		 PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 PMID:32161841 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      bone development disease 2373
        osteochondrodysplasia 869
          osteogenesis imperfecta 60
            osteogenesis imperfecta type 10 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              osteochondrodysplasia 869
                osteogenesis imperfecta 60
                  osteogenesis imperfecta type 10 1
paths to the root