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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 8
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Accession:DOID:0110336 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)
Synonyms:exact_synonym: OI, TYPE VIII;   OI8;   osteogenesis imperfecta type VIII
 primary_id: MESH:C536049
 alt_id: OMIM:610915
 xref: GARD:10152


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osteogenesis imperfecta type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:610915
ClinVar Annotator: match by term: OI type VIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 8		 OMIM
CTD
MouseDO
ClinVar		 PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      bone development disease 2303
        osteochondrodysplasia 860
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 8 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 8 1
paths to the root