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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 OMIM
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      bone development disease 1760
        osteochondrodysplasia 605
          osteogenesis imperfecta 40
            osteogenesis imperfecta type 8 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Skin and Connective Tissue Diseases 6546
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              osteochondrodysplasia 605
                osteogenesis imperfecta 40
                  osteogenesis imperfecta type 8 1
paths to the root