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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 9
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Accession:DOID:0110349 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: OI, Type IX;   OI9;   Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen;   osteogenesis imperfecta type IX
 primary_id: MESH:C564921
 alt_id: OMIM:259440;   RDO:0013718
 xref: GARD:10619
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by OMIM:259440
OMIM
ClinVar
PMID:20089953, PMID:20484404, PMID:21282188, PMID:28492532 NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar PMID:28492532 NCBI chr 8:71,725,405...71,728,729
Ensembl chr 8:71,725,771...71,728,685
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 9 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 9 2
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.