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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 15
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Accession:DOID:0110347 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: OI, TYPE XV;   OI15;   osteogenesis imperfecta type XV
 primary_id: OMIM:615220
 alt_id: RDO:9000869
For additional species annotation, visit the Alliance of Genome Resources.



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osteogenesis imperfecta type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 ClinVar PMID:25741868 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 OMIM
ClinVar
PMID:22653731 PMID:23434763 PMID:23499309 PMID:23499310 PMID:23656646 More... NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      bone development disease 1876
        osteochondrodysplasia 615
          osteogenesis imperfecta 43
            osteogenesis imperfecta type 15 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Skin and Connective Tissue Diseases 6745
        connective tissue disease 5121
          bone disease 3801
            bone development disease 1876
              osteochondrodysplasia 615
                osteogenesis imperfecta 43
                  osteogenesis imperfecta type 15 2
paths to the root