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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 Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by OMIM:615220
ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv
OMIM
ClinVar
PMID:23434763, PMID:23499309, PMID:23499310, PMID:25741868, PMID:29481978 NCBI chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046
JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chr 7:140,448,284...140,466,159
Ensembl chr 7:140,448,465...140,454,268
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      bone development disease 1330
        osteochondrodysplasia 435
          osteogenesis imperfecta 38
            osteogenesis imperfecta type 15 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                osteogenesis imperfecta 38
                  osteogenesis imperfecta type 15 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.