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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 16
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Accession:DOID:0110345 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. (DO)
Synonyms:exact_synonym: OI16;   chromosome 11p11.2 deletion syndrome 91.3-KB;   osteogenesis imperfecta type XVI
 primary_id: OMIM:616229
 alt_id: RDO:9002967
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l1 cAMP responsive element binding protein 3-like 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi ClinVar
OMIM
PMID:25741868, PMID:29936144 NCBI chr 3:80,892,433...80,933,283
Ensembl chr 3:80,892,435...80,933,283
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          osteogenesis imperfecta 38
            osteogenesis imperfecta type 16 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                osteogenesis imperfecta 38
                  osteogenesis imperfecta type 16 1
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.