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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 20
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Accession:DOID:0111849 term browser browse the term
Definition:An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)
Synonyms:exact_synonym: OI20;   osteogenesis imperfecta type XX
 primary_id: OMIM:618644
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX OMIM
ClinVar
PMID:31564437 NCBI chr 1:146,030,211...146,043,097
Ensembl chr 1:146,037,426...146,043,097
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        osteochondrodysplasia 449
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 20 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              osteochondrodysplasia 449
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 20 1
paths to the root