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Pathways

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: MESD-RELATED CONDITION;   OI20;   osteogenesis imperfecta type XX
 primary_id: MIM:618644



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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: MESD-related condition | ClinVar Annotator: match by term: Osteogenesis imperfecta, type 20 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31564437 PMID:33596325 NCBI chr 1:147,275,904...147,289,134
Ensembl chr 1:147,275,396...147,289,134
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        osteochondrodysplasia 839
          osteogenesis imperfecta 65
            osteogenesis imperfecta type 20 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              osteochondrodysplasia 839
                osteogenesis imperfecta 65
                  osteogenesis imperfecta type 20 1
paths to the root