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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 2C
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Accession:DOID:9002369 term browser browse the term
Synonyms:exact_synonym: Osteogenesis Imperfecta, Type 2C;   Osteogenesis Imperfecta, Type IIC
 primary_id: RDO:9000752

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osteogenesis imperfecta type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    Developmental Disease 12567
      bone development disease 2210
        osteochondrodysplasia 836
          osteogenesis imperfecta 59
            osteogenesis imperfecta type 2 3
              osteogenesis imperfecta type 2C 1
Path 2
Term Annotations click to browse term
  disease 14315
    disease of anatomical entity 14022
      musculoskeletal system disease 7447
        connective tissue disease 5104
          bone disease 3727
            bone development disease 2210
              osteochondrodysplasia 836
                osteogenesis imperfecta 59
                  osteogenesis imperfecta type 2 3
                    osteogenesis imperfecta type 2C 1
paths to the root