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osteogenesis imperfecta type 22 - Ontology Report - Rat Genome Database

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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 22
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Accession:DOID:9001928 term browser browse the term
Definition:Osteogenesis imperfecta caused by homozygous mutation in the CCDC134 on chromosome 22q13.
Synonyms:exact_synonym: OI22;   osteogenesis imperfecta type XXII
 primary_id: MIM:619795

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osteogenesis imperfecta type 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 22 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII OMIM
ClinVar		 PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          osteogenesis imperfecta 62
            osteogenesis imperfecta type 22 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                osteogenesis imperfecta 62
                  osteogenesis imperfecta type 22 1
paths to the root