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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 14
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Accession:DOID:0110343 term browser browse the term
Definition:An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: OI, type XIV;   OI14;   osteogenesis imperfecta type XIV
 primary_id: OMIM:615066


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osteogenesis imperfecta type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiv
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17611541 PMID:23054245 PMID:25741868 PMID:26911354 PMID:28492532 NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        genetic disease 13024
          monogenic disease 10419
            osteogenesis imperfecta type 14 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 14 1
paths to the root