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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 1
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Accession:DOID:0110334 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI1;   osteogenesis imperfecta tarda;   osteogenesis imperfecta type 1, mild;   osteogenesis imperfecta type I;   osteogenesis imperfecta with opalescent teeth;   osteogenesis imperfecta, COL1A2-related;   osteogenesis imperfecta, type 1, with dentinogenesis imperfecta;   osteogenesis imperfecta, type 1A;   osteogenesis imperfecta, type I, with dentinogenesis imperfecta
 primary_id: MESH:C536041
 alt_id: OMIM:166200;   RDO:0001455
 xref: GARD:8694;   ORDO:216796
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
RGD:7240710
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:8554872
G Itga3 integrin subunit alpha 3 JBrowse link 10 82,855,841 82,887,755 RGD:8554872
G Pdk2 pyruvate dehydrogenase kinase 2 JBrowse link 10 82,838,270 82,852,758 RGD:8554872
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B JBrowse link 10 82,800,704 82,816,735 RGD:8554872
G Samd14 sterile alpha motif domain containing 14 JBrowse link 10 82,820,457 82,838,046 RGD:8554872
G Sgca sarcoglycan, alpha JBrowse link 10 82,770,905 82,785,142 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    Stomatognathic Diseases 870
      tooth disease 241
        dentinogenesis imperfecta 8
          osteogenesis imperfecta type 1 7
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          mouth disease 680
            tooth disease 241
              Tooth Abnormalities 112
                dentinogenesis imperfecta 8
                  osteogenesis imperfecta type 1 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.