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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta type 3
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Accession:DOID:0110339 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI, type III;   OI3;   osteogenesis imperfecta type III;   progressively deforming osteogenesis imperfecta with normal sclera;   progressively deforming osteogenesis imperfecta with normal sclerae
 narrow_synonym: osteogenesis imperfecta, type III, COL1A1-related
 broad_synonym: osteogenesis imperfecta, type III/IV
 primary_id: MESH:C536044
 alt_id: OMIA:002126;   OMIM:259420;   RDO:0001458
 xref: GARD:8695
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 3 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:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          osteogenesis imperfecta 35
            osteogenesis imperfecta type 3 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteogenesis imperfecta 35
                  osteogenesis imperfecta type 3 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.