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ONTOLOGY REPORT - ANNOTATIONS


Term:osteogenesis imperfecta
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Accession:DOID:12347 term browser browse the term
Definition:COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.
Synonyms:exact_synonym: Fragilitas Ossium;   Lobstein Disease;   Lobstein's Disease;   Lobstein's syndrome;   Lobsteins Disease;   OI, TYPE I;   OI1;   Ossiums, Fragilitas;   Vrolik's disease;   brittle bone disease;   osteogenesis imperfecta with blue sclerae;   osteopsathyrosis
 narrow_synonym: OSTEOGENESIS IMPERFECTA, RECESSIVE;   mild osteogenesis imperfecta;   osteopenic nonfracture syndrome
 primary_id: MESH:D010013
 alt_id: OMIA:000754;   OMIA:002112;   RDO:0000490
 xref: GARD:1017;   ICD9CM:756.51;   NCI:C26837;   NCI:C99003;   OMIM:PS166200;   ORDO:666
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:734802
RGD:8554872
RGD:11667068
RGD:11667066
RGD:11667065
RGD:11571620
RGD:11571617
RGD:11571614
RGD:11554173
RGD:8552657
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:1581197
RGD:8554872
RGD:13592920
RGD:11667066
RGD:734804
RGD:7248772
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:11554173
RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:12792279
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:11554173
RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:8554872
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:8554872
G Smad4 SMAD family member 4 JBrowse link 18 69,626,682 69,657,373 RGD:13592920
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:8554872
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:11554173
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:8554872
Bruck syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:13592920
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:13592920
Bruck Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
RGD:7240710
Bruck Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 JBrowse link 8 99,977,334 100,059,736 RGD:7240710
RGD:8554872
Cole-Carpenter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:11554173
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:11554173
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P4hb prolyl 4-hydroxylase subunit beta JBrowse link 10 109,736,459 109,748,070 RGD:7240710
RGD:8554872
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sec24d SEC24 homolog D, COPII coat complex component JBrowse link 2 227,455,704 227,562,801 RGD:7240710
RGD:8554872
gnathodiaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570566
RGD:11570556
OI/EDS Combined Syndrome 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
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 Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 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
osteogenesis imperfecta type 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinh1 serpin family H member 1 JBrowse link 1 164,301,010 164,308,306 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G Sp7 Sp7 transcription factor JBrowse link 7 143,957,316 143,967,488 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:7240710
RGD:8554872
G Sftpc surfactant protein C JBrowse link 15 52,211,538 52,214,480 RGD:8554872
osteogenesis imperfecta type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem38b transmembrane protein 38B JBrowse link 5 70,639,156 70,675,055 RGD:7240710
osteogenesis imperfecta type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:7240710
RGD:8554872
G Wnt10b Wnt family member 10B JBrowse link 7 140,448,284 140,466,159 RGD:8554872
osteogenesis imperfecta type 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Creb3l1 cAMP responsive element binding protein 3-like 1 JBrowse link 3 80,892,433 80,933,283 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tent5a terminal nucleotidyltransferase 5A JBrowse link 8 92,935,474 92,942,267 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:8554872
RGD:7240710
osteogenesis imperfecta type 2 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
osteogenesis imperfecta type 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mesd mesoderm development LRP chaperone JBrowse link 1 146,030,211 146,043,097 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 2C 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
osteogenesis imperfecta type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp1 bone morphogenetic protein 1 JBrowse link 15 52,166,401 52,210,786 RGD:8554872
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:8554872
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 Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Fkbp10 FKBP prolyl isomerase 10 JBrowse link 10 88,326,337 88,338,199 RGD:8554872
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:8554872
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
G Wnt1 Wnt family member 1 JBrowse link 7 140,464,999 140,469,046 RGD:8554872
osteogenesis imperfecta type 4 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
osteogenesis imperfecta type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ifitm5 interferon induced transmembrane protein 5 JBrowse link 1 213,743,331 213,749,879 RGD:7240710
RGD:8554872
G Suco SUN domain containing ossification factor JBrowse link 13 79,736,485 79,801,133 RGD:13592920
osteogenesis imperfecta type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Serpinf1 serpin family F member 1 JBrowse link 10 62,241,750 62,254,145 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crtap cartilage associated protein JBrowse link 8 122,382,613 122,402,209 RGD:7240710
RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
G Tmppe transmembrane protein with metallophosphoesterase domain JBrowse link 8 122,439,679 122,447,208 RGD:8554872
osteogenesis imperfecta type 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G P3h1 prolyl 3-hydroxylase 1 JBrowse link 5 138,279,597 138,294,280 RGD:7240710
RGD:8554872
osteogenesis imperfecta type 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppib peptidylprolyl isomerase B JBrowse link 8 71,719,681 71,725,538 RGD:7240710
RGD:8554872
G Snx22 sorting nexin 22 JBrowse link 8 71,725,405 71,728,729 RGD:8554872
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872
RGD:12792280
RGD:12792277
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      bone development disease 1263
        osteochondrodysplasia 430
          osteogenesis imperfecta 39
            Al Gazali Sabrinathan Nair Syndrome 0
            Astley-Kendall Syndrome 0
            Bruck syndrome + 2
            Cole-Carpenter syndrome + 2
            Grant Syndrome 0
            Lowry Maclean syndrome 0
            OI/EDS Combined Syndrome 1
            Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
            Osteopenic Nonfracture Syndrome 0
            gnathodiaphyseal dysplasia 1
            osteogenesis imperfecta type 1 8
            osteogenesis imperfecta type 10 1
            osteogenesis imperfecta type 11 1
            osteogenesis imperfecta type 12 2
            osteogenesis imperfecta type 13 2
            osteogenesis imperfecta type 14 1
            osteogenesis imperfecta type 15 2
            osteogenesis imperfecta type 16 1
            osteogenesis imperfecta type 17 1
            osteogenesis imperfecta type 18 1
            osteogenesis imperfecta type 19 1
            osteogenesis imperfecta type 2 + 3
            osteogenesis imperfecta type 20 1
            osteogenesis imperfecta type 3 10
            osteogenesis imperfecta type 4 2
            osteogenesis imperfecta type 5 2
            osteogenesis imperfecta type 6 1
            osteogenesis imperfecta type 7 3
            osteogenesis imperfecta type 8 1
            osteogenesis imperfecta type 9 2
            osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
            osteoporosis-pseudoglioma syndrome 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              osteochondrodysplasia 430
                osteogenesis imperfecta 39
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Astley-Kendall Syndrome 0
                  Bruck syndrome + 2
                  Cole-Carpenter syndrome + 2
                  Grant Syndrome 0
                  Lowry Maclean syndrome 0
                  OI/EDS Combined Syndrome 1
                  Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                  Osteopenic Nonfracture Syndrome 0
                  gnathodiaphyseal dysplasia 1
                  osteogenesis imperfecta type 1 8
                  osteogenesis imperfecta type 10 1
                  osteogenesis imperfecta type 11 1
                  osteogenesis imperfecta type 12 2
                  osteogenesis imperfecta type 13 2
                  osteogenesis imperfecta type 14 1
                  osteogenesis imperfecta type 15 2
                  osteogenesis imperfecta type 16 1
                  osteogenesis imperfecta type 17 1
                  osteogenesis imperfecta type 18 1
                  osteogenesis imperfecta type 19 1
                  osteogenesis imperfecta type 2 + 3
                  osteogenesis imperfecta type 20 1
                  osteogenesis imperfecta type 3 10
                  osteogenesis imperfecta type 4 2
                  osteogenesis imperfecta type 5 2
                  osteogenesis imperfecta type 6 1
                  osteogenesis imperfecta type 7 3
                  osteogenesis imperfecta type 8 1
                  osteogenesis imperfecta type 9 2
                  osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 0
                  osteoporosis-pseudoglioma syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.