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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
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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Col1a1 collagen type I alpha 1 chain severity ISO DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
DNA:transversion mutation:intron:
DNA:transition mutation:splice junction:
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:snp:intron:c.3207+1G>A (human)
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1137656, PMID:2037280, PMID:3722186, PMID:6876111, PMID:7691343, PMID:7695699, PMID:7942841, PMID:8079666, PMID:8218237, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8757037, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:9448299, PMID:10073586, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11113887, PMID:11317364, PMID:11432962, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15241796, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16705691, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17211858, PMID:17309652, PMID:17392686, PMID:18028452, PMID:18248096, PMID:18272325, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18755172, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21113976, PMID:21249479, PMID:21341209, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22565191, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23079818, PMID:23522764, PMID:23587214, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, PMID:24443344, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25525159, PMID:25597651, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26467025, PMID:26627451, PMID:26633542, PMID:26712438, PMID:27044453, PMID:27059743, PMID:27060301, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28102596, PMID:28116328, PMID:28378289, PMID:28492532, PMID:28668235, PMID:29150909, PMID:29543232, PMID:29946973, PMID:30311386, PMID:31319225 RGD:11571614, RGD:11571617, RGD:11571620, RGD:11667065, RGD:11667066, RGD:11667068, RGD:734802, RGD:8552657 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO DNA:mutations, haplotype (human)
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Lobstein's Disease
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:deletion:exon:3983del (mouse)
DNA:mutation:exon:c.87T > C(human)
DNA:snp:cds:p.G328S (human)
RGD
ClinVar
PMID:458828, PMID:1978725, PMID:2010058, PMID:2567784, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3403536, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8071956, PMID:8094076, PMID:8218237, PMID:8446583, PMID:8456808, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9295084, PMID:9399846, PMID:9557891, PMID:9594376, PMID:9923651, PMID:10976985, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15172002, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:18028452, PMID:18272325, PMID:18311573, PMID:18996919, PMID:19344236, PMID:21341209, PMID:21344539, PMID:21520333, PMID:21667357, PMID:21801164, PMID:21884818, PMID:21912751, PMID:22206639, PMID:22589248, PMID:23692737, PMID:24033266, PMID:24140640, PMID:24501682, PMID:24668929, PMID:24767406, PMID:25326637, PMID:25450603, PMID:25633413, PMID:25741868, PMID:25835785, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26432670, PMID:26467025, PMID:26604951, PMID:27056980, PMID:27146342, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28396251, PMID:28492532, PMID:28498836, PMID:28625337, PMID:28810924, PMID:28916840, PMID:29595812, PMID:30311386 RGD:11667066, RGD:1581197, RGD:7248772, RGD:734804 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Crtap cartilage associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
CTD
ClinVar
PMID:18566967 NCBI chrNW_004936473:23,451,394...23,472,645 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
CTD
ClinVar
PMID:18566967, PMID:24498616, PMID:25741868, PMID:26634552, PMID:28492532, PMID:31319225 NCBI chrNW_004936474:24,077,270...24,093,399 JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chrNW_004936471:24,633,769...24,640,246 JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936498:4,341,944...4,351,432 JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chrNW_004936555:5,966,610...5,982,083 JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar NCBI chrNW_004936471:24,630,337...24,633,281 JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chrNW_004936512:10,610,542...10,613,335 JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chrNW_004936515:11,026,156...11,046,812 JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chrNW_004936512:6,781,001...6,785,358 JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO OMIM NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
Bruck Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO OMIM NCBI chrNW_004936519:9,053,192...9,139,221 JBrowse link
Cole-Carpenter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936594:5,368,199...5,379,215 JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936869:485,706...566,591 JBrowse link
Cole-Carpenter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P4hb prolyl 4-hydroxylase subunit beta ISO OMIM NCBI chrNW_004936594:5,368,199...5,379,215 JBrowse link
Cole-Carpenter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec24d SEC24 homolog D, COPII coat complex component ISO OMIM NCBI chrNW_004936869:485,706...566,591 JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO OMIM NCBI chrNW_004936654:2,891,019...2,976,465 JBrowse link
OI/EDS Combined Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Oi/eds combined syndrome ClinVar PMID:15728585, PMID:16407265 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
ClinVar PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8094076, PMID:8218237, PMID:8829649, PMID:9016532, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11317364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:16879195, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:22753364, PMID:23692737, PMID:24501682, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26177859, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:29595812, PMID:30311386 NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,553,904...11,583,387 JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,534,412...11,549,128 JBrowse link
G Ppp1r9b protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,497,389...11,514,191 JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,517,464...11,534,184 JBrowse link
G Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chrNW_004936490:11,470,155...11,482,377 JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serpin family H member 1 ISO OMIM NCBI chrNW_004936498:4,341,944...4,351,432 JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO OMIM NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: OI, TYPE XII
ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII
ClinVar PMID:20362275, PMID:20839288, PMID:21567934, PMID:22107750, PMID:22949511, PMID:25741868 NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
G Sp7 Sp7 transcription factor ISO OMIM NCBI chrNW_004936512:10,610,542...10,613,335 JBrowse link
osteogenesis imperfecta type 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO OMIM NCBI chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chrNW_004936555:5,966,610...5,982,083 JBrowse link
osteogenesis imperfecta type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem38b transmembrane protein 38B ISO OMIM NCBI chrNW_004936559:6,501,890...6,553,446 JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt1 Wnt family member 1 ISO OMIM NCBI chrNW_004936512:6,781,001...6,785,358 JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chrNW_004936512:6,768,240...6,774,172 JBrowse link
osteogenesis imperfecta type 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Creb3l1 cAMP responsive element binding protein 3 like 1 ISO OMIM NCBI chrNW_004936562:2,739,908...2,772,484 JBrowse link
osteogenesis imperfecta type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sparc secreted protein acidic and cysteine rich ISO OMIM NCBI chrNW_004936515:11,026,156...11,046,812 JBrowse link
osteogenesis imperfecta type 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tent5a terminal nucleotidyltransferase 5A ISO OMIM NCBI chrNW_004936510:8,813,977...8,820,909 JBrowse link
osteogenesis imperfecta type 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chrNW_004936624:2,464,152...2,510,984 JBrowse link
osteogenesis imperfecta type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
osteogenesis imperfecta type 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mesd mesoderm development LRP chaperone ISO OMIM NCBI chrNW_004936483:19,697,241...19,706,719 JBrowse link
osteogenesis imperfecta type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
osteogenesis imperfecta type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936555:5,990,822...6,023,864 JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936730:466,912...680,823 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936506:8,739,475...8,873,073 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936490:16,712,843...16,720,438 JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936474:24,077,270...24,093,399 JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chrNW_004936512:6,781,001...6,785,358 JBrowse link
osteogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO OMIM NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO OMIM NCBI chrNW_004936585:5,650,322...5,686,393 JBrowse link
osteogenesis imperfecta type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifitm5 interferon induced transmembrane protein 5 ISO OMIM NCBI chrNW_004936888:160,734...161,960 JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serpin family F member 1 ISO OMIM NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
osteogenesis imperfecta type 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crtap cartilage associated protein ISO OMIM NCBI chrNW_004936473:23,451,394...23,472,645 JBrowse link
G Glb1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chrNW_004936473:23,348,431...23,440,271 JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chrNW_004936473:23,435,933...23,440,173 JBrowse link
osteogenesis imperfecta type 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h1 prolyl 3-hydroxylase 1 ISO OMIM NCBI chrNW_004936474:24,077,270...24,093,399 JBrowse link
osteogenesis imperfecta type 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppib peptidylprolyl isomerase B ISO OMIM NCBI chrNW_004936471:24,633,769...24,640,246 JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar PMID:28492532 NCBI chrNW_004936471:24,630,337...24,633,281 JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO OMIM NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    Developmental Diseases 8505
      bone development disease 1258
        osteochondrodysplasia 407
          osteogenesis imperfecta 35
            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 7
            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 + 2
            osteogenesis imperfecta type 20 1
            osteogenesis imperfecta type 3 9
            osteogenesis imperfecta type 4 2
            osteogenesis imperfecta type 5 1
            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 11938
    disease of anatomical entity 11499
      musculoskeletal system disease 4947
        connective tissue disease 3413
          bone disease 2949
            bone development disease 1258
              osteochondrodysplasia 407
                osteogenesis imperfecta 35
                  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 7
                  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 + 2
                  osteogenesis imperfecta type 20 1
                  osteogenesis imperfecta type 3 9
                  osteogenesis imperfecta type 4 2
                  osteogenesis imperfecta type 5 1
                  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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.