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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.


show annotations for term's descendants           Sort by:
 
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 chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Col1a1 collagen, type I, alpha 1 severity ISO
IEA
IAGP
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
DNA:mutation:splice junction:c.1875+1G>A (IVS 27+1G>A)(human)
DNA:mutations:exons: c.97G > A,c.1209T > A,c.3702C > T(human)
DNA:deletion: :
DNA:mutation:exon:c.3235G>A(p.G1079S)(human)
DNA:transition mutation:splice junction:
DNA:transversion mutation:intron:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:166200
DNA:snp:intron:c.3207+1G>A (human)
ClinVar
MouseDO
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: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:18272325, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:19550437, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21567126, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23522764, PMID:23587214, PMID:23735642, PMID:24147872, PMID:24389367, PMID:24390061, 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, PMID:9448299, PMID:18755172, PMID:21341209, PMID:21113976, PMID:23079818, PMID:24443344, PMID:18248096, PMID:22565191 RGD:734802, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO
IEA
IAGP
DNA:snp:cds:p.G328S (human)
ClinVar Annotator: match by term: Lobstein disease
ClinVar Annotator: match by term: Osteogenesis imperfecta
ClinVar Annotator: match by term: Lobstein's Disease
DNA:mutation:exon:c.87T > C(human)
ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutations, haplotype (human)
DNA:deletion:exon:3983del (mouse)
ClinVar
MouseDO
PMID:458828, PMID:1978725, PMID:2010058, PMID:2824475, PMID:2985635, PMID:2993307, PMID:3372533, PMID:3403536, PMID:6092353, PMID:7695699, PMID:7860070, PMID:8071956, PMID:8094076, PMID:8218237, 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: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, PMID:16705691, PMID:21341209, PMID:2567784, PMID:8446583 RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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 chr 9:114,375,131...114,390,712
Ensembl chr 9:114,375,134...114,390,675
JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 treatment IMP RGD PMID:24677211 RGD:12792279 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
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 chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 9:66,060,169...66,066,629
Ensembl chr 9:66,060,222...66,066,623
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 7:99,345,375...99,353,239
Ensembl chr 7:99,345,376...99,353,239
JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
JBrowse link
G Smad4 SMAD family member 4 IEA MouseDO NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 9:66,065,174...66,069,759
Ensembl chr 9:66,065,176...66,069,719
JBrowse link
G Sp7 Sp7 transcription factor 7 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr15:102,356,603...102,367,035
Ensembl chr15:102,356,606...102,367,182
JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr11:55,394,159...55,420,080
Ensembl chr11:55,394,500...55,423,183
JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
JBrowse link
Bruck Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Bruck syndrome 1
ClinVar Annotator: match by term: Kuskokwim disease
ClinVar Annotator: match by OMIM:259450
ClinVar
OMIM
PMID:9129737, PMID:9481655, PMID:9927692, PMID:20362275, PMID:20696291, PMID:20839288, PMID:21567934, PMID:22949511, PMID:23712425, PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
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 ClinVar Annotator: match by term: Bruck syndrome 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609220
OMIM
ClinVar
PMID:12881513, PMID:15523624, PMID:22689593, PMID:25086671, PMID:25741868, PMID:28492532 NCBI chr 9:92,539,636...92,608,428
Ensembl chr 9:92,542,223...92,608,428
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, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
JBrowse link
G Sec24d Sec24 related gene family, member D (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
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, beta polypeptide ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr11:120,560,298...120,573,253
Ensembl chr11:120,560,298...120,573,253
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 related gene family, member D (S. cerevisiae) ISO ClinVar Annotator: match by term: Cole-Carpenter syndrome 2
ClinVar Annotator: match by term: Cole-carpenter syndrome 2
OMIM
ClinVar
PMID:25683121, PMID:26467156, PMID:27942778, PMID:30462379 NCBI chr 3:123,264,801...123,365,641
Ensembl chr 3:123,267,455...123,365,641
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 ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar Annotator: match by term: Osteogenesis imperfecta Levin type
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
ClinVar Annotator: match by OMIM:166260
OMIM
ClinVar
PMID:5816667, PMID:9673985, PMID:15124103, PMID:17008331, PMID:17132147, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23047743, PMID:23530687, PMID:23606453, PMID:23607914, PMID:23663589, PMID:23670307, PMID:23757202, PMID:24022920, PMID:24033266, PMID:24232312, PMID:24239059, PMID:24803842, PMID:24843231, PMID:25046369, PMID:25135358, PMID:25326637, PMID:25741868, PMID:25864073, PMID:25891276, PMID:26404900, PMID:26467025, PMID:26810512, PMID:26838040, PMID:26886200, PMID:26911675, PMID:27708273, PMID:27854218, PMID:27862037, PMID:27884173, PMID:27911336, PMID:28492532, PMID:28888072, PMID:29124309, PMID:29382405, PMID:30311386, PMID:30564623, PMID:30919934, PMID:31395899, PMID:15124103, PMID:23047743 RGD:11570566, RGD:11570556 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
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 ISO ClinVar Annotator: match by null ClinVar PMID:15728585, PMID:16407265 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
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 IEA
ISO
OMIM:166200
ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1, mild
MouseDO
ClinVar
OMIM
PMID:1445258, PMID:1634225, PMID:1737847, PMID:1988452, PMID:2035536, PMID:2037280, PMID:2295701, PMID:2542316, PMID:2794057, PMID:3016737, PMID:3403550, PMID:6876111, PMID:7487936, PMID:7691343, PMID:7695699, PMID:7789952, PMID:7881420, PMID:7942841, PMID:8079666, PMID:8094076, PMID:8125479, PMID:8218237, PMID:8349697, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8757037, PMID:8808594, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:9600458, PMID:10073586, PMID:10408781, PMID:10739762, PMID:10931857, PMID:11090261, PMID:11113887, PMID:11317364, PMID:11432962, PMID:11826020, PMID:12590186, PMID:13431894, PMID:15024692, PMID:15024745, PMID:15235039, PMID:15241796, PMID:15728585, PMID:15741671, PMID:15864348, PMID:15931785, PMID:16705691, PMID:16786509, PMID:16879195, PMID:17078022, PMID:17206620, PMID:17211858, PMID:17309652, PMID:17392686, PMID:17875077, PMID:18028452, PMID:18272325, PMID:18311573, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18798308, PMID:18845533, PMID:18996919, PMID:19199251, PMID:19344236, PMID:19358256, PMID:19491628, PMID:19550437, PMID:19637253, PMID:19751715, PMID:20087402, PMID:20696291, PMID:21249479, PMID:21344539, PMID:21520333, PMID:21567126, PMID:21594610, PMID:21667357, PMID:21801164, PMID:21884818, PMID:22174522, PMID:22206639, PMID:22565191, PMID:22570641, PMID:22589248, PMID:22753364, PMID:23047998, PMID:23054245, PMID:23079818, PMID:23265383, PMID:23522764, PMID:23529829, PMID:23587214, PMID:23692737, PMID:23735642, PMID:24088041, PMID:24147872, PMID:24273577, PMID:24389367, PMID:24390061, PMID:24486247, PMID:24501682, PMID:24668929, PMID:24715559, PMID:24891183, PMID:24964776, PMID:25086671, PMID:25146735, PMID:25324685, PMID:25436829, PMID:25525159, PMID:25597651, PMID:25696019, PMID:25741868, PMID:25944380, PMID:25963598, PMID:25983617, PMID:26138843, PMID:26177859, PMID:26188975, PMID:26235824, PMID:26264579, PMID:26467025, PMID:26604951, PMID:26627451, PMID:26633542, PMID:26633545, PMID:26712438, PMID:27011056, PMID:27044453, PMID:27059743, PMID:27060301, PMID:27090748, PMID:27132807, PMID:27335225, PMID:27380894, PMID:27484908, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28102596, PMID:28116328, PMID:28173822, PMID:28326186, PMID:28378289, PMID:28436160, PMID:28492532, PMID:28498836, PMID:28668235, PMID:28725987, PMID:28810924, PMID:29150909, PMID:29432813, PMID:29499418, PMID:29543232, PMID:29669177, PMID:29807018, PMID:29946973, PMID:30266093, PMID:30311386, PMID:30614853, PMID:30675999, PMID:32581362 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 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 chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,044,475...95,076,844
Ensembl chr11:95,044,474...95,076,801
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,026,258...95,041,371
Ensembl chr11:95,026,258...95,041,354
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,991,212...95,006,898
Ensembl chr11:94,991,035...95,006,899
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:95,009,395...95,026,087
Ensembl chr11:95,009,879...95,026,087
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,962,777...94,976,327
Ensembl chr11:94,962,791...94,976,327
JBrowse link
osteogenesis imperfecta type 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinh1 serine (or cysteine) peptidase inhibitor, clade H, member 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar Annotator: match by term: OI, TYPE X
OMIM:613848
ClinVar Annotator: match by OMIM:613848
OMIM
ClinVar
MouseDO
PMID:20188343, PMID:25510505, PMID:25741868, PMID:28492532 NCBI chr 7:99,345,375...99,353,239
Ensembl chr 7:99,345,376...99,353,239
JBrowse link
osteogenesis imperfecta type 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI
ClinVar Annotator: match by term: OI, TYPE XI
ClinVar Annotator: match by OMIM:610968
OMIM
ClinVar
PMID:20362275, PMID:20839288, PMID:21567934, PMID:25741868, PMID:27362741, PMID:28492532 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
osteogenesis imperfecta type 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FK506 binding protein 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 chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G Sp7 Sp7 transcription factor 7 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar Annotator: match by OMIM:613849
OMIM
ClinVar
PMID:20579626, PMID:29382611 NCBI chr15:102,356,603...102,367,035
Ensembl chr15:102,356,606...102,367,182
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 ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii
ClinVar Annotator: match by term: OI, TYPE XIII
ClinVar Annotator: match by OMIM:614856
OMIM
ClinVar
PMID:15542026, PMID:22052668, PMID:22482805, PMID:24648371, PMID:25214535, PMID:25402547, PMID:28492532 NCBI chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr14:70,520,941...70,524,081
Ensembl chr14:70,520,949...70,524,081
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 chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019
JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv
ClinVar Annotator: match by OMIM:615220
OMIM
ClinVar
PMID:23434763, PMID:23499309, PMID:23499310, PMID:25741868, PMID:29481978 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
JBrowse link
G Wnt10b wingless-type MMTV integration site family, member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chr15:98,770,712...98,778,206
Ensembl chr15:98,770,712...98,778,150
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 ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi ClinVar
OMIM
PMID:25741868, PMID:29936144 NCBI chr 2:91,982,328...92,024,170
Ensembl chr 2:91,982,328...92,024,502
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 acidic cysteine rich glycoprotein ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii OMIM
ClinVar
PMID:26027498 NCBI chr11:55,394,159...55,420,080
Ensembl chr11:55,394,500...55,423,183
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 ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVIII ClinVar
OMIM
PMID:29358272 NCBI chr 9:85,320,439...85,327,150
Ensembl chr 9:85,320,439...85,327,348
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 ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIX ClinVar
OMIM
PMID:27380894 NCBI chr  X:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
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 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
OMIM:166210
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone
ClinVar Annotator: match by OMIM:166210
OMIM
ClinVar
MouseDO
PMID:1511982, PMID:1613761, PMID:1864604, PMID:1874719, PMID:2035536, PMID:2037280, PMID:2121988, PMID:2220807, PMID:2298750, PMID:2309707, PMID:2339700, PMID:2500431, PMID:2794057, PMID:2894346, PMID:2913053, PMID:3016737, PMID:3108247, PMID:3198624, PMID:3403550, PMID:3667599, PMID:3722184, PMID:6702894, PMID:7695699, PMID:7816518, PMID:7881420, PMID:7942841, PMID:8097422, PMID:8100209, PMID:8100856, PMID:8218237, PMID:8364588, PMID:8408653, PMID:8613526, PMID:8669434, PMID:8808594, PMID:8950680, PMID:9016532, PMID:9067755, PMID:9143923, PMID:9295084, PMID:9443882, PMID:10931857, PMID:11317364, PMID:12538651, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:18996919, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:21834035, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26264579, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28116328, PMID:28378289, PMID:28492532, PMID:29432813, PMID:30266093, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
ClinVar Annotator: match by term: OI, TYPE II
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II
ClinVar Annotator: match by OMIM:166210
OMIM
ClinVar
PMID:1301191, PMID:1385413, PMID:1711048, PMID:1874719, PMID:2777764, PMID:2839839, PMID:2914942, PMID:3372533, PMID:7695699, PMID:7860070, PMID:7959683, PMID:8094076, PMID:8218237, PMID:9016532, PMID:9272740, PMID:9594376, PMID:9923651, PMID:16705691, PMID:17078022, PMID:19344236, PMID:21520333, PMID:22589248, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26604951, PMID:26938784, PMID:27519266, PMID:28492532, PMID:30311386 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA OMIM:166210 MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
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 ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XX OMIM
ClinVar
PMID:31564437 NCBI chr 7:83,883,866...83,900,311
Ensembl chr 7:83,884,466...83,901,532
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 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IIC ClinVar PMID:1613761 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
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 chr14:70,474,555...70,520,716
Ensembl chr14:70,474,558...70,520,234
JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO
IEA
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
OMIM:259420
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE III/IV
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
MouseDO
PMID:1445258, PMID:1770532, PMID:2037280, PMID:2511192, PMID:2794057, PMID:7691343, PMID:7695699, PMID:7789952, PMID:7942841, PMID:8094076, PMID:8125479, PMID:8218237, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8723681, PMID:8786074, PMID:8808594, PMID:8910493, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10408781, PMID:10931857, PMID:11286507, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18670065, PMID:18704262, PMID:18798308, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:22589248, PMID:22753364, PMID:24390061, PMID:24668929, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27748872, PMID:28378289, PMID:28492532, PMID:29150909, PMID:29499418, PMID:29807018, PMID:30675999 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO
IEA
ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
OMIM:259420
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
MouseDO
PMID:2064612, PMID:2824475, PMID:3023615, PMID:3995789, PMID:6092353, PMID:7695699, PMID:7749416, PMID:7860070, PMID:7881420, PMID:8081394, PMID:8094076, PMID:8218237, PMID:8444468, PMID:8728690, PMID:8829649, PMID:9016532, PMID:9143923, PMID:9272740, PMID:9594376, PMID:10807697, PMID:16705691, PMID:17078022, PMID:19208385, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, PMID:24501682, PMID:25326635, PMID:25326637, PMID:25450603, PMID:25741868, PMID:25944380, PMID:26138843, PMID:26604951, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28492532, PMID:28498836, PMID:28810924, PMID:30311386, PMID:30715774 NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:45,374,331...45,503,282
Ensembl chr 1:45,374,321...45,503,282
JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr11:100,415,694...100,424,840
Ensembl chr11:100,415,697...100,424,824
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA OMIM:259420 MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr15:98,789,857...98,793,830
Ensembl chr15:98,789,857...98,793,837
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 ISO
IEA
ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
OMIM:166220
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
MouseDO
PMID:1718984, PMID:2037280, PMID:2745420, PMID:2794057, PMID:7695699, PMID:7942841, PMID:8218237, PMID:8408653, PMID:8456809, PMID:8613526, PMID:8669434, PMID:8786074, PMID:8808594, PMID:9007315, PMID:9016532, PMID:9067755, PMID:9101304, PMID:9295084, PMID:9443882, PMID:10417276, PMID:10931857, PMID:11317364, PMID:12590186, PMID:15024692, PMID:15024745, PMID:15741671, PMID:15864348, PMID:15931785, PMID:17078022, PMID:17309652, PMID:18412368, PMID:18553566, PMID:18704262, PMID:19344236, PMID:19358256, PMID:21249479, PMID:21567126, PMID:21667357, PMID:21884818, PMID:22589248, PMID:22753364, PMID:24390061, PMID:25086671, PMID:25741868, PMID:25944380, PMID:25963598, PMID:26177859, PMID:26467025, PMID:26627451, PMID:27132807, PMID:27509835, PMID:27510842, PMID:27519266, PMID:27748872, PMID:28378289, PMID:28492532, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
PMID:2064612, PMID:2897363, PMID:2993307, PMID:3372533, PMID:6092353, PMID:7695699, PMID:7860070, PMID:7881420, PMID:8094076, PMID:8218237, PMID:8456807, PMID:8786065, PMID:8829649, PMID:8829655, PMID:9016532, PMID:9143923, PMID:9268111, PMID:9272740, PMID:9594376, PMID:11288717, PMID:11836364, PMID:15077201, PMID:15241796, PMID:16705691, PMID:16816023, PMID:17078022, PMID:19344236, PMID:21520333, PMID:21667357, PMID:22206639, PMID:22589248, 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 chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 5
ClinVar Annotator: match by OMIM:610967
OMIM
ClinVar
PMID:22863190, PMID:22863195, PMID:23240094, PMID:23408678, PMID:23674381, PMID:24478195, PMID:24519609, PMID:24674092, PMID:25251575, PMID:25741868, PMID:28492532 NCBI chr 7:140,948,958...140,950,243
Ensembl chr 7:140,948,958...140,950,291
JBrowse link
G Suco SUN domain containing ossification factor IEA OMIM:610967 MouseDO NCBI chr 1:161,816,112...161,876,837
Ensembl chr 1:161,816,114...161,876,682
JBrowse link
osteogenesis imperfecta type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
OMIM:613982
ClinVar Annotator: match by OMIM:613982
OMIM
ClinVar
MouseDO
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
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
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 7
OMIM:610682
ClinVar Annotator: match by OMIM:610682
OMIM
ClinVar
MouseDO
PMID:12110406, PMID:17055431, PMID:17192541, PMID:18414213, PMID:18996919, PMID:19550437, PMID:19846465, PMID:23054245, PMID:24033266, PMID:25604815, PMID:25741868, PMID:28492532 NCBI chr 9:114,375,131...114,390,712
Ensembl chr 9:114,375,134...114,390,675
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 9:114,401,095...114,411,201
Ensembl chr 9:114,401,105...114,407,276
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
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 8
OMIM:610915
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VIII
ClinVar Annotator: match by OMIM:610915
OMIM
ClinVar
MouseDO
PMID:17277775, PMID:18566967, PMID:19088120, PMID:22281939, PMID:24498616, PMID:25741868, PMID:26634552, PMID:27509835, PMID:28492532, PMID:29150909, PMID:29499418 NCBI chr 4:119,232,915...119,248,977
Ensembl chr 4:119,232,915...119,248,975
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
IEA
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
OMIM:259440
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by OMIM:259440
OMIM
ClinVar
MouseDO
PMID:20089953, PMID:20484404, PMID:21282188, PMID:28492532 NCBI chr 9:66,060,169...66,066,629
Ensembl chr 9:66,060,222...66,066,623
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar PMID:28492532 NCBI chr 9:66,065,174...66,069,759
Ensembl chr 9:66,065,176...66,069,719
JBrowse link
osteoporosis-pseudoglioma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 low density lipoprotein receptor-related protein 5 ISO
IEA
ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
OMIM:259770
DNA:mutations:cds:p.W478R,p.W504C(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259770
OMIM
ClinVar
MouseDO
CTD
PMID:11719191, PMID:11793484, PMID:12579474, PMID:14727154, PMID:15024691, PMID:15077203, PMID:15201508, PMID:15619672, PMID:15767861, PMID:15777745, PMID:15824851, PMID:15824861, PMID:15850991, PMID:15981244, PMID:16252235, PMID:16679074, PMID:17086708, PMID:17137849, PMID:17202888, PMID:17223614, PMID:17241106, PMID:17306638, PMID:17307038, PMID:17505772, PMID:17766366, PMID:18058054, PMID:18349089, PMID:18493104, PMID:18588671, PMID:18825883, PMID:18932002, PMID:19023643, PMID:20034086, PMID:25741868, PMID:26467025, PMID:16679074, PMID:11719191 RGD:12792280, RGD:12792277 NCBI chr19:3,584,825...3,686,585
Ensembl chr19:3,584,828...3,686,564
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    Developmental Diseases 9342
      bone development disease 1329
        osteochondrodysplasia 432
          osteogenesis imperfecta 38
            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 + 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 13334
    disease of anatomical entity 12815
      musculoskeletal system disease 5360
        connective tissue disease 3714
          bone disease 3171
            bone development disease 1329
              osteochondrodysplasia 432
                osteogenesis imperfecta 38
                  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 + 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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.