Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Col1a1 collagen type I alpha 1 chain severity ISO 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
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS
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 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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 8:122,382,613...122,402,209 JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
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 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
JBrowse link
G Ppib peptidylprolyl isomerase B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 1:164,301,010...164,308,306
Ensembl chr 1:164,301,010...164,308,317
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266, PMID:25741868 NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
JBrowse link
G Smad4 SMAD family member 4 ISS MouseDO NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS MouseDO NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar NCBI chr 8:71,725,405...71,728,729
Ensembl chr 8:71,725,771...71,728,685
JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 7:143,957,316...143,967,488
Ensembl chr 7:143,958,858...143,967,484
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 NCBI chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046
JBrowse link
Bruck syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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 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 chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
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 8:99,977,334...100,059,736
Ensembl chr 8:99,977,334...100,059,736
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 chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
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 ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 OMIM
ClinVar
PMID:25683117 NCBI chr10:109,736,459...109,748,070
Ensembl chr10:109,736,458...109,747,987
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 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 2:227,455,704...227,562,801
Ensembl chr 2:227,455,722...227,562,319
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 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
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 null ClinVar PMID:15728585, PMID:16407265 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 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
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:82,855,841...82,887,755
Ensembl chr10:82,855,613...82,887,497
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:82,838,270...82,852,758
Ensembl chr10:82,839,153...82,852,660
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:82,800,704...82,816,735
Ensembl chr10:82,800,704...82,816,731
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:82,820,457...82,838,046
Ensembl chr10:82,823,918...82,833,867
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 10
ClinVar Annotator: match by term: OI, TYPE X
ClinVar Annotator: match by OMIM:613848
OMIM
ClinVar
PMID:20188343, PMID:25510505, PMID:25741868, PMID:28492532 NCBI chr 1:164,301,010...164,308,306
Ensembl chr 1:164,301,010...164,308,317
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 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 chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
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 chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12
ClinVar Annotator: match by OMIM:613849
OMIM
ClinVar
PMID:20579626, PMID:29382611 NCBI chr 7:143,957,316...143,967,488
Ensembl chr 7:143,958,858...143,967,484
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 chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: OI, TYPE XIII ClinVar NCBI chr15:52,211,538...52,214,480
Ensembl chr15:52,211,544...52,214,616
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 5:70,639,156...70,675,055
Ensembl chr 5:70,639,156...70,675,054
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 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 chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046
JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xv ClinVar PMID:25741868, PMID:29481978 NCBI chr 7:140,448,284...140,466,159
Ensembl chr 7:140,448,465...140,454,268
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 3:80,892,433...80,933,283
Ensembl chr 3:80,892,435...80,933,283
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 ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvii OMIM
ClinVar
PMID:26027498 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
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 8:92,935,474...92,942,267
Ensembl chr 8:92,937,739...92,942,076
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:40,258,933...40,309,047
Ensembl chr  X:40,258,493...40,310,563
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 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
ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone
ClinVar Annotator: match by OMIM:166210
OMIM
ClinVar
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain 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 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
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 1:146,030,211...146,043,097
Ensembl chr 1:146,037,426...146,043,097
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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 chr15:52,166,401...52,210,786
Ensembl chr15:52,166,401...52,210,746
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE III/IV
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI type III
ClinVar Annotator: match by term: Osteogenesis imperfecta type III
ClinVar Annotator: match by OMIM:259420
OMIM
ClinVar
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 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:88,326,337...88,338,199
Ensembl chr10:88,326,080...88,338,207
JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 7:140,464,999...140,469,046
Ensembl chr 7:140,464,999...140,469,046
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 ClinVar Annotator: match by term: OI type IV
ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV
ClinVar Annotator: match by term: Osteogenesis imperfecta type 4
ClinVar Annotator: match by OMIM:166220
OMIM
ClinVar
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain 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 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
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 1:213,743,331...213,749,879
Ensembl chr 1:213,744,796...213,745,748
JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:79,736,485...79,801,133
Ensembl chr13:79,736,482...79,801,561
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 ClinVar Annotator: match by term: Osteogenesis imperfecta, type VI
ClinVar Annotator: match by OMIM:613982
OMIM
ClinVar
PMID:21353196, PMID:23054245, PMID:25565926, PMID:25741868, PMID:27056980, PMID:27796462, PMID:28492532 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 7
ClinVar Annotator: match by OMIM:610682
OMIM
ClinVar
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 8:122,382,613...122,402,209 JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:122,439,679...122,447,208 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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 8
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VIII
ClinVar Annotator: match by OMIM:610915
OMIM
ClinVar
PMID:17277775, PMID:18566967, PMID:19088120, PMID:22281939, PMID:24498616, PMID:25741868, PMID:26634552, PMID:27509835, PMID:28492532, PMID:29150909, PMID:29499418 NCBI chr 5:138,279,597...138,294,280
Ensembl chr 5:138,279,506...138,294,262
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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 9
ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE IX
ClinVar Annotator: match by OMIM:259440
OMIM
ClinVar
PMID:20089953, PMID:20484404, PMID:21282188, PMID:28492532 NCBI chr 8:71,719,681...71,725,538
Ensembl chr 8:71,719,563...71,725,562
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 8:71,725,405...71,728,729
Ensembl chr 8:71,725,771...71,728,685
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 ClinVar Annotator: match by term: Osteoporosis with pseudoglioma
DNA:mutations:cds:p.W478R,p.W504C(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:259770
OMIM
ClinVar
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 chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          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 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                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
paths to the root

NHLBI Logo

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