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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:An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)
Synonyms:exact_synonym: Fragilitas Ossium;   Lobstein Disease;   Lobstein's Disease;   Lobstein's syndrome;   Lobsteins Disease;   Vrolik's disease;   brittle bone disease;   osteogenesis imperfecta with blue sclerae;   osteopsathyrosis
 narrow_synonym: mild osteogenesis imperfecta;   osteogenesis imperfecta, recessive;   osteopenic nonfracture syndrome
 primary_id: MESH:D010013
 alt_id: OMIA:000754;   OMIA:002112
 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 Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Col1a1 collagen type I alpha 1 chain severity ISO ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis imperfecta
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
DNA:snp:intron:c.3207+1G>A (human)		 ClinVar
CTD
RGD		 PMID:1137656 PMID:2037280 PMID:2542316 PMID:3722186 PMID:7691343 More... RGD:734802, RGD:11667068, RGD:11667066, RGD:11667065, RGD:11571620, RGD:11571617, RGD:11571614, RGD:8552657 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS		 DNA:snp:cds:p.G328S (human)
ClinVar Annotator: match by term: Brittle bone disease | ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Lobstein's Disease | ClinVar Annotator: match by term: Osteogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta, mild
DNA:mutation:exon:c.87T > C(human)
DNA:mutations, haplotype (human)
DNA:deletion:exon:3983del (mouse)		 ClinVar
MouseDO
RGD		 PMID:458828 PMID:1978725 PMID:1990009 PMID:2010058 PMID:2824475 More... RGD:1581197, RGD:11667066, RGD:734804, RGD:7248772 NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		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 8:114,047,929...114,067,648
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:28492532 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Lrp5 LDL receptor related protein 5 treatment ISO RGD PMID:24677211 RGD:12792279 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		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:9536098 PMID:17277775 PMID:17576681 PMID:18566967 PMID:19088120 More... NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		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 chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28116328 PMID:32413570 PMID:33093841 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Serpinh1 serpin family H member 1 ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Smad4 SMAD family member 4 ISS MouseDO NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		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 chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive ClinVar NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:1793673 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		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
ISO		 OMIM:259450 | OMIM:609220
ClinVar Annotator: match by term: Bruck syndrome | ClinVar Annotator: match by term: Osteogenesis imperfecta with congenital joint contractures		 MouseDO
ClinVar		 PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISS OMIM:259450 | OMIM:609220 MouseDO NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		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 term: Bruck syndrome 1 OMIM
ClinVar		 PMID:9129737 PMID:9481655 PMID:9927692 PMID:20362275 PMID:20696291 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		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 OMIM
ClinVar		 PMID:9927692 PMID:12881513 PMID:15523624 PMID:22689593 PMID:25086671 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		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
ClinVar Annotator: match by term: Cole-Carpenter syndrome		 CTD
ClinVar		 PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		JBrowse link
G Sec24d SEC24 homolog D, COPII coat complex component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		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 PMID:25741868 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500 		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 OMIM
ClinVar		 PMID:25683121 PMID:25741868 PMID:26467156 PMID:27942778 PMID:28492532 More... NCBI chr 2:211,418,557...211,526,588
Ensembl chr 2:211,418,623...211,526,587 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 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: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 OMIM
ClinVar		 PMID:15728585 PMID:16407265 PMID:17206620 PMID:23692737 PMID:25944380 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 OMIM
ClinVar		 PMID:10982177 PMID:11288717 PMID:23692737 PMID:25741868 PMID:25944380 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		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 with unusual skeletal lesions
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)		 OMIM
ClinVar
RGD		 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 More... RGD:11570566, RGD:11570556 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		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 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I OMIM
ClinVar		 PMID:1445258 PMID:1634225 PMID:1737847 PMID:1770532 PMID:1867198 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta tarda | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth ClinVar PMID:458828 PMID:1642148 PMID:1978725 PMID:1990009 PMID:2010058 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,990,160...80,022,206
Ensembl chr10:79,990,161...80,022,118 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,972,550...79,987,074
Ensembl chr10:79,972,556...79,987,085 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,938,055...79,954,085
Ensembl chr10:79,938,066...79,954,083 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,957,111...79,972,347
Ensembl chr10:79,957,758...79,972,341 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr10:79,904,698...79,922,813
Ensembl chr10:79,908,738...79,922,813 		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: OI, TYPE X | ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 OMIM
ClinVar		 PMID:20188343 PMID:25510505 PMID:25741868 PMID:28492532 NCBI chr 1:153,643,500...153,650,853
Ensembl chr 1:153,643,510...153,650,801 		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 11 OMIM
ClinVar		 PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		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: Osteogenesis imperfecta type 12 ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22107750 PMID:22689593 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Sp7 Sp7 transcription factor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 OMIM
ClinVar		 PMID:20579626 PMID:25741868 PMID:28492532 PMID:29382611 NCBI chr 7:133,484,609...133,494,788
Ensembl chr 7:133,484,609...133,494,847 		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 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii OMIM
ClinVar		 PMID:15542026 PMID:22052668 PMID:22482805 PMID:24648371 PMID:25214535 More... NCBI chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii ClinVar NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		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 ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 OMIM
ClinVar		 PMID:17611541 PMID:23054245 PMID:25741868 PMID:26911354 PMID:28492532 NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
osteogenesis imperfecta type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 ClinVar PMID:25741868 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 15 OMIM
ClinVar		 PMID:22653731 PMID:23434763 PMID:23499309 PMID:23499310 PMID:23656646 More... NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		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 16 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29936144 PMID:30657919 NCBI chr 3:77,952,589...77,993,513
Ensembl chr 3:77,952,540...77,993,456 		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 17 OMIM
ClinVar		 PMID:25741868 PMID:26027498 PMID:28492532 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		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 18 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29358272 NCBI chr 8:86,222,294...86,229,045
Ensembl chr 8:86,225,357...86,229,045 		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 19 ClinVar
OMIM		 PMID:27380894 NCBI chr  X:37,410,914...37,461,130
Ensembl chr  X:37,410,811...37,464,430 		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 Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1511982 PMID:1613761 PMID:1864604 PMID:1874719 PMID:2035536 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA | ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta OMIM
ClinVar		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		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 20 OMIM
ClinVar		 PMID:31564437 NCBI chr 1:137,866,707...137,879,999
Ensembl chr 1:137,874,242...137,879,999 		JBrowse link
osteogenesis imperfecta type 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdelr2 KDEL endoplasmic reticulum protein retention receptor 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type 21 OMIM
ClinVar		 PMID:25741868 PMID:33053334 PMID:33964184 NCBI chr12:11,138,820...11,157,117
Ensembl chr12:11,138,820...11,157,153 		JBrowse link
Osteogenesis Imperfecta Type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta, type XXII OMIM
ClinVar		 PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:113,644,557...113,659,050
Ensembl chr 7:113,644,639...113,659,050 		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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 chr15:45,551,603...45,595,862
Ensembl chr15:45,551,603...45,595,776 		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 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		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 OMIM
ClinVar		 PMID:1445258 PMID:1770532 PMID:2037280 PMID:2511192 PMID:2542316 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 OMIM
ClinVar		 PMID:2064612 PMID:2824475 PMID:3023615 PMID:3995789 PMID:6092353 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		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 9:47,448,736...47,598,396
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G P3h1 prolyl 3-hydroxylase 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		JBrowse link
G Serpinf1 serpin family F member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651 		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 OMIM
ClinVar		 PMID:1718984 PMID:2037280 PMID:2542316 PMID:2745420 PMID:2794057 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		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 term: Osteogenesis imperfecta type 4 OMIM
ClinVar		 PMID:2064612 PMID:2897363 PMID:7695699 PMID:7860070 PMID:7881420 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		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 OMIM
ClinVar		 PMID:22863190 PMID:23977282 PMID:25741868 PMID:28492532 PMID:31099171 NCBI chr 1:196,045,836...196,052,554
Ensembl chr 1:196,045,666...196,047,232 		JBrowse link
G Suco SUN domain containing ossification factor ISS OMIM:610967 MouseDO NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896 		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 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21353196 PMID:21826736 PMID:23054245 More... NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		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 OMIM
ClinVar		 PMID:9536098 PMID:12110406 PMID:16199547 PMID:17055431 PMID:17192541 More... NCBI chr 8:114,047,929...114,067,648
Ensembl chr 8:114,047,933...114,067,631 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 ClinVar PMID:28492532 NCBI chr 8:114,085,524...114,093,388
Ensembl chr 8:114,084,831...114,094,286 		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 OMIM
ClinVar		 PMID:3545499 PMID:9536098 PMID:16199547 PMID:17277775 PMID:17576681 More... NCBI chr 5:132,841,868...132,856,664
Ensembl chr 5:132,841,928...132,856,659 		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 OMIM
ClinVar		 PMID:20089953 PMID:20484404 PMID:21282188 PMID:25741868 PMID:28492532 NCBI chr 8:66,603,877...66,609,734
Ensembl chr 8:66,603,861...66,630,428 		JBrowse link
G Snx22 sorting nexin 22 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 9 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:66,609,914...66,612,932
Ensembl chr 8:66,609,970...66,612,850 		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		 OMIM
ClinVar
CTD
RGD		 PMID:11719191 PMID:11793484 PMID:12579474 PMID:14727154 PMID:15024691 More... RGD:12792280, RGD:12792277 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      bone development disease 1807
        osteochondrodysplasia 608
          osteogenesis imperfecta 40
            Al Gazali Sabrinathan Nair Syndrome 0
            Astley-Kendall Syndrome 0
            Bruck syndrome + 2
            Cole-Carpenter syndrome + 2
            Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome + 2
            Grant Syndrome 0
            Lowry Maclean syndrome 0
            Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
            Osteogenesis Imperfecta Type 22 1
            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 21 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 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              osteochondrodysplasia 608
                osteogenesis imperfecta 40
                  Al Gazali Sabrinathan Nair Syndrome 0
                  Astley-Kendall Syndrome 0
                  Bruck syndrome + 2
                  Cole-Carpenter syndrome + 2
                  Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome + 2
                  Grant Syndrome 0
                  Lowry Maclean syndrome 0
                  Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 0
                  Osteogenesis Imperfecta Type 22 1
                  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 21 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