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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 type 1
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Accession:DOID:0110334 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI type I;   OI1;   osteogenesis imperfecta tarda;   osteogenesis imperfecta type 1, mild;   osteogenesis imperfecta type I;   osteogenesis imperfecta with opalescent teeth;   osteogenesis imperfecta, COL1A2-related;   osteogenesis imperfecta, type 1, with dentinogenesis imperfecta;   osteogenesis imperfecta, type 1A;   osteogenesis imperfecta, type I, with dentinogenesis imperfecta
 primary_id: MESH:C536041
 alt_id: MIM:166200
 xref: GARD:8694;   ORDO:216796


show annotations for term's descendants           Sort by:
osteogenesis imperfecta type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf2 acyl-CoA synthetase family member 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,001,389...80,043,796
Ensembl chr10:80,001,389...80,045,050 		JBrowse link
G Casd1 CAS1 domain containing 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:33,613,450...33,705,821 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS 		ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | 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 1A | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
OMIM:166200
ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I | ClinVar Annotator: match by term: Osteogenesis imperfecta with opalescent teeth
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 I
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 I 		OMIM
ClinVar
MouseDO		 PMID:1445258 PMID:1460046 PMID:1634225 PMID:1718984 PMID:1737847 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:80,380,453...80,397,460 		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 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 I 		ClinVar PMID:458828 PMID:1634225 PMID:1642148 PMID:1978725 PMID:1990009 More... NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:33,518,420...33,553,995 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:26478226 More... NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,561,335...80,566,711 		JBrowse link
G Eme1 essential meiotic structure-specific endonuclease 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,083,585...80,092,450
Ensembl chr10:80,083,585...80,092,301 		JBrowse link
G Itga3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,990,160...80,022,206
Ensembl chr10:80,486,999...80,518,901 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:80,069,162...80,083,820
Ensembl chr10:80,069,120...80,084,079 		JBrowse link
G Mrpl27 mitochondrial ribosomal protein L27 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,595,459...79,601,242
Ensembl chr10:80,092,324...80,098,085 		JBrowse link
G Pdk2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:80,469,388...80,483,988
Ensembl chr10:80,469,389...80,484,355 		JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:80,434,888...80,450,919
Ensembl chr10:80,434,900...80,450,919 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:10866302 PMID:17526800 PMID:17526801 PMID:21194675 PMID:22628360 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta ClinVar PMID:16199547 PMID:23919265 PMID:25741868 PMID:25944380 PMID:25960145 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7942841 PMID:9295084 PMID:9443882 PMID:23949819 PMID:25741868 More... NCBI chr10:79,957,111...79,972,347
Ensembl chr10:80,454,641...80,469,179 		JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:7695699 PMID:7942841 PMID:8218237 PMID:9016532 PMID:9295084 More... NCBI chr10:80,397,158...80,416,165
Ensembl chr10:80,405,566...80,419,616 		JBrowse link
G Sgce sarcoglycan, epsilon ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:11288717 PMID:15077201 PMID:28492532 NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:33,737,814...33,808,908 		JBrowse link
G Tmem92 transmembrane protein 92 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,749,242...79,760,807 JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 ClinVar PMID:11442002 PMID:15693879 PMID:16756469 PMID:17526952 PMID:19158199 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:116,072,281...116,206,010 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25741868 NCBI chr10:79,605,910...79,619,482
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Stomatognathic Diseases 1375
      tooth disease 468
        dentinogenesis imperfecta 22
          osteogenesis imperfecta type 1 19
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            mouth disease 1044
              tooth disease 468
                Tooth Abnormalities 301
                  dentinogenesis imperfecta 22
                    osteogenesis imperfecta type 1 19
paths to the root