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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: 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: OMIM:166200
 xref: GARD:8694;   ORDO:216796
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 1 term browser
Symbol Object Name 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: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:10408781 PMID:10739762 PMID:10931857 PMID:11090261 PMID:11113887 PMID:11317364 PMID:11432962 PMID:11826020 PMID:12590186 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:20696291 PMID:21249479 PMID:21520333 PMID:21567126 PMID:21594610 PMID:21667357 PMID:21884818 PMID:22206639 PMID:22565191 PMID:22570641 PMID:22589248 PMID:22753364 PMID:23054245 PMID:23079818 PMID:23265383 PMID:23529829 PMID:23587214 PMID:23692737 PMID:24088041 PMID:24147872 PMID:24273577 PMID:24390061 PMID:24486247 PMID:24501682 PMID:24668929 PMID:24891183 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:28725987 PMID:28810924 PMID:29150909 PMID:29432813 PMID:29499418 PMID:29543232 PMID:29669177 PMID:29807018 PMID:29946973 PMID:30266093 PMID:30614853 PMID:30675999 PMID:32581362 PMID:32860008 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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Stomatognathic Diseases 971
      tooth disease 285
        dentinogenesis imperfecta 8
          osteogenesis imperfecta type 1 7
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          mouth disease 750
            tooth disease 285
              Tooth Abnormalities 149
                dentinogenesis imperfecta 8
                  osteogenesis imperfecta type 1 7
paths to the root