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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.


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 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, 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, 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Stomatognathic Diseases 981
      tooth disease 281
        dentinogenesis imperfecta 8
          osteogenesis imperfecta type 1 7
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                dentinogenesis imperfecta 8
                  osteogenesis imperfecta type 1 7
paths to the root

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