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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 3
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Accession:DOID:0110339 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)
Synonyms:exact_synonym: OI, type III;   OI3;   osteogenesis imperfecta type III;   progressively deforming osteogenesis imperfecta with normal sclera;   progressively deforming osteogenesis imperfecta with normal sclerae
 narrow_synonym: osteogenesis imperfecta, type III, COL1A1-related
 broad_synonym: osteogenesis imperfecta, type III/IV
 primary_id: MESH:C536044
 alt_id: OMIA:002126;   OMIM:259420;   RDO:0001458
 xref: GARD:8695;   ICD10CM:Q78.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
osteogenesis imperfecta type 3 term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteogenesis imperfecta 39
            osteogenesis imperfecta type 3 10
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteogenesis imperfecta 39
                  osteogenesis imperfecta type 3 10
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.