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osteogenesis imperfecta type 3 - Ontology Report - Rat Genome Database

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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
 narrow_synonym: SEVERE PROGRESSIVE DEFORMING RECESSIVE OSTEOGENESIS IMPERFECTA (TYPE III);   osteogenesis imperfecta, type III, COL1A1-related;   progressively deforming osteogenesis imperfecta with normal sclera;   progressively deforming osteogenesis imperfecta with normal sclerae
 broad_synonym: osteogenesis imperfecta, type III/IV
 primary_id: MESH:C536044
 alt_id: MIM:259420;   OMIA:002126;   RDO:0001458
 xref: GARD:8695;   ICD10CM:Q78.0;   NCI:C99002

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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 chr15:51,961,310...52,005,597
Ensembl chr15:45,551,603...45,595,776 		JBrowse link
G Ccdc134 coiled-coil domain containing 134 ISO ClinVar Annotator: match by term: Severe progressive deforming recessive osteogenesis imperfecta (type III) ClinVar PMID:25741868 PMID:32181939 PMID:34204301 PMID:35019224 NCBI chr 7:115,526,537...115,539,155
Ensembl chr 7:113,644,639...113,659,050 		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 2:204,509,136...204,702,264
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:259420
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
CTD
MouseDO
ClinVar		 PMID:1445258 PMID:1634225 PMID:1770532 PMID:2037280 PMID:2511192 More... NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:259420
ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III		 OMIM
CTD
MouseDO
ClinVar		 PMID:1990009 PMID:2052622 PMID:2064612 PMID:2824475 PMID:3023615 More... NCBI chr 4:33,518,557...33,553,484
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 9:54,940,768...55,090,151
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 chr10:85,845,801...85,858,361
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:22615817 PMID:25741868 PMID:27864101 PMID:28492532 PMID:32770541 NCBI chr 5:138,127,240...138,141,974
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 PMID:32770541 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:259420 MouseDO NCBI chr19:51,072,209...51,155,639
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 PMID:28492532 PMID:30715774 PMID:32770541 NCBI chr 7:131,817,558...131,821,605
Ensembl chr 7:129,938,604...129,942,651 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      bone development disease 2387
        osteochondrodysplasia 882
          osteogenesis imperfecta 62
            osteogenesis imperfecta type 3 11
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      musculoskeletal system disease 8461
        connective tissue disease 5918
          bone disease 4368
            bone development disease 2387
              osteochondrodysplasia 882
                osteogenesis imperfecta 62
                  osteogenesis imperfecta type 3 11
paths to the root