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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: OMIA:002126;   OMIM:259420;   RDO:0001458
 xref: GARD:8695;   ICD10CM:Q78.0;   NCI:C99002


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 chr14:70,711,998...70,758,280
Ensembl chr14:70,711,998...70,757,674 		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 chr15:82,012,101...82,026,404
Ensembl chr15:82,012,123...82,026,404 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO
IAGP		 OMIM:259420
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
ClinVar		 PMID:1445258 PMID:1770532 PMID:2037280 PMID:2511192 PMID:2542316 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868 		JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO
IAGP		 OMIM:259420
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III		 OMIM
MouseDO
CTD
ClinVar		 PMID:2052622 PMID:2064612 PMID:2824475 PMID:3023615 PMID:3995789 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544 		JBrowse link
G Col5a2 collagen, type V, alpha 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr 1:45,413,491...45,542,442
Ensembl chr 1:45,413,481...45,542,442 		JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650 		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 4:119,090,112...119,106,174
Ensembl chr 4:119,090,112...119,106,172 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:32770541 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IAGP OMIM:259420 MouseDO NCBI chr 8:106,979,180...107,064,597
Ensembl chr 8:106,979,180...107,064,620 		JBrowse link
G Wnt1 wingless-type MMTV integration site family, member 1 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type III ClinVar PMID:25741868 PMID:28492532 PMID:30715774 PMID:32770541 NCBI chr15:98,687,738...98,691,711
Ensembl chr15:98,687,738...98,691,718 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      bone development disease 2296
        osteochondrodysplasia 864
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 3 11
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Skin and Connective Tissue Diseases 6942
        connective tissue disease 5393
          bone disease 3899
            bone development disease 2296
              osteochondrodysplasia 864
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 3 11
paths to the root