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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 2
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Accession:DOID:0110341 term browser browse the term
Definition:An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality 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: OI type 2;   OI type II;   OI2;   OIC;   Osteogenesis Imperfecta, Type 2A;   Vrolik disease;   Vrolik type of osteogenesis imperfecta;   osteogenesis imperfecta congenita;   osteogenesis imperfecta congenita, perinatal lethal form;   osteogenesis imperfecta type 2, thin-bone;   osteogenesis imperfecta, type II;   osteogenesis imperfecta, type IIA;   perinatal lethal osteogenesis imperfecta congenita
 narrow_synonym: OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL
 primary_id: MESH:C536042
 alt_id: OMIM:166210
 xref: GARD:10142;   NCI:C99001;   ORDO:216804


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osteogenesis imperfecta type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO
ISS		 ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta congenita | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2, thin-bone | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
OMIM:166210
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1511982 PMID:1613761 PMID:1864604 PMID:1874719 PMID:2035536 More... NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: OI, TYPE II | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE II | ClinVar Annotator: match by term: Osteogenesis imperfecta Type 2 | ClinVar Annotator: match by term: Osteogenesis imperfecta type 2 | ClinVar Annotator: match by term: Vrolik type of osteogenesis imperfecta
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301191 PMID:1385413 PMID:1711048 PMID:1874719 PMID:2777764 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:166210 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
osteogenesis imperfecta type 2C 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 IIC ClinVar PMID:1613761 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        osteochondrodysplasia 861
          osteogenesis imperfecta 55
            osteogenesis imperfecta type 2 3
              osteogenesis imperfecta type 2C 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteogenesis imperfecta 55
                  osteogenesis imperfecta type 2 3
                    osteogenesis imperfecta type 2C 1
paths to the root