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ONTOLOGY REPORT - ANNOTATIONS


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 II;   OI2;   OIC;   OSTEOGENESIS IMPERFECTA, TYPE II;   Osteogenesis Imperfecta Type 2, Thin-Bone;   Osteogenesis Imperfecta, Type 2A;   Vrolik disease;   Vrolik type of osteogenesis imperfecta;   osteogenesis imperfecta congenita;   osteogenesis imperfecta congenita, perinatal lethal form;   osteogenesis imperfecta, type IIA;   perinatal lethal osteogenesis imperfecta congenita
 narrow_synonym: OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL
 primary_id: MESH:C536042
 alt_id: OMIM:166210;   RDO:0001456
 xref: GARD:10142
For additional species annotation, visit the Alliance of Genome Resources.


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osteogenesis imperfecta type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:7240710
RGD:8554872
G Col1a2 collagen type I alpha 2 chain JBrowse link 4 31,534,225 31,569,152 RGD:7240710
RGD:8554872
G Smpd3 sphingomyelin phosphodiesterase 3 JBrowse link 19 38,237,963 38,321,572 RGD:13592920
osteogenesis imperfecta type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          osteogenesis imperfecta 35
            osteogenesis imperfecta type 2 3
              osteogenesis imperfecta type 2C 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      Skin and Connective Tissue Diseases 4223
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                osteogenesis imperfecta 35
                  osteogenesis imperfecta type 2 3
                    osteogenesis imperfecta type 2C 1
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.