ONTOLOGY REPORT - ANNOTATIONS


Term:atelosteogenesis
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Accession:DOID:0050648 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)
Synonyms:primary_id: RDO:9004915
 xref: OMIM:PS108720
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atelosteogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:13592920
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:8554872
RGD:13592920
Atelosteogenesis Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:11554173
RGD:8554872
Atelosteogenesis Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
Atelosteogenesis Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        osteochondrodysplasia 406
          atelosteogenesis 2
            Atelosteogenesis Type 1 1
            Atelosteogenesis Type 2 1
            Atelosteogenesis Type 3 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      Skin and Connective Tissue Diseases 3931
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              osteochondrodysplasia 406
                atelosteogenesis 2
                  Atelosteogenesis Type 1 1
                  Atelosteogenesis Type 2 1
                  Atelosteogenesis Type 3 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.