Term:Bannayan-Riley-Ruvalcaba syndrome
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Accession:DOID:0050657 term browser browse the term
Synonyms:exact_synonym: BRRS;   BZS;   Bannayan-Zonana syndrome;   RMSS;   Riley-Smith syndrome;   Ruvalcaba Myhre Smith syndrome;   macrocephaly, multiple lipomas and hemangiomata;   macrocephaly, pseudopapilledema and multiple hemangiomas
 primary_id: RDO:9003061
 xref: GARD:5887
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Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:8554872
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872

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Path 1
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  disease 14920
    syndrome 4714
      Multiple Hamartoma Syndrome 15
        Bannayan-Riley-Ruvalcaba syndrome 3
Path 2
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  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Nervous System Malformations 664
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                Macrocephaly 57
                  Bannayan-Riley-Ruvalcaba syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.