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ONTOLOGY REPORT - ANNOTATIONS


Term:Bannayan-Riley-Ruvalcaba syndrome
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Accession:DOID:0050657 term browser browse the term
Definition:A syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)
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;   macrocephaly, pseudopapilledema, and multiple hemangiomata
 xref: GARD:5887;   NCI:C3939;   ORDO:109
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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
RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    disease of cellular proliferation 5888
      Hamartoma 136
        PTEN hamartoma tumor syndrome 26
          Bannayan-Riley-Ruvalcaba syndrome 2
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal dominant disease 2753
                complex cortical dysplasia with other brain malformations 527
                  Malformations of Cortical Development, Group I 377
                    Macrocephaly 56
                      Bannayan-Riley-Ruvalcaba syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.