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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:An autosomal dominant disease 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
 primary_id: RDO:9003061
 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
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Multiple Hamartoma Syndrome 24
        Bannayan-Riley-Ruvalcaba syndrome 3
Path 2
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  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    Macrocephaly 53
                      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.