ONTOLOGY REPORT - ANNOTATIONS


Term:Bannayan-Riley-Ruvalcaba syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 14920
    syndrome 4714
      Multiple Hamartoma Syndrome 15
        Bannayan-Riley-Ruvalcaba syndrome 3
Path 2
Term Annotations click to browse term
  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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.