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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bannayan-Riley-Ruvalcaba syndrome
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Accession:DOID:0050657 term browser browse the term
Definition:A Cowden 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;   CWS1;   Cowden syndrome 1;   RMSS;   Riley-Smith syndrome;   Ruvalcaba Myhre Smith syndrome;   macrocephaly, multiple lipomas and hemangiomata;   macrocephaly, pseudopapilledema and multiple hemangiomas;   macrocephaly, pseudopapilledema, and multiple hemangiomata
 primary_id: MIM:158350
 xref: GARD:5887;   NCI:C3939;   ORDO:109


show annotations for term's descendants           Sort by:
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LDLR low density lipoprotein receptor IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 More... NCBI chr19:11,089,463...11,133,820
Ensembl chr19:11,089,418...11,133,820 		JBrowse link
G LOC130004273 ATAC-STARR-seq lymphoblastoid silent region 2585 IAGP ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome		 ClinVar PMID:2338203 PMID:9467011 PMID:12844284 PMID:12938083 PMID:16773562 More... NCBI chr10:87,863,380...87,863,689 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP
ISS		 ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1
OMIM:158350		 ClinVar
OMIM
MouseDO		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    disease of cellular proliferation 26499
      benign neoplasm 4006
        cell type benign neoplasm 3264
          hemangioma 145
            Bannayan-Riley-Ruvalcaba syndrome 7
Path 2
Term Annotations click to browse term
  disease 146647
    Developmental Disease 49217
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42696
        genetic disease 40474
          monogenic disease 23471
            autosomal genetic disease 21827
              autosomal dominant disease 14792
                complex cortical dysplasia with other brain malformations 2244
                  Malformations of Cortical Development, Group I 1901
                    Macrocephaly 121
                      Bannayan-Riley-Ruvalcaba syndrome 7
paths to the root