loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
|
| Synonyms |
Bannayan syndrome |
|
| Definitions |
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3939" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3939" NCI Thesaurus) |
|
| ID |
http://purl.bioontology.org/ontology/PDQ/CDR0000758212 |
|
| altLabel |
Bannayan syndrome macrocephaly with multiple lipomas and hemangiomas Bannayan-Zonana syndrome |
|
| cui |
C0265326 |
|
| DATE FIRST PUBLISHED |
2014-02-20 |
|
| Date last modified |
2014-02-20 |
|
| definition |
A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3939" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3939" NCI Thesaurus) |
|
| NCI ID |
C3939 |
|
| notation |
CDR0000758212 |
|
| ORIG STY |
Genetic condition |
|
| prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
|
| tui |
T047 |
|
| subClassOf |