loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
|
| Synonyms |
macrocephaly with multiple lipomas and hemangiomas Bannayan syndrome Ruvalcaba-MYHRE-SMITH syndrome RILEY-SMITH syndrome Myhre-Riley-Smith syndrome BRRS Bannayan-Zonana syndrome Bannayan-Riley-Ruvalcaba syndrome BZS macrocephaly, pseudopapilledema, and multiple hemangiomata macrocephaly multiple lipomas and hemangiomata Ruvalcaba -Myhre-Smith syndrome RMSS Ruvalcaba-Myhre-Smith syndrome macrocephaly pseudopapilledema and multiple hemangiomas macrocephaly, multiple lipomas, and hemangiomata Riley-Smith syndrome |
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| Definitions |
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007924 |
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| has_exact_synonym |
macrocephaly with multiple lipomas and hemangiomas Bannayan syndrome Ruvalcaba-MYHRE-SMITH syndrome RILEY-SMITH syndrome Myhre-Riley-Smith syndrome BRRS Bannayan-Zonana syndrome Bannayan-Riley-Ruvalcaba syndrome |
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| has_related_synonym |
BZS macrocephaly, pseudopapilledema, and multiple hemangiomata macrocephaly multiple lipomas and hemangiomata Ruvalcaba -Myhre-Smith syndrome RMSS Ruvalcaba-Myhre-Smith syndrome macrocephaly pseudopapilledema and multiple hemangiomas macrocephaly, multiple lipomas, and hemangiomata Riley-Smith syndrome |
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| IAO_0000233 | ||
| label |
Bannayan-Riley-Ruvalcaba syndrome |
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| prefixIRI |
MONDO:0007924 |
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| prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome |
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| textual definition |
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016229 http://purl.obolibrary.org/obo/MONDO_0019716 http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0000426 http://purl.obolibrary.org/obo/MONDO_0015185 |