loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
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| 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 |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) 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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| comment |
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'digestive system disorder' (MONDO:0004335) ontology branch (https://orcid.org/0000-0001-9310-0163) |
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| database_cross_reference |
SCTID:21984008 GARD:5887 DOID:0050657 Orphanet:109 NCIT:C3939 UMLS:C0265326 NORD:1684 OMIM:153480 ICD9:759.6 |
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| 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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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_109 http://purl.obolibrary.org/obo/NCIT_C3939 http://purl.obolibrary.org/obo/DOID_0050657 |
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| has material basis in germline mutation in | ||
| 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 |
https://github.com/monarch-initiative/mondo/issues/6740 |
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| id |
MONDO:0007924 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
Bannayan-Riley-Ruvalcaba syndrome |
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| notation |
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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| treeView |
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_0005385 |
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| excluded subClassOf | ||
| subClassOf |
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_0005385 |