loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
|
| Synonyms |
Bannayan syndrome RILEY-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Zonana syndrome Myhre-Riley-Smith syndrome macrocephaly with multiple lipomas and hemangiomas BRRS macrocephaly, pseudopapilledema, and multiple hemangiomata macrocephaly, multiple lipomas, and hemangiomata macrocephaly multiple lipomas and hemangiomata Ruvalcaba-Myhre-Smith syndrome Riley-Smith syndrome macrocephaly pseudopapilledema and multiple hemangiomas Ruvalcaba -Myhre-Smith syndrome BZS RMSS |
|
| Definitions |
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007924 |
|
| database_cross_reference |
DOID:0050657 UMLS:C0265326 OMIM:153480 Orphanet:109 SCTID:21984008 GARD:5887 ICD9:759.6 NCIT:C3939 NORD:1684 |
|
| definition |
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_109 http://purl.obolibrary.org/obo/NCIT_C3939 http://purl.obolibrary.org/obo/DOID_0050657 |
|
| has_exact_synonym |
Bannayan syndrome RILEY-SMITH syndrome Ruvalcaba-MYHRE-SMITH syndrome Bannayan-Riley-Ruvalcaba syndrome Bannayan-Zonana syndrome Myhre-Riley-Smith syndrome macrocephaly with multiple lipomas and hemangiomas BRRS |
|
| has_related_synonym |
macrocephaly, pseudopapilledema, and multiple hemangiomata macrocephaly, multiple lipomas, and hemangiomata macrocephaly multiple lipomas and hemangiomata Ruvalcaba-Myhre-Smith syndrome Riley-Smith syndrome macrocephaly pseudopapilledema and multiple hemangiomas Ruvalcaba -Myhre-Smith syndrome BZS RMSS |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6740 |
|
| id |
MONDO:0007924 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Bannayan-Riley-Ruvalcaba syndrome |
|
| notation |
MONDO:0007924 |
|
| prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019716 http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0000426 http://www.ebi.ac.uk/efo/EFO_0004264 |
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| excluded_subClassOf |