loading...| Preferred Name |
Bannayan-Riley-Ruvalcaba syndrome |
|
| Synonyms |
Myhre-Riley-Smith syndrome |
|
| Definitions |
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_109 |
|
| alternative_term |
Myhre-Riley-Smith syndrome BRRS |
|
| definition |
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 |
|
| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
OMIM:158350 UMLS:C0265326 ICD-11:LD2D.Y ICD-10:Q87.8 MedDRA:10080314 |
|
| label |
Bannayan-Riley-Ruvalcaba syndrome |
|
| notation |
ORPHA:109 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_363314 http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_211277 http://www.orpha.net/ORDO/Orphanet_459537 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
|
| prefixIRI |
ORDO:Orphanet_109 |
|
| prefLabel |
Bannayan-Riley-Ruvalcaba syndrome |
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_363314 http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_211277 http://www.orpha.net/ORDO/Orphanet_459537 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
|
| subClassOf |