loading...| Preferred Name |
Beckwith-Wiedemann syndrome |
| ID |
http://www.orpha.net/ORDO/Orphanet_116 |
| alternative_term |
BWS Exomphalos-macroglossia-gigantism syndrome Wiedemann-Beckwith syndrome |
| definition |
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 |
| has_age_of_onset |
Antenatal Neonatal |
| has_inheritance |
Unknown Autosomal dominant |
| hasDbXref |
OMIM:130650 ICD-10:Q87.3 MedDRA:10050344 ICD-11:LD2C UMLS:C0004903 MeSH:D001506 |
| label |
Beckwith-Wiedemann syndrome |
| notation |
ORPHA:116 |
| part_of |
http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_319328 http://www.orpha.net/ORDO/Orphanet_156207 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_217595 |
| prefixIRI |
ORDO:Orphanet_116 |
| prefLabel |
Beckwith-Wiedemann syndrome |
| present_in |
Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000 Italy AND has_birth_prevalence_average_value : 10.0 AND has_birth_prevalence_range : 1-5 / 10 000 Jamaica AND has_birth_prevalence_average_value : 7.4 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-5 / 10 000 Spain AND has_birth_prevalence_average_value : 1.3 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 3.5 AND has_birth_prevalence_range : 1-9 / 100 000 |
| treeView |
http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_319328 http://www.orpha.net/ORDO/Orphanet_156207 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_93460 http://www.orpha.net/ORDO/Orphanet_93547 http://www.orpha.net/ORDO/Orphanet_217595 |
| subClassOf |