loading...| Preferred Name |
obsolete_Beckwith-Wiedemann syndrome |
| Synonyms |
Beckwith-Wiedemann syndrome chromosome region BWS Wiedemann-Beckwith syndrome exomphalos-macroglossia-gigantism syndrome exomphalos macroglossia gigantism syndrome EMG syndrome Wiedemann-Beckwith syndrome (WBS) Beckwith-Wiedemann syndrome |
| Definitions |
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. |
| ID |
http://www.orpha.net/ORDO/Orphanet_116 |
| Obsolete |
true |
| closeMatch | |
| database_cross_reference |
ICD10:Q87.3 ICD9:759.89 NCIT:C34415 OMIM:130650 DOID:5572 MESH:D001506 SCTID:81780002 MedDRA:10050344 Orphanet:116 UMLS:C0004903 GARD:0003343 |
| definition |
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. |
| deprecated |
true |
| exactMatch |
http://identifiers.org/snomedct/81780002 http://purl.obolibrary.org/obo/DOID_5572 http://purl.obolibrary.org/obo/NCIT_C34415 http://www.orpha.net/ORDO/Orphanet_116 http://linkedlifedata.com/resource/umls/id/C0004903 http://identifiers.org/mesh/D001506 |
| has_exact_synonym |
BWS Wiedemann-Beckwith syndrome exomphalos-macroglossia-gigantism syndrome Beckwith-Wiedemann syndrome |
| has_related_synonym |
Beckwith-Wiedemann syndrome chromosome region exomphalos macroglossia gigantism syndrome EMG syndrome Wiedemann-Beckwith syndrome (WBS) |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
| label |
obsolete_Beckwith-Wiedemann syndrome |
| obsoleted_in_version |
3.41.0 |
| prefLabel |
obsolete_Beckwith-Wiedemann syndrome |
| reason_for_obsolescence |
Replaced with Mondo term. |
| see also |
https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome |
| term replaced by | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_116 | Orphanet Rare Disease Ontology / Orphanet罕见病本体 | SAME_URI |