A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. [ NCIT:C94828 ]
Term information
- Orphanet:93460 (MONDO:equivalentTo)
- UMLS:C2986703 (MONDO:equivalentTo)
- icd11.foundation:2113355045 (https://orcid.org/0000-0001-5208-3432)
- MEDGEN:458929 (MONDO:equivalentTo)
- GARD:19213 (MONDO:GARD)
- NCIT:C94828 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, ordo_group_of_disorders
http://identifiers.org/medgen/458929
http://purl.obolibrary.org/obo/NCIT_C94828
http://linkedlifedata.com/resource/umls/id/C2986703
http://www.orpha.net/ORDO/Orphanet_93460
Term relations
- disorder of development or morphogenesis
- disease has feature some Overgrowth
- has characteristic some rare