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
- NCIT:C94828 (MONDO:equivalentTo)
- UMLS:C2986703 (NCIT:C94828)
- Orphanet:93460 (MONDO:equivalentTo)
- GARD:19213 (Orphanet:93460)
gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C94828
http://linkedlifedata.com/resource/umls/id/C2986703
http://www.orpha.net/ORDO/Orphanet_93460