JSON

overgrowth syndrome

^ http://purl.obolibrary.org/obo/MONDO_0019716


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 info

database cross reference
  • Orphanet:93460 (MONDO:equivalentTo)
  • UMLS:CN206621 (MONDO:equivalentTo)
  • NCIT:C94828 (MONDO:equivalentTo)
  • UMLS:C2986703 (NCIT:C94828)
Subsets

disease_grouping, ordo_group_of_disorders

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_93460, http://linkedlifedata.com/resource/umls/id/CN206621, http://purl.obolibrary.org/obo/NCIT_C94828, http://linkedlifedata.com/resource/umls/id/C2986703

id

MONDO:0019716

Term relations