JSON

RASopathy

^ http://purl.obolibrary.org/obo/MONDO_0021060

Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. [ Wikipedia:RASopathy ]

Term info

database cross reference
  • Orphanet:536391 (https://github.com/monarch-initiative/mondo/issues/606)
  • EFO:1001502 (MONDO:equivalentTo)
  • DOID:0080690 (MONDO:equivalentTo)
  • NCIT:C179667 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C179667, http://purl.obolibrary.org/obo/Orphanet_536391, http://purl.obolibrary.org/obo/DOID_0080690

has exact synonym

disorder of Ras protein signal transduction, RASopathy, Ras protein signal transduction disease

id

MONDO:0021060

Term relations

Subclass of: