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. [ https://en.wikipedia.org/wiki/RASopathy ]

This is just here as a test because I lose it

Term information

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

disease_grouping, ordo_group_of_disorders

clingen preferred
RASopathy

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/basis_in_disruption_of_process.yaml

http://purl.obolibrary.org/obo/mondo/patterns/disrupts_process.yaml

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://www.orpha.net/ORDO/Orphanet_536391

has exact synonym

disorder of Ras protein signal transduction

RASopathy

Ras protein signal transduction disease

id

MONDO:0021060