RASopathy
MONDO:0021060Mondo
Findings
No curated finding names RASopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0021060), read 2026-09-29. CC BY 4.0.
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
2 names
Resolves to: RASopathy
- Also called
- disorder of Ras protein signal transductionRas protein signal transduction disease