Preferred Label : RASopathy;
NCIt synonyms : RASopathies;
NCIt definition : A group of genetic disorders associated with mutation(s) in genes that are constituents
of the RAS signaling pathway. These disorders are characterized by distinct facial
features, developmental delays, cardiac defects, growth delays, and feeding problems.
Representative examples include: neurofibromatosis type 1, capillary malformation-arteriovenous
malformation syndrome, cardiofaciocutaneous syndrome, Costello syndrome, multiple
lentigines syndrome, and Noonan syndrome.;
NCI Metathesaurus CUI : CL1662414;
Origin ID : C179667;
UMLS CUI : C5555857;
Currated CISMeF NLP mapping
- Semantic type(s)
- concept_is_in_subset
