Preferred Label : Noonan syndrome 3;
Symbol : NS3;
CISMeF acronym : NS3;
Type : Phenotype, molecular basis known;
Description : Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily
by dysmorphic facial features, cardiac abnormalities, and short stature, among other
features (summary by Shah et al., 1999). For a phenotypic description and a discussion
of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by
mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome
are caused by mutations in PTPN11.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0010);
Prefixed ID : #609942;
Origin ID : 609942;
UMLS CUI : C1860991;
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)