Noonan Syndrome 3

Preferred Label : Noonan Syndrome 3;

NCIt synonyms : NS3;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the KRAS gene, encoding GTPase KRas.;

Details

Origin ID

C176931;

UMLS CUI

C1860991;

Currated CISMeF NLP mapping
- Noonan syndrome 3 [OMIM Phenotype]
- Noonan syndrome 3 [MeSH concept]
- Noonan syndrome 3 [DO Concept]
- noonan syndrome 3 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 3 [OMIM Phenotype]
- Noonan syndrome 3 [MeSH concept]
- noonan syndrome 3 [MeSH Supplementary Concept]
disease_mapped_to_gene
- KRAS Gene [NCIt concept]
related_to_genetic_biomarker
- KRAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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