Noonan Syndrome 5

Preferred Label : Noonan Syndrome 5;

NCIt synonyms : NS5;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the RAF1 gene, encoding RAF proto-oncogene serine/threonine-protein kinase.;

Details

Origin ID

C176933;

UMLS CUI

C1969057;

Currated CISMeF NLP mapping
- Noonan Syndrome 5 [MeSH concept]
- Noonan syndrome 5 [OMIM Phenotype]
- Noonan syndrome 5 [DO Concept]
- noonan syndrome 5 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 5 [MeSH concept]
- Noonan syndrome 5 [OMIM Phenotype]
- noonan syndrome 5 [MeSH Supplementary Concept]
disease_mapped_to_gene
- RAF1 Gene [NCIt concept]
related_to_genetic_biomarker
- RAF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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