Noonan Syndrome 4

Preferred Label : Noonan Syndrome 4;

NCIt synonyms : NS4;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the SOS1 gene, encoding son of sevenless homolog 1.;

Details

Origin ID

C176932;

UMLS CUI

C1853120;

Currated CISMeF NLP mapping
- Noonan Syndrome 4 [MeSH concept]
- Noonan syndrome 4 [OMIM Phenotype]
- Noonan syndrome 4 [DO Concept]
- noonan syndrome 4 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 4 [MeSH concept]
- Noonan syndrome 4 [OMIM Phenotype]
- noonan syndrome 4 [MeSH Supplementary Concept]
disease_mapped_to_gene
- SOS1 Gene [NCIt concept]
related_to_genetic_biomarker
- SOS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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