Noonan Syndrome 6

Preferred Label : Noonan Syndrome 6;

NCIt synonyms : NS6;

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

Détails

Origin ID

C176934;

UMLS CUI

C2750732;

Currated CISMeF NLP mapping
- Noonan Syndrome 6 [MeSH concept]
- Noonan syndrome 6 [OMIM Phenotype]
- Noonan syndrome 6 [DO Concept]
- noonan syndrome 6 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 6 [MeSH concept]
- Noonan syndrome 6 [OMIM Phenotype]
- noonan syndrome 6 [MeSH Supplementary Concept]
disease_mapped_to_gene
- NRAS Gene [NCIt concept]
related_to_genetic_biomarker
- NRAS Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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