Noonan Syndrome 7

Preferred Label : Noonan Syndrome 7;

NCIt synonyms : NS7;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the BRAF gene, encoding serine/threonine-protein kinase B-raf.;

Détails

Origin ID

C176935;

UMLS CUI

C3150970;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 7 [DO Concept]
- Noonan syndrome 7 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 7 [OMIM Phenotype]
disease_mapped_to_gene
- BRAF Gene [NCIt concept]
related_to_genetic_biomarker
- BRAF Gene [NCIt concept]

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