Noonan Syndrome 9

Preferred Label : Noonan Syndrome 9;

NCIt synonyms : NS9;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the SOS2 gene, encoding son of sevenless homolog 2.;

Details

Origin ID

C176937;

UMLS CUI

C4225282;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 9 [DO Concept]
Currated CISMeF NLP mapping
- Noonan syndrome 9 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 9 [OMIM Phenotype]
disease_mapped_to_gene
- SOS2 Gene [NCIt concept]
related_to_genetic_biomarker
- SOS2 Gene [NCIt concept]

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