Noonan Syndrome 12

Preferred Label : Noonan Syndrome 12;

NCIt synonyms : NS12;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the RRAS2 gene, encoding Ras-related protein R-Ras2.;

NCI Metathesaurus CUI : CL1402450;

Details

Origin ID

C177120;

UMLS CUI

C5231432;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 12 [DO Concept]
Currated CISMeF NLP mapping
- Noonan syndrome 12 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 12 [OMIM Phenotype]
disease_mapped_to_gene
- RRAS2 Gene [NCIt concept]
related_to_genetic_biomarker
- RRAS2 Gene [NCIt concept]

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