Noonan Syndrome 8

Preferred Label : Noonan Syndrome 8;

NCIt synonyms : NS8;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the RIT1 gene, encoding GTP-binding protein Rit1.;

Details

Origin ID

C176936;

UMLS CUI

C3809233;

Currated CISMeF NLP mapping
- Noonan syndrome 8 [OMIM Phenotype]
- Noonan syndrome 8 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 8 [OMIM Phenotype]
disease_mapped_to_gene
- RIT1 Gene [NCIt concept]
related_to_genetic_biomarker
- RIT1 Gene [NCIt concept]

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