Noonan Syndrome 2

Preferred Label : Noonan Syndrome 2;

NCIt synonyms : NS2;

NCIt definition : Noonan syndrome caused by autosomal recessive mutation(s) in the LZTR1 gene, encoding leucine-zipper-like transcriptional regulator 1.;

Details

Origin ID

C176930;

UMLS CUI

C1854469;

Currated CISMeF NLP mapping
- Noonan Syndrome 2 [MeSH concept]
- Noonan syndrome 2 [OMIM Phenotype]
- Noonan syndrome 2 [DO Concept]
- noonan syndrome 2 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan Syndrome 2 [MeSH concept]
- Noonan syndrome 2 [OMIM Phenotype]
- Noonan syndrome associated hypertrophic cardiomyopathy [Disease (Nov.)]
- noonan syndrome 2 [MeSH Supplementary Concept]
disease_mapped_to_gene
- LZTR1 Gene [NCIt concept]
related_to_genetic_biomarker
- LZTR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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