Noonan Syndrome 13

Preferred Label : Noonan Syndrome 13;

NCIt synonyms : NS13;

NCIt definition : Noonan syndrome caused by autosomal dominant mutation(s) in the MAPK1 gene, encoding mitogen-activated protein kinase 1.;

NCI Metathesaurus CUI : CL1660731;

Details

Origin ID

C177121;

UMLS CUI

C5436773;

Automatic exact mappings (from CISMeF team)
- Noonan syndrome 13 [DO Concept]
Currated CISMeF NLP mapping
- Noonan syndrome 13 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Noonan syndrome 13 [OMIM Phenotype]
disease_mapped_to_gene
- MAPK1 Gene [NCIt concept]
related_to_genetic_biomarker
- MAPK1 Gene [NCIt concept]

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