National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Noonan Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854
code	C34854
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
FULL_SYN	Noonan's Syndrome
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label	Noonan Syndrome
Legacy_Concept_Name	Noonan_Syndrome
NICHD_Hierarchy_Term	Noonan Syndrome
Preferred_Name	Noonan Syndrome
prefixIRI	C34854
prefLabel	Noonan Syndrome
Semantic_Type	Disease or Syndrome Congenital Abnormality
UMLS_CUI	C0028326
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D009634	Medical Subject Headings	LOOM
	http://purl.obolibrary.org/obo/DOID_3490	Human Disease Ontology 123	LOOM