National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Noonan Syndrome 1
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75459
code

C75459
DEFINITION

Noonan syndrome caused by mutations in the PTPN11 gene.
label

Noonan Syndrome 1
Legacy_Concept_Name

Noonan_Syndrome_1
NCI_META_CUI

CL448939
Preferred_Name

Noonan Syndrome 1
prefixIRI

C75459
prefLabel

Noonan Syndrome 1
Semantic_Type

Disease or Syndrome
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/163950 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/DOID_0060578 Human Disease Ontology 123 LOOM