National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
Preferred Name

Noonan Syndrome 1
Synonyms

Noonan Syndrome 1

Definitions

Noonan syndrome caused by mutations in the PTPN11 gene.

ID

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

code

C75459

DEFINITION

Noonan syndrome caused by mutations in the PTPN11 gene.

FULL_SYN

Noonan Syndrome 1

label

Noonan Syndrome 1

Legacy Concept Name

Noonan_Syndrome_1

NCI_META_CUI

CL448939

Preferred_Name

Noonan Syndrome 1

prefixIRI

Thesaurus:C75459

Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26337

Semantic_Type

Disease or Syndrome

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34854

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