National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Amino Acid Metabolism Disorder

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97090

code

C97090

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

An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.

FULL_SYN

Disorder of Amino Acid Metabolism

Has_NICHD_Parent

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

label

Amino Acid Metabolism Disorder

NICHD_Hierarchy_Term

Amino Acid Metabolism Disorder

Preferred_Name

Amino Acid Metabolism Disorder

prefixIRI

C97090

prefLabel

Amino Acid Metabolism Disorder

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0002514

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

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