National Cancer Institute Thesaurus / 美国国家癌症研究所词典

Last uploaded: September 7, 2023

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#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 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 CTRP
DEFINITION	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Display_Name	Amino Acid Metabolism Disorder
FULL_SYN	Disorder of Amino Acid Metabolism Amino Acid Metabolism Disorder
label	Amino Acid Metabolism Disorder
Preferred_Name	Amino Acid Metabolism Disorder
prefixIRI	Thesaurus: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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