National Cancer Institute Thesaurus

Last uploaded: February 23, 2024

Preferred Name	Amino Acid Metabolism Disorder
Synonyms	Amino Acid Metabolism Disorder Disorder of Amino Acid Metabolism
Definitions	An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
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#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	CTRP NICHD
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	Amino Acid Metabolism Disorder Disorder of Amino Acid Metabolism
label	Amino Acid Metabolism Disorder
Preferred_Name	Amino Acid Metabolism Disorder
prefixIRI	Thesaurus:C97090
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0002514
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C97090	BERO	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Amino_Acid_Metabolism_Disorder	PEDTERM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Amino_Acid_Metabolism_Disorder	CSEO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10001938	MEDDRA	LOOM