Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014

Preferred Name	Glutaric Acidemia Type 1
Synonyms
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Glutaric_Acidemia_Type_1
DEFINITION	A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.
label	Glutaric Acidemia Type 1
prefixIRI	Thesaurus:Glutaric_Acidemia_Type_1
prefLabel	Glutaric Acidemia Type 1
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Amino_Acid_Metabolism_Disorder http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder

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Mapping To	Ontology	Source
http://nanbyodata.jp/ontology/NANDO_1200800	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200501	NANDO	LOOM
rgo:30609	GAMUTS	LOOM
rgo:30609	GAMUTS	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021574	LOINC	LOOM
http://purl.obolibrary.org/obo/NCIT_C99101	BERO	LOOM
http://purl.bioontology.org/ontology/LNC/LP56741-9	LOINC	LOOM
http://www.gamuts.net/entity#glutaric_acidemia_type_1	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99101	NCIT	LOOM