National Cancer Institute Thesaurus - Argininosuccinic Aciduria - Classes

Preferred Name	Argininosuccinic Aciduria
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84569
code	C84569
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	A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.
FULL_SYN	Argininosuccinate Lyase Deficiency
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3492 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3101
label	Argininosuccinic Aciduria
NICHD_Hierarchy_Term	Argininosuccinic Aciduria
Preferred_Name	Argininosuccinic Aciduria
prefixIRI	C84569
prefLabel	Argininosuccinic Aciduria
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268547
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D056807	Medical Subject Headings	LOOM
http://purl.obolibrary.org/obo/HP_0025630	Human Phenotype Ontology	LOOM
http://purl.bioontology.org/ontology/LNC/LA21162-5	Logical Observation Identifier Names and Codes	LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C50.A0	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014418	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/207900	Online Mendelian Inheritance in Man	LOOM
http://purl.obolibrary.org/obo/DOID_14755	Human Disease Ontology 123	LOOM