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

Last uploaded: September 7, 2023

Preferred Name
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84639
code	C84639
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 rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.
FULL_SYN	Citrullinemia
label	Citrullinemia
Preferred_Name	Citrullinemia
prefixIRI	Thesaurus:C84639
Semantic_Type	Disease or Syndrome
UMLS_CUI	C3844613
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84785

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