About: Argininosuccinic Aciduria

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Argininosuccinic Aciduria
rdfs:subClassOf	Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Enzyme Deficiency Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Argininosuccinic Aciduria
UMLS_CUI	C0268547
Contributing_Source	NICHD
FULL_SYN	Argininosuccinate Lyase DeficiencySYNCI Argininosuccinic AciduriaPTNCI Argininosuccinate Lyase DeficiencyPTNICHD
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.NCI
code	C84569
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0529172
is sameAs of	Argininosuccinic Aciduria

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