SHMARQL

argininosuccinic aciduria

<http://www.wikidata.org/entity/Q1654860>

amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine
rdfs:label
"argininosuccinic aciduria"@en
skos:altLabel
"ARGININOSUCCINIC ACIDURIA"@en
"ASA"@en
"ASA deficiency"@en
"Arginino succinase deficiency"@en
"Argininosuccinase deficiency"@en
"Argininosuccinate acidemia"@en
"Argininosuccinate lyase deficiency"@en
"Argininosuccinate lyase deficiency (disorder)"@en
"Argininosuccinatelyase deficiency"@en
"Argininosuccinic acid lyase deficiency"@en
"Argininosuccinicaciduria"@en
"Asl Deficiency"@en
"Inborn error of urea synthesis, arginino succinic type"@en
"Urea cycle disorder, arginino succinase type"@en
"argininosuccinic acidemia"@en
"arginosuccinase deficiency"@en
"deficiency of argininosuccinate lyase"@en
"deficiency of argininosuccinate lyase (disorder)"@en
schema:description
"amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine"@en
schema:dateModified "2026-10-23T23:42:30+00:00"^^xsd:dateTime
schema:version 2560157536
wikibase:identifiers 29
32
wikibase:sitelinks 9
wikibase:statements 57
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p:P7807 wd:statement/Q1654860-5C145CB3-00A5-4272-B80D-D23A22DC72DC
p:direct-normalized/P3201 <http://purl.bioontology.org/ontology/MDRFRE/10013373>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D056807>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008815>
p:direct-normalized/P6366 <https://makg.org/entity/2777856642>
<https://makg.org/entity/2909192479>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01028>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.228.140.163.100.937.124>
<http://id.nlm.nih.gov/mesh/C16.320.565.100.940.124>
<http://id.nlm.nih.gov/mesh/C16.320.565.189.937.124>
<http://id.nlm.nih.gov/mesh/C18.452.132.100.937.124>
<http://id.nlm.nih.gov/mesh/C18.452.648.100.940.124>
<http://id.nlm.nih.gov/mesh/C18.452.648.189.937.124>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:14755>
wdt:P10376 "agricultural-and-biological-sciences/argininosuccinic-acid"
wdt:P11143 "Argininosuccinic aciduria"
wdt:P11430 "DI-00133"
wdt:P1193 0.00005^^xsd:decimal
wdt:P14914 "D00023"
wdt:P1550 "23"
wdt:P1748 "C84569"
wdt:P1995 endocrinology
wdt:P2293 ASL
wdt:P279 amino acid metabolic disorder
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:14755>
<http://purl.obolibrary.org/obo/DOID_14755>
<http://www.orpha.net/ORDO/Orphanet_23>
wdt:P2892 "C0268547"
wdt:P31 type of disease
rare disease
wdt:P3201 "10013373"
wdt:P3841 "HP:0025630"
wdt:P4229 "E72.2"
wdt:P4233 "argininosuccinic-aciduria"
wdt:P4317 "5843"
wdt:P486 "D056807"
wdt:P492 "207900"
wdt:P493 "270.6"
wdt:P494 "E72.2"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008815"
wdt:P6366 "2777856642"
"2909192479"
wdt:P646 "/m/09k8r2"
wdt:P6532 motor delay
Neurodevelopmental delay
Global brain atrophy
cerebellar ataxia
tremor
developmental language disorder
specific learning disability
muscle weakness
sleep
aminoaciduria
tachypnea
Trichorrhexis nodosa
liver failure
eczema
wdt:P665 "H01028"
wdt:P668 "NBK51784"
wdt:P672 "C10.228.140.163.100.937.124"
"C16.320.565.100.940.124"
"C16.320.565.189.937.124"
"C18.452.132.100.937.124"
"C18.452.648.100.940.124"
"C18.452.648.189.937.124"
wdt:P699 "DOID:14755"
wdt:P7329 "5C50.A0"
wdt:P7464 "argininosuccinic-aciduria"
wdt:P7807 "439383288"
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