Terminology Service for NFDI4Health
Rare autosomal recessive disorder of the urea cycle which leads to the accumulation of argininosuccinic acid in body fluids and severe HYPERAMMONEMIA. Clinical features of the neonatal onset of the disorder include poor feeding, vomiting, lethargy, seizures, tachypnea, coma, and death. Later onset results in milder set of clinical features including vomiting, failure to thrive, irritability, behavioral problems, or psychomotor retardation. Mutations in the ARGININOSUCCINATE LYASE gene cause the disorder.
Instance info
Synonyms
Inborn Error of Urea Synthesis, Arginino Succinic Type, Argininosuccinate Acidemia, ASL Deficiency, Asauria, Argininbernsteinsaeurekrankheit (DE), Arginosuccinase Deficiency, ASA Deficiencies, Deficiency, Arginino Succinase, ASA Deficiency, Argininbernsteinsäurekrankheit (DE), Deficiencies, Argininosuccinate Lyase, Acidemia, Argininosuccinate, Argininosuccinic Acidurias, Arginino Succinase Deficiency, Argininbernsteinsaeure-Krankheit (DE), Argininosuccinat-Lyase-Mangel (DE), Aciduria, Argininosuccinic, Urea Cycle Disorder, Arginino Succinase Type, Argininosuccinic Acidemia, Argininosuccinicaciduria, Argininosuccinic Acid Lyase Deficiency, Argininosuccino-Azidurie (DE), Argininbernsteinsäure-Krankheit (DE), Deficiency, Argininosuccinate Lyase, Deficiencies, Arginino Succinase, Argininosuccinase Deficiency, Argininosuccinate Lyase Deficiencies, Argininosuccinate Lyase Deficiency, ASL Deficiencies, Acidurias, Argininosuccinic, Acidemias, Argininosuccinate, Arginino Succinase Deficiencies, Deficiencies, ASA, Deficiency, ASL, Deficiency, ASA, Argininosuccinurie (DE), Argininosuccinyl-Coa Lyase Deficiency, Argininosuccinate Acidemias, Deficiencies, ASL, Argininosuccinicacidurias
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
20100101
FX
D001123
HN
2010
MDA
20090706
MMR
20130708
MN
C18.452.648.100.940.124,C16.320.565.189.937.124,C18.452.132.100.937.124,C10.228.140.163.100.937.124,C16.320.565.100.940.124,C18.452.648.189.937.124
PM
2010
QB
http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
RO
http://purl.bioontology.org/ontology/MESH/D001123
SIB
http://purl.bioontology.org/ontology/MESH/D020162,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D020165,http://purl.bioontology.org/ontology/MESH/D020159
TERMUI
T734496,T734495,T734498,T734497,T734494,T734493,T812234,T734490,T840918,T840919,T840916,T840917,T734489,T734499,T734488
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2010)
cui
C0268547
hasSTY
http://purl.bioontology.org/ontology/STY/T047
tui
T047
Instance relations
Types