Terminology Service for NFDI4Health
A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)
Instance info
Synonyms
ASS Deficiency, Citrullinemias, Late-Onset, Classic Citrullinemia, Neonatal Citrullinemias, Citrullinemia, Type I, Deficiency Disease, Argininosuccinic Acid Synthase, Late-Onset Citrullinemia, Argininosuccinic Acid Synthetase Deficiency Disease, Deficiencies, ASS, Zitrullinämie (DE), Deficiency, ASS, Citrullinemia Type 1, Citrullinemia, Late-Onset, Argininosuccinate Synthetase Deficiencies, Citrullinemia, Late Onset, Citrullinemias, Classical, Partial Argininosuccinic Acid Synthetase Deficiency Disease, Deficiency, Argininosuccinate Synthetase, Deficiency, Argininosuccinic Acid Synthetase, Complete, Argininosuccinic Acid Synthetase Deficiency, Neonatal Citrullinemia, Citrullinuria, Citrullinurias, Citrullinemias, Neonatal, Classical Citrullinemia, Deficiency, Argininosuccinic Acid Synthetase, Partial, Citrullinemias, Citrullinemia, Neonatal, Classic Citrullinemias, Argininosuccinic Acid Synthase Deficiency Disease, ASS Deficiencies, Argininosuccinic Acid Synthetase Deficiency Disease, Partial, Deficiency Disease, Argininosuccinate Synthase, Citrullinemias, Classic, Argininosuccinate Synthase Deficiency Disease, Complete Argininosuccinic Acid Synthetase Deficiency Disease, Citrullinemia 1, Argininosuccinatsynthetase-Mangelkrankheit (DE), Argininosuccinate Synthetase Deficiency, Citrullinemia, Classical, Late-Onset Citrullinemias, Deficiencies, Argininosuccinate Synthetase, Type 1, Citrullinemia, Citrullinemia, Classic, Argininosuccinic Acid Synthetase Deficiency, Complete, Classical Citrullinemias
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
20000101
FX
D001124
HN
2000
MDA
19991103
MMR
20130708
MN
C16.320.565.100.940.374,C18.452.648.189.937.374,C10.228.140.163.100.937.374,C16.320.565.189.937.374,C18.452.132.100.937.374,C18.452.648.100.940.374
PM
2000
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,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/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,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/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,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/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,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/D001124
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/D056807
TERMUI
T734476,T734475,T734480,T367173,T367162,T367172,T367161,T812068,T367175,T367164,T367174,T367163,T367171,T367170,T367169,T367166,T367165,T367168,T367167,T358360,T734478,T734477,T734479
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (2000),NLM (2010)
cui
C0175683,C0751750,C0751751
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C538053,http://purl.bioontology.org/ontology/MESH/C538444,http://purl.bioontology.org/ontology/MESH/C536398
tui
T047
Instance relations
Types