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Carbamoyl-Phosphate Synthase I Deficiency Disease

Go to external page http://purl.bioontology.org/ontology/MESH/D020165

A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)

Instance info

Synonyms

Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To, Carbamyl-Phosphate Synthetase I Deficiency Disease, Carbamoylphosphatsynthetase-I-Mangelkrankheit (DE), Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency), Carbamyl-Phosphate Synthetase 1 Deficiency Disease, Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency), Carbamyl Phosphate Synthetase I Deficiency Disease, Hyperammonämie aufgrund von Carbamoylphosphat-Synthetase-1-Mangel (DE), Carbamoylphosphate Synthetase 1 Deficiency Disease -, Carbamyl Phosphate Synthetase 1 Deficiency Disease, CPS 1 Deficiencies, Carbamoyl Phosphate Synthase 1 Deficiency Disease, Carbamyl Phosphate Synthetase (CPS) Deficiency, Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency), Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency, Carbamylphosphatsynthetase-I-Mangelkrankheit (DE), Carbamoylphosphate Synthetase 1 Deficiency Disease, CPS I Deficiencies, Carbamoyl Phosphate Synthetase I Deficiency Disease, Carbamoylphosphat-Synthase-1-Mangel (DE), CPS I Deficiency, Carbamoyl Phosphate Synthetase I Deficiency, Carbamoyl-Phosphate Synthase 1 Deficiency Disease, Carbamoyl-Phosphate Synthetase I Deficiency Disease, Carbamoyl Phosphate Synthase 1 Deficiency, Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease, Carbamoylphosphate Synthetase I Deficiency Disease, Carbamyl Phosphate Synthetase Deficiency Disease, CPS 1 Deficiency

AN

consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic

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

D002222

HN

2000

MDA

19991105

MMR

20160226

MN

C16.320.565.189.937.249,C18.452.132.100.937.249,C18.452.648.100.940.249,C16.320.565.100.940.249,C18.452.648.189.937.249,C18.452.660.097,C10.228.140.163.100.937.249

PM

2000

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/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,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/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,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/D002222

SIB

http://purl.bioontology.org/ontology/MESH/D015324,http://purl.bioontology.org/ontology/MESH/D015325,http://purl.bioontology.org/ontology/MESH/D029242,http://purl.bioontology.org/ontology/MESH/D030401,http://purl.bioontology.org/ontology/MESH/D029241,http://purl.bioontology.org/ontology/MESH/D056807,http://purl.bioontology.org/ontology/MESH/D020162,http://purl.bioontology.org/ontology/MESH/D020163,http://purl.bioontology.org/ontology/MESH/D020159,http://purl.bioontology.org/ontology/MESH/D054069,http://purl.bioontology.org/ontology/MESH/D005621,http://purl.bioontology.org/ontology/MESH/D017240,http://purl.bioontology.org/ontology/MESH/D007625,http://purl.bioontology.org/ontology/MESH/D007888

TERMUI

T734474,T000894598,T000892581,T734575,T000894599,T824974,T000894600,T734574,T366523,T812447,T812448,T358185,T000894601,T366524,T366525,T734576,T366526,T366527

TH

GHR (2014),NLM (2017),ORD (2010),OMIM (2013),NLM (2000),NLM (2010)

cui

C4085580,C0751753,C4082171

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Instance relations

Types