DiseaseID 11136
高氨血症
disease
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to pr
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Disease: 1Formula: 6Symptom: 12Target: 23Links: 42
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11136
- Core Entity Id
- 68474
- Source Entity Count
- 1
- Preferred Name
- Hyperammonemia
- Name Cn
- 高氨血症
- Name Pinyin
- Gao An Xue Zheng
- Name En
- Hyperammonemia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasis
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
- Hpo Class Name
- Abnormality of metabolism/homeostasis
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to pr
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperammonemia
Role
preferred
Name
Argininosuccinic Aciduria
Role
preferred
Name
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Role
preferred
Name
Carbamoyl-Phosphate Synthetase 1 Deficiency
Role
preferred
Name
Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency
Role
preferred
Name
Urea Cycle Disorders, Inborn
Role
preferred
Name
Argininemia
Role
preferred
Name
Carbamoyl Phosphate Synthase 1 Deficiency
Role
preferred
Name
Carbamoyl-Phosphate Synthase I Deficiency Disease
Role
preferred
Name
ASA Deficiency
Role
alias
Name
ASL Deficiency
Role
alias
Name
Argininosuccinase Deficiency
Role
alias
Name
Argininosuccinatelyase Deficiency
Role
alias
Name
Argininosuccinic Acid Lyase Deficiency
Role
alias
Name
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
Role
alias
Name
CPS I DEFICIENCY
Role
alias
Name
CPS1 Deficiency
Role
alias
Name
CPS1D
Role
alias
Name
Carbamoyl Phosphate Synthetase I Deficiency Disease
Role
alias
Name
Carbamoyl-phosphate Synthetase Deficiency
Role
alias
Name
Disorders of Urea Cycle Metabolism
Role
alias
Name
High Blood Ammonia Levels
Role
alias
Name
Urea Cycle Disorder
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001987
Herb
HBDIS003853HBDIS004544HBDIS006350HBDIS011444HBDIS025520HBDIS025561
Me Sh
D020165D022124D056806D056807
Omim
207900237300
Umls
C0154246C0268547C0268548C0751753C4082171
Icd10
E72.2E72.20
Med Dra
100582971005829910062695
Sym Map
SMDE00026SMDE00664SMDE02845SMDE04701SMDE09587SMDE14103
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0154246C0220994C0268547C0751753C4082171C4085580
Orphanet
1472390
Umls Sty
T047
Hpo Class
HP:0001939
Me Sh Class
C10C16C18C23
Etcm Disease
ArgininemiaCarbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to
Tcmbank Disease
1181587816134211282294632486
Itcmdb Generated
ITX-DISEASE-2BC996C17AC9ITX-DISEASE-BDE6E45763E7ITX-DISEASE-FB9590395EAA
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Argininemia Details pageDisease Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of metabolism/homeostasis
Do Disease Class
genetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasis
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Argininemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Name
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases;Respiratory diseases
Disease Definition
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to prArgininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting,Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs fNCI2016_02D:A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.|MSH2017_2016_08_12: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)|CSP2006:genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders.NCI2016_02D:A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.|MSH2017_2016_08_12:Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.|CSP2006:inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms
Umls Semantic Type Name
Disease or Syndrome