DiseaseID 1302
瓜氨酸血症
disease
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substa
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Disease: 1Symptom: 10Target: 17Links: 34
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 1302
- Core Entity Id
- 1470
- Source Entity Count
- 1
- Preferred Name
- Citrullinemia
- Name Cn
- 瓜氨酸血症
- Name Pinyin
- Gua An Suan Xue Zheng
- Name En
- Citrullinemia
- 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 Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.|MSH2017_2016_08_12: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)|CSP2006:autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Citrullinemia
Role
preferred
Name
Citrullinemia, Classic
Role
preferred
Name
Citrullinemia, Type Ii, Neonatal-Onset
Role
preferred
Name
Adult-Onset Citrullinemia Type 2
Role
preferred
Name
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
Role
preferred
Name
Argininosuccinic Acid Synthetase Deficiency, Complete
Role
preferred
Name
Citrullinemia Type 1
Role
preferred
Name
ARGININOSUCCINATE SYNTHETASE DEFICIENCY
Role
alias
Name
ASS DEFICIENCY
Role
alias
Name
CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY
Role
alias
Name
CITRULLINEMIA, TYPE I
Role
alias
Name
CITRULLINURIA
Role
alias
Name
CTLN1
Role
alias
Name
Citrullinemia, Type Ii, Adult-Onset
Role
alias
Name
NICCD
Role
alias
Name
Neonatal-Onset Citrullinemia Type 2
Role
alias
Name
Neonatal-Onset Citrullinemia Type Ii
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS004174HBDIS011442HBDIS011443HBDIS016997HBDIS018061HBDIS027789
Me Sh
D020159
Omim
215700603471605814
Umls
C0175683C1853942
Icd10
E72.23
Sym Map
SMDE01918SMDE03314
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0175683C0751750C0751751C1853942C1863844C4721769
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Citrullinemia, Type Ii, Neonatal-Onset
Tcmbank Disease
110121430175362231027884309
Itcmdb Generated
ITX-DISEASE-800AA1CDC5CEITX-DISEASE-E0A6CE92E158
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Citrullinemia, Type Ii, Neonatal-Onset Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Citrullinemia, Type Ii, Neonatal-Onset
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases
Disease Definition
NCI2016_02D:A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood.|MSH2017_2016_08_12: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)|CSP2006:autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome