Citrullinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.900 |
definitive |
1.000 |
33 |
2
|
1982 |
2020 |
Citrullinemia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
85
|
0.800 |
definitive |
1.000 |
63 |
85
|
1982 |
2019 |
Argininosuccinic Acid Synthetase Deficiency, Complete
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.550 |
definitive |
1.000 |
14 |
1
|
1982 |
2017 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2009 |
2009 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.380 |
None |
1.000 |
9 |
|
1999 |
2019 |
Microangiopathy, Diabetic
|
disease |
Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
4
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Diabetic Angiopathies
|
disease |
Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
106
|
7
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Argininosuccinic Acid Synthetase Deficiency Disease, Partial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Endotoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
401
|
5
|
0.210 |
None |
1.000 |
2 |
|
2000 |
2011 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adverse reaction to drug
|
group |
Chemically-Induced Disorders
|
Pathologic Function
|
87
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Uveitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
247
|
43
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Acute-Phase Reaction
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
24
|
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hyperoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
50
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.100 |
None |
0.962 |
26 |
|
1993 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
14 |
|
2011 |
2019 |
Adult-onset citrullinemia type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
15
|
0.100 |
None |
0.909 |
11 |
|
1995 |
2018 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.100 |
None |
0.900 |
10 |
|
2002 |
2019 |
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic ammonia intoxication
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperglutaminemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|