Aminoacidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Perinatal jaundice due to inspissated bile syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperthreoninemia
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated plasma citrulline
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased body mass index
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
3
|
3
|
0.100 |
None |
|
0 |
|
|
|
Increased urinary glycerol
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated gamma-glutamyltransferase activity
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypergalactosemia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Citrin deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
10
|
0.200 |
None |
1.000 |
40 |
10
|
1999 |
2020 |
Citrullinemia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
85
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hyperlysinemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Acute hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed menarche
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Citrullinemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.080 |
None |
1.000 |
8 |
|
2002 |
2014 |
Cholestatic hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
7
|
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2015 |
Asterixis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Refractory Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
9
|
2
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
CITRULLINEMIA, TYPE II, NEONATAL-ONSET
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
13
|
0.800 |
None |
1.000 |
28 |
13
|
2002 |
2020 |
Fluctuations in consciousness
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased HDL cholesterol concentration
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.700 |
None |
0.983 |
58 |
15
|
1999 |
2020 |
Elevated alpha-fetoprotein
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypermethioninemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Night sweats
|
phenotype |
|
Sign or Symptom
|
17
|
|
0.100 |
None |
|
0 |
|
|
|