Abnormal eating behavior
|
phenotype |
|
Mental or Behavioral Dysfunction
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Acute hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
5
|
1
|
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 |
Aggressive behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
176
|
22
|
0.100 |
None |
|
0 |
|
|
|
Alkaline phosphatase raised
|
phenotype |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Finding
|
55
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Asterixis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Cerebral Edema
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Cholestasis, progressive familial intrahepatic 1
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
38
|
19
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Cholestatic hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
7
|
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2015 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
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
|
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 |
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 |
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 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Confusion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2014 |
Conjugated hyperbilirubinemia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
32
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |