Hyperammonemia, type III
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
18
|
0.760 |
definitive |
1.000 |
13 |
18
|
1971 |
2018 |
Increased level of L-glutamic acid in blood
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Reye syndrome-like episodes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperglutaminemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Acute hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Unconscious State
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Urea Cycle Disorders, Inborn
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neonatal disorder
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
15
|
4
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Propionic acidemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
17
|
124
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Lysinuric Protein Intolerance
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
21
|
47
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Mastitis-metritis-agalactia syndrome
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
23
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Drowsiness
|
phenotype |
Mental Disorders
|
Finding
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Psychotic episodes
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
31
|
6
|
0.100 |
None |
|
0 |
|
|
|
Hyper-beta-alaninemia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Echolalia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Methylmalonic acidemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
44
|
35
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
59
|
|
0.100 |
None |
|
0 |
|
|
|
Decrease in appetite
|
phenotype |
Digestive System Diseases; Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
62
|
7
|
0.100 |
None |
|
0 |
|
|
|
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
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 |
|
|
|
Comatose
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
78
|
1
|
0.100 |
None |
|
0 |
|
|
|
Phenylketonurias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
83
|
46
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Agitation, CTCAE 3.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|
Somnolence
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Mental or Behavioral Dysfunction
|
87
|
8
|
0.100 |
None |
|
0 |
|
|
|
Agitation, CTCAE 5.0
|
phenotype |
|
Finding
|
87
|
|
0.100 |
None |
|
0 |
|
|
|