Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
112
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Carbamoyl Phosphate Synthase 1 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Aspartate Aminotransferase Increased
|
phenotype |
Digestive System Diseases
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic ammonia intoxication
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoargininemia
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Protein avoidance
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperglutaminemia
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Alkalosis, Respiratory
|
phenotype |
Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Orotic aciduria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Finding
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Clastothrix
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Argininosuccinic Aciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
84
|
1.000 |
definitive |
1.000 |
47 |
84
|
1976 |
2019 |
Recurrent Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperargininemia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
11
|
26
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dry hair
|
phenotype |
|
Finding
|
12
|
2
|
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
|
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2019 |
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
21
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cerebral Edema
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Mast-Cell Sarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
27
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neonatal onset
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal hair quantity
|
disease |
|
Anatomical Abnormality
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Thrombosis of cerebral veins
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Brittle hair
|
disease |
|
Disease or Syndrome
|
45
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
50
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hypoxia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
59
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |