Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Ketonuria
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Lethargy
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Sign or Symptom
|
160
|
6
|
0.100 |
None |
|
0 |
|
|
|
Ketosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
119
|
11
|
0.100 |
None |
|
0 |
|
|
|
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
85
|
|
0.100 |
None |
|
0 |
|
|
|
Tachypnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Finding
|
82
|
5
|
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 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Alkalosis, Respiratory
|
phenotype |
Nutritional and Metabolic Diseases; Respiratory Tract Diseases
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
definitive |
1.000 |
4 |
4
|
1995 |
2016 |
Adult Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
509
|
12
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Childhood Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
12
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Enterovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
237
|
12
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2018 |
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pyruvate Carboxylase Deficiency Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
14
|
33
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperammonemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
102
|
8
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Liver Cirrhosis, Experimental
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Experimental Model of Disease
|
870
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Eczema Herpeticum
|
disease |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
21
|
4
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Melanoma, B16
|
disease |
Neoplasms
|
Neoplastic Process; Experimental Model of Disease
|
157
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |