Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.330 |
None |
1.000 |
4 |
1
|
2000 |
2019 |
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Motor delay
|
phenotype |
Mental Disorders
|
Finding
|
384
|
34
|
0.100 |
None |
|
0 |
|
|
|
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Myasthenia Gravis
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
336
|
93
|
0.010 |
None |
1.000 |
1 |
|
1991 |
1991 |
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2001 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.520 |
strong |
1.000 |
4 |
|
2007 |
2019 |
Liver Failure, Acute
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
282
|
21
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.100 |
None |
|
0 |
|
|
|
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.100 |
None |
|
0 |
|
|
|
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.030 |
None |
0.667 |
3 |
2
|
2009 |
2017 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Increased serum lactate
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
169
|
2
|
0.100 |
None |
|
0 |
|
|
|
Parasitic Diseases
|
group |
Infections
|
Disease or Syndrome
|
164
|
2
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abscess
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
96
|
1
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Respiratory insufficiency due to muscle weakness
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
85
|
3
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Liver Dysfunction
|
phenotype |
Digestive System Diseases
|
Finding
|
73
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|