Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.330 |
None |
1.000 |
4 |
1
|
2000 |
2019 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.520 |
strong |
1.000 |
4 |
|
2007 |
2019 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.320 |
None |
0.667 |
3 |
2
|
2009 |
2013 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.020 |
None |
1.000 |
2 |
|
1991 |
1993 |
Brain Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
345
|
10
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Heart Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
537
|
45
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Parasitic Diseases
|
group |
Infections
|
Disease or Syndrome
|
164
|
2
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Parasitic infection
|
group |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
39
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Leukoencephalopathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
189
|
17
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
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 |
Liver Dysfunction
|
phenotype |
Digestive System Diseases
|
Finding
|
73
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Glycosuria
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
53
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
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 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea on exertion
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
102
|
3
|
0.100 |
None |
|
0 |
|
|
|
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Impaired exercise tolerance
|
phenotype |
|
Finding
|
76
|
7
|
0.100 |
None |
|
0 |
|
|
|
Facial Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Sign or Symptom
|
44
|
2
|
0.100 |
None |
|
0 |
|
|
|