MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.600 |
None |
1.000 |
1 |
|
1991 |
1991 |
PARKINSON DISEASE, MITOCHONDRIAL (disorder)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
|
0 |
|
|
|
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.110 |
None |
1.000 |
5 |
1
|
1993 |
2018 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Memory impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
763
|
48
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Abnormal color vision
|
phenotype |
|
Finding
|
5
|
5
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Seizures, Focal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
210
|
15
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Hyperreflexia in upper limbs
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Abnormality of the cerebral cortex
|
disease |
|
Anatomical Abnormality
|
11
|
8
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Secondary physiologic amenorrhea
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
58
|
2
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
4 |
1
|
1993 |
2018 |
MERRF Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Severe global developmental delay
|
phenotype |
|
Finding
|
130
|
50
|
0.100 |
None |
|
0 |
|
|
|
Severe lactic acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Generalized neonatal hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Fatal liver failure in infancy
|
phenotype |
Digestive System Diseases
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Neonatal respiratory distress
|
phenotype |
Respiratory Tract Diseases
|
Finding
|
64
|
34
|
0.100 |
None |
|
0 |
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.100 |
None |
|
0 |
2
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|