Optic Atrophy, Hereditary, Leber
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
100
|
46
|
0.900 |
None |
1.000 |
30 |
11
|
1992 |
2019 |
MELAS Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
80
|
53
|
0.710 |
None |
1.000 |
1 |
4
|
2001 |
2001 |
Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.470 |
None |
1.000 |
15 |
5
|
1994 |
2019 |
LEBER OPTIC ATROPHY AND DYSTONIA
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
5
|
0.400 |
None |
1.000 |
2 |
2
|
1994 |
1996 |
Leber plus disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
2
|
0.300 |
None |
1.000 |
2 |
|
1994 |
1996 |
Maternally Inherited Leigh Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
12
|
1
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2013 |
Optic Atrophies, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
1999 |
1999 |
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.300 |
None |
|
0 |
|
|
|
Chemical and Drug Induced Liver Injury
|
disease |
Digestive System Diseases; Chemically-Induced Disorders
|
Disease or Syndrome
|
461
|
38
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.180 |
None |
1.000 |
9 |
1
|
1994 |
2016 |
Disorder of the optic nerve
|
group |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
112
|
2
|
0.150 |
None |
1.000 |
5 |
|
1997 |
2008 |
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.110 |
None |
1.000 |
1 |
1
|
1994 |
1994 |
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Anxiety
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1048
|
287
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Oxyphilic Adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
114
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.100 |
None |
|
0 |
|
|
|
Blurred Vision, CTCAE
|
phenotype |
|
Finding
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Spontaneous hematomas
|
disease |
|
Disease or Syndrome
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Episodic vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
43
|
10
|
0.100 |
None |
|
0 |
|
|
|