Carcinoma, Basal Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
557
|
91
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
spinal cord involvement
|
disease |
|
Disease or Syndrome
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Mitochondrial Encephalomyopathies
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
53
|
11
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Experimental Organism Basal Cell Carcinoma
|
phenotype |
Neoplasms
|
Neoplastic Process
|
437
|
63
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Optic Neuropathy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
8
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
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
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
2
|
2007 |
2007 |
Basal cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
108
|
109
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.020 |
None |
1.000 |
2 |
2
|
2007 |
2018 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2004 |
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS syndrome)
|
disease |
|
Disease or Syndrome
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2018 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2009 |
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
|
0.030 |
None |
1.000 |
3 |
|
2002 |
2006 |
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
|
disease |
|
Disease or Syndrome
|
51
|
4
|
0.040 |
None |
1.000 |
4 |
1
|
2000 |
2011 |
Fetal Distress
|
disease |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
44
|
1
|
0.100 |
None |
|
0 |
|
|
|
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.100 |
None |
|
0 |
|
|
|
Increased CSF lactate
|
phenotype |
|
Finding
|
87
|
1
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Poor eye contact
|
phenotype |
Mental Disorders
|
Finding
|
73
|
6
|
0.100 |
None |
|
0 |
|
|
|
Poor head control
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
162
|
13
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Focal T2 hyperintense brainstem lesion
|
phenotype |
|
Finding
|
33
|
2
|
0.100 |
None |
|
0 |
|
|
|