Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cavitation
|
disease |
|
Anatomical Abnormality
|
47
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mitochondrial abnormalities
|
disease |
|
Anatomical Abnormality
|
83
|
20
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Abnormal upper motor neuron morphology
|
disease |
|
Anatomical Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Nerve Degeneration
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
165
|
17
|
0.100 |
None |
|
0 |
|
|
|
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2014 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.700 |
None |
0.981 |
310 |
16
|
2009 |
2020 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.100 |
None |
1.000 |
61 |
|
2009 |
2020 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.200 |
None |
0.947 |
57 |
|
2009 |
2020 |
Amyotrophic Lateral Sclerosis, Familial
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
130
|
68
|
0.100 |
None |
0.980 |
51 |
2
|
2009 |
2019 |
GRN-related frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
112
|
20
|
0.100 |
None |
1.000 |
30 |
1
|
2010 |
2019 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.100 |
None |
1.000 |
26 |
1
|
2010 |
2018 |
Pick Disease of the Brain
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
83
|
0.100 |
None |
0.913 |
23 |
|
2010 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS 1
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
164
|
139
|
0.100 |
None |
1.000 |
19 |
3
|
2009 |
2016 |
Essential Tremor
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
122
|
79
|
0.100 |
None |
0.941 |
17 |
6
|
2012 |
2019 |
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
|
disease |
|
Disease or Syndrome
|
27
|
67
|
0.430 |
None |
1.000 |
16 |
16
|
2009 |
2016 |
Amyotrophic Lateral Sclerosis, Sporadic
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
173
|
90
|
0.100 |
None |
1.000 |
16 |
|
2010 |
2017 |
Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.100 |
None |
1.000 |
14 |
1
|
2009 |
2019 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.100 |
None |
1.000 |
10 |
|
2009 |
2019 |
TREMOR, HEREDITARY ESSENTIAL, 4
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
10 |
4
|
2009 |
2014 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.090 |
None |
0.889 |
9 |
6
|
2014 |
2020 |
Juvenile amyotrophic lateral sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
1
|
0.350 |
None |
1.000 |
8 |
1
|
2010 |
2018 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
7 |
1
|
2009 |
2015 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.060 |
None |
1.000 |
6 |
|
2015 |
2020 |