Motor neuron atrophy
|
disease |
|
Disease or Syndrome
|
138
|
21
|
0.040 |
None |
1.000 |
4 |
|
1999 |
2000 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
3 |
3
|
2015 |
2017 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
2 |
2
|
2017 |
2018 |
response to simvastatin
|
phenotype |
|
Cell Function
|
21
|
37
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Progressive psychomotor deterioration
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Generalized cerebral atrophy/hypoplasia
|
disease |
|
Disease or Syndrome
|
14
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Increased neuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Irritability, CTCAE
|
phenotype |
|
Finding
|
140
|
|
0.100 |
None |
|
0 |
|
|
|
Irritable Mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
142
|
1
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Irritation - emotion
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
147
|
14
|
0.100 |
None |
|
0 |
|
|
|
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.400 |
None |
1.000 |
33 |
4
|
1986 |
2019 |
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
43
|
0.940 |
None |
1.000 |
22 |
43
|
1986 |
2019 |
Northern epilepsy syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.760 |
strong |
1.000 |
10 |
2
|
1999 |
2017 |
Late-Infantile Neuronal Ceroid Lipfuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
4
|
0.240 |
None |
1.000 |
9 |
|
1986 |
2016 |
Juvenile Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
52
|
73
|
0.210 |
None |
1.000 |
6 |
|
1986 |
2018 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.200 |
None |
1.000 |
5 |
|
1986 |
1999 |
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.110 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Ceroid Lipofuscinosis, Neuronal, 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
23
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|