Ceroid Lipofuscinosis, Neuronal, 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
23
|
0.970 |
None |
1.000 |
19 |
23
|
2007 |
2019 |
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 |
12 |
2
|
2004 |
2020 |
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
|
0.370 |
None |
1.000 |
8 |
1
|
1999 |
2015 |
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.720 |
None |
1.000 |
3 |
4
|
2015 |
2019 |
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 |
2 |
|
2014 |
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 |
1 |
|
2014 |
2014 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pick Disease of the Brain
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
213
|
83
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hereditary macular dystrophy
|
disease |
|
Congenital Abnormality
|
39
|
10
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Macular dystrophy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
52
|
59
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Frontotemporal Lobar Degeneration
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
195
|
54
|
0.010 |
None |
1.000 |
1 |
|
2019 |
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
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Optic Atrophy
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
568
|
51
|
0.100 |
None |
|
0 |
|
|
|
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Dyssomnias
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
236
|
10
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
|
0 |
|
|
|
Generalized myoclonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
105
|
8
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.110 |
None |
1.000 |
5 |
3
|
2009 |
2019 |