KUFOR-RAKEB SYNDROME
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
11
|
16
|
1.000 |
None |
0.981 |
54 |
15
|
1991 |
2019 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.500 |
None |
1.000 |
34 |
|
2003 |
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 |
13 |
|
2011 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
1
|
2006 |
2014 |
Young onset Parkinson disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
51
|
32
|
0.080 |
None |
1.000 |
8 |
|
2007 |
2018 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.170 |
None |
1.000 |
7 |
|
2006 |
2019 |
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.710 |
None |
1.000 |
7 |
7
|
2006 |
2018 |
Presenile dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
718
|
159
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2019 |
Autosomal Recessive Parkinsonism
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
33
|
1
|
0.340 |
None |
1.000 |
5 |
|
2008 |
2013 |
Neurodegeneration with brain iron accumulation (NBIA)
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.050 |
None |
1.000 |
5 |
|
2010 |
2012 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.050 |
None |
1.000 |
5 |
|
2011 |
2018 |
Dystonia Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
167
|
37
|
0.040 |
None |
0.750 |
4 |
|
2010 |
2019 |
Parkinsonism, Juvenile
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
40
|
2
|
0.330 |
None |
1.000 |
4 |
1
|
2007 |
2020 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
4 |
2
|
2010 |
2019 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.130 |
None |
1.000 |
3 |
|
2011 |
2014 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.310 |
None |
1.000 |
3 |
|
2011 |
2012 |
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
67
|
37
|
0.320 |
None |
1.000 |
3 |
|
2012 |
2013 |
Spastic Paraplegia, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
123
|
41
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Infantile neuronal ceroid lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
22
|
4
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2012 |
Henoch-Schoenlein Purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
198
|
59
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |
Ceroid Lipofuscinosis, Neuronal, Parry Type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
5
|
2
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2012 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2014 |
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 |
|
2018 |
2019 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
247
|
76
|
0.020 |
None |
0.500 |
2 |
|
2009 |
2010 |
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
|
0.300 |
None |
1.000 |
2 |
|
2011 |
2012 |