Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
heavy drinking
|
disease |
|
Mental or Behavioral Dysfunction
|
57
|
7
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Progressive brain disease
|
disease |
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Rapidly progressive
|
phenotype |
|
Finding
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Granular osmiophilic deposits (GROD) in cells
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased neuronal autofluorescent lipopigment
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cleft Soft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
13
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.180 |
None |
0.909 |
11 |
1
|
2001 |
2017 |
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
|
0.700 |
None |
1.000 |
5 |
2
|
2011 |
2013 |
Adult Neuronal Ceroid Lipofuscinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
9
|
0.020 |
None |
1.000 |
2 |
1
|
2011 |
2015 |
Neuronal Ceroid Lipofuscinosis Type 4B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.320 |
moderate |
1.000 |
2 |
|
2012 |
2013 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Malaria
|
disease |
Infections
|
Disease or Syndrome
|
685
|
148
|
0.100 |
None |
1.000 |
10 |
|
2011 |
2019 |
Malaria, Vivax
|
disease |
Infections
|
Disease or Syndrome
|
60
|
2
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Coinfection
|
phenotype |
Infections
|
Disease or Syndrome
|
252
|
11
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Encephalomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
865
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |