Abnormality of brain morphology
|
phenotype |
|
Anatomical Abnormality
|
104
|
131
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Gaucher Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
143
|
82
|
0.100 |
None |
1.000 |
17 |
1
|
1990 |
2019 |
Leukodystrophy, Metachromatic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
27
|
158
|
0.300 |
None |
1.000 |
17 |
2
|
1990 |
2019 |
Metachromatic Leukodystrophy due to Saposin B Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
7
|
0.710 |
strong |
1.000 |
10 |
7
|
1990 |
2019 |
Globoid cell leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
111
|
0.250 |
None |
1.000 |
8 |
|
2001 |
2020 |
Combined Saposin Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.710 |
strong |
1.000 |
8 |
3
|
1978 |
2016 |
KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.620 |
strong |
1.000 |
6 |
1
|
2000 |
2020 |
Sphingolipidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.050 |
None |
1.000 |
5 |
|
1992 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
4 |
1
|
2005 |
2016 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2017 |
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
6
|
0.700 |
strong |
1.000 |
4 |
6
|
1991 |
2016 |
Oral candidiasis
|
disease |
Infections; Stomatognathic Diseases
|
Disease or Syndrome
|
58
|
2
|
0.030 |
None |
1.000 |
3 |
|
1998 |
2019 |
Candidiasis
|
disease |
Infections
|
Disease or Syndrome
|
95
|
8
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
74
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2017 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2018 |
Vesicular Stomatitis
|
disease |
Infections; Stomatognathic Diseases; Animal Diseases
|
Disease or Syndrome
|
112
|
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2020 |
Candidiasis, Vulvovaginal
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections
|
Disease or Syndrome
|
57
|
1
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2007 |
Infantile Globoid Cell Leukodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.310 |
None |
1.000 |
2 |
|
2005 |
2020 |
Metachromatic Leukodystrophy, Infant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
10
|
0.310 |
None |
1.000 |
2 |
|
2014 |
2019 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |