Niemann-Pick Disease, Type C1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
43
|
192
|
1.000 |
strong |
0.994 |
180 |
192
|
1988 |
2020 |
Niemann-Pick Disease, Type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
201
|
33
|
0.900 |
strong |
0.994 |
157 |
22
|
1997 |
2019 |
Niemann-Pick Disease, Type D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
1
|
0.810 |
moderate |
1.000 |
4 |
1
|
1998 |
2017 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.480 |
None |
1.000 |
8 |
1
|
2009 |
2018 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.460 |
None |
1.000 |
7 |
|
1999 |
2019 |
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.400 |
None |
1.000 |
1 |
|
2011 |
2011 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.350 |
None |
1.000 |
6 |
|
2007 |
2019 |
Liver Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1182
|
189
|
0.310 |
None |
1.000 |
2 |
|
2011 |
2019 |
External Ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
6
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysarthria, Mixed
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Liver Dysfunction
|
phenotype |
Digestive System Diseases
|
Finding
|
73
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ataxia, Appendicular
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
86
|
5
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tremor, Rubral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Internal Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysarthria, Scanning
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Atherogenesis
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
59
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysarthria, Guttural
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysarthria, Spastic
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
30
|
1
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ataxia, Truncal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
68
|
13
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Dysarthria, Flaccid
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Abnormal coordination
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
59
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |