NIEMANN-PICK DISEASE, TYPE C2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
22
|
0.780 |
None |
1.000 |
24 |
22
|
2000 |
2018 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.400 |
None |
1.000 |
1 |
|
2001 |
2001 |
Niemann-Pick Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
23
|
0.210 |
None |
1.000 |
1 |
|
2013 |
2013 |
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
|
0.200 |
None |
1.000 |
55 |
9
|
2000 |
2020 |
Pulmonary Alveolar Proteinosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
51
|
7
|
0.140 |
None |
1.000 |
4 |
2
|
2010 |
2019 |
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.120 |
None |
1.000 |
2 |
|
2016 |
2017 |
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Nasopharyngeal carcinoma
|
disease |
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
1553
|
320
|
0.100 |
None |
1.000 |
14 |
|
2001 |
2020 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.100 |
None |
1.000 |
10 |
|
2011 |
2019 |
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Stereotypic Movement Disorder
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
192
|
26
|
0.100 |
None |
|
0 |
|
|
|
Dysarthria
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
487
|
54
|
0.100 |
None |
|
0 |
|
|
|
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.100 |
None |
|
0 |
1
|
|
|
Psychotic Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
560
|
179
|
0.100 |
None |
|
0 |
|
|
|
Loss of speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
37
|
8
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Fetal ascites
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
6
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spasticity, CTCAE
|
phenotype |
|
Finding
|
477
|
|
0.100 |
None |
|
0 |
|
|
|
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Neurofibrillary degeneration (morphologic abnormality)
|
phenotype |
|
Cell or Molecular Dysfunction
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Stereotyped Behavior
|
disease |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
135
|
|
0.100 |
None |
|
0 |
|
|
|