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 |
23 |
|
1993 |
2019 |
Mucopolysaccharidoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
48
|
7
|
0.100 |
None |
0.929 |
14 |
|
1992 |
2019 |
Sudden infant death syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
140
|
68
|
0.090 |
None |
1.000 |
9 |
|
1985 |
2019 |
Mucopolysaccharidosis, MPS-IV-A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
90
|
0.080 |
None |
1.000 |
8 |
|
2003 |
2019 |
Mucopolysaccharidosis Type IIIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
25
|
69
|
0.050 |
None |
1.000 |
5 |
|
2003 |
2019 |
Pfaundler-Hurler Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
36
|
90
|
0.130 |
None |
1.000 |
3 |
|
1999 |
2016 |
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2015 |
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
206
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2013 |
Mucopolysaccharidosis VI
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
11
|
124
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2020 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2019 |
CUI: |
C0003578 |
Disease: |
Apnea
|
Apnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
262
|
11
|
0.020 |
None |
1.000 |
2 |
|
1983 |
1986 |
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2014 |
Depressive Symptoms
|
phenotype |
Behavior and Behavior Mechanisms
|
Sign or Symptom
|
421
|
120
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
66
|
201
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Fasting Hypoglycemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
39
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Carnitine-Acylcarnitine Translocase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
16
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Ventricular arrhythmia
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
176
|
37
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |