Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.100 |
None |
1.000 |
17 |
|
1998 |
2019 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.100 |
None |
1.000 |
16 |
|
1998 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
6 |
1
|
2014 |
2017 |
DOWN SYNDROME CRITICAL REGION
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2017 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2018 |
Muscular fasciculation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
99
|
2
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2017 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2011 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.120 |
None |
1.000 |
2 |
2
|
2013 |
2018 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
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 |
|
2000 |
2019 |
Neutrophil count (procedure)
|
phenotype |
|
Laboratory Procedure
|
145
|
234
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Senile Plaques
|
disease |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
249
|
21
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Fasting blood glucose measurement
|
phenotype |
|
Laboratory Procedure
|
96
|
212
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Substance-Related Disorders
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
128
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Estradiol measurement
|
phenotype |
|
Laboratory Procedure
|
21
|
75
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Substance abuse problem
|
disease |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
20
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Drug Resistant Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
184
|
35
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Estradiol level result
|
phenotype |
|
Laboratory or Test Result
|
21
|
75
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Drug Dependence
|
group |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
248
|
31
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arm span
|
phenotype |
|
Finding
|
2
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Prescription Drug Abuse
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Finding
|
115
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Polysomnography
|
phenotype |
|
Diagnostic Procedure
|
119
|
249
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |