Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.110 |
None |
1.000 |
11 |
2
|
2007 |
2016 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
10 |
1
|
2007 |
2016 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
10 |
2
|
2007 |
2016 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
10 |
2
|
2007 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.370 |
None |
1.000 |
9 |
|
2010 |
2019 |
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.180 |
None |
1.000 |
9 |
1
|
2009 |
2016 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.370 |
None |
1.000 |
8 |
|
2010 |
2019 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 20
|
disease |
|
Disease or Syndrome
|
1
|
15
|
0.600 |
None |
1.000 |
7 |
15
|
2009 |
2016 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
644
|
23
|
0.070 |
None |
1.000 |
7 |
|
2008 |
2017 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.060 |
None |
1.000 |
6 |
|
2014 |
2020 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.050 |
None |
1.000 |
5 |
|
2015 |
2018 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.340 |
None |
1.000 |
5 |
|
2013 |
2018 |
Intelligence
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental Process
|
645
|
2093
|
0.100 |
None |
1.000 |
5 |
9
|
2017 |
2019 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.040 |
None |
1.000 |
4 |
|
2009 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.040 |
None |
1.000 |
4 |
|
2018 |
2019 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.040 |
None |
1.000 |
4 |
|
2018 |
2019 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.410 |
None |
1.000 |
3 |
2
|
2010 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2015 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2015 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.030 |
None |
1.000 |
3 |
|
2009 |
2018 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.120 |
None |
1.000 |
3 |
4
|
2010 |
2018 |
Mental impairment
|
disease |
|
Mental or Behavioral Dysfunction
|
67
|
14
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2019 |
Rett Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
234
|
368
|
0.030 |
None |
1.000 |
3 |
1
|
2012 |
2018 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.320 |
None |
1.000 |
3 |
|
2009 |
2019 |