Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
31
|
24
|
0.100 |
None |
1.000 |
1 |
4
|
2017 |
2017 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
56
|
29
|
0.100 |
None |
1.000 |
1 |
3
|
2017 |
2017 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Urogenital Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
42
|
3
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Congenital digestive system anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
2
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Polysomnography
|
phenotype |
|
Diagnostic Procedure
|
119
|
249
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.040 |
None |
1.000 |
4 |
6
|
2005 |
2019 |
Bronchopulmonary Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Disease or Syndrome
|
423
|
112
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Transient Ischemic Attack
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
344
|
16
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hepatolenticular Degeneration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
146
|
349
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Movement Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
362
|
247
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Angelman Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
94
|
135
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mandibulofacial Dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
42
|
30
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Infarction, Middle Cerebral Artery
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
145
|
|
0.200 |
None |
1.000 |
1 |
|
2004 |
2004 |
Lewy Body Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
255
|
41
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hepatic Form of Wilson Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Gross motor development delay
|
disease |
Mental Disorders
|
Disease or Syndrome
|
118
|
59
|
0.100 |
None |
1.000 |
1 |
8
|
2017 |
2017 |