Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Low IQ
|
phenotype |
|
Mental or Behavioral Dysfunction
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Thin skin
|
phenotype |
|
Finding
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.100 |
None |
|
0 |
|
|
|
Aortic Valve Insufficiency
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
377
|
8
|
0.100 |
None |
|
0 |
|
|
|
Patent ductus arteriosus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
510
|
56
|
0.100 |
None |
|
0 |
|
|
|
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Periventricular Nodular Heterotopia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.420 |
None |
1.000 |
2 |
4
|
2018 |
2019 |
Polymicrogyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
199
|
29
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Galactosemias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
16
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Classical galactosemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
32
|
233
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Pyloric Stenosis
|
phenotype |
Digestive System Diseases
|
Pathologic Function
|
121
|
4
|
0.100 |
None |
|
0 |
|
|
|
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
2
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.200 |
None |
1.000 |
1 |
|
1988 |
1988 |
Iodine deficiency syndrome
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
22
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Proliferative vitreoretinopathy
|
disease |
Eye Diseases
|
Disease or Syndrome
|
142
|
14
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Epiretinal Membrane
|
disease |
Eye Diseases
|
Acquired Abnormality
|
102
|
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Bleeding tendency
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
71
|
14
|
0.100 |
None |
|
0 |
|
|
|
Encephalomyelitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
865
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |