Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Inattention
|
phenotype |
|
Mental or Behavioral Dysfunction
|
66
|
22
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Decreased liver function
|
phenotype |
|
Finding
|
59
|
5
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Recurrent ear infections
|
group |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Type I transferrin isoform profile
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Neurodevelopmental delay
|
phenotype |
|
Finding
|
39
|
24
|
0.100 |
None |
|
0 |
|
|
|
CNS hypomyelination
|
phenotype |
|
Finding
|
32
|
6
|
0.100 |
None |
|
0 |
|
|
|
Vascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
688
|
40
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Drug usage
|
phenotype |
Chemically-Induced Disorders; Mental Disorders
|
Mental or Behavioral Dysfunction
|
170
|
21
|
0.030 |
None |
0.667 |
3 |
|
2018 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital disorder of glycosylation type 1r
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
1 |
3
|
2012 |
2012 |
Non-alcoholic Fatty Liver Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1058
|
222
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.100 |
None |
|
0 |
|
|
|
Gastroesophageal reflux disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
446
|
52
|
0.100 |
None |
|
0 |
|
|
|
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.030 |
None |
1.000 |
3 |
|
2016 |
2019 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Complications of Diabetes Mellitus
|
group |
Endocrine System Diseases
|
Disease or Syndrome
|
240
|
35
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |