Psoriasiform lesion
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased lymphocyte proliferation in response to mitogen
|
phenotype |
|
Cell or Molecular Dysfunction
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Acute Coronary Syndrome
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
440
|
139
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Coronary Artery Disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1708
|
1577
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Thyroid associated opthalmopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
211
|
49
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Schimke immunoosseous dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
21
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
X-Linked Combined Immunodeficiency Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
38
|
42
|
0.020 |
None |
1.000 |
2 |
|
1997 |
1998 |
Nevus comedonicus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
31
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Glucocorticoid Receptor Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
104
|
12
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Severe Combined Immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
284
|
46
|
0.500 |
strong |
1.000 |
15 |
8
|
1998 |
2020 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
4
|
14
|
0.700 |
None |
1.000 |
10 |
12
|
1998 |
2016 |
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.530 |
strong |
1.000 |
3 |
1
|
2006 |
2014 |
Cockayne Syndrome, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
80
|
42
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Ulcerative Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1458
|
827
|
0.420 |
None |
1.000 |
3 |
1
|
2011 |
2016 |
Acute pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
435
|
51
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Liver diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1019
|
100
|
0.010 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Autoimmune hepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
190
|
22
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autoimmune Chronic Hepatitis
|
disease |
Digestive System Diseases; Immune System Diseases
|
Disease or Syndrome
|
213
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cow milk allergy
|
phenotype |
Digestive System Diseases; Immune System Diseases
|
Disease or Syndrome
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.100 |
None |
1.000 |
11 |
3
|
2008 |
2018 |
Hepatitis B
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1449
|
519
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hepatitis B, Chronic
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
415
|
84
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |