22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aarskog syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
24
|
0.040 |
None |
0.750 |
4 |
|
2014 |
2019 |
Abnormal response to ACTH stimulation test
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of circulating adrenocorticotropin level
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Age-related cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
92
|
15
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
AIDS related complex
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
100
|
43
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Angle Closure Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
94
|
56
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Anorexia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
242
|
10
|
0.100 |
None |
|
0 |
|
|
|
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.100 |
None |
|
0 |
|
|
|
Benign Prostatic Hyperplasia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
770
|
91
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.070 |
None |
1.000 |
7 |
4
|
2006 |
2014 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.060 |
None |
1.000 |
6 |
|
2011 |
2018 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiac defects
|
group |
|
Disease or Syndrome
|
62
|
2
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.120 |
None |
1.000 |
2 |
|
2011 |
2018 |
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.020 |
None |
1.000 |
2 |
5
|
2011 |
2018 |
Cerebrovascular accident
|
group |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1658
|
591
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Osteosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2208
|
151
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Chronic fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cognition Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
607
|
47
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Colon Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2832
|
275
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |