Abnormal hair whorl
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the cerebral vasculature
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the thorax
|
disease |
|
Anatomical Abnormality
|
40
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Acral Lentiginous Malignant Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acute Erythroblastic Leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
302
|
5
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Adult Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
504
|
46
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Adult Erythroleukemia
|
disease |
|
Neoplastic Process
|
236
|
4
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Adult Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
405
|
30
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult Myelodysplastic Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
332
|
20
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
After-cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
22
|
2
|
0.010 |
None |
1.000 |
1 |
2
|
2013 |
2013 |
Age-related cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
92
|
15
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
AICARDI-GOUTIERES SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
117
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
AIDS related complex
|
disease |
Infections; Immune System Diseases
|
Disease or Syndrome
|
100
|
43
|
0.030 |
None |
1.000 |
3 |
6
|
2013 |
2018 |
Aplasia/Hypoplasia of the skin
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the testes
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.020 |
None |
1.000 |
2 |
1
|
2000 |
2009 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.120 |
None |
1.000 |
2 |
1
|
2000 |
2009 |
Atypical Werner syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
4
|
4
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2009 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.020 |
None |
1.000 |
2 |
4
|
2013 |
2013 |
Bloom Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
155
|
132
|
0.100 |
None |
1.000 |
14 |
1
|
1996 |
2017 |
Breast Cancer, Familial
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
183
|
91
|
0.020 |
None |
1.000 |
2 |
1
|
2006 |
2007 |