Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
von Willebrand Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
62
|
78
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Li-Fraumeni-Like Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Acute Chest Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
405
|
135
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Angioedemas, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
54
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.050 |
None |
1.000 |
5 |
|
2011 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.050 |
None |
1.000 |
5 |
|
2011 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2018 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2018 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hodgkin Disease
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
900
|
148
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Kaposi Sarcoma
|
disease |
Neoplasms; Infections
|
Neoplastic Process
|
488
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2016 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2016 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Rigor - Temperature-associated observation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
24
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.020 |
None |
1.000 |
2 |
1
|
2017 |
2019 |