Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
350
|
0.100 |
None |
1.000 |
14 |
1
|
2001 |
2015 |
Li-Fraumeni Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
157
|
0.700 |
None |
0.963 |
9 |
4
|
1999 |
2017 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Hematochezia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
35
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Inflammation of large intestine
|
phenotype |
Digestive System Diseases
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Li-Fraumeni Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
1
|
11
|
0.700 |
None |
1.000 |
0 |
11
|
2001 |
2018 |
increased risk of pancreatic cancer
|
phenotype |
Neoplasms
|
Finding
|
5
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
BREAST AND COLORECTAL CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
7
|
0.100 |
None |
|
0 |
7
|
|
|
COLORECTAL CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
3
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
CANCER OF MULTIPLE TYPES, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
BREAST CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
11
|
24
|
0.100 |
None |
|
0 |
4
|
|
|
PROSTATE CANCER, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
4
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Neoplastic Syndromes, Hereditary
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
67
|
6385
|
0.100 |
None |
1.000 |
106 |
133
|
1999 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
28
|
802
|
0.800 |
None |
0.963 |
85 |
139
|
2001 |
2019 |
Hereditary Breast and Ovarian Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Neoplastic Process
|
17
|
2106
|
0.460 |
None |
1.000 |
25 |
6
|
2003 |
2019 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
5
|
48
|
0.100 |
None |
1.000 |
22 |
1
|
1999 |
2014 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
34
|
314
|
0.500 |
None |
0.964 |
11 |
5
|
2002 |
2017 |
leiomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
1
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Sarcoma
|
group |
Neoplasms
|
Neoplastic Process
|
6
|
6
|
0.110 |
None |
1.000 |
1 |
1
|
2004 |
2011 |
Malignant tumor of colon
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
15
|
37
|
0.470 |
None |
0.857 |
0 |
2
|
2001 |
2009 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
43
|
100
|
0.700 |
limited |
0.885 |
0 |
1
|
2003 |
2019 |
Myeloid Leukemia, Chronic
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
5
|
26
|
0.100 |
None |
|
0 |
1
|
|
|
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
6
|
10
|
0.130 |
None |
1.000 |
0 |
1
|
2001 |
2015 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
25
|
129
|
0.150 |
None |
0.800 |
0 |
1
|
2004 |
2013 |