COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
2
|
78
|
0.700 |
None |
1.000 |
57 |
78
|
1994 |
2017 |
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
|
disease |
|
Disease or Syndrome
|
2
|
6
|
0.100 |
None |
|
0 |
3
|
|
|
Sebaceous Gland Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of ureter
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
COLORECTAL CANCER, SOMATIC
|
disease |
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Malignant genitourinary tract tumor
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Hamartomatous polyp
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ureter Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Atypical adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Constitutional Mismatch Repair Deficiency Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
6
|
1
|
0.340 |
definitive |
1.000 |
16 |
|
1997 |
2019 |
Axillary freckling
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
6
|
12
|
0.100 |
None |
|
0 |
|
|
|
Adult only
|
phenotype |
|
Finding
|
6
|
|
0.300 |
strong |
|
0 |
|
|
|
Microsatellite instability-high solid malignant tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Torre-Muir syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
8
|
20
|
0.570 |
None |
1.000 |
9 |
|
2007 |
2020 |
Childhood Gliomatosis Cerebri
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
6
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Undifferentiated round cell sarcoma
|
disease |
|
Neoplastic Process
|
9
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Familial Atypical Multiple Mole-Melanoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Neu-Laxova syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Gliomatosis cerebri
|
disease |
Neoplasms
|
Neoplastic Process
|
10
|
6
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Carcinoma of peritoneum
|
disease |
|
Neoplastic Process
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Sebaceous adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
11
|
6
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant tumor of small intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
11
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Endocervical adenocarcinoma
|
disease |
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Endocervical Carcinoma
|
disease |
|
Neoplastic Process
|
14
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Familial Colorectal Cancer Type X
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases
|
Neoplastic Process
|
14
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |