Xeroderma pigmentosum, group G
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
20
|
31
|
1.000 |
definitive |
1.000 |
21 |
22
|
1975 |
2016 |
Cerebrooculofacioskeletal Syndrome 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
1
|
0.600 |
None |
1.000 |
2 |
1
|
1997 |
2014 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.430 |
None |
1.000 |
3 |
1
|
2006 |
2015 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.400 |
None |
1.000 |
21 |
5
|
1994 |
2019 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.340 |
None |
1.000 |
4 |
2
|
2006 |
2018 |
Cerebrooculofacioskeletal Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
7
|
58
|
0.320 |
None |
1.000 |
2 |
|
2001 |
2014 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
507
|
248
|
0.320 |
None |
1.000 |
2 |
|
2006 |
2011 |
Xeroderma Pigmentosum, Type G-Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
1.000 |
2 |
3
|
1999 |
2004 |
CAMFAK syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Pena Shokeir syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Basal cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
108
|
109
|
0.300 |
None |
|
0 |
|
|
|
Xeroderma pigmentosum and Cockayne syndrome complex
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
6
|
0.120 |
None |
1.000 |
2 |
1
|
2006 |
2016 |
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.110 |
None |
1.000 |
1 |
|
1994 |
1994 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Cockayne Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
85
|
11
|
0.100 |
None |
1.000 |
18 |
1
|
1993 |
2015 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.100 |
None |
1.000 |
14 |
7
|
2009 |
2018 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.100 |
None |
1.000 |
14 |
7
|
2009 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
0.929 |
14 |
7
|
2003 |
2018 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.100 |
None |
0.846 |
13 |
12
|
2003 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.100 |
None |
0.846 |
13 |
12
|
2003 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.100 |
None |
0.917 |
12 |
7
|
2003 |
2018 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.100 |
None |
0.917 |
12 |
5
|
2009 |
2019 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.100 |
None |
1.000 |
12 |
5
|
2006 |
2017 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.100 |
None |
0.909 |
11 |
4
|
2000 |
2019 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.100 |
None |
0.909 |
11 |
4
|
2000 |
2019 |