Xeroderma Pigmentosum, Complementation Group D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
111
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Uterine Fibroids
|
group |
Neoplasms
|
Neoplastic Process
|
569
|
154
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Upward slant of palpebral fissure
|
phenotype |
|
Finding
|
216
|
16
|
0.100 |
None |
|
0 |
|
|
|
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.100 |
None |
|
0 |
|
|
|
Triple-Negative Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1598
|
96
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Triple Negative Breast Neoplasms
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1674
|
99
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2019 |
Triangular face
|
phenotype |
|
Finding
|
111
|
16
|
0.100 |
None |
|
0 |
|
|
|
Thyroid Neoplasm
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1164
|
135
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Telangiectasia of the skin
|
phenotype |
Cardiovascular Diseases
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
|
|
|
Stomach Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
820
|
55
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.020 |
None |
1.000 |
2 |
1
|
2008 |
2015 |
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.010 |
None |
< 0.001 |
1 |
1
|
2016 |
2016 |
Speech Delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
58
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.600 |
strong |
1.000 |
5 |
9
|
2014 |
2018 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |