Xeroderma pigmentosum, variant type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
17
|
0.940 |
definitive |
1.000 |
22 |
17
|
1999 |
2018 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.600 |
None |
1.000 |
38 |
|
1999 |
2019 |
Xeroderma pigmentosum, variant form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.300 |
None |
|
0 |
1
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.110 |
None |
1.000 |
1 |
|
2000 |
2000 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.100 |
None |
1.000 |
10 |
|
2003 |
2019 |
Cutaneous Melanoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
507
|
248
|
0.100 |
None |
|
0 |
|
|
|
Carcinoma, Basal Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
557
|
91
|
0.100 |
None |
|
0 |
|
|
|
Freckles in sun-exposed areas
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Poikiloderma
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Atrophic condition of skin
|
group |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
111
|
4
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dry skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Sign or Symptom
|
159
|
12
|
0.100 |
None |
|
0 |
|
|
|
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.100 |
None |
|
0 |
|
|
|
Telangiectasis
|
disease |
Cardiovascular Diseases
|
Finding
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.100 |
None |
|
0 |
|
|
|
Keratitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
156
|
10
|
0.100 |
None |
|
0 |
|
|
|
Entropion
|
disease |
Eye Diseases
|
Disease or Syndrome
|
18
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ectropion
|
disease |
Eye Diseases
|
Disease or Syndrome
|
50
|
3
|
0.100 |
None |
|
0 |
|
|
|
Conjunctivitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
82
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.070 |
None |
1.000 |
7 |
|
2000 |
2020 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2018 |