Trichothiodystrophy Syndromes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
33
|
15
|
0.400 |
None |
1.000 |
31 |
|
1995 |
2019 |
Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.100 |
None |
0.958 |
24 |
|
1994 |
2018 |
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 |
11 |
|
2000 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2006 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.040 |
None |
1.000 |
4 |
|
2001 |
2006 |
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
|
0.040 |
None |
1.000 |
4 |
|
1995 |
2010 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.030 |
None |
1.000 |
3 |
|
1995 |
2018 |
Cortical cataract
|
disease |
Eye Diseases
|
Disease or Syndrome
|
69
|
15
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Xeroderma pigmentosum, group B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
13
|
8
|
0.020 |
None |
1.000 |
2 |
|
1996 |
2018 |
Hamartoma Syndrome, Multiple
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Neoplastic Process
|
270
|
139
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2015 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2020 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2008 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2012 |
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
34
|
8
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Skin Diseases, Genetic
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
57
|
6
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dermatologic disorders
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
617
|
21
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Rift Valley Fever
|
disease |
Digestive System Diseases; Infections; Animal Diseases
|
Disease or Syndrome
|
45
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Progeria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
118
|
41
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Periodontitis
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
682
|
116
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
ABLEPHARON-MACROSTOMIA SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
41
|
14
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Sleeplessness
|
phenotype |
Nervous System Diseases; Mental Disorders
|
Sign or Symptom
|
174
|
30
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |