Telomere Syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.900 |
None |
0.917 |
24 |
15
|
2008 |
2018 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.050 |
None |
0.800 |
5 |
1
|
2008 |
2018 |
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
None |
1.000 |
4 |
7
|
2008 |
2018 |
Carcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2462
|
103
|
0.030 |
None |
0.667 |
3 |
|
2001 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.030 |
None |
1.000 |
3 |
|
2018 |
2018 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2018 |
Platelet Count measurement
|
phenotype |
|
Laboratory Procedure
|
265
|
457
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
REVESZ SYNDROME (disorder)
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
4
|
0.730 |
None |
1.000 |
5 |
3
|
2008 |
2017 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Childhood Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1171
|
66
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adult Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1169
|
66
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Chronic Lymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1447
|
291
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Exudative retinopathy
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
6
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Multiple Myeloma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
1740
|
865
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
HOYERAAL-HREIDARSSON 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; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
16
|
1
|
0.500 |
moderate |
1.000 |
3 |
|
2008 |
2012 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
precancerous lesions
|
phenotype |
|
Neoplastic Process
|
270
|
19
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Nail Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
6
|
1
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Bone Marrow failure syndromes
|
disease |
|
Disease or Syndrome
|
41
|
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |