Autosomal dominant retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
85
|
65
|
0.040 |
None |
1.000 |
4 |
2
|
2010 |
2016 |
RETINITIS PIGMENTOSA 42
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
4 |
3
|
2009 |
2011 |
Crisponi syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
14
|
0.530 |
None |
0.667 |
3 |
|
2016 |
2019 |
Chronic Lymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1447
|
291
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2017 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.020 |
None |
1.000 |
2 |
|
2006 |
2017 |
Bohring syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
5
|
15
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2019 |
Dermatofibrosis lenticularis disseminata
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Prader-Willi-like syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
7
|
17
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
COLD-INDUCED SWEATING SYNDROME 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
20
|
0.600 |
None |
1.000 |
1 |
4
|
2016 |
2016 |
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
disease |
|
Disease or Syndrome
|
3
|
21
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Retinal Diseases
|
group |
Eye Diseases
|
Disease or Syndrome
|
714
|
56
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Microretrognathia
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Finding
|
53
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Nevus flammeus of the forehead
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|