Sudden death
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
30
|
3
|
0.100 |
None |
|
0 |
|
|
|
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.130 |
None |
1.000 |
4 |
3
|
2012 |
2017 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.130 |
None |
1.000 |
3 |
2
|
2012 |
2016 |
Anaplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
538
|
7
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
liposarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
200
|
6
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Secondary malignant neoplasm of bone
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
647
|
18
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Tooth Crowding
|
phenotype |
Stomatognathic Diseases
|
Finding
|
82
|
19
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Large nose
|
phenotype |
|
Finding
|
70
|
7
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|
Short philtrum
|
phenotype |
|
Finding
|
182
|
25
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Joint hyperflexibility
|
phenotype |
|
Finding
|
181
|
12
|
0.100 |
None |
|
0 |
|
|
|
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
phenotype |
|
Finding
|
20
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
2
|
8
|
0.700 |
None |
1.000 |
2 |
6
|
2010 |
2017 |
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.030 |
None |
1.000 |
3 |
1
|
2004 |
2005 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.020 |
None |
1.000 |
2 |
1
|
2010 |
2017 |
Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
16
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2006 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.020 |
None |
1.000 |
2 |
1
|
2017 |
2018 |
Acute pancreatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
435
|
51
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |