DiGeorge Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
111
|
7
|
1.000 |
None |
0.988 |
80 |
2
|
1995 |
2019 |
Shprintzen-Goldberg syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
61
|
21
|
0.100 |
None |
0.981 |
52 |
|
1995 |
2019 |
Shprintzen syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
46
|
3
|
1.000 |
None |
0.960 |
50 |
2
|
1996 |
2019 |
Chordoma
|
disease |
Neoplasms
|
Neoplastic Process
|
140
|
3
|
0.100 |
None |
0.971 |
34 |
|
2006 |
2020 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.500 |
None |
1.000 |
14 |
1
|
1997 |
2017 |
Transposition of Great Vessels
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
61
|
18
|
0.200 |
None |
1.000 |
13 |
|
1991 |
2018 |
Tetralogy of Fallot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
274
|
83
|
0.790 |
limited |
0.800 |
10 |
1
|
1995 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
10 |
1
|
1992 |
2016 |
22q11 Deletion Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
31
|
2
|
0.390 |
None |
1.000 |
10 |
|
1997 |
2012 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.470 |
moderate |
1.000 |
7 |
|
2001 |
2018 |
Conotruncal defect
|
disease |
|
Congenital Abnormality
|
51
|
45
|
0.070 |
None |
0.714 |
7 |
|
1996 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.060 |
None |
1.000 |
6 |
|
2012 |
2019 |
Cat eye syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
32
|
6
|
0.060 |
None |
1.000 |
6 |
|
2000 |
2019 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.060 |
None |
1.000 |
6 |
|
2012 |
2019 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.060 |
None |
1.000 |
6 |
|
2001 |
2018 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.060 |
None |
1.000 |
6 |
|
2001 |
2018 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
disease |
|
Disease or Syndrome
|
34
|
3
|
0.060 |
None |
1.000 |
6 |
|
1993 |
2010 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.050 |
None |
1.000 |
5 |
|
2012 |
2017 |
Coronary heart disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1576
|
1178
|
0.040 |
None |
1.000 |
4 |
1
|
2012 |
2018 |
Truncus Arteriosus, Persistent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
76
|
4
|
0.140 |
None |
1.000 |
4 |
|
2011 |
2020 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2017 |
CONOTRUNCAL ANOMALY FACE SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
|
0.510 |
None |
1.000 |
4 |
|
2003 |
2006 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2017 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2016 |
Double Outlet Right Ventricle
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
48
|
16
|
0.130 |
None |
1.000 |
3 |
1
|
2013 |
2017 |