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
0.010
None
1.000
1
2012
2012
Abnormal renal morphology
disease
Congenital Abnormality
35
3
0.010
None
1.000
1
2016
2016
Acute Chest Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
Disease or Syndrome
405
135
0.010
None
1.000
1
2016
2016
Acute Coronary Syndrome
disease
Cardiovascular Diseases
Disease or Syndrome
440
139
0.010
None
1.000
1
2016
2016
Aggressive behavior
phenotype
Behavior and Behavior Mechanisms
Individual Behavior
176
22
0.100
None
0
Behavior Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
77
4
0.300
None
1.000
1
2008
2008
Bilateral Wilms Tumor
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
31
0.300
None
1.000
1
2017
2017
Bladder Neoplasm
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2130
281
0.010
None
1.000
1
2019
2019
Blepharophimosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
106
15
0.100
None
0
Bone Diseases
group
Musculoskeletal Diseases
Disease or Syndrome
317
10
0.010
None
1.000
1
2017
2017
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.020
None
1.000
2
1
2013
2016
Bulbous nose
phenotype
Finding
123
13
0.100
None
0
×
CUI:
C1968949
Disease:
Cakut
Cakut
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
72
8
0.010
None
1.000
1
2016
2016
Carcinogenesis
phenotype
Pathological Conditions, Signs and Symptoms; Neoplasms
Neoplastic Process
6243
355
0.010
None
1.000
1
2016
2016
Carcinoma of bladder
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
2104
309
0.010
None
1.000
1
2019
2019
Carcinoma, Ovarian Epithelial
disease
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
Neoplastic Process
2841
327
0.020
None
1.000
2
2015
2019
Carcinoma, Transitional Cell
disease
Neoplasms
Neoplastic Process
623
12
0.010
None
1.000
1
2012
2012
Cardiomyopathy, Familial Idiopathic
disease
Cardiovascular Diseases
Disease or Syndrome
773
243
0.010
None
1.000
1
2016
2016
Childhood Kidney Wilms Tumor
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Neoplastic Process
338
36
0.020
None
1.000
2
2019
2019
Congenital ear anomaly NOS (disorder)
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
Congenital Abnormality
137
5
0.100
None
0
Congenital Heart Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
406
58
0.020
None
1.000
2
2003
2019
Congenital heart disease
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
267
80
0.010
None
1.000
1
2019
2019
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
0.310
None
1.000
1
2003
2003
Coronary heart disease
disease
Cardiovascular Diseases
Disease or Syndrome
1576
1178
0.010
None
1.000
1
2019
2019
Degenerative polyarthritis
disease
Musculoskeletal Diseases
Disease or Syndrome
1827
247
0.010
None
1.000
1
2019
2019