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
0.330
None
0.667
3
1997
2001
Schizophrenia
disease
Mental Disorders
Mental or Behavioral Dysfunction
2872
2897
0.430
None
1.000
3
2001
2013
Tetralogy of Fallot
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
274
83
0.120
None
1.000
2
2001
2001
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
0.320
None
1.000
2
1999
2001
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
0.020
None
1.000
2
1997
1999
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
0.320
None
0.500
2
1998
2001
Congenital Heart Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
406
58
0.300
None
1.000
1
1999
1999
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
644
23
0.010
None
1.000
1
2018
2018
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.010
None
1.000
1
2013
2013
Cognition Disorders
group
Mental Disorders
Mental or Behavioral Dysfunction
607
47
0.010
None
1.000
1
2013
2013
Carcinoma
group
Neoplasms
Neoplastic Process
2462
103
0.010
None
1.000
1
2005
2005
Testicular regression syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
37
3
0.010
None
1.000
1
2018
2018
Craniofacial Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
234
4
0.300
None
1.000
1
1999
1999
Malignant tumor of colon
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
2969
688
0.010
None
1.000
1
2011
2011
Subependymal Glioma
disease
Neoplasms
Neoplastic Process
13
0.010
None
1.000
1
2007
2007
Myxopapillary ependymoma
disease
Neoplasms
Neoplastic Process
12
0.010
None
1.000
1
2007
2007
leukemia
disease
Neoplasms
Neoplastic Process
2111
144
0.010
None
1.000
1
2018
2018
Childhood Leukemia
disease
Neoplasms
Neoplastic Process
1740
140
0.010
None
1.000
1
2018
2018
Colon Carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
2832
275
0.010
None
1.000
1
2011
2011
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
0.300
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Short neck
phenotype
Finding
288
29
0.100
None
0
Posterior embryotoxon
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
44
0.100
None
0
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Congenital hypoplasia of thymus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
34
0.100
None
0