Schizophrenia
disease
Mental Disorders
Mental or Behavioral Dysfunction
2872
2897
0.430
None
1.000
3
2001
2013
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
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 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
Craniofacial Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
234
4
0.300
None
1.000
1
1999
1999
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
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.300
None
0
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
Asymmetric crying face association
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
25
2
0.300
None
0
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
Multiple renal cysts
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
46
4
0.100
None
0
Short neck
phenotype
Finding
288
29
0.100
None
0
Telecanthus
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Finding
134
14
0.100
None
0
Downward slant of palpebral fissure
phenotype
Finding
391
49
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
Nasal voice
phenotype
Finding
93
3
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Congenital hypoplasia of thymus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
34
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Corneal Neovascularization
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases
Disease or Syndrome
117
0.100
None
0
Upward slant of palpebral fissure
phenotype
Finding
216
16
0.100
None
0
Acrocephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
35
0.100
None
0
Cataract
disease
Eye Diseases
Acquired Abnormality
878
124
0.100
None
0