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
0.400
None
1.000
12
1993
2010
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
0.340
None
1.000
5
1998
2018
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
3
2004
2016
Asymmetric crying face association
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
Disease or Syndrome
25
2
0.300
None
1.000
1
2004
2004
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
1.000
1
2004
2004
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.300
None
1.000
1
2004
2004
Tetralogy of Fallot
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
274
83
0.130
None
1.000
3
1999
2016
Impaired cognition
disease
Mental Disorders
Mental or Behavioral Dysfunction
1630
348
0.100
None
1.000
1
1
2015
2015
Global developmental delay
disease
Mental or Behavioral Dysfunction
1825
553
0.100
None
0
Chronic otitis media
disease
Otorhinolaryngologic Diseases
Disease or Syndrome
163
6
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Upward slant of palpebral fissure
phenotype
Finding
216
16
0.100
None
0
Downward slant of palpebral fissure
phenotype
Finding
391
49
0.100
None
0
Telecanthus
phenotype
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Finding
134
14
0.100
None
0
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
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
Nasal voice
phenotype
Finding
93
3
0.100
None
0
Posterior embryotoxon
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
44
0.100
None
0
Congenital hypoplasia of thymus
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
34
0.100
None
0
Uterine Anomalies
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Congenital Abnormality
35
1
0.100
None
0
Laryngomalacia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
Congenital Abnormality
67
18
0.100
None
0
Truncus Arteriosus, Persistent
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
76
4
0.100
None
0