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
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.310
None
1.000
2
2002
2003
3-Methylglutaconic aciduria type 2
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
Disease or Syndrome
30
22
0.010
None
1.000
1
2010
2010
3C syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
4
6
0.010
None
1.000
1
1996
1996
Abnormal behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
910
121
0.070
None
0.857
7
2005
2017
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
0.100
None
0
Abnormal nasal morphology
disease
Anatomical Abnormality
34
0.100
None
0
Abnormality of aortic arch
disease
Finding
13
1
0.100
None
0
Abnormality of aortic valve
disease
Anatomical Abnormality
50
2
0.100
None
0
Abnormality of dental enamel
group
Anatomical Abnormality
96
4
0.100
None
0
Abnormality of immune system physiology
phenotype
Pathologic Function
42
1
0.100
None
0
Abnormality of metabolism/homeostasis
phenotype
Finding
171
5
0.100
None
0
Abnormality of pulmonary valve
disease
Finding
40
0.100
None
0
Abnormality of the middle ear
phenotype
Finding
5
0.100
None
0
Abnormality of the pharynx
disease
Anatomical Abnormality
23
0.100
None
0
Abnormality of the thorax
disease
Anatomical Abnormality
40
5
0.100
None
0
Abnormality of the thymus
disease
Anatomical Abnormality
5
0.100
None
0
Abnormality of the tonsils
disease
Anatomical Abnormality
12
1
0.100
None
0
×
CUI:
C0702166
Disease:
Acne
Acne
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
167
11
0.100
None
0
Acrocephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
35
0.100
None
0
Acute Undifferentiated Leukemia
disease
Neoplastic Process
119
1
0.020
None
1.000
2
2007
2011
Addictive Behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
332
56
0.010
None
1.000
1
2019
2019
Adenocarcinoma
group
Neoplasms
Neoplastic Process
2235
168
0.010
None
1.000
1
2013
2013
Adenoid Cystic Carcinoma
disease
Neoplasms
Neoplastic Process
325
30
0.020
None
1.000
2
2012
2014
Adenoma
group
Neoplasms
Neoplastic Process
1183
103
0.010
None
1.000
1
2017
2017