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
0.360
None
1.000
6
1
2001
2011
22q11 partial monosomy syndrome
disease
Disease or Syndrome
12
0.300
None
0
Ablepharon
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
20
1
0.010
None
1.000
1
1
2019
2019
Abnormal behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
910
121
0.100
None
1.000
41
1
1983
2019
Abnormal involuntary movement
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Disease or Syndrome
22
10
0.010
None
1.000
1
2004
2004
Abnormal lung lobation
disease
Respiratory Tract Diseases
Congenital Abnormality
32
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 pulmonary valve
disease
Finding
40
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 tonsils
disease
Anatomical Abnormality
12
1
0.100
None
0
×
CUI:
C0234238
Disease:
Ache
Ache
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
50
0.300
None
1.000
1
2010
2010
×
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 onset pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
53
6
0.010
None
1.000
1
3
2014
2014
Acute postoperative pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
8
0.030
None
1.000
3
2013
2013
Addictive Behavior
phenotype
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
332
56
0.050
None
1.000
5
3
2004
2018
Adenocarcinoma
group
Neoplasms
Neoplastic Process
2235
168
0.010
None
1.000
1
1
2013
2013
Adolescent - emotional problem
disease
Mental or Behavioral Dysfunction
1
0.010
None
1.000
1
2018
2018
Adrenal Gland Pheochromocytoma
disease
Neoplasms; Endocrine System Diseases
Neoplastic Process
416
50
0.010
None
1.000
1
2012
2012
Adult Liver Carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
1377
72
0.010
None
1.000
1
2003
2003
Adult Lymphoma
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
1169
66
0.010
None
1.000
1
2005
2005
Adult Non-Hodgkin Lymphoma
disease
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
Neoplastic Process
370
39
0.010
None
1.000
1
2005
2005