IMMUNODEFICIENCY 23
|
disease |
|
Disease or Syndrome
|
2
|
12
|
0.700 |
None |
1.000 |
4 |
12
|
2014 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.400 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.300 |
strong |
1.000 |
1 |
|
2014 |
2014 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2016 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2018 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Decreased proportion of CD4-positive T cells
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent viral infection
|
phenotype |
Infections
|
Finding
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Chronic otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
6
|
0.100 |
None |
|
0 |
|
|
|
Vasculitis of the skin
|
disease |
Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
21
|
1
|
0.100 |
None |
|
0 |
|
|
|
Sepsis
|
disease |
Pathological Conditions, Signs and Symptoms; Infections
|
Disease or Syndrome
|
1453
|
144
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive patellar reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
|
|
|
Recurrent fungal infections
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Decreased/absent ankle reflexes
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent skin infections
|
phenotype |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
95
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal CD4:CD8 ratio
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced antigen-specific T cell proliferation
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased proportion of CD3-positive T cells
|
phenotype |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|