Hyper-Immunoglobulin E Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
|
0.700 |
strong |
1.000 |
21 |
|
2009 |
2019 |
HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
strong |
1.000 |
3 |
9
|
2004 |
2016 |
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
|
0.550 |
strong |
0.833 |
6 |
|
2015 |
2019 |
Job Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
35
|
12
|
0.400 |
None |
0.944 |
18 |
|
2009 |
2019 |
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.400 |
strong |
1.000 |
15 |
|
2009 |
2019 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.400 |
strong |
|
0 |
|
|
|
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2018 |
Developmental Disabilities
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
355
|
19
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mental deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
148
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Profound Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
160
|
3
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Mental Retardation, Psychosocial
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
142
|
2
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2509
|
386
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Child Development Disorders, Specific
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
30
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Child Development Deviations
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Lymphoma
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1548
|
91
|
0.300 |
strong |
|
0 |
|
|
|
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
limited |
|
0 |
|
|
|
Diabetes Mellitus, Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1675
|
954
|
0.210 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.150 |
None |
0.800 |
5 |
|
2009 |
2019 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.150 |
None |
0.800 |
5 |
|
2016 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
DOCK8 Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
1.000 |
11 |
|
2010 |
2019 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
2 |
2
|
2016 |
2019 |
Platelet mean volume determination (procedure)
|
phenotype |
|
Laboratory Procedure
|
223
|
371
|
0.100 |
None |
1.000 |
2 |
6
|
2011 |
2016 |
Granulocyte count
|
phenotype |
|
Laboratory Procedure
|
100
|
150
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |