Recurrent upper and lower respiratory tract infections
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infection of the gastrointestinal tract
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
Impaired Ig class switch recombination
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
None |
|
0 |
|
|
|
Hyper-IgM Immunodeficiency Syndrome, Type 5
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
2
|
0.300 |
None |
|
0 |
|
|
|
Congenital dyserythropoietic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
13
|
0.020 |
None |
1.000 |
2 |
1
|
1982 |
1997 |
Microvillus inclusion disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
19
|
16
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Machado-Joseph Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
135
|
12
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Crohn Disease
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1382
|
1147
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.100 |
None |
1.000 |
44 |
|
1997 |
2019 |
Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
556
|
13
|
0.100 |
None |
1.000 |
15 |
|
1997 |
2017 |
Adult Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
475
|
7
|
0.100 |
None |
1.000 |
12 |
|
1997 |
2017 |
Childhood Burkitt Lymphoma
|
disease |
Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
477
|
7
|
0.100 |
None |
1.000 |
12 |
|
1997 |
2017 |
Multiple Myeloma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Neoplastic Process
|
1740
|
865
|
0.070 |
None |
1.000 |
7 |
|
1997 |
2019 |
Congenital dyserythropoietic anemia, type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
21
|
14
|
0.040 |
None |
1.000 |
4 |
|
1997 |
2004 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Hyper-IgM Immunodeficiency Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
33
|
22
|
0.100 |
None |
1.000 |
18 |
1
|
2000 |
2019 |
Hyperimmunoglobulin M syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
1
|
0.400 |
None |
1.000 |
10 |
|
2000 |
2018 |
Hyper-IgM Immunodeficiency Syndrome, Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
14
|
0.730 |
strong |
1.000 |
7 |
14
|
2000 |
2017 |
Thrombocytopenia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
592
|
110
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Shigella Infections
|
group |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
121
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |