Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormal B cell count
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenitis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
55
|
2
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent enteroviral infections
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Lymphadenopathy
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
277
|
5
|
0.100 |
None |
|
0 |
|
|
|
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
|
disease |
|
Finding
|
2
|
7
|
0.400 |
strong |
|
0 |
5
|
|
|
Severe B lymphocytopenia
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.100 |
None |
|
0 |
|
|
|
Hypoproteinemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
4
|
0.100 |
None |
|
0 |
|
|
|
Panhypogammaglobulinemia
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Mastoiditis
|
disease |
Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Meningitis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
191
|
13
|
0.100 |
None |
|
0 |
|
|
|
Pneumonia, Interstitial
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
66
|
9
|
0.100 |
None |
|
0 |
|
|
|
Thyroiditis
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
104
|
7
|
0.100 |
None |
|
0 |
|
|
|
Atypical lymphocyte
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Reticuloendotheliosis, familial, with eosinophilia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Pruritus
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
107
|
2
|
0.100 |
None |
|
0 |
|
|
|