IMMUNODEFICIENCY 47
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
strong |
1.000 |
2 |
5
|
2016 |
2018 |
Lymphoma, Follicular, Grade 2
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Follicular, Grade 3
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Follicular, Grade 1
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
22
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Small Cleaved-Cell, Follicular
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
21
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Mixed-Cell, Follicular
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Large-Cell, Follicular
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
153
|
6
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Lymphoma, Follicular
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
477
|
83
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Cutis Laxa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
70
|
21
|
0.110 |
None |
1.000 |
2 |
1
|
2008 |
2018 |
Decreased serum ceruloplasmin
|
phenotype |
|
Finding
|
12
|
5
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Abnormality of copper homeostasis
|
phenotype |
|
Finding
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Exocrine pancreatic insufficiency
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
82
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Prolonged neonatal jaundice
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Finding
|
59
|
14
|
0.100 |
None |
|
0 |
|
|
|
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Fatty Liver
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
875
|
35
|
0.100 |
None |
|
0 |
|
|
|
Steatohepatitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1143
|
75
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|