Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
15
|
0.700 |
strong |
1.000 |
12 |
15
|
1990 |
2016 |
Deficiency or absence of cytochrome b(-245)
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Absence of bactericidal oxidative respiratory burst in phagocytes
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Burkholderia cepacia infections
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Serratia marcescens infections
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased activity of NADPH oxidase
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Klebsiella infections
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Aspergillus infections
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Macroalbuminuric diabetic nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Autosomal Recessive Chronic Granulomatous Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
|
0.330 |
None |
1.000 |
3 |
|
1990 |
2009 |
Rectal abscess
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections
|
Pathologic Function
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Familial eosinophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Recurrent Staphylococcus aureus infections
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial skin infections
|
phenotype |
|
Finding
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Granulomatosis
|
disease |
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Infarction
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Peroxisome Biogenesis Disorder, Complementation Group D
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
16
|
4
|
0.010 |
None |
1.000 |
1 |
3
|
2017 |
2017 |
Mediastinal lymphadenopathy
|
disease |
Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Liver Abscess
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
22
|
1
|
0.100 |
None |
|
0 |
|
|
|
Venous retinal branch occlusion
|
disease |
Eye Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
25
|
7
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Coronary Artery Vasospasm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
9
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Peripheral arterial occlusive disease
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
35
|
3
|
0.010 |
None |
< 0.001 |
1 |
|
2000 |
2000 |
Cellulitis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases
|
Pathologic Function
|
38
|
1
|
0.100 |
None |
|
0 |
|
|
|
Escherichia coli Infections
|
group |
Infections
|
Disease or Syndrome
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Chronic glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
41
|
7
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |