Increased susceptibility to malignancy
|
phenotype |
Neoplasms
|
Finding
|
1
|
|
0.300 |
moderate |
1.000 |
1 |
|
2014 |
2014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
20
|
0.860 |
strong |
1.000 |
28 |
20
|
2003 |
2019 |
UNC13D Deficiency
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
GRISCELLI SYNDROME, TYPE 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
4
|
11
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Reduced natural killer cell activity
|
phenotype |
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Dianzani autoimmune lymphoproliferative syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
25
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Unexplained fevers
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
2
|
|
|
Cystinosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
32
|
27
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Familial Hemophagocytic Lymphocytosis
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
35
|
6
|
0.400 |
None |
1.000 |
40 |
1
|
2001 |
2019 |
Histiocytosis haematophagic
|
disease |
|
Disease or Syndrome
|
36
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Neutrophil extracellular trap formation
|
disease |
|
Disease or Syndrome
|
55
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Agranulocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
55
|
8
|
0.100 |
None |
|
0 |
|
|
|
Fibrinogen Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
56
|
4
|
0.100 |
None |
|
0 |
|
|
|
Macrophage Activation Syndrome
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
57
|
6
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2018 |
Hypofibrinogenemia
|
disease |
|
Disease or Syndrome
|
60
|
14
|
0.100 |
None |
|
0 |
|
|
|
Autoimmune Lymphoproliferative Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
65
|
22
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2018 |
Systemic onset juvenile chronic arthritis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome
|
90
|
53
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2018 |
Hydrops Fetalis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
14
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Primary immune deficiency disorder
|
group |
Immune System Diseases
|
Disease or Syndrome
|
93
|
23
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Lymphohistiocytosis, Hemophagocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
117
|
13
|
0.100 |
None |
1.000 |
23 |
|
2003 |
2019 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Hepatosplenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
|
Sign or Symptom
|
127
|
21
|
0.100 |
None |
|
0 |
|
|
|
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Leishmaniasis, Visceral
|
disease |
Infections
|
Disease or Syndrome
|
197
|
22
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |