Job Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
35
|
12
|
0.050 |
None |
0.800 |
5 |
|
2014 |
2018 |
Congenital Disorders of Glycosylation
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
102
|
38
|
0.050 |
None |
1.000 |
5 |
|
2014 |
2020 |
IMMUNODEFICIENCY 23
|
disease |
|
Disease or Syndrome
|
2
|
12
|
0.700 |
None |
1.000 |
4 |
12
|
2014 |
2015 |
Skeletal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
186
|
65
|
0.030 |
None |
0.667 |
3 |
1
|
2014 |
2018 |
Osteochondrodysplasias
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
207
|
26
|
0.030 |
None |
0.667 |
3 |
1
|
2014 |
2018 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.020 |
None |
1.000 |
2 |
|
1975 |
1996 |
Immunologic Deficiency Syndromes
|
group |
Immune System Diseases
|
Disease or Syndrome
|
973
|
31
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2018 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.120 |
None |
1.000 |
2 |
|
2014 |
2016 |
Desbuquois syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Multifocal motor neuropathy
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
B-CELL MALIGNANCY, LOW-GRADE
|
disease |
|
Neoplastic Process
|
350
|
19
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.010 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
14
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Subacute Sclerosing Panencephalitis
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
47
|
6
|
0.010 |
None |
1.000 |
1 |
|
1984 |
1984 |
Primary immune deficiency disorder
|
group |
Immune System Diseases
|
Disease or Syndrome
|
93
|
23
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
C4 Deficiency
|
disease |
|
Disease or Syndrome
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
1977 |
1977 |
Chronic Lymphocytic Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1447
|
291
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hyperactive behavior
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Mental or Behavioral Dysfunction
|
1263
|
112
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dermatitis, Atopic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases
|
Disease or Syndrome
|
751
|
232
|
0.110 |
None |
1.000 |
1 |
|
2016 |
2016 |
Recurrent pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Finding
|
62
|
11
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|