De Vaal's syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Reticular dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
2
|
9
|
0.750 |
None |
1.000 |
6 |
9
|
2009 |
2019 |
Aplasia/Hypoplasia of the thymus
|
disease |
|
Anatomical Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Lack of T cell function
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
11
|
|
0.300 |
moderate |
|
0 |
|
|
|
Impaired T cell function
|
phenotype |
|
Cell or Molecular Dysfunction
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Hearing Loss, Extreme
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Complete Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Deafness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bilateral Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Deaf Mutism
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Abnormality of mitochondrial metabolism
|
phenotype |
|
Finding
|
21
|
3
|
0.100 |
None |
|
0 |
|
|
|
Prelingual Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
22
|
2
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bare Lymphocyte Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
24
|
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2009 |
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of thymus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Omenn Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
35
|
48
|
0.300 |
None |
1.000 |
2 |
|
2009 |
2009 |
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
53
|
69
|
0.300 |
moderate |
|
0 |
|
|
|
Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
62
|
37
|
0.310 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Combined immunodeficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases
|
Disease or Syndrome
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Actinic keratosis
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
136
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|