IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
1 |
4
|
2015 |
2015 |
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.400 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Immunodeficiency syndrome, variable
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Disease or Syndrome
|
3
|
1
|
0.310 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Abnormality of the intestine
|
phenotype |
|
Finding
|
19
|
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Intestinal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
209
|
13
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Hypogammaglobulinemia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
76
|
2
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Prostate cancer, familial
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
116
|
25
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
PROSTATE CANCER, HEREDITARY, 1
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
62
|
2
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption
|
phenotype |
Digestive System Diseases
|
Finding
|
175
|
3
|
0.100 |
None |
|
0 |
|
|
|
Protrusion of tongue
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Recurrent infections
|
phenotype |
Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases
|
Finding
|
127
|
14
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of chromosome stability
|
phenotype |
|
Cell or Molecular Dysfunction
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased antibody level in blood
|
phenotype |
|
Finding
|
75
|
5
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic ischia
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|