Fanconi Anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
394
|
173
|
0.700 |
None |
1.000 |
28 |
11
|
2003 |
2020 |
FANCONI ANEMIA, COMPLEMENTATION GROUP L
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.610 |
None |
1.000 |
10 |
4
|
2003 |
2017 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.400 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.310 |
strong |
1.000 |
2 |
|
1999 |
2017 |
Acute monocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
633
|
22
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Malignant Head and Neck Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
767
|
118
|
0.300 |
strong |
|
0 |
|
|
|
Gonadal Dysgenesis, 46,XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
11
|
0.200 |
None |
|
0 |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
360
|
194
|
0.100 |
None |
1.000 |
19 |
1
|
2003 |
2020 |
AIDS, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Viral Load result
|
phenotype |
|
Finding
|
65
|
91
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
|
disease |
|
Finding
|
149
|
527
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
HIV-1, RESISTANCE TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
|
phenotype |
|
Finding
|
147
|
526
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Weight decreased
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
271
|
3
|
0.100 |
None |
|
0 |
|
|
|
Absent testes
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Pyridoxine-responsive sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|