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 |
0.941 |
34 |
1
|
2005 |
2019 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.400 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.310 |
moderate |
1.000 |
2 |
|
2015 |
2017 |
Acute monocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
633
|
22
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Malignant Head and Neck Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
767
|
118
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
limited |
1.000 |
1 |
|
2018 |
2018 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.300 |
moderate |
1.000 |
1 |
|
2017 |
2017 |
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
|
0.200 |
None |
0.962 |
26 |
1
|
2005 |
2019 |
ovarian neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Neoplastic Process
|
2542
|
757
|
0.120 |
None |
1.000 |
2 |
5
|
2017 |
2018 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Non-obstructive azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
168
|
88
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
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 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sloping forehead
|
phenotype |
|
Finding
|
149
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
|
|
|
Hyperreflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
539
|
19
|
0.100 |
None |
|
0 |
|
|
|