Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Short telomere length
|
phenotype |
|
Anatomical Abnormality
|
12
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Abnormal number of granulocyte precursors
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of refraction
|
disease |
|
Anatomical Abnormality
|
28
|
31
|
0.100 |
None |
|
0 |
|
|
|
Somatic mutation
|
phenotype |
|
Cell or Molecular Dysfunction
|
151
|
|
0.100 |
None |
|
0 |
|
|
|
Hyposegmentation of neutrophil nuclei
|
phenotype |
|
Cell or Molecular Dysfunction
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.050 |
None |
1.000 |
5 |
|
2013 |
2019 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.150 |
None |
1.000 |
5 |
|
2011 |
2014 |
Monosomy
|
group |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
214
|
11
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Congenital lamellar cataract
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
18
|
6
|
0.100 |
None |
|
0 |
|
|
|
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.100 |
None |
0.957 |
23 |
|
2017 |
2020 |
Refractory anemias
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
340
|
11
|
0.060 |
None |
1.000 |
6 |
|
2012 |
2019 |
Miller Dieker syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
182
|
9
|
0.060 |
None |
1.000 |
6 |
1
|
2015 |
2019 |
Thrombocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
93
|
12
|
0.160 |
None |
1.000 |
6 |
|
2013 |
2019 |
Refractory anemia, without ringed sideroblasts, without excess blasts
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
38
|
2
|
0.060 |
None |
1.000 |
6 |
|
2012 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.040 |
None |
1.000 |
4 |
1
|
2015 |
2019 |
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
disease |
|
Disease or Syndrome
|
33
|
59
|
0.030 |
None |
0.667 |
3 |
|
2012 |
2019 |
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.020 |
None |
1.000 |
2 |
1
|
2014 |
2016 |
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Thrombocythemia, Essential
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
220
|
37
|
0.020 |
None |
0.500 |
2 |
|
2016 |
2019 |
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
Iron Overload
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
241
|
53
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Trisomy 12
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
76
|
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
247
|
76
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Multiple Chronic Conditions
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
929
|
42
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2020 |