BONE MARROW FAILURE SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.600 |
strong |
1.000 |
2 |
6
|
2016 |
2018 |
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Pancytopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
253
|
15
|
0.420 |
strong |
1.000 |
2 |
1
|
2016 |
2018 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormality of the tongue
|
phenotype |
|
Finding
|
25
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital pectus excavatum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
272
|
36
|
0.100 |
None |
|
0 |
1
|
|
|
Neck webbing
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
78
|
19
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
1
|
|
|
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
49
|
13
|
0.520 |
None |
1.000 |
3 |
|
2017 |
2019 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.400 |
strong |
1.000 |
2 |
|
2016 |
2018 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hypopigmentation-immunodeficiency disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
14
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Proximal femoral metaphyseal irregularity
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior rib cupping
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Myocardial necrosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cupped ears (finding)
|
phenotype |
|
Congenital Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal widening
|
phenotype |
|
Finding
|
43
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|