Diamond-Blackfan Anemia 10
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
8
|
0.710 |
strong |
1.000 |
6 |
8
|
2010 |
2019 |
Reticulocytopenia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
2010 |
2010 |
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the urinary system
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
38
|
0.360 |
strong |
0.889 |
9 |
|
2010 |
2019 |
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pallor
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
4
|
0.100 |
None |
|
0 |
|
|
|
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
0.100 |
None |
|
0 |
|
|
|
Disease Exacerbation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
166
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Severe myopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
184
|
116
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Age at menarche
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
267
|
591
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Migraine Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
512
|
264
|
0.100 |
None |
|
0 |
|
|
|
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.100 |
None |
|
0 |
|
|
|
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
strong |
1.000 |
2 |
1
|
2010 |
2017 |
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.100 |
None |
|
0 |
|
|
|