Diamond-Blackfan Anemia 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
strong |
1.000 |
3 |
4
|
2008 |
2013 |
Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
38
|
0.500 |
strong |
1.000 |
15 |
3
|
2008 |
2019 |
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.400 |
strong |
1.000 |
2 |
|
2008 |
2009 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
None |
|
0 |
|
|
|
Thumb deformity
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
8
|
7
|
0.300 |
strong |
1.000 |
2 |
|
2008 |
2009 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
2008 |
2008 |
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
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 |
|
|
|
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Scoliosis, unspecified
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
850
|
135
|
0.100 |
None |
|
0 |
|
|
|
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.100 |
None |
|
0 |
|
|
|
Migraine Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
512
|
264
|
0.100 |
None |
|
0 |
|
|
|
Sprengel deformity
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
29
|
4
|
0.100 |
None |
|
0 |
|
|
|
Triphalangeal thumb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
56
|
15
|
0.100 |
None |
|
0 |
|
|
|
MCV - raised
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Ostium secundum atrial septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
37
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|