Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
38
|
0.510 |
strong |
1.000 |
2 |
|
2012 |
2017 |
DIAMOND-BLACKFAN ANEMIA 11
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Aase Smith syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
16
|
5
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2667
|
277
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pancreatic carcinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
2689
|
322
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Virus Diseases
|
group |
Infections
|
Disease or Syndrome
|
1471
|
42
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Herpes Simplex Infections
|
group |
Infections; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
645
|
11
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cytomegalovirus Infections
|
group |
Infections
|
Disease or Syndrome
|
462
|
26
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hypoplasia or aplasia of radius, unilateral
|
phenotype |
|
Finding
|
1
|
|
0.300 |
moderate |
|
0 |
|
|
|
Absent thumb, bilateral
|
phenotype |
|
Finding
|
1
|
|
0.300 |
moderate |
|
0 |
|
|
|
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|
Thick lower lip vermilion
|
phenotype |
|
Finding
|
145
|
10
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal ridge
|
phenotype |
|
Finding
|
117
|
1
|
0.100 |
None |
|
0 |
|
|
|
Forearm reduction defects
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
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 |
|
|
|
Atresia of the external auditory canal
|
disease |
|
Anatomical Abnormality
|
44
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal eyelid morphology
|
disease |
|
Anatomical Abnormality
|
10
|
3
|
0.100 |
None |
|
0 |
|
|
|
ULNAR HYPOPLASIA
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
50
|
|
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 |
|
|
|