DIAMOND-BLACKFAN ANEMIA 12
|
disease |
|
Disease or Syndrome
|
1
|
|
0.500 |
None |
1.000 |
2 |
|
2013 |
2018 |
Elevated red cell adenosine deaminase activity
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Normochromic anemia
|
phenotype |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
2013 |
2013 |
Reticulocytopenia
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Acute respiratory infections
|
group |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
35
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
|
|
|
Triphalangeal thumb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
56
|
15
|
0.400 |
moderate |
1.000 |
1 |
|
2013 |
2013 |
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
2
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
2013 |
2017 |
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 |
Delayed Puberty
|
phenotype |
Endocrine System Diseases
|
Pathologic Function
|
196
|
21
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Hereditary Diffuse Gastric Cancer
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
312
|
119
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
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
|
0.100 |
None |
|
0 |
|
|
|
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.100 |
None |
|
0 |
|
|
|