DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
moderate |
1.000 |
1 |
1
|
2014 |
2014 |
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 |
2 |
|
2014 |
2017 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.400 |
moderate |
|
0 |
|
|
|
Weight Gain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
124
|
12
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
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 |
|
2014 |
2014 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
None |
|
0 |
|
|
|
Agranulocytosis
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
55
|
8
|
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 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
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 |
|
|
|
Midface retrusion
|
phenotype |
|
Finding
|
228
|
|
0.100 |
None |
|
0 |
|
|
|
Broad neck
|
phenotype |
|
Finding
|
22
|
10
|
0.100 |
None |
|
0 |
|
|
|
Short nose
|
phenotype |
|
Finding
|
265
|
23
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
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 |
|
|
|
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|
Sparse and thin eyebrow
|
phenotype |
|
Finding
|
68
|
8
|
0.100 |
None |
|
0 |
|
|
|
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cardiac Arrhythmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
559
|
111
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Fatigue
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
760
|
67
|
0.100 |
None |
|
0 |
|
|
|