Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Electrocardiogram: P-R interval
|
phenotype |
|
Finding
|
57
|
138
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Neutrophilic dermatosis
|
disease |
|
Disease or Syndrome
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Recurrent fevers
|
phenotype |
|
Sign or Symptom
|
48
|
4
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
60
|
4
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Increased susceptibility to fractures
|
phenotype |
|
Finding
|
42
|
5
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 3.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Malabsorption, CTCAE
|
phenotype |
|
Finding
|
175
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of bone marrow cell morphology
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 5.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Familial Mediterranean Fever
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
133
|
82
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Avellino corneal dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
115
|
14
|
0.300 |
strong |
1.000 |
2 |
|
2005 |
2013 |
Congenital dyserythropoietic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
13
|
0.310 |
strong |
1.000 |
2 |
|
2005 |
2013 |
Congenital hypoplastic anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Majeed syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
6
|
0.770 |
strong |
1.000 |
10 |
6
|
2005 |
2019 |
Familial generalized lipodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
49
|
15
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Triglyceride storage disease with ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
8
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hereditary Autoinflammatory Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
16
|
1
|
0.300 |
strong |
1.000 |
1 |
|
2007 |
2007 |