Hemophilia B
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
125
|
0.090 |
None |
1.000 |
9 |
|
2002 |
2017 |
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.060 |
None |
0.833 |
6 |
|
1993 |
2017 |
Hemophilia A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
143
|
295
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2019 |
Muscular Dystrophy, Duchenne
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
375
|
170
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2018 |
Heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1499
|
201
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Congestive heart failure
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
1760
|
165
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Hemophilia, NOS
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
82
|
8
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2019 |
Granulomatous Disease, Chronic, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
75
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2015 |
Glycogen storage disease type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
194
|
269
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
0.500 |
2 |
|
2013 |
2017 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Sandhoff Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
48
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2016 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2007 |
Generalized glycogen storage disease of infants
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
51
|
16
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
nervous system disorder
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
977
|
39
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2014 |
Arrhythmogenic Right Ventricular Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome; Congenital Abnormality
|
82
|
136
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Childhood Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2527
|
98
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Primary hyperoxaluria, type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
169
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Ornithine carbamoyltransferase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
142
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stargardt's disease
|
phenotype |
|
Disease or Syndrome
|
45
|
24
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Impaired glucose tolerance
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
596
|
81
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |