Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Recurrent respiratory infections
|
phenotype |
Infections; Respiratory Tract Diseases
|
Finding
|
318
|
7
|
0.100 |
None |
|
0 |
|
|
|
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.100 |
None |
|
0 |
|
|
|
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
18 |
2
|
1988 |
2015 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.300 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2018 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Membranous glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
197
|
33
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
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
|
1.000 |
definitive |
0.994 |
319 |
201
|
1965 |
2019 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2016 |
Pediatric failure to thrive
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
|
Disease or Syndrome
|
166
|
122
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Degenerative disorder
|
group |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
160
|
6
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Lysosomal Storage Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
8
|
0.060 |
None |
0.833 |
6 |
|
1995 |
2019 |
Mitochondrial Myopathies
|
group |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
121
|
19
|
0.010 |
None |
1.000 |
1 |
|
1986 |
1986 |
FRIEDREICH ATAXIA 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
119
|
24
|
0.030 |
None |
1.000 |
3 |
|
2013 |
2016 |
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2015 |
Macroglossia
|
disease |
Stomatognathic Diseases
|
Disease or Syndrome
|
115
|
2
|
0.100 |
None |
|
0 |
|
|
|
Proximal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
112
|
11
|
0.100 |
None |
|
0 |
|
|
|
Fabry Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
108
|
206
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2017 |
Friedreich Ataxia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
88
|
11
|
0.010 |
None |
1.000 |
1 |
2
|
2014 |
2014 |
Becker Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
34
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |