Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
18 |
2
|
1988 |
2015 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
18 |
2
|
1988 |
2015 |
Muscle Weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
536
|
87
|
0.070 |
None |
1.000 |
7 |
|
2005 |
2018 |
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 |
Glycogen storage disease due to acid maltase deficiency, late-onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.060 |
None |
1.000 |
6 |
|
2010 |
2018 |
Paresis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
216
|
49
|
0.060 |
None |
1.000 |
6 |
|
2005 |
2018 |
Glycogen Storage Disease Type II, Infantile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
4
|
0.610 |
None |
1.000 |
6 |
4
|
2001 |
2011 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.150 |
None |
0.800 |
5 |
1
|
1986 |
2004 |
Adult Glycogen Storage Disease Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
5 |
|
2001 |
2011 |
Glycogen Storage Disease Type II, Juvenile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
5 |
|
2001 |
2011 |
Blood spots
|
disease |
|
Disease or Syndrome
|
117
|
|
0.040 |
None |
1.000 |
4 |
|
2011 |
2015 |
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 |
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 |
Glycogen storage disease due to acid maltase deficiency, infantile onset
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
6
|
0.330 |
None |
1.000 |
3 |
4
|
2014 |
2019 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2019 |
Neuromuscular Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
171
|
50
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2016 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.020 |
None |
1.000 |
2 |
|
1986 |
1999 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.400 |
None |
1.000 |
2 |
2
|
2001 |
2015 |
Metabolic myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.300 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Muscle degeneration
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
70
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Heymann Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Anaplastic thyroid carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
392
|
16
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Ventricular Dysfunction
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |