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 |
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
|
0.600 |
limited |
0.982 |
110 |
12
|
1976 |
2019 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
18 |
2
|
1988 |
2015 |
Glycogen Storage Disease IIIC
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
1
|
0.300 |
definitive |
1.000 |
16 |
|
1965 |
2011 |
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 |
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 |
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 |
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 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 |
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 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.400 |
None |
1.000 |
2 |
2
|
2001 |
2015 |
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 |
Aortic Aneurysm
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
278
|
19
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Ataxia Telangiectasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
384
|
698
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Foramen Ovale, Patent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
73
|
14
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
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 |
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 IV
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
21
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Pneumonia
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
1032
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Idiopathic Membranous Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
|
Disease or Syndrome
|
79
|
13
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
Left Ventricular Hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
403
|
67
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Aortic Aneurysm, Abdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
586
|
90
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |