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 |
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 |
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 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.460 |
limited |
1.000 |
35 |
3
|
1986 |
2018 |
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.400 |
None |
1.000 |
2 |
2
|
2001 |
2015 |
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.360 |
limited |
0.857 |
7 |
2
|
1994 |
2018 |
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 |
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 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 |
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 |
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 |
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 |
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 |
Ventricular Dysfunction
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
11
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hypertrophic obstructive cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
233
|
90
|
0.300 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Pompe's disease adult onset
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.150 |
None |
0.800 |
5 |
1
|
1986 |
2004 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
18 |
2
|
1988 |
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 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
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 |