Glycogen Storage Disease Type V
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
22
|
76
|
1.000 |
None |
0.989 |
93 |
71
|
1983 |
2020 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.420 |
None |
1.000 |
3 |
|
2000 |
2018 |
Glycogen Storage Disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
63
|
16
|
0.330 |
limited |
1.000 |
3 |
|
2003 |
2011 |
Cardiomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
267
|
11
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Paralysed
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
68
|
|
0.200 |
None |
1.000 |
1 |
|
1996 |
1996 |
Myocardial Ischemia
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
756
|
103
|
0.200 |
None |
1.000 |
1 |
|
1999 |
1999 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
2001 |
2001 |
Multiple Endocrine Neoplasia Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
145
|
156
|
0.100 |
None |
1.000 |
13 |
|
1993 |
2001 |
Uric acid measurement (procedure)
|
phenotype |
|
Laboratory Procedure
|
264
|
1463
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2018 |
CUI: |
C0018099 |
Disease: |
Gout
|
Gout
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
205
|
2354
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2013 |
Arthritis, Gouty
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
206
|
2356
|
0.100 |
None |
1.000 |
2 |
2
|
2011 |
2013 |
Lymphocyte Count measurement
|
phenotype |
|
Laboratory Procedure
|
338
|
456
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Exercise-induced rhabdomyolysis
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Cardiovascular Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
99
|
12
|
0.100 |
None |
|
0 |
|
|
|
Myoglobinuria
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Urine looks dark
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Exercise-induced muscle cramps
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Exercise-induced myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
37
|
4
|
0.100 |
None |
|
0 |
|
|
|
MCARDLE DISEASE, MILD
|
disease |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.070 |
None |
1.000 |
7 |
|
1993 |
2016 |
Vitelliform Macular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
74
|
120
|
0.040 |
None |
1.000 |
4 |
|
1994 |
1995 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2018 |