Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.730 |
moderate |
0.917 |
12 |
3
|
1992 |
2017 |
Mitochondrial Complex II Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
8
|
45
|
0.700 |
None |
1.000 |
28 |
39
|
2000 |
2017 |
PARAGANGLIOMAS 5
|
disease |
|
Disease or Syndrome
|
1
|
39
|
0.700 |
strong |
1.000 |
27 |
39
|
2000 |
2017 |
Gastrointestinal Stromal Tumors
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
538
|
154
|
0.700 |
strong |
1.000 |
22 |
1
|
2004 |
2019 |
CARDIOMYOPATHY, DILATED, 1GG
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
2 |
2
|
2010 |
2016 |
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
23
|
98
|
0.500 |
definitive |
1.000 |
8 |
|
2005 |
2013 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.400 |
None |
|
0 |
|
|
|
Cardiomyopathy, Familial Idiopathic
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
773
|
243
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2010 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2010 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
36
|
1
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
40
|
8
|
0.300 |
moderate |
1.000 |
8 |
|
1992 |
2015 |
Gastrointestinal Stromal Sarcoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
74
|
|
0.300 |
None |
1.000 |
4 |
|
2011 |
2013 |
Familial dilated cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
47
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Osteoarthrosis Deformans
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
96
|
1
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Encephalopathy, Subacute Necrotizing, Juvenile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
|
0 |
|
|
|
Encephalopathy, Subacute Necrotizing, Infantile
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
|
0 |
|
|
|
Carcinoma, Neuroendocrine
|
disease |
Neoplasms
|
Neoplastic Process
|
182
|
7
|
0.300 |
strong |
|
0 |
|
|
|
Paraganglioma
|
disease |
Neoplasms
|
Neoplastic Process
|
165
|
36
|
0.200 |
None |
0.955 |
22 |
2
|
2005 |
2019 |
Adrenal Gland Pheochromocytoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
416
|
50
|
0.200 |
None |
1.000 |
13 |
1
|
2005 |
2018 |
Peritoneal adhesion
|
disease |
Digestive System Diseases; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
32
|
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |