Leigh Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
144
|
114
|
0.300 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
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 |
definitive |
1.000 |
10 |
|
2006 |
2017 |
Ethylmalonic encephalopathy
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
26
|
33
|
1.000 |
None |
1.000 |
26 |
28
|
2004 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2015 |
Metabolic Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
945
|
50
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2002 |
2004 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
metabolic disturbance
|
disease |
|
Disease or Syndrome
|
29
|
4
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of colon and/or rectum
|
disease |
|
Neoplastic Process
|
3669
|
502
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Liver neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1424
|
7
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Pyramidal sign
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
155
|
10
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Ethylmalonic aciduria
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|