MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.700 |
None |
1.000 |
7 |
12
|
1997 |
2016 |
PORTAL HYPERTENSION, NONCIRRHOTIC
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
None |
1.000 |
3 |
2
|
2005 |
2016 |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.700 |
strong |
1.000 |
1 |
7
|
2012 |
2012 |
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.530 |
None |
1.000 |
5 |
|
2005 |
2018 |
Portal Hypertension
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
167
|
9
|
0.430 |
None |
1.000 |
3 |
|
2016 |
2019 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
2 |
2
|
2002 |
2015 |
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.310 |
strong |
1.000 |
2 |
|
2007 |
2014 |
Cruveilhier-Baumgarten Syndrome
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Liver Failure
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
293
|
20
|
0.170 |
None |
1.000 |
7 |
|
2002 |
2018 |
Icterus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
241
|
17
|
0.110 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Encephalopathies
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
457
|
64
|
0.110 |
None |
1.000 |
1 |
|
2002 |
2002 |
Chronic progressive external ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
50
|
13
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.100 |
None |
1.000 |
16 |
|
2002 |
2017 |
Peripheral axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
94
|
12
|
0.100 |
None |
|
0 |
|
|
|
Dementia
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
816
|
176
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Micronodular cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Hypoalbuminemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
107
|
9
|
0.100 |
None |
|
0 |
|
|
|
Cerebral atrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
454
|
44
|
0.100 |
None |
|
0 |
|
|
|
Myalgia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
226
|
22
|
0.100 |
None |
|
0 |
|
|
|