MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
|
disease |
|
Disease or Syndrome
|
1
|
12
|
0.700 |
None |
1.000 |
7 |
12
|
1997 |
2016 |
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
2 |
2
|
2002 |
2015 |
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 |
Depletion of mitochondrial DNA in liver
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Viral infection-induced rhabdomyolysis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
PORTAL HYPERTENSION, NONCIRRHOTIC
|
disease |
|
Disease or Syndrome
|
2
|
2
|
0.700 |
None |
1.000 |
3 |
2
|
2005 |
2016 |
Cystathioninuria
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
4
|
0.010 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Deoxyguanosine Kinase Deficiency
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
4
|
1
|
0.530 |
None |
1.000 |
5 |
|
2005 |
2018 |
Mitochondrial hepatopathy
|
disease |
|
Disease or Syndrome
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Cruveilhier-Baumgarten Syndrome
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Periportal fibrosis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
|
|
|
Gamma-cystathionase deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
5
|
2
|
0.010 |
None |
1.000 |
1 |
1
|
2005 |
2005 |
Abnormal conjugate eye movement
|
phenotype |
|
Finding
|
7
|
5
|
0.100 |
None |
|
0 |
|
|
|
Limb-girdle muscle atrophy
|
disease |
|
Disease or Syndrome
|
8
|
1
|
0.100 |
None |
|
0 |
|
|
|
Adult onset sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
2
|
0.100 |
None |
|
0 |
|
|
|
Rotary Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
9
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Generalized aminoaciduria
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Asthenia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
16
|
3
|
0.100 |
None |
|
0 |
|
|
|
Pelvic girdle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
16
|
2
|
0.100 |
None |
|
0 |
|
|
|
Micronodular cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Sensory axonal neuropathy
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Decreased activity of mitochondrial respiratory chain
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Depletion of mitochondrial DNA
|
disease |
|
Disease or Syndrome
|
36
|
7
|
0.100 |
None |
1.000 |
16 |
|
2002 |
2017 |
Hepatocellular necrosis
|
phenotype |
|
Disease or Syndrome
|
41
|
|
0.100 |
None |
|
0 |
|
|
|