MITOCHONDRIAL DNA DEPLETION SYNDROME 11
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.700 |
strong |
1.000 |
2 |
3
|
2013 |
2017 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.410 |
None |
1.000 |
2 |
|
2013 |
2018 |
Respiratory Insufficiency
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
315
|
15
|
0.400 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.330 |
None |
1.000 |
3 |
|
2013 |
2018 |
External Ophthalmoplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
41
|
6
|
0.320 |
None |
1.000 |
2 |
|
2013 |
2018 |
Mitochondrial Respiratory Chain Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
49
|
3
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Respiratory Depression
|
phenotype |
Respiratory Tract Diseases
|
Pathologic Function
|
24
|
5
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Internal Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ophthalmoplegia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
216
|
12
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ophthalmoparesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
61
|
4
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Electron Transport Chain Deficiencies, Mitochondrial
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Emaciation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Oxidative Phosphorylation Deficiencies
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
18
|
1
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
160
|
246
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Cerebellar atrophy
|
disease |
|
Disease or Syndrome
|
321
|
67
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Progressive cerebellar ataxia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
136
|
23
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Hyporeflexia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
|
0.100 |
None |
|
0 |
|
|
|
Facial paralysis
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
182
|
3
|
0.100 |
None |
|
0 |
|
|
|
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.100 |
None |
|
0 |
|
|
|
Generalized amyotrophy
|
disease |
|
Disease or Syndrome
|
56
|
6
|
0.100 |
None |
|
0 |
|
|
|
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.100 |
None |
|
0 |
|
|
|