| POLG |
157640 |
Musculoskeletal-diseases |
|
musculoskeletal |
#2067633 |
| POLG |
258450 |
Musculoskeletal-diseases |
|
musculoskeletal |
#15477547 #16621917 #16715201 |
| POLG |
607459 |
Musculoskeletal-diseases |
|
musculoskeletal |
#12565911 |
| POLG |
258450 |
Foot-deformities |
pes cavus
|
musculoskeletal |
15477547 16715201 |
| POLG |
607459 |
Foot-deformities |
pes cavus; pes plano valgus
|
musculoskeletal |
12565911 |
| POLG |
157640 |
Muscular-diseases |
mitochondrial myopathy
|
musculoskeletal |
2067633 |
| POLG |
258450 |
Muscular-diseases |
type I fiber prevalence; type 2 fiber grouping; lipid droplets; glycogen increased; angular hypotrophic fibers; myopathy
|
musculoskeletal |
16621917 16715201 |
| POLG |
607459 |
Muscular-diseases |
variation in fiber size; necrotic muscle fibers; myopathy; early onset myopathy
|
musculoskeletal |
12565911 |
| POLG |
157640 |
Digestive-system-diseases |
|
gastrointestinal |
#2067633 #12975295 #15534189 |
| POLG |
203700 |
Digestive-system-diseases |
|
gastrointestinal |
#15689359 #15929042 #16177225 #16545482 #16621917 |
| POLG |
258450 |
Digestive-system-diseases |
|
gastrointestinal |
#12825077 #12975295 #14694057 #15477547 #16621917 #16638794 #16715201 |
| POLG |
607459 |
Digestive-system-diseases |
|
gastrointestinal |
#12565911 #15824347 |
| POLG |
203700 |
Biliary-tract-diseases |
|
gastrointestinal |
#15689359 #16177225 |
| POLG |
203700 |
Cholestasis |
bile ductule proliferation
|
gastrointestinal |
15689359 16177225 |
| POLG |
157640 |
Gastrointestinal-diseases |
|
gastrointestinal |
#2067633 #12975295 #15534189 |
| POLG |
258450 |
Gastrointestinal-diseases |
|
gastrointestinal |
#12825077 #12975295 #15477547 #16621917 #16715201 |
| POLG |
607459 |
Gastrointestinal-diseases |
|
gastrointestinal |
#12565911 |
| POLG |
157640 |
Deglutition-disorders |
dysphagia
|
gastrointestinal |
2067633 15534189 |
| POLG |
258450 |
Deglutition-disorders |
dysphagia
|
gastrointestinal |
15477547 16621917 16715201 |
| POLG |
607459 |
Deglutition-disorders |
difficulties swallowing; dysphagia
|
gastrointestinal |
12565911 |
| POLG |
157640 |
Intestinal-obstruction |
gastrointestinal dysmotility; alternating diarrhea and constipation
|
gastrointestinal |
12975295 |
| POLG |
258450 |
Intestinal-obstruction |
intestinal pseudoobstruction; gastroparesis; anorexia; gastrointestinal dysmotility; diarrhea and constipation; dysmotility; dilatation
|
gastrointestinal |
12825077 12975295 15477547 |
| POLG |
607459 |
Gastrointestinal-hemorrhage |
bleeding gastric ulcer
|
gastrointestinal |
12565911 |
| POLG |
203700 |
Liver-diseases |
hepatic failure; hepatopathy; cenrilobular necrosis
|
gastrointestinal |
#15689359 15929042 16177225 16545482 16621917 |
| POLG |
258450 |
Liver-diseases |
valproate induced; liver failure; hepatic failure; acute liver necrosis
|
gastrointestinal |
14694057 16638794 |
| POLG |
203700 |
Fatty-liver |
steatosis; fibrosis; necrosis
|
gastrointestinal |
15929042 16177225 |
| POLG |
258450 |
Fatty-liver |
steatosis; centrolobular degeneration; liver necrosis
|
gastrointestinal |
16638794 |
| POLG |
203700 |
Liver-cirrhosis |
micronodular
|
gastrointestinal |
15689359 16177225 |
| POLG |
203700 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated; GGT elevated
|
gastrointestinal |
15689359 16177225 |
| POLG |
258450 |
Liver-enzymes-abnormal |
liver enzymes elevated
|
gastrointestinal |
14694057 16638794 |
| POLG |
203700 |
Hepatomegaly |
|
gastrointestinal |
15689359 |
| POLG |
157640 |
Abdominal-pain |
abdominal cramping
|
gastrointestinal |
12975295 |
| POLG |
157640 |
Diarrhea |
alternating diarrhea and constipation
|
gastrointestinal |
12975295 |
| POLG |
258450 |
Diarrhea |
gastrointestinal dysmotility; diarrhea and constipation
|
gastrointestinal |
12975295 |
| POLG |
607459 |
Diarrhea |
cachexia; weight loss
|
gastrointestinal |
15824347 |
| POLG |
203700 |
Vomiting |
persistent; recurrent; frequent
|
gastrointestinal |
15689359 |
| POLG |
607459 |
Vomiting |
nausea; nausea and vomiting
|
gastrointestinal |
15824347 |
| POLG |
157640 |
Respiratory-tract-diseases |
|
respiratory |
#15351195 |
| POLG |
203700 |
Respiratory-tract-diseases |
|
respiratory |
#15689359 |
| POLG |
258450 |
Respiratory-tract-diseases |
|
respiratory |
#15477547 #16621917 |
| POLG |
607459 |
Respiratory-tract-diseases |
|
respiratory |
#12565911 |
| POLG |
157640 |
Bronchial-diseases |
|
respiratory |
#15351195 |
| POLG |
258450 |
Bronchial-diseases |
chronic bronchitis
|
respiratory |
16621917 |
| POLG |
157640 |
Asthma |
|
respiratory |
15351195 |
| POLG |
607459 |
Lung-diseases |
|
respiratory |
#12565911 |
| POLG |
607459 |
Pneumonia |
aspiration pneumonia
|
respiratory |
12565911 |
| POLG |
203700 |
Respiration-disorders |
|
respiratory |
#15689359 |
| POLG |
258450 |
Respiration-disorders |
|
respiratory |
#15477547 |
| POLG |
607459 |
Respiration-disorders |
|
respiratory |
#12565911 |
| POLG |
258450 |
Hyperventilation |
|
respiratory |
15477547 |
| POLG |
203700 |
Respiratory-insufficiency |
ventilatory insufficiency; due to generalized muscle weakness
|
respiratory |
15689359 |
| POLG |
607459 |
Respiratory-insufficiency |
|
respiratory |
12565911 |
| POLG |
157640 |
Nervous-system-diseases |
|
neurologic |
#11431686 #12975295 #15351195 #15534189 |
| POLG |
203700 |
Nervous-system-diseases |
|
neurologic |
#15689359 #15929042 #16177225 #16545482 #16621917 |
| POLG |
258450 |
Nervous-system-diseases |
|
neurologic |
#12825077 #12975295 #14694057 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201 |
| POLG |
607459 |
Nervous-system-diseases |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Central-nervous-system-diseases |
|
neurologic |
#15351195 #15534189 |
| POLG |
203700 |
Central-nervous-system-diseases |
|
neurologic |
#15689359 #15929042 #16177225 #16545482 #16621917 |
| POLG |
258450 |
Central-nervous-system-diseases |
|
neurologic |
#14694057 #15351195 #15477547 #16401742 #16621917 #16638794 |
| POLG |
607459 |
Central-nervous-system-diseases |
|
neurologic |
#12565911 #15824347 |
| POLG |
203700 |
Brain-diseases |
|
neurologic |
#15689359 #15929042 #16177225 #16545482 #16621917 |
| POLG |
258450 |
Brain-diseases |
|
neurologic |
#15477547 #16401742 #16621917 #16638794 |
| POLG |
607459 |
Brain-diseases |
|
neurologic |
#12565911 #15824347 |
| POLG |
203700 |
Encephalopathy |
encephalomalacia; fatal encephalopathy
|
neurologic |
15689359 15929042 16545482 16621917 |
| POLG |
203700 |
Cerebrovascular-disorders |
|
neurologic |
#16177225 |
| POLG |
607459 |
Cerebrovascular-disorders |
venous infarctions; cerebral hemispheres
|
neurologic |
15824347 |
| POLG |
203700 |
Intracranial-hemorrhages |
microhemorrhage
|
neurologic |
16177225 |
| POLG |
203700 |
Seizures |
intractable seizures; epilepsia partialis continua; refractory; mixed type seizures; epilepsy
|
neurologic |
15689359 15929042 16177225 16545482 16621917 |
| POLG |
258450 |
Seizures |
partial epileptic seizures; epilepsy; status epilepticus; tonic clonic seizures; motor seizures; myoclonus epilepsy
|
neurologic |
15477547 16401742 16621917 16638794 |
| POLG |
607459 |
Seizures |
epilepsy; status epilepticus
|
neurologic |
15824347 |
| POLG |
258450 |
Headache-disorders |
migraine; migraine like headache
|
neurologic |
16638794 |
| POLG |
607459 |
Headache-disorders |
migraine
|
neurologic |
15824347 |
| POLG |
203700 |
Leukoencephalopathy |
subcortical areas of the frontal lobes
|
neurologic |
15689359 16177225 |
| POLG |
203700 |
Cerebellar-atrophy |
cerebellar dysfunction
|
neurologic |
15689359 |
| POLG |
258450 |
Cerebellar-atrophy |
cerebellar vermis atrophy; superior cerebellar vermis atrophy
|
neurologic |
16638794 |
| POLG |
607459 |
Cerebellar-atrophy |
cerebellar atrophy
|
neurologic |
15824347 |
| POLG |
203700 |
Cerebral-atrophy |
MRI findings; diffuse; cerebral volume loss; ventriculomegaly
|
neurologic |
15689359 15929042 16177225 16545482 |
| POLG |
203700 |
Cerebral-necrosis |
spongiform changes
|
neurologic |
15929042 |
| POLG |
258450 |
Cerebral-necrosis |
subependymal and subpial regions
|
neurologic |
15477547 |
| POLG |
607459 |
Cerebral-necrosis |
secondary
|
neurologic |
15824347 |
| POLG |
203700 |
Electroencephalogram-abnormal |
high amplitude waves; slow waves; high frequency polyspikes; EEG abnormal
|
neurologic |
15689359 16177225 16545482 |
| POLG |
258450 |
Electroencephalogram-abnormal |
background slowing; occipital EEG focus
|
neurologic |
15477547 16638794 |
| POLG |
607459 |
Electroencephalogram-abnormal |
3/second spike and wave activity; atypical poly spike and wave complexes
|
neurologic |
12565911 15824347 |
| POLG |
157640 |
Movement-disorders |
|
neurologic |
#15351195 #15534189 |
| POLG |
203700 |
Movement-disorders |
|
neurologic |
#15689359 |
| POLG |
258450 |
Movement-disorders |
|
neurologic |
#14694057 #15351195 #15477547 #16638794 |
| POLG |
607459 |
Movement-disorders |
involuntary movements; heads; hands; rapid alternating movements
|
neurologic |
12565911 15824347 |
| POLG |
203700 |
Dystonic-disorders |
atacticÐdystonic syndrome; myogeneic torticollis
|
neurologic |
15689359 |
| POLG |
157640 |
Parkinsonian-disorders |
parkinsonism
|
neurologic |
15351195 15534189 |
| POLG |
258450 |
Parkinsonian-disorders |
parkinsonism
|
neurologic |
15351195 16638794 |
| POLG |
157640 |
Dyskinesias |
|
neurologic |
#15351195 #15534189 |
| POLG |
258450 |
Dyskinesias |
|
neurologic |
#15351195 #16638794 |
| POLG |
607459 |
Dyskinesias |
dysdiadochokinesia; fingers
|
neurologic |
15824347 |
| POLG |
607459 |
Athetosis |
pseudoathetoid movements; hands
|
neurologic |
12565911 |
| POLG |
157640 |
Bradykinesia |
|
neurologic |
15351195 15534189 |
| POLG |
258450 |
Bradykinesia |
|
neurologic |
15351195 16638794 |
| POLG |
157640 |
Tremor |
hand tremor; slowly progressive; resting tremor; head tremor
|
neurologic |
15351195 15534189 |
| POLG |
258450 |
Tremor |
minor tremor; resting tremor; upper limbs tremor; tremor and imbalance; head tremor
|
neurologic |
14694057 15351195 15477547 16638794 |
| POLG |
607459 |
Tremor |
upper limb tremor
|
neurologic |
15824347 |
| POLG |
157640 |
Neuronal-loss-and-lesions |
substantia nigra abnormal
|
neurologic |
15351195 |
| POLG |
203700 |
Neuronal-loss-and-lesions |
bilateral symmetric; basal ganglia abnormal; thalamus abnormal; cerebellar dentate nuclei abnormal; left occipital cortical abnormal; subcortical abnormal
|
neurologic |
15689359 15929042 |
| POLG |
258450 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; signal intensity abnormalities; hypothalamus abnormal; cerebellar white matter abnormal; thalamus abnormal; medulla oblongata abnormal; infarct like changes; inferior olives abnormal; basal ganglia abnormal; cerebellar nuclei abnormal; parietal cortex abnormal
|
neurologic |
15477547 16638794 |
| POLG |
607459 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; signal intensity abnormalities; cortical abnormalities; occipital poles abnormal; cerebellar hemispheres abnormal; thalamus abnormal; thalamic lesions
|
neurologic |
12565911 15824347 |
| POLG |
157640 |
Neurodegenerative-diseases |
|
neurologic |
15351195 |
| POLG |
203700 |
Neurodegenerative-diseases |
neurodegeneration
|
neurologic |
16545482 |
| POLG |
258450 |
Axonal-degeneration |
axonopathy; axonal neuropathy; EMG finding
|
neurologic |
15477547 16715201 |
| POLG |
157640 |
Neurologic-manifestations |
|
neurologic |
#11431686 #12975295 #15351195 #15534189 |
| POLG |
203700 |
Neurologic-manifestations |
|
neurologic |
#15689359 #16177225 #16621917 |
| POLG |
258450 |
Neurologic-manifestations |
|
neurologic |
#12825077 #12975295 #14694057 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201 |
| POLG |
607459 |
Neurologic-manifestations |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Ataxia |
|
neurologic |
12975295 15351195 |
| POLG |
203700 |
Ataxia |
|
neurologic |
15689359 |
| POLG |
258450 |
Ataxia |
balance disturbance; sensory ataxia; progressive ataxia; sensory ataxia; cerebellar ataxia; ataxic neuropathy
|
neurologic |
12825077 12975295 14694057 15477547 16621917 16638794 |
| POLG |
607459 |
Ataxia |
sensory ataxia; dysdiadochokinesia; dysmetria; unsteadiness; titubation; ataxic gait; ataxic
|
neurologic |
12565911 15824347 |
| POLG |
203700 |
Myoclonus |
right upper limp; myoclonus achalasia
|
neurologic |
15689359 16177225 16621917 |
| POLG |
258450 |
Myoclonus |
myoclonic jerks; myoclonus; palatal myoclonus; myokymia
|
neurologic |
14694057 15477547 16638794 |
| POLG |
607459 |
Myoclonus |
arms; titubation; myoclonic jerks; facial muscles
|
neurologic |
15824347 |
| POLG |
157640 |
Gait-disorders |
slowing; unsteadiness; balance difficulties
|
neurologic |
12975295 15534189 |
| POLG |
258450 |
Gait-disorders |
imbalance; romberg positive; unsteadiness; gait unsteadiness; steppage gait
|
neurologic |
14694057 15477547 16638794 16715201 |
| POLG |
607459 |
Gait-disorders |
unsteadiness; imbalance; romberg positive; balance disturbance; frequent falls; steppage gait; gait ataxia
|
neurologic |
12565911 15824347 |
| POLG |
157640 |
Neurobehavioral-manifestations |
|
neurologic |
#12975295 #15351195 #15534189 |
| POLG |
203700 |
Neurobehavioral-manifestations |
|
neurologic |
#15689359 |
| POLG |
258450 |
Neurobehavioral-manifestations |
|
neurologic |
#15477547 |
| POLG |
607459 |
Neurobehavioral-manifestations |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Speech-disorders |
slurred speech; communication impaired; speech impaired; due to oropharyngeal weakness and deafness
|
neurologic |
12975295 15534189 |
| POLG |
258450 |
Speech-disorders |
|
neurologic |
#15477547 |
| POLG |
607459 |
Speech-disorders |
|
neurologic |
#12565911 #15824347 |
| POLG |
258450 |
Dysarthria |
dysarthric; slurred speech
|
neurologic |
15477547 |
| POLG |
607459 |
Dysarthria |
|
neurologic |
12565911 15824347 |
| POLG |
607459 |
Confusion |
|
neurologic |
15824347 |
| POLG |
203700 |
Consciousness-disorders |
stupor; vegetative state
|
neurologic |
15689359 |
| POLG |
258450 |
Consciousness-disorders |
stupor
|
neurologic |
15477547 |
| POLG |
157640 |
Mental-retardation |
|
neurologic |
12975295 15351195 |
| POLG |
203700 |
Developmental-delay |
psychomotor retardation; psychomotor regression
|
neurologic |
15689359 15929042 16177225 16545482 |
| POLG |
258450 |
Developmental-delay |
psychomotor development delayed; speech delay
|
neurologic |
16638794 |
| POLG |
607459 |
Lethargy |
|
neurologic |
15824347 |
| POLG |
157640 |
Neuromuscular-manifestations |
|
neurologic |
#11431686 #12975295 #15351195 #15534189 |
| POLG |
203700 |
Neuromuscular-manifestations |
|
neurologic |
#15689359 |
| POLG |
258450 |
Neuromuscular-manifestations |
|
neurologic |
#12825077 #15351195 #15477547 #16401742 #16638794 #16715201 |
| POLG |
607459 |
Neuromuscular-manifestations |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Muscle-rigidity |
|
neurologic |
15351195 15534189 |
| POLG |
258450 |
Muscle-rigidity |
|
neurologic |
15351195 16638794 |
| POLG |
203700 |
Muscle-spasticity |
spasticity
|
neurologic |
15689359 |
| POLG |
203700 |
Muscle-hypotonia |
|
neurologic |
15689359 |
| POLG |
157640 |
Muscle-weakness |
proximal; pharynx; oropharyngeal muscle weakness; generalized
|
neurologic |
11431686 12975295 15351195 15534189 |
| POLG |
203700 |
Muscle-weakness |
generalized
|
neurologic |
15689359 |
| POLG |
258450 |
Muscle-weakness |
proximal; pharynx; progressive weakness; facial muscle weakness
|
neurologic |
12825077 15351195 15477547 16401742 16715201 |
| POLG |
607459 |
Muscle-weakness |
facial weakness; generalized weakness
|
neurologic |
12565911 |
| POLG |
258450 |
Muscular-atrophy |
distal lower limbs; muscle wasting
|
neurologic |
15477547 16401742 16715201 |
| POLG |
607459 |
Muscular-atrophy |
muscle wasting; amyotrophy; progressive muscle atrophy
|
neurologic |
12565911 15824347 |
| POLG |
607459 |
Myotonia |
myotonic discharges; biceps muscle; extensor digitorum communis muscles
|
neurologic |
12565911 |
| POLG |
157640 |
Electromyography-abnormal |
neuropathic changes; myogenic changes; mixed
|
neurologic |
12975295 |
| POLG |
607459 |
Electromyography-abnormal |
myogenic signs; chronic reinnervation; fibrillations; abductor pollicis brevis muscle fibrillations
|
neurologic |
12565911 |
| POLG |
258450 |
Paralysis-Paresis |
tetraparesis
|
neurologic |
16401742 |
| POLG |
607459 |
Paralysis-Paresis |
foot dorsiflexors paresis; limb paresis
|
neurologic |
12565911 |
| POLG |
157640 |
Reflexes-abnormal |
|
neurologic |
#15351195 #15534189 |
| POLG |
203700 |
Reflexes-abnormal |
|
neurologic |
#15689359 |
| POLG |
258450 |
Reflexes-abnormal |
|
neurologic |
#12975295 #14694057 #15477547 #16715201 |
| POLG |
607459 |
Reflexes-abnormal |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Hyporeflexia |
weak; absent; achilles reflexes absent
|
neurologic |
15351195 15534189 |
| POLG |
203700 |
Hyporeflexia |
deep tendon reflexes absent; areflexia
|
neurologic |
15689359 |
| POLG |
258450 |
Hyporeflexia |
deep tendon reflexes absent; areflexia
|
neurologic |
12975295 14694057 15477547 16715201 |
| POLG |
607459 |
Hyporeflexia |
deep tendon reflexes absent; areflexia
|
neurologic |
12565911 15824347 |
| POLG |
258450 |
Pyramidal-tract-signs |
extensor plantar response; babinski sign
|
neurologic |
15477547 |
| POLG |
157640 |
Hearing-disorders |
hearing loss; sensorineural; hypacusis; progressive
|
neurologic |
12975295 15351195 |
| POLG |
258450 |
Hearing-disorders |
hearing loss; deafness
|
neurologic |
16401742 16621917 |
| POLG |
607459 |
Hearing-disorders |
hearing loss
|
neurologic |
12565911 |
| POLG |
258450 |
Voice-disorders |
dysphonia
|
neurologic |
16715201 |
| POLG |
607459 |
Voice-disorders |
nasal voice; dysphonia
|
neurologic |
12565911 |
| POLG |
203700 |
Stroke-like-episodes |
|
neurologic |
16621917 |
| POLG |
157640 |
Peripheral-nervous-system-diseases |
|
neurologic |
#12975295 #15351195 #15534189 |
| POLG |
258450 |
Peripheral-nervous-system-diseases |
|
neurologic |
#12825077 #12975295 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201 |
| POLG |
607459 |
Peripheral-nervous-system-diseases |
|
neurologic |
#12565911 #15824347 |
| POLG |
157640 |
Polyneuropathies |
sensorimotor neuropathy; polyneuropathy; lower extremities; numbness; stocking glove numbness
|
neurologic |
12975295 15351195 15534189 |
| POLG |
258450 |
Polyneuropathies |
sensorimotor neuropathy; polyneuropathy; hypoesthesia; stocking hypoaesthesia; axonal neuropathy; peripheral neuropathy; hypomyelination; neuropathy
|
neurologic |
12825077 15351195 15477547 16401742 16621917 16638794 16715201 |
| POLG |
607459 |
Polyneuropathies |
sensory neuropathy; ataxic neuropathy; touch sensation decreased; temperature sensation decreased; myelinated fiber loss; axonal neuropathy; hypoesthesia
|
neurologic |
12565911 15824347 |
| POLG |
157640 |
Proprioception-impaired |
vibration sense loss; lower extremities
|
neurologic |
12975295 15534189 |
| POLG |
258450 |
Proprioception-impaired |
vibration sense loss; lower extremities; ankle vibration sense impaired
|
neurologic |
12975295 15477547 16715201 |
| POLG |
607459 |
Proprioception-impaired |
vibratory sensation decreased
|
neurologic |
12565911 15824347 |
| POLG |
157640 |
Eye-diseases |
|
ophthalmologic |
#2067633 #11431686 #12975295 #15351195 #15534189 |
| POLG |
203700 |
Eye-diseases |
|
ophthalmologic |
#15689359 #16177225 #16545482 #16621917 |
| POLG |
258450 |
Eye-diseases |
|
ophthalmologic |
#12707443 #12825077 #12975295 #15351195 #15477547 #16401742 #16621917 #16638794 #16715201 |
| POLG |
607459 |
Eye-diseases |
|
ophthalmologic |
#12565911 #15824347 |
| POLG |
157640 |
Blepharoptosis |
bilateral ptosis; progressive
|
ophthalmologic |
12975295 15351195 15534189 |
| POLG |
258450 |
Blepharoptosis |
bilateral ptosis; ptosis
|
ophthalmologic |
12707443 12975295 15351195 15477547 16401742 16638794 16715201 |
| POLG |
607459 |
Blepharoptosis |
ptosis
|
ophthalmologic |
12565911 |
| POLG |
157640 |
Lens-diseases |
|
ophthalmologic |
#2067633 #12975295 #15351195 #15534189 |
| POLG |
258450 |
Lens-diseases |
|
ophthalmologic |
#12975295 #15351195 #15477547 |
| POLG |
157640 |
Cataract |
|
ophthalmologic |
2067633 12975295 15351195 15534189 |
| POLG |
258450 |
Cataract |
|
ophthalmologic |
12975295 15351195 15477547 |
| POLG |
157640 |
Ocular-motility-disorders |
difficulty eye moving; head turning to fixate on objects; eye movements impaired
|
ophthalmologic |
#2067633 #11431686 12975295 #15351195 #15534189 |
| POLG |
203700 |
Ocular-motility-disorders |
|
ophthalmologic |
#15689359 |
| POLG |
258450 |
Ocular-motility-disorders |
eye movement disorder; limitation of eye movements; eye movements abnormal
|
ophthalmologic |
12707443 #12825077 12975295 #15351195 #15477547 #16401742 #16621917 16638794 16715201 |
| POLG |
607459 |
Ocular-motility-disorders |
|
ophthalmologic |
#12565911 #15824347 |
| POLG |
203700 |
Pathologic-nystagmus |
|
ophthalmologic |
15689359 |
| POLG |
258450 |
Pathologic-nystagmus |
vertical nystagmus; gaze evoked nystagmus
|
ophthalmologic |
15477547 16638794 |
| POLG |
607459 |
Pathologic-nystagmus |
horizontal nystagmus; vertical nystagmus; peripheral vestibular dysfunction
|
ophthalmologic |
12565911 15824347 |
| POLG |
157640 |
Ophthalmoplegia |
ophthalmoparesis
|
ophthalmologic |
2067633 11431686 12975295 15351195 15534189 |
| POLG |
258450 |
Ophthalmoplegia |
ophthalmoparesis; late onset ophthalmoplegia
|
ophthalmologic |
12825077 12975295 15351195 15477547 16401742 16621917 16638794 16715201 |
| POLG |
607459 |
Ophthalmoplegia |
ophthalmoparesis
|
ophthalmologic |
12565911 15824347 |
| POLG |
203700 |
Strabismus |
squint
|
ophthalmologic |
15689359 |
| POLG |
607459 |
Strabismus |
squint; divergent strabismus
|
ophthalmologic |
15824347 |
| POLG |
203700 |
Optic-nerve-diseases |
optic disc pallor
|
ophthalmologic |
15689359 16177225 16545482 |
| POLG |
157640 |
Retinal-diseases |
pigmentary retinopathy
|
ophthalmologic |
15351195 |
| POLG |
607459 |
Retinal-diseases |
pepper and salt retinopathy; retinopathy
|
ophthalmologic |
12565911 |
| POLG |
157640 |
Vision-disorders |
|
ophthalmologic |
#15534189 |
| POLG |
203700 |
Vision-disorders |
vision loss; blindness; cortical blindness; blindness
|
ophthalmologic |
15689359 16177225 16545482 16621917 |
| POLG |
258450 |
Vision-disorders |
blindness; cortical blindness; visual signs; blurred vision; scotomata; flashes; visual phenomena
|
ophthalmologic |
15477547 16638794 |
| POLG |
607459 |
Vision-disorders |
blurred vision; viual field defect; positive phenomena such as stars lights flashing
|
ophthalmologic |
15824347 |
| POLG |
157640 |
Diplopia |
|
ophthalmologic |
15534189 |
| POLG |
607459 |
Electroretinography-abnormal |
mild reduction in the amplitude of the b wave; scotopic ERG abnormal
|
ophthalmologic |
12565911 |
| POLG |
157640 |
Genitourinary-diseases |
|
genitourinary |
#15351195 |
| POLG |
174763 |
Genitourinary-diseases |
|
genitourinary |
#11687794 #14688158 |
| POLG |
258450 |
Genitourinary-diseases |
|
genitourinary |
#15351195 |
| POLG |
174763 |
Male-genital-diseases |
|
genitourinary |
#11687794 #14688158 |
| POLG |
174763 |
Infertility-male |
male infertility; spermatogenesis impaired
|
genitourinary |
11687794 14688158 |
| POLG |
157640 |
Female-genital-diseases |
|
genitourinary |
#15351195 |
| POLG |
258450 |
Female-genital-diseases |
|
genitourinary |
#15351195 |
| POLG |
157640 |
Menstruation-disturbances |
premature menopause
|
genitourinary |
15351195 |
| POLG |
258450 |
Menstruation-disturbances |
premature menopause
|
genitourinary |
15351195 |
| POLG |
157640 |
Cardiovascular-diseases |
|
cardiovascular |
#2067633 #15534189 |
| POLG |
203700 |
Cardiovascular-diseases |
|
cardiovascular |
#16621917 |
| POLG |
258450 |
Cardiovascular-diseases |
|
cardiovascular |
#12975295 #14694057 #15477547 #16401742 #16621917 |
| POLG |
607459 |
Cardiovascular-diseases |
|
cardiovascular |
#12565911 |
| POLG |
203700 |
Heart-diseases |
|
cardiovascular |
#16621917 |
| POLG |
258450 |
Heart-diseases |
|
cardiovascular |
#14694057 #15477547 #16401742 #16621917 |
| POLG |
607459 |
Heart-diseases |
|
cardiovascular |
#12565911 |
| POLG |
203700 |
Cardiomyopathy |
|
cardiovascular |
16621917 |
| POLG |
258450 |
Cardiomyopathy |
incipient cardiomyopathy; dilated; atrial hypertrophy
|
cardiovascular |
14694057 15477547 16401742 16621917 |
| POLG |
157640 |
Cardiorespiratory-arrest |
|
cardiovascular |
2067633 |
| POLG |
258450 |
Cardiorespiratory-arrest |
sudden death
|
cardiovascular |
15477547 |
| POLG |
607459 |
Heart-valve-diseases |
mitral valve prolapse; mitral insufficiency
|
cardiovascular |
12565911 |
| POLG |
157640 |
Vascular-diseases |
|
cardiovascular |
#15534189 |
| POLG |
258450 |
Vascular-diseases |
|
cardiovascular |
#12975295 |
| POLG |
157640 |
Hypertension |
history of hypertension
|
cardiovascular |
15534189 |
| POLG |
258450 |
Hypotension |
|
cardiovascular |
#12975295 |
| POLG |
258450 |
Orthostatic-hypotension |
orthostatic dizziness
|
cardiovascular |
12975295 |
| POLG |
203700 |
Hematologic-diseases |
|
hematologic |
#15689359 #16177225 #16545482 |
| POLG |
258450 |
Hematologic-diseases |
|
hematologic |
#16638794 |
| POLG |
203700 |
Blood-coagulation-disorders |
hypocoagulation; hypercoagulopathy
|
hematologic |
15689359 16177225 |
| POLG |
258450 |
Blood-coagulation-disorders |
disseminated intravascular coagulation
|
hematologic |
16638794 |
| POLG |
203700 |
Blood-protein-disorders |
|
hematologic |
#15689359 #16177225 #16545482 |
| POLG |
258450 |
Blood-protein-disorders |
|
hematologic |
#16638794 |
| POLG |
203700 |
Hypoalbuminemia |
albumin levels decreased; CSF
|
hematologic |
15689359 16177225 16545482 |
| POLG |
258450 |
Hypoalbuminemia |
albumin low
|
hematologic |
16638794 |
| POLG |
157640 |
Metabolic-diseases |
|
metabolic |
#2067633 #12975295 #15534189 |
| POLG |
203700 |
Metabolic-diseases |
|
metabolic |
#15689359 #15929042 #16177225 #16545482 |
| POLG |
258450 |
Metabolic-diseases |
|
metabolic |
#14694057 #15477547 #16621917 #16638794 |
| POLG |
607459 |
Metabolic-diseases |
|
metabolic |
#12565911 #15824347 |
| POLG |
157640 |
Acid-base-imbalance |
|
metabolic |
#2067633 |
| POLG |
203700 |
Acid-base-imbalance |
|
metabolic |
#15689359 #15929042 #16177225 #16545482 |
| POLG |
258450 |
Acid-base-imbalance |
|
metabolic |
#15477547 #16638794 |
| POLG |
157640 |
Acidosis |
lactic acidosis
|
metabolic |
2067633 |
| POLG |
203700 |
Acidosis |
lactic acidosis; blood; CSF
|
metabolic |
15689359 15929042 16177225 16545482 |
| POLG |
258450 |
Acidosis |
lactic acidosis
|
metabolic |
15477547 16638794 |
| POLG |
258450 |
Metabolic-brain-diseases |
CSF protein elevated
|
metabolic |
15477547 16638794 |
| POLG |
607459 |
Metabolic-brain-diseases |
CSF protein elevated
|
metabolic |
12565911 15824347 |
| POLG |
157640 |
Glucose-metabolism-disorders |
|
metabolic |
#12975295 |
| POLG |
203700 |
Glucose-metabolism-disorders |
|
metabolic |
#15689359 #16177225 |
| POLG |
258450 |
Glucose-metabolism-disorders |
|
metabolic |
#16621917 |
| POLG |
157640 |
Diabetes-mellitus |
diabetes in several family members
|
metabolic |
12975295 |
| POLG |
258450 |
Diabetes-mellitus |
diabetes
|
metabolic |
16621917 |
| POLG |
203700 |
Hypoglycemia |
|
metabolic |
15689359 16177225 |
| POLG |
203700 |
Hyperbilirubinemia |
jaundice
|
metabolic |
15689359 |
| POLG |
258450 |
Hyperbilirubinemia |
bilirubin elevated
|
metabolic |
14694057 |
| POLG |
157640 |
Carnitine-levels-abnormal |
low
|
metabolic |
15534189 |
| POLG |
203700 |
Organic-acids-abnormal |
|
metabolic |
15689359 |
| POLG |
203700 |
Dicarboxylic-aciduria |
|
metabolic |
15689359 |
| POLG |
157640 |
Endocrine-system-diseases |
|
endocrinologic |
#12975295 #15351195 #15534189 |
| POLG |
258450 |
Endocrine-system-diseases |
|
endocrinologic |
#16621917 |
| POLG |
157640 |
Gonadal-disorders |
|
endocrinologic |
#12975295 #15351195 #15534189 |
| POLG |
157640 |
Hypogonadism |
hypogonadism; low oestrogen; high gonadotropins; testicular atrophy; gonadal dysgenesis; genital defects
|
endocrinologic |
12975295 15351195 15534189 |
| POLG |
157640 |
Hypoandrogenism |
testosteron decreased; gonadotropins elevated; oestrogen decreased
|
endocrinologic |
12975295 15351195 15534189 |
| POLG |
157640 |
Thyroid-diseases |
|
endocrinologic |
#15351195 |
| POLG |
258450 |
Thyroid-diseases |
|
endocrinologic |
16621917 |
| POLG |
157640 |
Goiter |
|
endocrinologic |
15351195 |
| POLG |
157640 |
Hypothyroidism |
|
endocrinologic |
15351195 |
| POLG |
203700 |
Immune-system-diseases |
|
immunologic |
#16177225 #16545482 |
| POLG |
607459 |
Immune-system-diseases |
|
immunologic |
#12565911 |
| POLG |
203700 |
Infections |
intercurrent; infection triggered episodes
|
immunologic |
16177225 16545482 |
| POLG |
607459 |
Infections |
respiratory tract infections
|
immunologic |
12565911 |
| POLG |
157640 |
Psychiatric-disorders |
|
psychiatric |
#15351195 |
| POLG |
258450 |
Psychiatric-disorders |
acute psychatric illness
|
psychiatric |
#14694057 #15351195 15477547 #16621917 #16638794 |
| POLG |
607459 |
Psychiatric-disorders |
psychiatric features
|
psychiatric |
12565911 #15824347 |
| POLG |
157640 |
Mental-disorders |
|
psychiatric |
#15351195 |
| POLG |
258450 |
Mental-disorders |
|
psychiatric |
#14694057 #15351195 #15477547 #16621917 #16638794 |
| POLG |
607459 |
Mental-disorders |
|
psychiatric |
#12565911 #15824347 |
| POLG |
157640 |
Dementia |
|
psychiatric |
15351195 |
| POLG |
258450 |
Dementia |
cognitive impairment; cognitive decline
|
psychiatric |
14694057 15477547 16621917 16638794 |
| POLG |
607459 |
Dementia |
poor memory; cognitive impairment; demented
|
psychiatric |
12565911 15824347 |
| POLG |
157640 |
Mood-disorders |
|
psychiatric |
#15351195 |
| POLG |
258450 |
Mood-disorders |
|
psychiatric |
#15351195 |
| POLG |
607459 |
Mood-disorders |
unsteadiness; euphoric; emotional instability
|
psychiatric |
12565911 15824347 |
| POLG |
157640 |
Depressive-disorder |
periodic
|
psychiatric |
15351195 |
| POLG |
258450 |
Depressive-disorder |
periodic
|
psychiatric |
15351195 |
| POLG |
607459 |
Depressive-disorder |
attempted suicide; depression
|
psychiatric |
12565911 15824347 |
| POLG |
258450 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#16621917 |
| POLG |
258450 |
Psychotic-disorders |
psychosis
|
psychiatric |
16621917 |
| POLG |
258450 |
Cachexia |
|
miscellaneous |
12825077 |
| POLG |
607459 |
Cachexia |
weight loss; cachexia
|
miscellaneous |
12565911 15824347 |
| POLG |
157640 |
Exercise-intolerance |
fatigue
|
miscellaneous |
2067633 12975295 15351195 15534189 |
| POLG |
258450 |
Exercise-intolerance |
fatigue
|
miscellaneous |
15351195 16621917 |
| POLG |
607459 |
Exercise-intolerance |
progressive exercise intolerance; fatigue
|
miscellaneous |
12565911 |
| POLG |
203700 |
Growth-disorders |
|
miscellaneous |
#15689359 |
| POLG |
203700 |
Failure-to-thrive |
|
miscellaneous |
15689359 |
| POLG |
157640 |
Mitochondria-abnormal |
Ragged red fibers; subsarcolemal accumulation of abnormally structured mitochondria; paracrystalline inclusions
|
miscellaneous |
2067633 11431686 12975295 15351195 15534189 |
| POLG |
203700 |
Mitochondria-abnormal |
liver; heart; brain
|
miscellaneous |
15689359 |
| POLG |
258450 |
Mitochondria-abnormal |
Ragged red fibers; subsarcolemmal accumulation; inclusions
|
miscellaneous |
12707443 12825077 12975295 15351195 15477547 16401742 16715201 |
| POLG |
607459 |
Mitochondria-abnormal |
Ragged red fibers; cox deficient fibers; abnormally structured mitochondria; crystalline inclusions; RRF; concentric cristae
|
miscellaneous |
12565911 15824347 |
| POLG |
258450 |
Creatine-kinase-abnormal |
elevated
|
miscellaneous |
14694057 15477547 16401742 |
| POLG |
607459 |
Creatine-kinase-abnormal |
elevated
|
miscellaneous |
12565911 |
| POLG |
157640 |
RCCI-deficiency |
muscle
|
miscellaneous |
2067633 12975295 15534189 |
| POLG |
203700 |
RCCI-deficiency |
liver
|
miscellaneous |
15929042 16177225 |
| POLG |
258450 |
RCCI-deficiency |
muscle
|
miscellaneous |
12825077 12975295 16401742 16715201 |
| POLG |
258450 |
RCCII-deficiency |
|
miscellaneous |
16401742 |
| POLG |
157640 |
RCCIII-deficiency |
muscle
|
miscellaneous |
12975295 15534189 |
| POLG |
203700 |
RCCIII-deficiency |
liver
|
miscellaneous |
15929042 16177225 |
| POLG |
258450 |
RCCIII-deficiency |
muscle
|
miscellaneous |
12975295 16401742 16715201 |
| POLG |
157640 |
RCCIV-deficiency |
muscle
|
miscellaneous |
2067633 12975295 15534189 |
| POLG |
203700 |
RCCIV-deficiency |
liver
|
miscellaneous |
15929042 16177225 |
| POLG |
258450 |
RCCIV-deficiency |
muscle
|
miscellaneous |
12825077 12975295 16401742 16715201 |
