| PEO1 |
271245 |
Musculoskeletal-diseases |
|
musculoskeletal |
#8133312 #9879682 |
| PEO1 |
607459 |
Musculoskeletal-diseases |
|
musculoskeletal |
#15668446 |
| PEO1 |
609286 |
Musculoskeletal-diseases |
|
musculoskeletal |
#1634620 #10522883 #12163192 #12921794 #15258213 |
| PEO1 |
271245 |
Bone-diseases |
|
musculoskeletal |
#8133312 |
| PEO1 |
609286 |
Bone-diseases |
|
musculoskeletal |
#15258213 |
| PEO1 |
609286 |
Metabolic-bone-diseases |
|
musculoskeletal |
#15258213 |
| PEO1 |
609286 |
Osteoporosis |
idiopathic osteoporosis
|
musculoskeletal |
15258213 |
| PEO1 |
271245 |
Spinal-diseases |
scoliosis; thoracic scoliosis
|
musculoskeletal |
8133312 |
| PEO1 |
271245 |
Foot-deformities |
pes planus; pes cavus; planovalgus
|
musculoskeletal |
8133312 9879682 |
| PEO1 |
607459 |
Muscular-diseases |
myopathic pattern
|
musculoskeletal |
15668446 |
| PEO1 |
609286 |
Muscular-diseases |
reduced muscle bulk; mitochondrial myopathy; COX deficient fibers
|
musculoskeletal |
1634620 10522883 12163192 12921794 15258213 |
| PEO1 |
271245 |
Digestive-system-diseases |
|
gastrointestinal |
#8133312 #9879682 |
| PEO1 |
609286 |
Digestive-system-diseases |
|
gastrointestinal |
#1634620 #15258213 |
| PEO1 |
271245 |
Gastrointestinal-diseases |
|
gastrointestinal |
#9879682 |
| PEO1 |
609286 |
Gastrointestinal-diseases |
|
gastrointestinal |
#15258213 |
| PEO1 |
609286 |
Deglutition-disorders |
dysphagia
|
gastrointestinal |
15258213 |
| PEO1 |
271245 |
Intestinal-obstruction |
obstipation; constipation
|
gastrointestinal |
9879682 |
| PEO1 |
271245 |
Liver-diseases |
|
gastrointestinal |
#9879682 |
| PEO1 |
609286 |
Liver-diseases |
|
gastrointestinal |
#1634620 |
| PEO1 |
271245 |
Fatty-liver |
Pathology findings; liver fatty degeneration; liver congestion
|
gastrointestinal |
9879682 |
| PEO1 |
609286 |
Fatty-liver |
hepatic fatty infiltration
|
gastrointestinal |
1634620 |
| PEO1 |
271245 |
Abdominal-pain |
episodes
|
gastrointestinal |
8133312 |
| PEO1 |
271245 |
Vomiting |
episodes
|
gastrointestinal |
8133312 |
| PEO1 |
271245 |
Respiratory-tract-diseases |
|
respiratory |
#8133312 #9879682 |
| PEO1 |
609286 |
Respiratory-tract-diseases |
|
respiratory |
#1634620 #12163192 #15258213 |
| PEO1 |
271245 |
Lung-diseases |
|
respiratory |
#8133312 #9879682 |
| PEO1 |
271245 |
Pneumonia |
bronchopneumonia
|
respiratory |
8133312 9879682 |
| PEO1 |
271245 |
Pulmonary-edema |
Pathology findings; pulmonary stasis and edema
|
respiratory |
9879682 |
| PEO1 |
609286 |
Respiration-disorders |
|
respiratory |
#1634620 #12163192 #15258213 |
| PEO1 |
609286 |
Respiratory-insufficiency |
sudden respiratory insufficiency; related to muscle weakness; chest wall weakness; respiratory failure
|
respiratory |
1634620 12163192 15258213 |
| PEO1 |
271245 |
Nervous-system-diseases |
|
neurologic |
#8133312 #8159181 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Nervous-system-diseases |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Nervous-system-diseases |
|
neurologic |
#1634620 #10522883 #12163192 #15258213 |
| PEO1 |
271245 |
Central-nervous-system-diseases |
|
neurologic |
#8133312 #8159181 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Central-nervous-system-diseases |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Central-nervous-system-diseases |
|
neurologic |
#1634620 |
| PEO1 |
271245 |
Brain-diseases |
|
neurologic |
#8133312 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Brain-diseases |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Brain-diseases |
|
neurologic |
#1634620 |
| PEO1 |
609286 |
Brain-edema |
cerebral edema
|
neurologic |
1634620 |
| PEO1 |
609286 |
Encephalopathy |
hypoxic ischemic; hipocampus; cerebellum
|
neurologic |
1634620 |
| PEO1 |
271245 |
Seizures |
epileptic seizures; epilepsy; status epilepticus; seizure attacks; convulsions
|
neurologic |
8133312 8552218 9027505 9879682 16135556 |
| PEO1 |
607459 |
Seizures |
generalized convulsions; recurrent seizures
|
neurologic |
15668446 |
| PEO1 |
271245 |
Cerebellar-atrophy |
MRI findings; Pathology findings; Purkinje cells loss; neuronal loss and necrosis; cerebellar hemispheres degeneration; cerebellar atrophy
|
neurologic |
8133312 9027505 9879682 16135556 |
| PEO1 |
271245 |
Cerebral-atrophy |
brain stem atrophy; cortical atrophy; cortical subacute atrophy
|
neurologic |
9027505 9879682 16135556 |
| PEO1 |
607459 |
Cerebral-atrophy |
cortical atrophy
|
neurologic |
15668446 |
| PEO1 |
607459 |
Cerebral-necrosis |
|
neurologic |
15668446 |
| PEO1 |
271245 |
Electroencephalogram-abnormal |
background activity abnormal; slow wave focus; slow and spike wave burst
|
neurologic |
8133312 9879682 |
| PEO1 |
271245 |
Movement-disorders |
hand movements abnormal; peculiar facial movements; athetoid movements
|
neurologic |
8133312 #8159181 #8552218 #9027505 9879682 #16135556 |
| PEO1 |
271245 |
Athetosis |
athetoid movements; hands; face; athetoid jerky movements
|
neurologic |
8133312 8159181 8552218 9027505 9879682 16135556 |
| PEO1 |
271245 |
Spinal-cord-diseases |
spinal cord atrophy; medulla oblongata atrophy; Pathology findings; spinal cord flattened; thoracic cord thinned; posterior columns degeneration
|
neurologic |
9027505 9879682 16135556 |
| PEO1 |
271245 |
Neuronal-loss-and-lesions |
Pathology findings; posterior columns degeneration; myelin loss and necrosis; spinocerebellar tract degeneration; neuronal loss in dorsal nucleus; lateral geniculate nuclei abnormal; medial thalami abnormal
|
neurologic |
9879682 |
| PEO1 |
607459 |
Neuronal-loss-and-lesions |
MRI findings; cortical atrophy
|
neurologic |
15668446 |
| PEO1 |
271245 |
Neurodegenerative-diseases |
neurodegenerative disorder; loss of myelinated fibers; progressive
|
neurologic |
8133312 9879682 16135556 |
| PEO1 |
271245 |
Axonal-degeneration |
degeneration of myelinated fibers; motor neuron lesion; axonal clustering; endoneural fibrosis; posterior columns degeneration
|
neurologic |
8133312 9879682 |
| PEO1 |
607459 |
Axonal-degeneration |
axonal neuropathy
|
neurologic |
15668446 |
| PEO1 |
271245 |
Neurologic-manifestations |
|
neurologic |
#8133312 #8159181 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Neurologic-manifestations |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Neurologic-manifestations |
|
neurologic |
#1634620 #10522883 #12163192 #15258213 |
| PEO1 |
271245 |
Ataxia |
spinocerebellar ataxia; cerebellar ataxia
|
neurologic |
8133312 8159181 8552218 9879682 16135556 |
| PEO1 |
607459 |
Ataxia |
sensory ataxia; dysmetria
|
neurologic |
15668446 |
| PEO1 |
271245 |
Gait-disorders |
loss of ability to walk; gait clumsiness; clumsy
|
neurologic |
8133312 8159181 9879682 |
| PEO1 |
607459 |
Gait-disorders |
gait abnormalities; sensory ataxic gait
|
neurologic |
15668446 |
| PEO1 |
609286 |
Gait-disorders |
stair climbing problems; poor balance; unsteady
|
neurologic |
12163192 15258213 |
| PEO1 |
271245 |
Neurobehavioral-manifestations |
|
neurologic |
#8133312 #9879682 |
| PEO1 |
607459 |
Neurobehavioral-manifestations |
|
neurologic |
#15668446 |
| PEO1 |
271245 |
Speech-disorders |
speech development impaired; loss of speech
|
neurologic |
8133312 9879682 |
| PEO1 |
607459 |
Speech-disorders |
|
neurologic |
#15668446 |
| PEO1 |
271245 |
Dysarthria |
dysarthric
|
neurologic |
8133312 |
| PEO1 |
607459 |
Dysarthria |
dysarthric speech
|
neurologic |
15668446 |
| PEO1 |
607459 |
Confusion |
desorientation
|
neurologic |
15668446 |
| PEO1 |
271245 |
Consciousness-disorders |
status epilepticus related
|
neurologic |
8133312 9879682 |
| PEO1 |
607459 |
Memory-disorders |
deficiencies in short term memory; divided attention
|
neurologic |
15668446 |
| PEO1 |
271245 |
Mental-retardation |
mentally retarded; intelligence subnormal; mild; moderate; variable
|
neurologic |
8133312 |
| PEO1 |
271245 |
Developmental-delay |
speech development arrest
|
neurologic |
8133312 |
| PEO1 |
609286 |
Developmental-delay |
psychomotor retardation; episodes
|
neurologic |
1634620 |
| PEO1 |
271245 |
Neuromuscular-manifestations |
|
neurologic |
#8133312 #8159181 #8552218 #9879682 #16135556 |
| PEO1 |
607459 |
Neuromuscular-manifestations |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Neuromuscular-manifestations |
|
neurologic |
#1634620 #10522883 #12163192 #15258213 |
| PEO1 |
271245 |
Muscle-hypotonia |
|
neurologic |
8133312 8159181 8552218 9879682 16135556 |
| PEO1 |
271245 |
Muscle-weakness |
facial muscles; lower extremities weakness
|
neurologic |
8133312 |
| PEO1 |
607459 |
Muscle-weakness |
proximal leg weakness; limb weakness
|
neurologic |
15668446 |
| PEO1 |
609286 |
Muscle-weakness |
proximal weakness; shoulder; quadriceps muscles; eye closure weakness
|
neurologic |
1634620 10522883 12163192 15258213 |
| PEO1 |
271245 |
Muscular-atrophy |
thigh muscles; lower extremities; hand muscles
|
neurologic |
8133312 9879682 |
| PEO1 |
609286 |
Muscular-atrophy |
proximal; shoulder; quadriceps muscles
|
neurologic |
15258213 |
| PEO1 |
271245 |
Electromyography-abnormal |
neurogenic changes; neurogenic lesions
|
neurologic |
8133312 |
| PEO1 |
609286 |
Electromyography-abnormal |
EMG patterns abnormal; brachioradialis muscle; primary muscle disease features; myopathic pattern; motor unit polyphasia; interference pattern reduced
|
neurologic |
10522883 12163192 15258213 |
| PEO1 |
609286 |
Muscle-aching-and-stiffness |
muscle pain
|
neurologic |
12163192 |
| PEO1 |
271245 |
Paralysis-Paresis |
tetraparesis; paraparetic; paraparesis
|
neurologic |
8133312 |
| PEO1 |
607459 |
Paralysis-Paresis |
paraparesis
|
neurologic |
15668446 |
| PEO1 |
271245 |
Reflexes-abnormal |
|
neurologic |
#8133312 #8159181 #8552218 #9879682 #16135556 |
| PEO1 |
607459 |
Reflexes-abnormal |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Reflexes-abnormal |
|
neurologic |
#12163192 #15258213 |
| PEO1 |
609286 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal
|
neurologic |
12163192 |
| PEO1 |
271245 |
Hyporeflexia |
reflex loss; deep tendon reflexes abnormal
|
neurologic |
8133312 8159181 8552218 9879682 16135556 |
| PEO1 |
607459 |
Hyporeflexia |
areflexia; diminished tendon reflexes
|
neurologic |
15668446 |
| PEO1 |
609286 |
Hyporeflexia |
absent; deep tendon reflexes absent
|
neurologic |
15258213 |
| PEO1 |
271245 |
Pyramidal-tract-signs |
extensor plantar response; babinski sign
|
neurologic |
8133312 |
| PEO1 |
271245 |
Hearing-disorders |
hypacusis; hearing loss; sensorineural; hearing deficit; deafness
|
neurologic |
8133312 8159181 8552218 9027505 9879682 16135556 |
| PEO1 |
609286 |
Hearing-disorders |
hearing loss
|
neurologic |
15258213 |
| PEO1 |
271245 |
Peripheral-nervous-system-diseases |
|
neurologic |
#8133312 #8159181 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Peripheral-nervous-system-diseases |
|
neurologic |
#15668446 |
| PEO1 |
609286 |
Peripheral-nervous-system-diseases |
|
neurologic |
#15258213 |
| PEO1 |
271245 |
Polyneuropathies |
sensory neuropathy; axonal neuropathy; NCV decreased; loss of myelinated fibers; peripheral responses abnormal; onion bulb formation
|
neurologic |
8133312 8159181 8552218 9027505 9879682 16135556 |
| PEO1 |
607459 |
Polyneuropathies |
absent sural nerve potentials; nerve conduction test
|
neurologic |
15668446 |
| PEO1 |
609286 |
Polyneuropathies |
axonal neuropathy; polyneuropathy
|
neurologic |
15258213 |
| PEO1 |
271245 |
Proprioception-impaired |
|
neurologic |
8133312 9879682 |
| PEO1 |
607459 |
Proprioception-impaired |
vibration and proprioception absent at the great toe
|
neurologic |
15668446 |
| PEO1 |
609286 |
Sleep-disorders |
insomnia
|
neurologic |
1634620 |
| PEO1 |
271245 |
Eye-diseases |
|
ophthalmologic |
#8133312 #8159181 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
607459 |
Eye-diseases |
|
ophthalmologic |
#15668446 |
| PEO1 |
609286 |
Eye-diseases |
|
ophthalmologic |
#1634620 #9153451 #10522883 #12163192 #12707443 #12921794 #15258213 |
| PEO1 |
271245 |
Blepharoptosis |
ptosis
|
ophthalmologic |
8133312 |
| PEO1 |
607459 |
Blepharoptosis |
ptosis; bilateral ptosis
|
ophthalmologic |
15668446 |
| PEO1 |
609286 |
Blepharoptosis |
bilateral ptosis; bilateral; progressive
|
ophthalmologic |
1634620 9153451 10522883 12163192 12707443 12921794 15258213 |
| PEO1 |
271245 |
Ocular-motility-disorders |
horizontal eye movements impaired; vertical eye movements impaired; esophoria; intermittend esophoria; voluntary eye movements restricted; eye movements abnormal
|
ophthalmologic |
8133312 #8159181 #8552218 #9027505 9879682 #16135556 |
| PEO1 |
607459 |
Ocular-motility-disorders |
|
ophthalmologic |
#15668446 |
| PEO1 |
609286 |
Ocular-motility-disorders |
eye movement disorder; limitation of eye movements; eye movements abnormal
|
ophthalmologic |
#1634620 #9153451 10522883 12163192 12707443 12921794 15258213 |
| PEO1 |
271245 |
Ophthalmoplegia |
|
ophthalmologic |
8133312 8159181 8552218 9027505 9879682 16135556 |
| PEO1 |
607459 |
Ophthalmoplegia |
external ophthalmoplegia
|
ophthalmologic |
15668446 |
| PEO1 |
609286 |
Ophthalmoplegia |
external ophthalmoplegia; ophthalmoparesis
|
ophthalmologic |
1634620 9153451 10522883 12163192 12921794 15258213 |
| PEO1 |
271245 |
Strabismus |
|
ophthalmologic |
8133312 |
| PEO1 |
271245 |
Optic-nerve-diseases |
pale optic disk; optic atrophy
|
ophthalmologic |
8133312 8159181 8552218 9027505 9879682 16135556 |
| PEO1 |
271245 |
Myopia |
|
ophthalmologic |
8133312 |
| PEO1 |
271245 |
Vision-disorders |
myopia; hyperopia; visual acuity impaired; VEP abnormal; VEP latencies delayed
|
ophthalmologic |
8133312 |
| PEO1 |
609286 |
Vision-disorders |
blurred vision
|
ophthalmologic |
12163192 #12921794 |
| PEO1 |
609286 |
Diplopia |
double vision; intermittend; occasional double vision
|
ophthalmologic |
12163192 12921794 |
| PEO1 |
271245 |
Genitourinary-diseases |
|
genitourinary |
#8133312 #9879682 |
| PEO1 |
609286 |
Genitourinary-diseases |
|
genitourinary |
#1634620 |
| PEO1 |
271245 |
Urologic-diseases |
|
genitourinary |
#8133312 #9879682 |
| PEO1 |
271245 |
Urination-disorders |
daytime incontinence; micturition; laborious micturition
|
genitourinary |
8133312 9879682 |
| PEO1 |
271245 |
Female-genital-diseases |
|
genitourinary |
#8133312 #9879682 |
| PEO1 |
609286 |
Female-genital-diseases |
|
genitourinary |
#1634620 |
| PEO1 |
271245 |
Ovarian-diseases |
Pathology findings; bilateral ovary hypoplasia; hypoplasia of the ovaries; hypoplasia of the uterus
|
genitourinary |
9879682 |
| PEO1 |
271245 |
Menstruation-disturbances |
amenorrhea
|
genitourinary |
8133312 9879682 |
| PEO1 |
609286 |
Menstruation-disturbances |
amenorrhea
|
genitourinary |
1634620 |
| PEO1 |
607459 |
Cardiovascular-diseases |
|
cardiovascular |
#15668446 |
| PEO1 |
609286 |
Cardiovascular-diseases |
|
cardiovascular |
#1634620 #12163192 #12921794 #15258213 |
| PEO1 |
609286 |
Heart-diseases |
|
cardiovascular |
#1634620 #12163192 #15258213 |
| PEO1 |
609286 |
Arrhythmia |
ventricular fibrillations; arrhythmia; palpitations; right bundle branch block
|
cardiovascular |
1634620 12163192 |
| PEO1 |
609286 |
Cardiomyopathy |
|
cardiovascular |
15258213 |
| PEO1 |
609286 |
Cardiorespiratory-arrest |
|
cardiovascular |
1634620 |
| PEO1 |
607459 |
Vascular-diseases |
|
cardiovascular |
#15668446 |
| PEO1 |
609286 |
Vascular-diseases |
|
cardiovascular |
#12921794 |
| PEO1 |
607459 |
Hypertension |
arterial hypertension
|
cardiovascular |
15668446 |
| PEO1 |
609286 |
Hypertension |
arterial hypertension; mild
|
cardiovascular |
12921794 |
| PEO1 |
271245 |
Skin-diseases |
|
dermatologic |
#8133312 |
| PEO1 |
271245 |
Sweat-gland-diseases |
|
dermatologic |
#8133312 |
| PEO1 |
271245 |
Hyperhidrosis |
perspiration increased
|
dermatologic |
8133312 |
| PEO1 |
607459 |
Metabolic-diseases |
|
metabolic |
#15668446 |
| PEO1 |
609286 |
Metabolic-diseases |
|
metabolic |
#15258213 |
| PEO1 |
607459 |
Glucose-metabolism-disorders |
|
metabolic |
#15668446 |
| PEO1 |
609286 |
Glucose-metabolism-disorders |
|
metabolic |
#15258213 |
| PEO1 |
607459 |
Diabetes-mellitus |
insulin dependent; diabetes in several family members
|
metabolic |
15668446 |
| PEO1 |
609286 |
Diabetes-mellitus |
diabetes in several family members
|
metabolic |
15258213 |
| PEO1 |
271245 |
Endocrine-system-diseases |
|
endocrinologic |
#8133312 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
271245 |
Gonadal-disorders |
|
endocrinologic |
#8133312 #8552218 #9027505 #9879682 #16135556 |
| PEO1 |
271245 |
Hypogonadism |
female primary hypogonadism; female hypogonadism; hypergonadotropic; gonadal failure; estradiol decreased; FSH elevated; LH elevated; female patients
|
endocrinologic |
8552218 9027505 9879682 16135556 |
| PEO1 |
271245 |
Sex-differentiation-disorders |
secondary sexual characteristics poorly developed; female patients affected
|
endocrinologic |
8133312 9879682 |
| PEO1 |
271245 |
Immune-system-diseases |
|
immunologic |
#8133312 #8159181 #9879682 |
| PEO1 |
271245 |
Infections |
infection related onset; viral infections; urinary tract infections; Pathology findings; urinary cystitis
|
immunologic |
8133312 8159181 9879682 |
| PEO1 |
607459 |
Psychiatric-disorders |
|
psychiatric |
#15668446 |
| PEO1 |
609286 |
Psychiatric-disorders |
|
psychiatric |
#1634620 #9153451 |
| PEO1 |
609286 |
Behavioral-symptoms |
avoidant personality; delusions; paranoia
|
psychiatric |
1634620 9153451 |
| PEO1 |
607459 |
Mental-disorders |
|
psychiatric |
#15668446 |
| PEO1 |
609286 |
Mental-disorders |
|
psychiatric |
#1634620 #9153451 |
| PEO1 |
607459 |
Dementia |
signs of dementia; short term memory deficiency; attention deficit; cognitive decline
|
psychiatric |
15668446 |
| PEO1 |
607459 |
Mood-disorders |
emotionally labile
|
psychiatric |
15668446 |
| PEO1 |
609286 |
Mood-disorders |
|
psychiatric |
#1634620 #9153451 |
| PEO1 |
609286 |
Depressive-disorder |
apathy; mutism; negativism; decreased appetite
|
psychiatric |
1634620 9153451 |
| PEO1 |
609286 |
Exercise-intolerance |
fatigue; generalized fatigue
|
miscellaneous |
1634620 12163192 15258213 |
| PEO1 |
271245 |
Dysmorphism-and-abnormalities |
Pathology findings; hypoplasia of both the ovaries and the uterus
|
miscellaneous |
9879682 |
| PEO1 |
607459 |
Mitochondria-abnormal |
Ragged red fibers
|
miscellaneous |
15668446 |
| PEO1 |
609286 |
Mitochondria-abnormal |
Ragged red fibers; inclusion bodies; paracrystalline inclusions
|
miscellaneous |
1634620 9153451 10522883 12163192 12707443 15258213 |
| PEO1 |
609286 |
Creatine-kinase-abnormal |
low (1.96U/L)
|
miscellaneous |
1634620 |
| PEO1 |
609286 |
RCCI-deficiency |
brain; muscle; heart
|
miscellaneous |
1634620 9153451 |
| PEO1 |
609286 |
RCCIII-deficiency |
muscle
|
miscellaneous |
1634620 |
| PEO1 |
609286 |
RCCIV-deficiency |
brain; muscle; heart
|
miscellaneous |
1634620 9153451 |
