| ECGF1 |
603041 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9683610 #14720311 #15742109 #15781193 #16120316 #16198108 #16530527 |
| ECGF1 |
603041 |
Foot-deformities |
pes cavus
|
musculoskeletal |
15742109 15781193 16530527 |
| ECGF1 |
603041 |
Muscular-diseases |
encephalomyopathy; myopathy; lipid droplets
|
musculoskeletal |
9683610 14720311 16120316 16198108 16530527 |
| ECGF1 |
603041 |
Digestive-system-diseases |
|
gastrointestinal |
#9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Digestive-system-abnormalities |
diverticulosis; diverticular perforations; mesenteric abscesses; ileal diverticulae; diverticulae; peritonitis
|
gastrointestinal |
16294144 16498612 16530527 |
| ECGF1 |
603041 |
Gastrointestinal-diseases |
malabsorption; malnutrition; hypovitaminemia; vitamin E deficiency; denutrition; gastrointestinal dysmotility; Crohns disease like; early satiety
|
gastrointestinal |
#9683610 #12177387 14720311 #15607208 15742109 15781193 16120316 #16178026 16198108 16294144 #16498612 16530527 |
| ECGF1 |
603041 |
Deglutition-disorders |
dysphagia; oropharyngeal dysfunction
|
gastrointestinal |
16178026 16198108 16294144 16530527 |
| ECGF1 |
603041 |
Esophageal-varices |
bleeding
|
gastrointestinal |
15607208 |
| ECGF1 |
603041 |
Intestinal-obstruction |
intestinal pseudoobstruction; dysmotility; gastroparesis; peristalsis abnormal; constipation; bowel obstruction; bowel dilatation; ileus; neonatal ileus; gastrointestinal dysmotility; damage of the external muscular layer of the intestinal wall
|
gastrointestinal |
9683610 12177387 15742109 15781193 16120316 16178026 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Liver-diseases |
hepatopathy
|
gastrointestinal |
#15607208 16178026 |
| ECGF1 |
603041 |
Liver-cirrhosis |
esophageal bleeding related to cirrhosis
|
gastrointestinal |
15607208 |
| ECGF1 |
603041 |
Pancreatic-diseases |
|
gastrointestinal |
#16294144 |
| ECGF1 |
603041 |
Pancreatitis |
acute biliary pancreatitis; chronic pancreatitis
|
gastrointestinal |
16294144 |
| ECGF1 |
603041 |
Abdominal-pain |
borborygmi; abdominal cramping; bloating; abdominal distension; distension
|
gastrointestinal |
12177387 14757860 15742109 16178026 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Feeding-difficulties |
food intolerance; anorexia; nervous anorexia
|
gastrointestinal |
12177387 15781193 |
| ECGF1 |
603041 |
Diarrhea |
chronic diarrhea; recurrent diarrhea
|
gastrointestinal |
9683610 12177387 15742109 15781193 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Vomiting |
nausea; recurrent
|
gastrointestinal |
12177387 14757860 16178026 16294144 16498612 |
| ECGF1 |
603041 |
Respiratory-tract-diseases |
|
respiratory |
#16198108 |
| ECGF1 |
603041 |
Respiration-disorders |
|
respiratory |
#16198108 |
| ECGF1 |
603041 |
Respiratory-insufficiency |
|
respiratory |
16198108 |
| ECGF1 |
603041 |
Nervous-system-diseases |
|
neurologic |
#9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Central-nervous-system-diseases |
|
neurologic |
#9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Brain-diseases |
|
neurologic |
#9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Encephalopathy |
encephalomyopathy
|
neurologic |
14720311 15781193 16120316 |
| ECGF1 |
603041 |
Cerebrovascular-disorders |
|
neurologic |
#15742109 |
| ECGF1 |
603041 |
Intracranial-embolism-and-thrombosis |
cerebral thrombosis; venous thrombosis; thrombosis
|
neurologic |
15742109 |
| ECGF1 |
603041 |
Seizures |
epilepsy
|
neurologic |
16530527 |
| ECGF1 |
603041 |
Leukoencephalopathy |
MRI findings; patchy lesions; patchy leukoencephalopathy; diffuse leukoencephalopathy; periventricular; bifrontal; white matter abnormal
|
neurologic |
9683610 12177387 14720311 14757860 15607208 15781193 16120316 16178026 16198108 16294144 16498612 |
| ECGF1 |
603041 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; white matter abnormal; corpus callosum abnormal; brainstem abnormal; bloodÐbrain barrier permeability abnormal
|
neurologic |
12177387 14757860 15742109 16198108 16294144 16530527 |
| ECGF1 |
603041 |
Axonal-degeneration |
|
neurologic |
9683610 14720311 15742109 |
| ECGF1 |
603041 |
Neurologic-manifestations |
|
neurologic |
#9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Ataxia |
gait ataxia; sensory ataxia
|
neurologic |
15742109 16294144 16498612 |
| ECGF1 |
603041 |
Gait-disorders |
gait abnormalities; unsteady gait; unable to walk
|
neurologic |
16198108 16294144 16498612 |
| ECGF1 |
603041 |
Neurobehavioral-manifestations |
|
neurologic |
#14720311 #16178026 |
| ECGF1 |
603041 |
Memory-disorders |
impaired short term memory
|
neurologic |
16178026 |
| ECGF1 |
603041 |
Mental-retardation |
|
neurologic |
14720311 |
| ECGF1 |
603041 |
Neuromuscular-manifestations |
|
neurologic |
#9683610 #12177387 #14757860 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Muscle-weakness |
symmetric; neck; deltoids; flexors; biceps brachii; iliopsoas
|
neurologic |
9683610 12177387 14757860 16178026 16198108 16498612 16530527 |
| ECGF1 |
603041 |
Muscular-atrophy |
muscle wasting; diffuse; neurogenic atrophy; muscularis propria fibrosis; muscularis propria atrophy; atrophic fibers
|
neurologic |
9683610 12177387 16178026 16198108 16294144 16530527 |
| ECGF1 |
603041 |
Electromyography-abnormal |
neurogenic changes; EMG patterns abnormal; demyelinating polyneuropathy signs
|
neurologic |
9683610 16198108 16498612 16530527 |
| ECGF1 |
603041 |
Muscle-aching-and-stiffness |
|
neurologic |
16178026 |
| ECGF1 |
603041 |
Paralysis-Paresis |
proximal paresis; distal paresis; arms and legs paresis; tetraparesis; facial diparesis
|
neurologic |
16198108 16530527 |
| ECGF1 |
603041 |
Reflexes-abnormal |
|
neurologic |
#9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Hyporeflexia |
hypoactive; deep tendon reflexes absent; areflexia
|
neurologic |
9683610 12177387 14720311 14757860 15742109 16178026 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Hearing-disorders |
hearing loss; sensorineural; audiogram abnormal; deaf; deafness; hypoacusia
|
neurologic |
16178026 16198108 16294144 16530527 |
| ECGF1 |
603041 |
Voice-disorders |
weak voice
|
neurologic |
16178026 |
| ECGF1 |
603041 |
Peripheral-nervous-system-diseases |
|
neurologic |
#9683610 #12177387 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Polyneuropathies |
polyneuropathy; sensorimotor neuropathy; demyelinating; burning sensation; allodynia; peripheral neuropathy; paresthesias; hypoesthesia; peripheral neuropathy; neuropathy; stocking glove sensory loss; axonal neuropathy
|
neurologic |
9683610 12177387 14757860 15607208 15742109 15781193 16120316 16178026 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Eye-diseases |
dry eyes
|
ophthalmologic |
#9683610 #12177387 #14720311 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Blepharoptosis |
bilateral ptosis; ptosis
|
ophthalmologic |
9683610 12177387 15042378 15781193 16120316 16178026 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Glaucoma |
glaucomatous changes of the optic disc
|
ophthalmologic |
15042378 |
| ECGF1 |
603041 |
Ocular-motility-disorders |
|
ophthalmologic |
#9683610 #12177387 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Pathologic-nystagmus |
|
ophthalmologic |
15742109 |
| ECGF1 |
603041 |
Ophthalmoplegia |
ophthalmoparesis; external; enophthalmos; Pathology finding; myopathic pattern; ocular muscles abnormal; muscle atrophy; round fibres; fibrosis
|
ophthalmologic |
9683610 12177387 14757860 15042378 15607208 15781193 16120316 16178026 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Optic-nerve-diseases |
glaucomatous like; optic neuropathy
|
ophthalmologic |
15042378 16178026 |
| ECGF1 |
603041 |
Retinal-diseases |
pigmentary retinopathy; hypopigmentation
|
ophthalmologic |
14720311 15042378 |
| ECGF1 |
603041 |
Vision-disorders |
|
ophthalmologic |
#14757860 |
| ECGF1 |
603041 |
Diplopia |
|
ophthalmologic |
14757860 |
| ECGF1 |
603041 |
Genitourinary-diseases |
|
genitourinary |
#12177387 |
| ECGF1 |
603041 |
Female-genital-diseases |
|
genitourinary |
#12177387 |
| ECGF1 |
603041 |
Menstruation-disturbances |
amenorrhea
|
genitourinary |
12177387 |
| ECGF1 |
603041 |
Cardiovascular-diseases |
|
cardiovascular |
#15607208 #16294144 |
| ECGF1 |
603041 |
Heart-diseases |
|
cardiovascular |
#15607208 |
| ECGF1 |
603041 |
Arrhythmia |
EKG abnormal; tachycardia
|
cardiovascular |
15607208 |
| ECGF1 |
603041 |
Cardiorespiratory-arrest |
cardiac failure
|
cardiovascular |
16294144 |
| ECGF1 |
603041 |
Heart-valve-diseases |
mitral valve prolaps; prolaps
|
cardiovascular |
15607208 |
| ECGF1 |
603041 |
Hematologic-diseases |
|
hematologic |
#12177387 #15607208 #15742109 |
| ECGF1 |
603041 |
Anemia |
iron deficiency
|
hematologic |
12177387 |
| ECGF1 |
603041 |
Blood-protein-disorders |
|
hematologic |
#15607208 #15742109 |
| ECGF1 |
603041 |
Hypoalbuminemia |
albumin levels decreased; hypoproteinemia
|
hematologic |
15607208 15742109 |
| ECGF1 |
603041 |
Metabolic-diseases |
|
metabolic |
#14720311 #14757860 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527 |
| ECGF1 |
603041 |
Acid-base-imbalance |
|
metabolic |
#14720311 #14757860 #16198108 #16294144 #16530527 |
| ECGF1 |
603041 |
Acidosis |
lactic acidosis; hyperlacacidemia; lactate elevated
|
metabolic |
14720311 14757860 16198108 16294144 16530527 |
| ECGF1 |
603041 |
Metabolic-brain-diseases |
CSF protein elevated
|
metabolic |
16294144 |
| ECGF1 |
603041 |
Glucose-metabolism-disorders |
|
metabolic |
#15781193 #16178026 #16294144 |
| ECGF1 |
603041 |
Diabetes-mellitus |
insulin dependent
|
metabolic |
15781193 16178026 16294144 |
| ECGF1 |
603041 |
Nucleoside-levels-abnormal |
increased; plasma; urine; deoxyuridine levels elevated; thymidine levels elevated
|
metabolic |
14720311 15781193 16120316 16198108 16498612 16530527 |
| ECGF1 |
603041 |
Psychiatric-disorders |
|
psychiatric |
#16178026 |
| ECGF1 |
603041 |
Behavioral-symptoms |
inappropriate behavior; occasional
|
psychiatric |
16178026 |
| ECGF1 |
603041 |
Cachexia |
thin body habitus; thinness; cachectic
|
miscellaneous |
9683610 14720311 15781193 16120316 16198108 16294144 16498612 16530527 |
| ECGF1 |
603041 |
Growth-disorders |
|
miscellaneous |
#16498612 |
| ECGF1 |
603041 |
Growth-deficiency |
impaired growth
|
miscellaneous |
16498612 |
| ECGF1 |
603041 |
Salivary-gland-diseases |
|
miscellaneous |
#16198108 |
| ECGF1 |
603041 |
Xerostomia |
dry mouth; hyposalivation; hyposialosis
|
miscellaneous |
16198108 |
| ECGF1 |
603041 |
Mitochondria-abnormal |
Ragged red fibers; dystrophic mitochondria; inclusions; lipid accumulations; mitochondria shape abnormal; mitochondria number abnormal; decreased COX staining; COX negative fibers
|
miscellaneous |
9683610 15742109 16120316 16198108 16294144 16530527 |
| ECGF1 |
603041 |
RCCI-deficiency |
muscle
|
miscellaneous |
15781193 |
| ECGF1 |
603041 |
RCCIII-deficiency |
muscle
|
miscellaneous |
15781193 16198108 |
| ECGF1 |
603041 |
RCCIV-deficiency |
muscle
|
miscellaneous |
15781193 16120316 16198108 |
| ECGF1 |
603041 |
RCCV-deficiency |
muscle
|
miscellaneous |
15781193 |
