| ETFA |
231680 |
Musculoskeletal-diseases |
|
musculoskeletal |
#16510302 |
| ETFA |
231680 |
Muscular-diseases |
|
musculoskeletal |
#16510302 |
| ETFA |
231680 |
Rhabdomyolysis |
acute rhabdomyolysis
|
musculoskeletal |
16510302 |
| ETFA |
231680 |
Digestive-system-diseases |
|
gastrointestinal |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Gastrointestinal-diseases |
|
gastrointestinal |
#16510302 |
| ETFA |
231680 |
Gastroenteritis |
cardiac deterioration after gastroenteritis
|
gastrointestinal |
16510302 |
| ETFA |
231680 |
Liver-diseases |
liver dysfunction
|
gastrointestinal |
12486872 #12815589 #16510302 |
| ETFA |
231680 |
Liver-enzymes-abnormal |
transaminases elevated
|
gastrointestinal |
16510302 |
| ETFA |
231680 |
Hepatomegaly |
neonatal hepatomegaly
|
gastrointestinal |
12815589 16510302 |
| ETFA |
231680 |
Diarrhea |
|
gastrointestinal |
12486872 |
| ETFA |
231680 |
Vomiting |
recurrent; nausea
|
gastrointestinal |
12486872 12815589 |
| ETFA |
231680 |
Nervous-system-diseases |
|
neurologic |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Central-nervous-system-diseases |
|
neurologic |
#12486872 #16510302 |
| ETFA |
231680 |
Brain-diseases |
|
neurologic |
#12486872 #16510302 |
| ETFA |
231680 |
Seizures |
convulsions
|
neurologic |
12486872 16510302 |
| ETFA |
231680 |
Movement-disorders |
|
neurologic |
#16510302 |
| ETFA |
231680 |
Dystonic-disorders |
dystonia
|
neurologic |
16510302 |
| ETFA |
231680 |
Neurologic-manifestations |
|
neurologic |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Neurobehavioral-manifestations |
|
neurologic |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Consciousness-disorders |
hypoglycemic; coma; metabolic coma; fasting related coma
|
neurologic |
12486872 16510302 |
| ETFA |
231680 |
Developmental-delay |
psychomotor delay
|
neurologic |
16510302 |
| ETFA |
231680 |
Lethargy |
drowsiness
|
neurologic |
12815589 16510302 |
| ETFA |
231680 |
Neuromuscular-manifestations |
|
neurologic |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Fasciculations |
face; twitchings; muscle twitching
|
neurologic |
12815589 |
| ETFA |
231680 |
Muscle-hypotonia |
muscular hypotonia; severe
|
neurologic |
12486872 12815589 16510302 |
| ETFA |
231680 |
Muscle-weakness |
|
neurologic |
12815589 |
| ETFA |
231680 |
Eye-diseases |
|
ophthalmologic |
#12815589 |
| ETFA |
231680 |
Ocular-motility-disorders |
|
ophthalmologic |
#12815589 |
| ETFA |
231680 |
Pathologic-nystagmus |
|
ophthalmologic |
12815589 |
| ETFA |
231680 |
Genitourinary-diseases |
|
genitourinary |
#7912128 #16510302 |
| ETFA |
231680 |
Urologic-diseases |
|
genitourinary |
#7912128 #16510302 |
| ETFA |
231680 |
Kidney-diseases |
|
genitourinary |
#7912128 #16510302 |
| ETFA |
231680 |
Cystic-kidney-diseases |
polycystic kidneys; renal cortical cysts; enlarged kidneys
|
genitourinary |
7912128 16510302 |
| ETFA |
231680 |
Cardiovascular-diseases |
|
cardiovascular |
#12486872 #12815589 #16510302 |
| ETFA |
231680 |
Heart-diseases |
|
cardiovascular |
#16510302 |
| ETFA |
231680 |
Cardiomyopathy |
hypertrophic myocardiopathy; myocardiopathy
|
cardiovascular |
16510302 |
| ETFA |
231680 |
Cardiorespiratory-arrest |
infant death; cardiac arrest; sudden infant death
|
cardiovascular |
12486872 12815589 16510302 |
| ETFA |
231680 |
Vascular-diseases |
|
cardiovascular |
#16510302 |
| ETFA |
231680 |
Myocardial-ischemia |
cardiac ischemia; cardiac decompensation
|
cardiovascular |
16510302 |
| ETFA |
231680 |
Hematologic-diseases |
|
hematologic |
#12815589 |
| ETFA |
231680 |
Anemia |
extreme anemia
|
hematologic |
12815589 |
| ETFA |
231680 |
Metabolic-diseases |
|
metabolic |
#1430199 #7912128 #12486872 #12815589 #16510302 |
| ETFA |
231680 |
Acid-base-imbalance |
|
metabolic |
#1430199 #7912128 #12815589 #16510302 |
| ETFA |
231680 |
Acidosis |
lactic acidosis; metabolic acidosis
|
metabolic |
1430199 7912128 12815589 16510302 |
| ETFA |
231680 |
Metabolic-brain-diseases |
|
metabolic |
#12486872 |
| ETFA |
231680 |
Reye-like-symptoms |
reye syndrome like
|
metabolic |
12486872 |
| ETFA |
231680 |
Glucose-metabolism-disorders |
|
metabolic |
#1430199 #7912128 #12486872 #12815589 #16510302 |
| ETFA |
231680 |
Hypoglycemia |
hypoketotic hypoglycemia
|
metabolic |
1430199 7912128 12486872 12815589 16510302 |
| ETFA |
231680 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
1430199 12486872 12815589 16510302 |
| ETFA |
231680 |
Acylcarnitine-profile-abnormal |
elevated C4 acylcarnitine; elevated C5 acylcarnitine; elevated C6 acylcarntine; elevated C14:1 acylcarnitine; elevated C16:0 acylcarnitine; elevated long chain acylcarnitines
|
metabolic |
1430199 16510302 |
| ETFA |
231680 |
Acylglycine-profile-abnormal |
acylglycinuria; isovalerylglycinuria
|
metabolic |
7912128 |
| ETFA |
231680 |
Fatty-acids-abnormal |
myristate oxidation abnormal; palmitate oxidation abnormal; fibroblasts
|
metabolic |
12815589 |
| ETFA |
231680 |
Organic-acids-abnormal |
ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria
|
metabolic |
1430199 12486872 12815589 16510302 |
| ETFA |
231680 |
Dicarboxylic-aciduria |
|
metabolic |
16510302 |
| ETFA |
231680 |
Ethylmalonic-aciduria |
ethylmalonic acid elevated
|
metabolic |
1430199 12486872 12815589 |
| ETFA |
231680 |
Glutaric-aciduria |
glutaric acid elevated; glutaric acidemia
|
metabolic |
1430199 12486872 12815589 |
| ETFA |
231680 |
Body-temperature-changes |
|
miscellaneous |
#12815589 |
| ETFA |
231680 |
Fever |
fever triggered; disease onset
|
miscellaneous |
12815589 |
| ETFA |
231680 |
Vitamin-responsive |
riboflavin; vitamin B2; response variable
|
miscellaneous |
3930843 12486872 15669683 |
