| DGUOK |
251880 |
Musculoskeletal-diseases |
|
musculoskeletal |
#15883261 #16263314 |
| DGUOK |
251880 |
Craniofacial-abnormalities |
|
musculoskeletal |
#15883261 #16263314 |
| DGUOK |
251880 |
Microcephaly |
|
musculoskeletal |
15883261 16263314 |
| DGUOK |
251880 |
Digestive-system-diseases |
|
gastrointestinal |
#11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Biliary-tract-diseases |
|
gastrointestinal |
#12205643 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Cholestasis |
bile duct abnormal; proliferation; hypoplasia
|
gastrointestinal |
12205643 15639197 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
Gastrointestinal-diseases |
stool frequency abnormal; increased
|
gastrointestinal |
#12205643 15883261 #15964659 #16263314 |
| DGUOK |
251880 |
Gastrointestinal-hemorrhage |
melena
|
gastrointestinal |
#12205643 15964659 16263314 |
| DGUOK |
251880 |
Hematemesis |
severe
|
gastrointestinal |
12205643 15964659 |
| DGUOK |
251880 |
Liver-diseases |
hepatic failure; pseudoacinar transformation of hepatocytes; focal ground glass appearance; portal hypertension; hepatocellular insufficiency; glycogen depletion; cytolysis
|
gastrointestinal |
11687800 12205643 12210798 15639197 15883261 15887277 #15964659 16263314 |
| DGUOK |
251880 |
Fatty-liver |
steatosis; fibrosis; microvesicular steatosis; macrovesicular steatosis; hepatocyte swelling; inflammation
|
gastrointestinal |
12205643 12210798 15887277 15964659 |
| DGUOK |
251880 |
Hepatitis |
neonatal; giant cell
|
gastrointestinal |
12210798 |
| DGUOK |
251880 |
Liver-cirrhosis |
micronodular; regenerative nodules
|
gastrointestinal |
12205643 15883261 15964659 |
| DGUOK |
251880 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated; GGT elevated
|
gastrointestinal |
12205643 15883261 15887277 15964659 |
| DGUOK |
251880 |
Hepatomegaly |
ascites
|
gastrointestinal |
12205643 12210798 15639197 15883261 15887277 15964659 |
| DGUOK |
251880 |
Feeding-difficulties |
|
gastrointestinal |
12205643 15639197 15883261 15964659 |
| DGUOK |
251880 |
Vomiting |
|
gastrointestinal |
12205643 15639197 15883261 |
| DGUOK |
251880 |
Respiratory-tract-diseases |
|
respiratory |
#15639197 #15883261 #15964659 #16263314 |
| DGUOK |
251880 |
Lung-diseases |
|
respiratory |
#15883261 #16263314 |
| DGUOK |
251880 |
Pulmonary-edema |
pulmonary hypertension and edema; pulmonary arterial hypertension
|
respiratory |
15883261 16263314 |
| DGUOK |
251880 |
Respiration-disorders |
respiratory distress
|
respiratory |
#15639197 15964659 |
| DGUOK |
251880 |
Hyperventilation |
tachypnea
|
respiratory |
15639197 |
| DGUOK |
251880 |
Nervous-system-diseases |
|
neurologic |
#11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Central-nervous-system-diseases |
|
neurologic |
#11687800 #12205643 #12210798 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Brain-diseases |
|
neurologic |
#11687800 #12205643 #12210798 #15883261 #15964659 #16263314 |
| DGUOK |
251880 |
Encephalopathy |
severe; neurological abnormalities; hepatocerebral MDS
|
neurologic |
11687800 12210798 15883261 16263314 |
| DGUOK |
251880 |
Seizures |
|
neurologic |
12205643 15964659 |
| DGUOK |
251880 |
Cerebral-atrophy |
enlarged external cerebrospinal fluid spaces; cerebral atrophy
|
neurologic |
15883261 |
| DGUOK |
251880 |
Electroencephalogram-abnormal |
positive rolandic sharp waves
|
neurologic |
15883261 |
| DGUOK |
251880 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; white matter abnormal; diffuse
|
neurologic |
15887277 |
| DGUOK |
251880 |
Neurologic-manifestations |
|
neurologic |
#12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Neurobehavioral-manifestations |
|
neurologic |
#12210798 #15883261 |
| DGUOK |
251880 |
Developmental-delay |
psychomotor retardation; generalized; motor development abnormal
|
neurologic |
12205643 15887277 15964659 16263314 |
| DGUOK |
251880 |
Irritability |
|
neurologic |
12210798 |
| DGUOK |
251880 |
Lethargy |
lethargic; poor sucking
|
neurologic |
15883261 |
| DGUOK |
251880 |
Neuromuscular-manifestations |
|
neurologic |
#12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Muscle-hypotonia |
|
neurologic |
12205643 12210798 15639197 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
Muscle-weakness |
|
neurologic |
12210798 |
| DGUOK |
251880 |
Muscular-atrophy |
muscle wasting; dystrophy; amyotrophia
|
neurologic |
15639197 15964659 |
| DGUOK |
251880 |
Reflexes-abnormal |
|
neurologic |
#12210798 #15964659 |
| DGUOK |
251880 |
Hyperreflexia |
|
neurologic |
12210798 15964659 |
| DGUOK |
251880 |
Pyramidal-tract-signs |
|
neurologic |
15964659 |
| DGUOK |
251880 |
Eye-diseases |
|
ophthalmologic |
#11687800 #12205643 #12210798 #15639197 #15883261 #15964659 |
| DGUOK |
251880 |
Ocular-motility-disorders |
disconjugate eye movements; roving eye movements; eye movements abnormal
|
ophthalmologic |
#11687800 #12205643 #12210798 #15639197 15883261 #15964659 |
| DGUOK |
251880 |
Pathologic-nystagmus |
oscillating eye movements; pendular nystagmus
|
ophthalmologic |
11687800 12205643 12210798 15639197 15883261 15964659 |
| DGUOK |
251880 |
Retinal-diseases |
immature retina
|
ophthalmologic |
15883261 |
| DGUOK |
251880 |
Vision-disorders |
optic dysplasia; mild optic dysplasia
|
ophthalmologic |
15883261 |
| DGUOK |
251880 |
Genitourinary-diseases |
|
genitourinary |
#15964659 |
| DGUOK |
251880 |
Urologic-diseases |
|
genitourinary |
#15964659 |
| DGUOK |
251880 |
Kidney-diseases |
|
genitourinary |
#15964659 |
| DGUOK |
251880 |
Renal-insufficiency |
tubulopathy; hypercalciuria
|
genitourinary |
15964659 |
| DGUOK |
251880 |
Cardiovascular-diseases |
|
cardiovascular |
#11687800 #15883261 #15964659 #16263314 |
| DGUOK |
251880 |
Heart-diseases |
|
cardiovascular |
#15964659 |
| DGUOK |
251880 |
Cardiomyopathy |
cardiomegaly
|
cardiovascular |
15964659 |
| DGUOK |
251880 |
Cardiorespiratory-arrest |
infant death
|
cardiovascular |
11687800 15883261 16263314 |
| DGUOK |
251880 |
Hematologic-diseases |
|
hematologic |
#12205643 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Anemia |
|
hematologic |
16263314 |
| DGUOK |
251880 |
Blood-coagulation-disorders |
partial thromboplastin time prolonged; prothrombin time prolonged; portal thrombosis
|
hematologic |
12205643 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
Blood-platelet-disorders |
|
hematologic |
#15883261 |
| DGUOK |
251880 |
Thrombocytopenia |
intermittend
|
hematologic |
15883261 |
| DGUOK |
251880 |
Blood-protein-disorders |
|
hematologic |
#12205643 #15883261 #15964659 |
| DGUOK |
251880 |
Hypoalbuminemia |
albumin levels decreased
|
hematologic |
12205643 15883261 15964659 |
| DGUOK |
251880 |
Metabolic-diseases |
|
metabolic |
#11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Acid-base-imbalance |
|
metabolic |
#11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #16263314 |
| DGUOK |
251880 |
Acidosis |
lactic acidosis; blood; CSF; MRS lactate peak
|
metabolic |
11687800 12205643 12210798 15639197 15883261 15887277 16263314 |
| DGUOK |
251880 |
Glucose-metabolism-disorders |
|
metabolic |
#11687800 #12205643 #12210798 #15883261 #15887277 #15964659 #16263314 |
| DGUOK |
251880 |
Hypoglycemia |
|
metabolic |
11687800 12205643 12210798 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
15639197 15883261 15964659 |
| DGUOK |
251880 |
Hyperbilirubinemia |
icterus; jaundice; urinary bilirubin
|
metabolic |
12205643 12210798 15639197 15883261 15887277 15964659 |
| DGUOK |
251880 |
Hemochromatosis |
liver; hepatosiderosis; iron accumulation; Kuppfer cells; hepatocytes iron overload; neonatal hemochromatosis
|
metabolic |
15964659 |
| DGUOK |
251880 |
Aminoaciduria |
generalized amino aciduria
|
metabolic |
15883261 |
| DGUOK |
251880 |
Water-electrolyte-imbalance |
|
metabolic |
#12205643 |
| DGUOK |
251880 |
Dehydration |
renal tubular fluid loss
|
metabolic |
12205643 |
| DGUOK |
251880 |
Hyperferricemia |
|
metabolic |
15964659 |
| DGUOK |
251880 |
Organic-acids-abnormal |
lactic aciduria; dicarboxylic aciduria
|
metabolic |
12205643 15883261 #15887277 16263314 |
| DGUOK |
251880 |
Cystathioninuria |
|
metabolic |
15887277 |
| DGUOK |
251880 |
Dicarboxylic-aciduria |
dicarboxylic acids elevated; multiple dicarboxylic acids elevated
|
metabolic |
12205643 15883261 |
| DGUOK |
251880 |
Immune-system-diseases |
|
immunologic |
#15883261 #16263314 |
| DGUOK |
251880 |
Infections |
respiratory tract infections; meningitides
|
immunologic |
15883261 16263314 |
| DGUOK |
251880 |
Body-temperature-changes |
|
miscellaneous |
#15883261 |
| DGUOK |
251880 |
Hypothermia |
|
miscellaneous |
15883261 |
| DGUOK |
251880 |
Splenomegaly |
hypersplenism
|
miscellaneous |
12205643 15883261 |
| DGUOK |
251880 |
Growth-disorders |
|
miscellaneous |
#11687800 #15639197 #15883261 #15964659 #16263314 |
| DGUOK |
251880 |
Failure-to-thrive |
|
miscellaneous |
11687800 15639197 15883261 15964659 |
| DGUOK |
251880 |
Growth-deficiency |
growth retardation; intrauterine
|
miscellaneous |
16263314 |
| DGUOK |
251880 |
Mitochondria-abnormal |
liver; muscle; subsarcolemmal aggregates of mitochondria; mitochondrial christae abnormal; heterogenous matrix
|
miscellaneous |
12210798 15883261 15887277 15964659 |
| DGUOK |
251880 |
Alpha-fetoprotein-abnormal |
elevated; plasma
|
miscellaneous |
11687800 12205643 |
| DGUOK |
251880 |
Creatine-kinase-abnormal |
|
miscellaneous |
15964659 |
| DGUOK |
251880 |
RCCI-deficiency |
liver; muscle; heart; brain
|
miscellaneous |
11687800 12205643 15639197 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
RCCIII-deficiency |
liver; muscle; heart; brain
|
miscellaneous |
11687800 12205643 15639197 15964659 16263314 |
| DGUOK |
251880 |
RCCIV-deficiency |
liver; muscle; heart; brain
|
miscellaneous |
11687800 12205643 12210798 15639197 15883261 15887277 15964659 16263314 |
| DGUOK |
251880 |
RCCV-deficiency |
liver; muscle
|
miscellaneous |
15639197 16263314 |
