| BCS1L |
124000 |
Musculoskeletal-diseases |
|
musculoskeletal |
#11528392 |
| BCS1L |
603358 |
Musculoskeletal-diseases |
|
musculoskeletal |
#7577396 |
| BCS1L |
124000 |
Muscular-diseases |
|
musculoskeletal |
#11528392 |
| BCS1L |
124000 |
Myoglobinuria |
|
musculoskeletal |
11528392 |
| BCS1L |
124000 |
Craniofacial-abnormalities |
|
musculoskeletal |
#11528392 |
| BCS1L |
603358 |
Craniofacial-abnormalities |
|
musculoskeletal |
#7577396 |
| BCS1L |
124000 |
Microcephaly |
|
musculoskeletal |
11528392 |
| BCS1L |
603358 |
Microcephaly |
|
musculoskeletal |
7577396 |
| BCS1L |
124000 |
Digestive-system-diseases |
|
gastrointestinal |
#11528392 #12910490 |
| BCS1L |
603358 |
Digestive-system-diseases |
|
gastrointestinal |
#7577396 #9482441 #12027811 #12215968 |
| BCS1L |
124000 |
Biliary-tract-diseases |
|
gastrointestinal |
#11528392 #12910490 |
| BCS1L |
603358 |
Biliary-tract-diseases |
|
gastrointestinal |
#9482441 #12027811 #12215968 |
| BCS1L |
124000 |
Cholestasis |
intrahepatic cholestasis; canalicular cholestasis
|
gastrointestinal |
11528392 12910490 |
| BCS1L |
603358 |
Cholestasis |
intrahepatic
|
gastrointestinal |
9482441 12027811 12215968 |
| BCS1L |
124000 |
Cholangitis |
cholangiolitis; proliferation with cholangiolitis
|
gastrointestinal |
12910490 |
| BCS1L |
124000 |
Gastrointestinal-diseases |
meconium abnormal; green in a white envelope
|
gastrointestinal |
#11528392 12910490 |
| BCS1L |
603358 |
Gastrointestinal-diseases |
|
gastrointestinal |
#7577396 |
| BCS1L |
124000 |
Gastroenteritis |
viral
|
gastrointestinal |
12910490 |
| BCS1L |
603358 |
Gastroenteritis |
hemorrhagic enteritis
|
gastrointestinal |
7577396 |
| BCS1L |
124000 |
Gastrointestinal-hemorrhage |
gastric hemorrhage; hemorrhagic lesions
|
gastrointestinal |
11528392 12910490 |
| BCS1L |
124000 |
Liver-diseases |
hepatic failure; hepatic coma; liver dysfunction
|
gastrointestinal |
11528392 12910490 |
| BCS1L |
603358 |
Liver-diseases |
hepatic failure; hepatic coma; hepatic dysfunction; sinusoidal Kupffer cells; paucity of intrahepatic small bileducts
|
gastrointestinal |
7577396 9482441 |
| BCS1L |
124000 |
Fatty-liver |
steatosis; fibrosis; microvesicular fat droplets; periportal necrosis
|
gastrointestinal |
12910490 |
| BCS1L |
603358 |
Fatty-liver |
steatosis; fibrosis; inflammation; portal inflammatory cells; bile ductular proliferation
|
gastrointestinal |
7577396 9482441 |
| BCS1L |
603358 |
Liver-cirrhosis |
progressive; cirrhosis
|
gastrointestinal |
9482441 |
| BCS1L |
124000 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated; GGT elevated
|
gastrointestinal |
11528392 12910490 |
| BCS1L |
603358 |
Liver-enzymes-abnormal |
transaminases abnormal; elevated transaminases; ALT elevated; AST elevated
|
gastrointestinal |
7577396 |
| BCS1L |
124000 |
Feeding-difficulties |
|
gastrointestinal |
11528392 |
| BCS1L |
124000 |
Vomiting |
|
gastrointestinal |
11528392 |
| BCS1L |
124000 |
Respiratory-tract-diseases |
|
respiratory |
#11528392 |
| BCS1L |
603358 |
Respiratory-tract-diseases |
|
respiratory |
#7577396 |
| BCS1L |
603358 |
Lung-diseases |
|
respiratory |
#7577396 |
| BCS1L |
603358 |
Pulmonary-hemorrhage |
pulmonary haemorrhage
|
respiratory |
7577396 |
| BCS1L |
124000 |
Respiration-disorders |
episodes of apnea; apnea
|
respiratory |
11528392 |
| BCS1L |
603358 |
Respiration-disorders |
episodes of apnea; apnea; dyspnea
|
respiratory |
7577396 |
| BCS1L |
603358 |
Hyperventilation |
hyperpnea
|
respiratory |
7577396 |
| BCS1L |
124000 |
Nervous-system-diseases |
|
neurologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Nervous-system-diseases |
|
neurologic |
#7577396 #12215968 |
| BCS1L |
124000 |
Central-nervous-system-diseases |
|
neurologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Central-nervous-system-diseases |
|
neurologic |
#7577396 #12215968 |
| BCS1L |
124000 |
Brain-diseases |
|
neurologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Brain-diseases |
|
neurologic |
#7577396 #12215968 |
| BCS1L |
124000 |
Encephalopathy |
encephalomyelopathy; Leigh like
|
neurologic |
11528392 12910490 |
| BCS1L |
603358 |
Cerebrovascular-disorders |
|
neurologic |
#7577396 |
| BCS1L |
603358 |
Intracranial-hemorrhages |
intracranial haemorrhage
|
neurologic |
7577396 |
| BCS1L |
603358 |
Seizures |
|
neurologic |
7577396 12215968 |
| BCS1L |
124000 |
Leukoencephalopathy |
leukodystrophy
|
neurologic |
11528392 |
| BCS1L |
124000 |
Cerebellar-atrophy |
cerebellar atrophy
|
neurologic |
12910490 |
| BCS1L |
124000 |
Cerebral-atrophy |
MRI findings; considerable atrophy; cerebral atrophy
|
neurologic |
11528392 |
| BCS1L |
124000 |
Cerebral-necrosis |
white matter necrosis; cortex necrosis; Leigh like
|
neurologic |
11528392 12910490 |
| BCS1L |
603358 |
Cerebral-necrosis |
white matter abnormal; vermis abnormal; cerebellum abnormal; cerebral necrosis
|
neurologic |
7577396 |
| BCS1L |
603358 |
Movement-disorders |
|
neurologic |
#7577396 |
| BCS1L |
603358 |
Dystonic-disorders |
dystonic; involuntary movements
|
neurologic |
7577396 |
| BCS1L |
124000 |
Spinal-cord-diseases |
encephalomyelopathy; myelopathy; Leigh like
|
neurologic |
11528392 |
| BCS1L |
124000 |
Neuronal-loss-and-lesions |
MRI findings; bilateral symmetric; brainstem abnormal; basal ganglia abnormal; lesions; myelination abnormal; necrosis; spongiosis; capillary proliferation; Leigh like
|
neurologic |
12910490 |
| BCS1L |
603358 |
Neuronal-loss-and-lesions |
Pathology findings; dentate abnormal; olivary nuclei abnormal
|
neurologic |
7577396 |
| BCS1L |
124000 |
Neurologic-manifestations |
|
neurologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Neurologic-manifestations |
|
neurologic |
#7577396 #12215968 |
| BCS1L |
124000 |
Neurobehavioral-manifestations |
|
neurologic |
#11528392 |
| BCS1L |
124000 |
Mental-retardation |
|
neurologic |
11528392 |
| BCS1L |
124000 |
Developmental-delay |
psychomotor retardation; multisystemic involvement
|
neurologic |
11528392 12910490 |
| BCS1L |
603358 |
Developmental-delay |
psychomotor retardation; severe
|
neurologic |
7577396 |
| BCS1L |
124000 |
Neuromuscular-manifestations |
|
neurologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Neuromuscular-manifestations |
|
neurologic |
#7577396 #12215968 |
| BCS1L |
124000 |
Muscle-hypotonia |
axial hypotonia
|
neurologic |
11528392 12910490 |
| BCS1L |
603358 |
Muscle-hypotonia |
|
neurologic |
7577396 12215968 |
| BCS1L |
124000 |
Reflexes-abnormal |
|
neurologic |
#11528392 |
| BCS1L |
124000 |
Hyperreflexia |
brisk; deep tendon reflexes abnormal
|
neurologic |
11528392 |
| BCS1L |
124000 |
Hearing-disorders |
hearing loss; sensorineural
|
neurologic |
11528392 |
| BCS1L |
124000 |
Eye-diseases |
|
ophthalmologic |
#11528392 #12910490 |
| BCS1L |
124000 |
Blepharoptosis |
ptosis
|
ophthalmologic |
12910490 |
| BCS1L |
124000 |
Vision-disorders |
blindness
|
ophthalmologic |
11528392 |
| BCS1L |
124000 |
Genitourinary-diseases |
|
genitourinary |
#11528392 #12910490 |
| BCS1L |
603358 |
Genitourinary-diseases |
|
genitourinary |
#7577396 #9482441 #12215968 |
| BCS1L |
124000 |
Urologic-diseases |
|
genitourinary |
#11528392 #12910490 |
| BCS1L |
603358 |
Urologic-diseases |
|
genitourinary |
#7577396 #9482441 #12215968 |
| BCS1L |
124000 |
Kidney-diseases |
|
genitourinary |
#11528392 #12910490 |
| BCS1L |
603358 |
Kidney-diseases |
|
genitourinary |
#7577396 #9482441 #12215968 |
| BCS1L |
603358 |
Cystic-kidney-diseases |
Pathology findings; multicystic kidneys
|
genitourinary |
7577396 |
| BCS1L |
124000 |
Nephritis |
tubulointerstitial nephritis
|
genitourinary |
11528392 |
| BCS1L |
603358 |
Nephrocalcinosis |
calcium containing concrements; renal medullae
|
genitourinary |
9482441 |
| BCS1L |
124000 |
Renal-insufficiency |
proximal tubulopathy; De Toni Fanconi Debre syndrome; renal tubulopathy
|
genitourinary |
11528392 12910490 |
| BCS1L |
603358 |
Renal-insufficiency |
renal tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; bicarbonate loss
|
genitourinary |
7577396 9482441 12215968 |
| BCS1L |
603358 |
Creatinine-levels-abnormal |
|
genitourinary |
7577396 |
| BCS1L |
603358 |
Cardiovascular-diseases |
|
cardiovascular |
#12027811 #12215968 |
| BCS1L |
603358 |
Cardiorespiratory-arrest |
early death
|
cardiovascular |
12027811 12215968 |
| BCS1L |
124000 |
Hematologic-diseases |
|
hematologic |
#11528392 #12910490 |
| BCS1L |
603358 |
Hematologic-diseases |
|
hematologic |
#9482441 |
| BCS1L |
124000 |
Blood-coagulation-disorders |
coagulation dysfunction
|
hematologic |
12910490 |
| BCS1L |
124000 |
Blood-protein-disorders |
hypoproteinemia
|
hematologic |
11528392 12910490 |
| BCS1L |
603358 |
Blood-protein-disorders |
serum haptoglobin levels decreased
|
hematologic |
9482441 |
| BCS1L |
124000 |
Metabolic-diseases |
|
metabolic |
#11528392 #12910490 |
| BCS1L |
603358 |
Metabolic-diseases |
|
metabolic |
#7577396 #9482441 #12027811 #12215968 |
| BCS1L |
124000 |
Acid-base-imbalance |
|
metabolic |
#11528392 #12910490 |
| BCS1L |
603358 |
Acid-base-imbalance |
|
metabolic |
#7577396 #9482441 #12027811 #12215968 |
| BCS1L |
124000 |
Acidosis |
lactic acidosis; ketosis; hyperlactatemia
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Acidosis |
lactic acidosis; metabolic acidosis
|
metabolic |
7577396 9482441 12027811 12215968 |
| BCS1L |
124000 |
Ketosis |
ketosis; elevated 3 0H butyrate; acetone in urine
|
metabolic |
12910490 |
| BCS1L |
603358 |
Ketosis |
hydroxybutyrate elevated; acetoacetate elevated
|
metabolic |
9482441 |
| BCS1L |
124000 |
Glucose-metabolism-disorders |
|
metabolic |
#11528392 #12910490 |
| BCS1L |
603358 |
Glucose-metabolism-disorders |
|
metabolic |
#7577396 #9482441 |
| BCS1L |
124000 |
Glycosuria |
De Toni Fanconi Debre syndrome; glucose increase in urine
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Glycosuria |
|
metabolic |
7577396 9482441 |
| BCS1L |
124000 |
Hypoglycemia |
De Toni Fanconi Debre syndrome
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Hypoglycemia |
hypoglycaemic
|
metabolic |
7577396 9482441 |
| BCS1L |
603358 |
Hyperbilirubinemia |
|
metabolic |
7577396 9482441 |
| BCS1L |
124000 |
Hemochromatosis |
hemosiderosis; liver; hepatosiderosis; aggregates of macrophages; Kupffer cells
|
metabolic |
12910490 |
| BCS1L |
603358 |
Hemochromatosis |
iron overload; hemosiderosis; liver; transferrin abnormal
|
metabolic |
9482441 12027811 12215968 |
| BCS1L |
124000 |
Aminoacid-levels-abnormal |
elevated tyrosine; elevated alanine; hypoaminoacidemia; De Toni Fanconi Debre syndrome
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Aminoacid-levels-abnormal |
hypoaminoacidemia; De Toni Fanconi Debre syndrome; alanine elevated
|
metabolic |
7577396 9482441 |
| BCS1L |
124000 |
Aminoaciduria |
De Toni Fanconi Debre syndrome
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Aminoaciduria |
nonspecific aminoaciduria
|
metabolic |
7577396 9482441 12027811 12215968 |
| BCS1L |
124000 |
Phosphorus-metabolism-disorders |
|
metabolic |
#12910490 |
| BCS1L |
603358 |
Phosphorus-metabolism-disorders |
|
metabolic |
#7577396 #9482441 |
| BCS1L |
124000 |
Hypophosphatemia |
De Toni Fanconi Debre syndrome
|
metabolic |
12910490 |
| BCS1L |
603358 |
Hypophosphatemia |
|
metabolic |
7577396 9482441 |
| BCS1L |
124000 |
Water-electrolyte-imbalance |
|
metabolic |
#12910490 |
| BCS1L |
603358 |
Water-electrolyte-imbalance |
|
metabolic |
#7577396 #9482441 |
| BCS1L |
124000 |
Dehydration |
De Toni Fanconi Debre syndrome
|
metabolic |
12910490 |
| BCS1L |
124000 |
Hypokalemia |
De Toni Fanconi Debre syndrome; potassium levels decreased
|
metabolic |
12910490 |
| BCS1L |
603358 |
Hypokalemia |
potassium levels decreased
|
metabolic |
7577396 9482441 |
| BCS1L |
124000 |
Hyponatremia |
De Toni Fanconi Debre syndrome
|
metabolic |
12910490 |
| BCS1L |
603358 |
Hyponatremia |
De Toni Fanconi Debre syndrome
|
metabolic |
7577396 |
| BCS1L |
603358 |
Carnitine-levels-abnormal |
De Toni Fanconi Debre syndrome; serum free carnitine concentration decreased
|
metabolic |
9482441 |
| BCS1L |
124000 |
Creatine-levels-abnormal |
|
metabolic |
11528392 |
| BCS1L |
124000 |
Organic-acids-abnormal |
lactic aciduria; glyceroluria; elevated tricarboxylic acid cycle intermediates; fumaric aciduria; acetone elevated
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Organic-acids-abnormal |
lactic aciduria; increased excretion of lactate; increased excretion of hydroxyphenyl lactate; increased excretion of pyruvate; elevated tricarboxylic acid cycle intermediates
|
metabolic |
7577396 9482441 12027811 |
| BCS1L |
124000 |
Hyperglycerolemia |
glyceroluria
|
metabolic |
12910490 |
| BCS1L |
124000 |
TCA-intermediates-elevated |
accumulation of krebs cycle intermediates in urine
|
metabolic |
11528392 12910490 |
| BCS1L |
603358 |
Immune-system-diseases |
|
immunologic |
#7577396 |
| BCS1L |
603358 |
Infections |
bacterial infections; sepsis
|
immunologic |
7577396 |
| BCS1L |
124000 |
Growth-disorders |
|
miscellaneous |
#12910490 |
| BCS1L |
603358 |
Growth-disorders |
|
miscellaneous |
#7577396 #9482441 #12027811 #12215968 |
| BCS1L |
124000 |
Failure-to-thrive |
severe
|
miscellaneous |
12910490 |
| BCS1L |
603358 |
Growth-deficiency |
intrauterine growth retardation; fetal growth retardation
|
miscellaneous |
7577396 9482441 12027811 12215968 |
| BCS1L |
124000 |
Mitochondria-abnormal |
enlarged; cristae abnormal; christae reduced; fluffy matrix; inclusions
|
miscellaneous |
12910490 |
| BCS1L |
124000 |
Alkaline-phosphatase-abnormal |
elevated
|
miscellaneous |
12910490 |
| BCS1L |
603358 |
Ceruloplasmin-levels-abnormal |
decreased; serum; caeruloplasmin decreased
|
miscellaneous |
9482441 |
| BCS1L |
124000 |
Creatine-kinase-abnormal |
increase in creatine kinase
|
miscellaneous |
11528392 |
| BCS1L |
124000 |
RCCIII-deficiency |
liver; muscle
|
miscellaneous |
11528392 12910490 |
| BCS1L |
603358 |
RCCIII-deficiency |
muscle; variable
|
miscellaneous |
7577396 |
