Monarch Ortholog Phenotypes
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Human (51 sources):
Abnormal circulating cholesterol concentration,
Abnormal dentate nucleus morphology,
Abnormal periventricular white matter morphology,
Abnormal pyramidal sign,
Abnormality of extrapyramidal motor function,
Abnormality of the orbital region,
Abnormality of vision,
Angina pectoris,
Ataxia,
Atherosclerosis,
Behavioral abnormality,
Cataract,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral calcification,
Cholelithiasis,
Cholestasis,
Delayed somatosensory central conduction time,
Delusions,
Dementia,
Depression,
Developmental regression,
Diarrhea,
Dystonia,
EEG abnormality,
EEG with generalized slow activity,
EMG: axonal abnormality,
Hallucinations,
Hypercholesterolemia,
Hyperreflexia,
Intellectual disability,
Joint dislocation,
Joint stiffness,
Malabsorption,
Muscle weakness,
Myocardial infarction,
Myoclonus,
Nephrolithiasis,
Neurological speech impairment,
Optic disc pallor,
Osteoporosis,
Peripheral neuropathy,
Pseudobulbar paralysis,
Respiratory insufficiency,
Seizure,
Spasticity,
Tendon xanthomatosis,
Tremor,
Tuberous xanthoma,
Xanthelasma,
Xanthomatosis
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Mouse (22 sources):
abnormal bile composition,
abnormal bile salt homeostasis,
abnormal circulating cholesterol level,
abnormal feces composition,
abnormal vitamin D level,
decreased bile salt level,
decreased brain weight,
decreased cholesterol level,
decreased intestinal cholesterol absorption,
decreased kidney weight,
enlarged adrenocortical cells,
homeostasis/metabolism phenotype,
improved glucose tolerance,
increased adrenal gland weight,
increased cholesterol level,
increased circulating VLDL triglyceride level,
increased fatty acids level,
increased lean body mass,
increased liver triglyceride level,
increased liver weight,
increased spleen weight,
increased sterol level
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View all ortholog results at Monarch
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