Monarch Ortholog Phenotypes
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Human (35 sources):
Abnormal circulating creatine kinase concentration,
Abnormal granulocyte morphology,
Abnormality of blood and blood-forming tissues,
Areflexia,
Ataxia,
Cardiomyopathy,
Central nervous system degeneration,
Congenital nonbullous ichthyosiform erythroderma,
Difficulty walking,
EMG: myopathic abnormalities,
Eclabion,
Ectropion,
Elevated circulating hepatic transaminase concentration,
Everted lower lip vermilion,
Global developmental delay,
Hepatic steatosis,
Hepatomegaly,
Hypertriglyceridemia,
Increased CSF protein,
Increased intramyocellular lipid droplets,
Intellectual disability,
Micronodular cirrhosis,
Microtia,
Muscle weakness,
Myopathy,
Nystagmus,
Progressive proximal muscle weakness,
Ptosis,
Sensorineural hearing impairment,
Short stature,
Shoulder girdle muscle weakness,
Small earlobe,
Strabismus,
Subcapsular cataract,
obsolete Hypotrichosis
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Mouse (44 sources):
abnormal Sertoli cell morphology,
abnormal ceramide level,
abnormal hepatocyte morphology,
abnormal keratinocyte differentiation,
abnormal lipid homeostasis,
abnormal lipid level,
abnormal maxilla morphology,
abnormal skin development,
abnormal triglyceride level,
decreased birth body size,
decreased birth weight,
decreased body length,
decreased bone trabecula number,
decreased circulating free fatty acids level,
decreased circulating glucose level,
decreased fatty acid oxidation,
decreased fatty acids level,
decreased lipoprotein lipase activity,
decreased liver triglyceride level,
decreased oxygen consumption,
decreased triglyceride lipase activity,
decreased ventricle muscle contractility,
epidermis stratum spinosum hyperplasia,
homeostasis/metabolism phenotype,
impaired lipolysis,
impaired skin barrier function,
improved glucose tolerance,
increased cardiac cell glucose uptake,
increased circulating alanine transaminase level,
increased circulating aspartate transaminase level,
increased heart weight,
increased left ventricle weight,
increased liver cholesterol level,
increased liver free fatty acids level,
increased liver triglyceride level,
increased liver weight,
increased respiratory quotient,
increased trabecular bone thickness,
increased triglyceride level,
macrovesicular hepatic steatosis,
microvesicular hepatic steatosis,
oxidative stress,
pale liver,
premature death
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