Monarch Ortholog Phenotypes
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Human (43 sources):
Abnormality of circulating adrenocorticotropin level,
Abnormality of neutrophils,
Adrenal insufficiency,
Anorexia,
Azoospermia,
Chronic fatigue,
Congenital hypothyroidism,
Constipation,
Cryptorchidism,
Decreased circulating cortisol level,
Decreased circulating dehydroepiandrosterone concentration,
Diarrhea,
Dilated cardiomyopathy,
EMG abnormality,
Elevated circulating creatine kinase concentration,
Episodic abdominal pain,
Failure to thrive,
Generalized hyperpigmentation,
Hyperkalemia,
Hypernatriuria,
Hypertrophic cardiomyopathy,
Hypoglycemic coma,
Hypoglycemic seizures,
Hyponatremia,
Hypotension,
Impaired cortisol response to insulin stimulation test,
Intellectual disability,
Ketotic hypoglycemia,
Leydig cell neoplasia,
Lipoatrophy,
Myopathy,
Palmoplantar keratoderma,
Precocious puberty,
Recurrent infections,
Recurrent urinary tract infections,
Renal salt wasting,
Sensorineural hearing impairment,
Tall stature,
Testicular adrenal rest tumor,
Tetraplegia,
Vomiting,
Weight loss,
obsolete Decreased circulating aldosterone level
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Mouse (15 sources):
abnormal blood flow velocity,
abnormal definitive hematopoiesis,
abnormal heart shape,
abnormal myocardial fiber morphology,
decreased fetal cardiomyocyte proliferation,
decreased fibroblast proliferation,
dilated heart atrium,
embryonic lethality during organogenesis, complete penetrance,
liver vascular congestion,
neonatal lethality, complete penetrance,
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View all ortholog results at Monarch
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