13 Terms
Contributors in Diseases
Diseases
Peutz-Jeghers syndrome
Health care; Diseases
A hereditary disease caused by autosomal dominant mutations involving chromosome 19. It is characterized by the presence of intestinal polyps, consistently in the jejunum, and mucocutaneous ...
apparent mineralocorticoid excess syndrome
Health care; Diseases
A hereditary disease characterized by childhood onset hypertension, hypokalemic alkalosis, and low renin and aldosterone secretion. It results from a defect in the activity of the 11-beta-hydroxystero ...
multiple hamartoma syndrome
Health care; Diseases
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other ...
canine hip dysplasia
Health care; Diseases
A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.
pseudohypoaldosteronism
Health care; Diseases
A hereditary disorder characterized by salt wasting and growth retardation, presenting in infancy as high levels of urinary sodium despite hyponatremia, hyperkalemia, hyperreninemia, and elevated ...
mandibulofacial dysostosis
Health care; Diseases
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia ...
Marfan syndrome
Health care; Diseases
A hereditary disorder of connective tissue characterized by tall stature, elongated extremities, subluxation of the lens, dilatation of the ascending aorta, and "pigeon breast." It is inherited as an ...
