hepatolenticular disease
11genetic disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑inherited disease, ↑inherited disorder, ↑hereditary disease, ↑ …
12hereditary disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑inherited disease, ↑inherited disorder, ↑ …
13inherited disease — noun a disease or disorder that is inherited genetically • Syn: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic defect, ↑congenital disease, ↑inherited disorder, ↑hereditary disease, ↑ …
14Wilson's disease — noun a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain • Syn: ↑hepatolenticular degeneration • Hypernyms: ↑genetic disease, ↑genetic disorder, ↑genetic abnormality, ↑genetic… …
15Wilson's disease — Pathol. a rare hereditary disease in which copper accumulates in the brain and liver, gradually leading to tremors, muscular rigidity, kidney malfunction, and cognitive disturbances: marked by Kayser Fleischer rings. [named after Samuel Alexander …
16Болезнь Вильсона, Болезнь Вильсона-Коновалова (Wilson'S Disease) — врожденное нарушение метаболизма меди, характеризующееся недостаточным содержанием в организме церулоплазмина (в норме образующего нетоксичное соединение с медью). Свободная медь может оседать в клетках печени, вызывая развитие желтухи и цирроза… …
17Wilson's disease — an inborn defect of copper metabolism in which there is a deficiency of caeruloplasmin (which normally forms a nontoxic complex with copper). The free copper may be deposited in the liver, causing jaundice and cirrhosis, or in the brain, causing… …
18HLD — hepatolenticular degeneration; herniated lumbar disk; Hippel Lindau disease; hypersensitivity lung disease …
19HLD — • hepatolenticular degeneration; • herniated lumbar disk; • Hippel Lindau disease; • hypersensitivity lung disease …
20Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система …