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Сирек (орфандық) аурулар

7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.

7,547

Аурулар

4,552

Гендер

8,700

Фенотиптер

140

Аймақтар

Диагностикалық көмекші Іздеу препаратов Клиникалық зерттеулер Статистика

Все (7,547)Био аномалия Санат Клиникалық топ Клиникалық подтип Clinical syndrome Ауру Этиологиялық подтип Гистопатологиялық подтип Мальформация Морфологиялық аномалия Клиникалық жағдай

Табылды 3,968 заболеваний (түрі: Ауру)

Сүзгілерді қалпына келтіру

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

ORPHA:319589Ауру

Autosomal dominant

Infancy

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Ауру

Autosomal dominant

Childhood, Infancy

Autosomal dominant myoglobinuria

ORPHA:99846Ауру

Autosomal dominant

No data available

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Ауру

Autosomal dominant

All ages

Autosomal dominant optic atrophy and cataract

ORPHA:67036Ауру

Autosomal dominant

Childhood

Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932Ауру

Autosomal dominant

Childhood

Autosomal dominant optic atrophy plus syndrome

ORPHA:1215Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant optic atrophy, classic form

ORPHA:98673Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant palmoplantar keratoderma and congenital alopecia

ORPHA:1010Ауру

Autosomal dominant

Infancy, Neonatal

Autosomal dominant polycystic kidney disease

ORPHA:730Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

ORPHA:88924Ауру

Autosomal dominant

Adolescent, Childhood, Infancy

Autosomal dominant primary hypomagnesemia with hypocalciuria

ORPHA:34528Ауру

Autosomal dominant

All ages

Autosomal dominant progressive external ophthalmoplegia

ORPHA:254892Ауру

Autosomal dominant

Adolescent, Adult

Autosomal dominant progressive nephropathy with hypertension

ORPHA:88659Ауру

Autosomal dominant

Adult

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867Ауру

Autosomal dominant

Adult

Autosomal dominant secondary polycythemia

ORPHA:247511Ауру

Autosomal dominant

Infancy, Neonatal

Autosomal dominant severe congenital neutropenia

ORPHA:486Ауру

Autosomal dominant

Infancy, Neonatal

Autosomal dominant slowed nerve conduction velocity

ORPHA:140481Ауру

Autosomal dominant

Adult

Autosomal dominant spastic ataxia type 1

ORPHA:251282Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 10

ORPHA:100991Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 12

ORPHA:100993Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 13

ORPHA:100994Ауру

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 17

ORPHA:100998Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 19

ORPHA:100999Ауру

Autosomal dominant

Adult

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Сирек аурулар

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant myoglobinuria

Autosomal dominant neovascular inflammatory vitreoretinopathy

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic form

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant progressive external ophthalmoplegia

Autosomal dominant progressive nephropathy with hypertension

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant secondary polycythemia

Autosomal dominant severe congenital neutropenia

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant spastic ataxia type 1

Autosomal dominant spastic paraplegia type 10

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 13

Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 19

Сирек (орфандық) аурулар

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant myoglobinuria

Autosomal dominant neovascular inflammatory vitreoretinopathy

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic form

Autosomal dominant palmoplantar keratoderma and congenital alopecia

Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant progressive external ophthalmoplegia

Autosomal dominant progressive nephropathy with hypertension

Autosomal dominant rhegmatogenous retinal detachment

Autosomal dominant secondary polycythemia

Autosomal dominant severe congenital neutropenia

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant spastic ataxia type 1

Autosomal dominant spastic paraplegia type 10

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 13

Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 19