Orphanet · Orphadata CC-BY-4.0

Редкие (орфанные) заболевания

Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.

7,547

Заболевания

4 552

Гены

8 700

Фенотипы

140

Регионы

Диагностический помощник Поиск препаратов Клинические исследования Статистика

Все (7,547)Bio anomaly Category Clinical group Clinical subtype Clinical syndrome Disease Etiological subtype Histopathological subtype Malformation Morphological anomaly Clinical situation

Найдено 3,968 заболеваний (тип: Disease)

Сбросить фильтры

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

ORPHA:319589Disease

Autosomal dominant

Infancy

Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050Disease

Autosomal dominant

Childhood, Infancy

Autosomal dominant myoglobinuria

ORPHA:99846Disease

Autosomal dominant

No data available

Autosomal dominant neovascular inflammatory vitreoretinopathy

ORPHA:329211Disease

Autosomal dominant

All ages

Autosomal dominant optic atrophy and cataract

ORPHA:67036Disease

Autosomal dominant

Childhood

Autosomal dominant optic atrophy and peripheral neuropathy

ORPHA:250932Disease

Autosomal dominant

Childhood

Autosomal dominant optic atrophy plus syndrome

ORPHA:1215Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant optic atrophy, classic form

ORPHA:98673Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant palmoplantar keratoderma and congenital alopecia

ORPHA:1010Disease

Autosomal dominant

Infancy, Neonatal

Autosomal dominant polycystic kidney disease

ORPHA:730Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

ORPHA:88924Disease

Autosomal dominant

Adolescent, Childhood, Infancy

Autosomal dominant primary hypomagnesemia with hypocalciuria

ORPHA:34528Disease

Autosomal dominant

All ages

Autosomal dominant progressive external ophthalmoplegia

ORPHA:254892Disease

Autosomal dominant

Adolescent, Adult

Autosomal dominant progressive nephropathy with hypertension

ORPHA:88659Disease

Autosomal dominant

Adult

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867Disease

Autosomal dominant

Adult

Autosomal dominant secondary polycythemia

ORPHA:247511Disease

Autosomal dominant

Infancy, Neonatal

Autosomal dominant severe congenital neutropenia

ORPHA:486Disease

Autosomal dominant

Infancy, Neonatal

Autosomal dominant slowed nerve conduction velocity

ORPHA:140481Disease

Autosomal dominant

Adult

Autosomal dominant spastic ataxia type 1

ORPHA:251282Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 10

ORPHA:100991Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 12

ORPHA:100993Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 13

ORPHA:100994Disease

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 17

ORPHA:100998Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 19

ORPHA:100999Disease

Autosomal dominant

Adult

← Предыдущая

15 16 17 18 19 20 21

Редкие заболевания

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

Редкие (орфанные) заболевания

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