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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)

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Autosomal dominant spastic paraplegia type 29

ORPHA:101009Disease

Autosomal dominant

Adolescent

Autosomal dominant spastic paraplegia type 3

ORPHA:100984Disease

Autosomal dominant

Adult, Childhood

Autosomal dominant spastic paraplegia type 31

ORPHA:101011Disease

Autosomal dominant

Childhood

Autosomal dominant spastic paraplegia type 36

ORPHA:320365Disease

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 37

ORPHA:171612Disease

Autosomal dominant

All ages

Autosomal dominant spastic paraplegia type 38

ORPHA:171617Disease

Autosomal dominant

Childhood

Autosomal dominant spastic paraplegia type 4

ORPHA:100985Disease

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant spastic paraplegia type 41

ORPHA:320355Disease

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 42

ORPHA:171863Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 6

ORPHA:100988Disease

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 73

ORPHA:444099Disease

Autosomal dominant

Adult

Autosomal dominant spastic paraplegia type 8

ORPHA:100989Disease

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 80

ORPHA:631068Disease

Autosomal dominant

Adolescent, Childhood

Autosomal dominant spastic paraplegia type 9A

ORPHA:447753Disease

Autosomal dominant

Adolescent, Adult, Infancy

Autosomal dominant spastic paraplegia type 9B

ORPHA:447757Disease

Autosomal dominant

Adolescent, Adult, Infancy

Autosomal dominant striatal neurodegeneration

ORPHA:228169Disease

Autosomal dominant

Adult

Autosomal dominant thrombocytopenia with platelet secretion defect

ORPHA:466806Disease

Autosomal dominant

Childhood

Autosomal dominant tubulointerstitial kidney disease

ORPHA:34149Disease

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant vitreoretinochoroidopathy

ORPHA:3086Disease

Autosomal dominant

All ages

Autosomal erythropoietic protoporphyria

ORPHA:79278Disease

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129Disease

Autosomal recessive

Autosomal recessive Charcot-Marie-Tooth disease type 2X

ORPHA:466775Disease

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ORPHA:101097Disease

Autosomal recessive

Infancy, Neonatal

Autosomal recessive ataxia due to PEX10 deficiency

ORPHA:247815Disease

Autosomal recessive

Adolescent, Childhood

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Редкие заболевания

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 3

Autosomal dominant spastic paraplegia type 31

Autosomal dominant spastic paraplegia type 36

Autosomal dominant spastic paraplegia type 37

Autosomal dominant spastic paraplegia type 38

Autosomal dominant spastic paraplegia type 4

Autosomal dominant spastic paraplegia type 41

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 6

Autosomal dominant spastic paraplegia type 73

Autosomal dominant spastic paraplegia type 8

Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal dominant striatal neurodegeneration

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal dominant tubulointerstitial kidney disease

Autosomal dominant vitreoretinochoroidopathy

Autosomal erythropoietic protoporphyria

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive ataxia due to PEX10 deficiency

Редкие (орфанные) заболевания

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 3

Autosomal dominant spastic paraplegia type 31

Autosomal dominant spastic paraplegia type 36

Autosomal dominant spastic paraplegia type 37

Autosomal dominant spastic paraplegia type 38

Autosomal dominant spastic paraplegia type 4

Autosomal dominant spastic paraplegia type 41

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 6

Autosomal dominant spastic paraplegia type 73

Autosomal dominant spastic paraplegia type 8

Autosomal dominant spastic paraplegia type 80

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal dominant striatal neurodegeneration

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal dominant tubulointerstitial kidney disease

Autosomal dominant vitreoretinochoroidopathy

Autosomal erythropoietic protoporphyria

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive ataxia due to PEX10 deficiency