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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 spastic paraplegia type 29

ORPHA:101009Ауру

Autosomal dominant

Adolescent

Autosomal dominant spastic paraplegia type 3

ORPHA:100984Ауру

Autosomal dominant

Adult, Childhood

Autosomal dominant spastic paraplegia type 31

ORPHA:101011Ауру

Autosomal dominant

Childhood

Autosomal dominant spastic paraplegia type 36

ORPHA:320365Ауру

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 37

ORPHA:171612Ауру

Autosomal dominant

All ages

Autosomal dominant spastic paraplegia type 38

ORPHA:171617Ауру

Autosomal dominant

Childhood

Autosomal dominant spastic paraplegia type 4

ORPHA:100985Ауру

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant spastic paraplegia type 41

ORPHA:320355Ауру

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 42

ORPHA:171863Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 6

ORPHA:100988Ауру

Autosomal dominant

Adolescent, Adult, Childhood

Autosomal dominant spastic paraplegia type 73

ORPHA:444099Ауру

Autosomal dominant

Adult

Autosomal dominant spastic paraplegia type 8

ORPHA:100989Ауру

Autosomal dominant

Adolescent, Adult

Autosomal dominant spastic paraplegia type 80

ORPHA:631068Ауру

Autosomal dominant

Adolescent, Childhood

Autosomal dominant spastic paraplegia type 9A

ORPHA:447753Ауру

Autosomal dominant

Adolescent, Adult, Infancy

Autosomal dominant spastic paraplegia type 9B

ORPHA:447757Ауру

Autosomal dominant

Adolescent, Adult, Infancy

Autosomal dominant striatal neurodegeneration

ORPHA:228169Ауру

Autosomal dominant

Adult

Autosomal dominant thrombocytopenia with platelet secretion defect

ORPHA:466806Ауру

Autosomal dominant

Childhood

Autosomal dominant tubulointerstitial kidney disease

ORPHA:34149Ауру

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Autosomal dominant vitreoretinochoroidopathy

ORPHA:3086Ауру

Autosomal dominant

All ages

Autosomal erythropoietic protoporphyria

ORPHA:79278Ауру

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129Ауру

Autosomal recessive

Autosomal recessive Charcot-Marie-Tooth disease type 2X

ORPHA:466775Ауру

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ORPHA:101097Ауру

Autosomal recessive

Infancy, Neonatal

Autosomal recessive ataxia due to PEX10 deficiency

ORPHA:247815Ауру

Autosomal recessive

Adolescent, Childhood

← Алдыңғы

16 17 18 19 20 21 22

Келесі →

Сирек аурулар

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

Сирек (орфандық) аурулар

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