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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

Autosomal dominant vitreoretinochoroidopathy

ORPHA:3086Ауру

Autosomal dominant

All ages

Autosomal erythropoietic protoporphyria

ORPHA:79278Ауру

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Autosomal non-syndromic agammaglobulinemia

ORPHA:33110Клиникалық подтип

Autosomal dominant, Autosomal recessive

All ages

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129Ауру

Autosomal recessive

Autosomal recessive Alport syndrome

ORPHA:88919Клиникалық подтип

Autosomal recessive

Childhood

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 Emery-Dreifuss muscular dystrophy

ORPHA:98855Этиологиялық подтип

Autosomal recessive

Childhood

Autosomal recessive Kenny-Caffey syndrome

ORPHA:93324Этиологиялық подтип

Autosomal recessive

Childhood

Autosomal recessive Robinow syndrome

ORPHA:1507Клиникалық подтип

Autosomal recessive

Infancy, Neonatal

Autosomal recessive Stickler syndrome

ORPHA:250984Клиникалық подтип

Autosomal recessive

Childhood

Autosomal recessive anterior segment dysgenesis

ORPHA:519388Мальформация

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive ataxia due to PEX10 deficiency

ORPHA:247815Ауру

Autosomal recessive

Adolescent, Childhood

Autosomal recessive ataxia due to PEX16 deficiency

ORPHA:642954Ауру

Autosomal recessive

Autosomal recessive ataxia due to PEX2 deficiency

ORPHA:642965Ауру

Autosomal recessive

Adolescent, Childhood

Autosomal recessive ataxia due to ubiquinone deficiency

ORPHA:139485Ауру

Autosomal recessive

Childhood

Autosomal recessive ataxia, Beauce type

ORPHA:88644Ауру

Autosomal recessive

Adult, Childhood, Neonatal

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

ORPHA:521411Ауру

Autosomal recessive

Adolescent, Infancy

Autosomal recessive axonal hereditary motor and sensory neuropathy

ORPHA:91024Клиникалық топ

Autosomal recessive

Autosomal recessive axonal neuropathy with neuromyotonia

ORPHA:324442Ауру

Autosomal recessive

Childhood

Autosomal recessive bestrophinopathy

ORPHA:139455Ауру

Autosomal recessive

All ages

Autosomal recessive brachyolmia

ORPHA:448242Мальформация

Autosomal recessive

Childhood

Autosomal recessive centronuclear myopathy

ORPHA:169186Ауру

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive cerebellar ataxia

ORPHA:1172Клиникалық топ

Autosomal recessive

All ages

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Сирек аурулар

Autosomal dominant vitreoretinochoroidopathy

Autosomal erythropoietic protoporphyria

Autosomal non-syndromic agammaglobulinemia

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive Alport syndrome

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive Robinow syndrome

Autosomal recessive Stickler syndrome

Autosomal recessive anterior segment dysgenesis

Autosomal recessive ataxia due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia, Beauce type

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal hereditary motor and sensory neuropathy

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive bestrophinopathy

Autosomal recessive brachyolmia

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia

Сирек (орфандық) аурулар

Autosomal dominant vitreoretinochoroidopathy

Autosomal erythropoietic protoporphyria

Autosomal non-syndromic agammaglobulinemia

Autosomal recessive ACTN2-related distal myopathy

Autosomal recessive Alport syndrome

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive Robinow syndrome

Autosomal recessive Stickler syndrome

Autosomal recessive anterior segment dysgenesis

Autosomal recessive ataxia due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia, Beauce type

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal hereditary motor and sensory neuropathy

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive bestrophinopathy

Autosomal recessive brachyolmia

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia