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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

Autosomal dominant vitreoretinochoroidopathy

ORPHA:3086Disease

Autosomal dominant

All ages

Autosomal erythropoietic protoporphyria

ORPHA:79278Disease

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Autosomal non-syndromic agammaglobulinemia

ORPHA:33110Clinical subtype

Autosomal dominant, Autosomal recessive

All ages

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129Disease

Autosomal recessive

Autosomal recessive Alport syndrome

ORPHA:88919Clinical subtype

Autosomal recessive

Childhood

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 Emery-Dreifuss muscular dystrophy

ORPHA:98855Etiological subtype

Autosomal recessive

Childhood

Autosomal recessive Kenny-Caffey syndrome

ORPHA:93324Etiological subtype

Autosomal recessive

Childhood

Autosomal recessive Robinow syndrome

ORPHA:1507Clinical subtype

Autosomal recessive

Infancy, Neonatal

Autosomal recessive Stickler syndrome

ORPHA:250984Clinical subtype

Autosomal recessive

Childhood

Autosomal recessive anterior segment dysgenesis

ORPHA:519388Malformation

Autosomal recessive

Adolescent, Adult, Childhood

Autosomal recessive ataxia due to PEX10 deficiency

ORPHA:247815Disease

Autosomal recessive

Adolescent, Childhood

Autosomal recessive ataxia due to PEX16 deficiency

ORPHA:642954Disease

Autosomal recessive

Autosomal recessive ataxia due to PEX2 deficiency

ORPHA:642965Disease

Autosomal recessive

Adolescent, Childhood

Autosomal recessive ataxia due to ubiquinone deficiency

ORPHA:139485Disease

Autosomal recessive

Childhood

Autosomal recessive ataxia, Beauce type

ORPHA:88644Disease

Autosomal recessive

Adult, Childhood, Neonatal

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

ORPHA:521411Disease

Autosomal recessive

Adolescent, Infancy

Autosomal recessive axonal hereditary motor and sensory neuropathy

ORPHA:91024Clinical group

Autosomal recessive

Autosomal recessive axonal neuropathy with neuromyotonia

ORPHA:324442Disease

Autosomal recessive

Childhood

Autosomal recessive bestrophinopathy

ORPHA:139455Disease

Autosomal recessive

All ages

Autosomal recessive brachyolmia

ORPHA:448242Malformation

Autosomal recessive

Childhood

Autosomal recessive centronuclear myopathy

ORPHA:169186Disease

Autosomal recessive

Childhood, Infancy, Neonatal

Autosomal recessive cerebellar ataxia

ORPHA:1172Clinical group

Autosomal recessive

All ages

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Редкие заболевания

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

Редкие (орфанные) заболевания

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