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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)Биоаномалия Категория Клиническая группа Клинический подтип Clinical syndrome Заболевание Этиологический подтип Гистопатологический подтип Порок развития Морфологическая аномалия Клиническая ситуация

Autosomal recessive cutis laxa type 1

ORPHA:90349Заболевание

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2

ORPHA:90350Клиническая группа

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2, classic type

ORPHA:357074Клинический подтип

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2A

ORPHA:357058Заболевание

Autosomal recessive

Neonatal

Autosomal recessive cutis laxa type 2B

ORPHA:357064Заболевание

Autosomal recessive

Infancy, Neonatal

Autosomal recessive degenerative and progressive cerebellar ataxia

ORPHA:98098Категория

Autosomal recessive

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

ORPHA:308041Категория

Autosomal recessive

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

ORPHA:307804Категория

Autosomal recessive

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

ORPHA:98357Категория

Autosomal recessive

Autosomal recessive distal hereditary motor neuropathy

ORPHA:140468Категория

Autosomal recessive

Autosomal recessive distal myopathy

ORPHA:206653Категория

Autosomal recessive

Autosomal recessive distal nebulin myopathy

ORPHA:399103Заболевание

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Autosomal recessive distal osteolysis syndrome

ORPHA:2776Порок развития

Autosomal recessive

Childhood

Autosomal recessive distal renal tubular acidosis

ORPHA:402041Клинический подтип

Autosomal recessive

Childhood, Infancy

Autosomal recessive dopa-responsive dystonia

ORPHA:101150Заболевание

Autosomal recessive

Infancy, Neonatal

Autosomal recessive epidermolytic ichthyosis

ORPHA:512103Заболевание

Autosomal recessive

Autosomal recessive extra-oral halitosis

ORPHA:562538Заболевание

Autosomal recessive

Autosomal recessive faciodigitogenital syndrome

ORPHA:1974Порок развития

Autosomal recessive

Neonatal

Autosomal recessive frontotemporal pachygyria

ORPHA:329329Порок развития

Autosomal recessive

Infancy, Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

ORPHA:89842Заболевание

Autosomal recessive

Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

ORPHA:79408Заболевание

Autosomal recessive

Neonatal

Autosomal recessive generalized epidermolysis bullosa simplex

ORPHA:89838Заболевание

Autosomal recessive

Infancy, Neonatal

Autosomal recessive hereditary chronic pancreatitis

ORPHA:700124Заболевание

Autosomal recessive

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

ORPHA:140459Категория

Autosomal recessive

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Редкие заболевания

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Редкие (орфанные) заболевания

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2A

Autosomal recessive cutis laxa type 2B

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal myopathy

Autosomal recessive distal nebulin myopathy

Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive dopa-responsive dystonia

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive extra-oral halitosis

Autosomal recessive faciodigitogenital syndrome

Autosomal recessive frontotemporal pachygyria

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive hereditary chronic pancreatitis

Autosomal recessive hereditary demyelinating motor and sensory neuropathy