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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 recessive cutis laxa type 1

ORPHA:90349Ауру

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2

ORPHA:90350Клиникалық топ

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2, classic type

ORPHA:357074Клиникалық подтип

Autosomal recessive

Infancy, Neonatal

Autosomal recessive cutis laxa type 2A

ORPHA:357058Ауру

Autosomal recessive

Neonatal

Autosomal recessive cutis laxa type 2B

ORPHA:357064Ауру

Autosomal recessive

Infancy, Neonatal

Autosomal recessive degenerative and progressive cerebellar ataxia

ORPHA:98098Санат

Autosomal recessive

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

ORPHA:308041Санат

Autosomal recessive

Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

ORPHA:307804Санат

Autosomal recessive

Autosomal recessive disease with focal palmoplantar keratoderma as a major feature

ORPHA:98357Санат

Autosomal recessive

Autosomal recessive distal hereditary motor neuropathy

ORPHA:140468Санат

Autosomal recessive

Autosomal recessive distal myopathy

ORPHA:206653Санат

Autosomal recessive

Autosomal recessive distal nebulin myopathy

ORPHA:399103Ауру

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Autosomal recessive distal osteolysis syndrome

ORPHA:2776Мальформация

Autosomal recessive

Childhood

Autosomal recessive distal renal tubular acidosis

ORPHA:402041Клиникалық подтип

Autosomal recessive

Childhood, Infancy

Autosomal recessive dopa-responsive dystonia

ORPHA:101150Ауру

Autosomal recessive

Infancy, Neonatal

Autosomal recessive epidermolytic ichthyosis

ORPHA:512103Ауру

Autosomal recessive

Autosomal recessive extra-oral halitosis

ORPHA:562538Ауру

Autosomal recessive

Autosomal recessive faciodigitogenital syndrome

ORPHA:1974Мальформация

Autosomal recessive

Neonatal

Autosomal recessive frontotemporal pachygyria

ORPHA:329329Мальформация

Autosomal recessive

Infancy, Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

ORPHA:89842Ауру

Autosomal recessive

Neonatal

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

ORPHA:79408Ауру

Autosomal recessive

Neonatal

Autosomal recessive generalized epidermolysis bullosa simplex

ORPHA:89838Ауру

Autosomal recessive

Infancy, Neonatal

Autosomal recessive hereditary chronic pancreatitis

ORPHA:700124Ауру

Autosomal recessive

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

ORPHA:140459Санат

Autosomal recessive

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Сирек аурулар

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

Сирек (орфандық) аурулар

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