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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Autosomal dominant Emery-Dreifuss muscular dystrophy

ORPHA:98853Этио. под.
Autosomal dominant

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325Этио. под.
Autosomal dominant

Autosomal dominant Robinow syndrome

ORPHA:3107Клин. под.
Autosomal dominant

Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335Ауру
Autosomal dominant

Autosomal dominant aplasia and myelodysplasia

ORPHA:314399Ауру
Autosomal dominant

Autosomal dominant brachyolmia

ORPHA:93304Мальф.
Autosomal dominant

Autosomal dominant centronuclear myopathy

ORPHA:169189Ауру
Autosomal dominant

Autosomal dominant cerebellar ataxia

ORPHA:99Сан.
Autosomal dominant

Autosomal dominant cerebellar ataxia type I

ORPHA:94145Клин. топ
Autosomal dominant

Autosomal dominant cerebellar ataxia type II

ORPHA:208508Клин. топ
Autosomal dominant

Autosomal dominant cerebellar ataxia type III

ORPHA:94148Клин. топ
Autosomal dominant

Autosomal dominant cerebellar ataxia type IV

ORPHA:94149Клин. топ
Autosomal dominant

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404Ауру
Autosomal dominant, Not applicable

Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447Ауру
Autosomal dominant

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

ORPHA:656912Ауру
Autosomal dominant

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

ORPHA:656313Ауру
Autosomal dominant

Autosomal dominant complex spastic paraplegia

ORPHA:100979Клин. топ
Autosomal dominant

Autosomal dominant congenital benign spinal muscular atrophy

ORPHA:1216Ауру
Autosomal dominant

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

ORPHA:716908Этио. под.
Autosomal dominant

Autosomal dominant cutis laxa

ORPHA:90348Ауру
Autosomal dominant

Autosomal dominant deafness-onychodystrophy syndrome

ORPHA:79499Мальф.
Autosomal dominant

Autosomal dominant diffuse mutilating palmoplantar keratoderma

ORPHA:307773Клин. топ
Autosomal dominant

Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature

ORPHA:98353Сан.
Autosomal dominant

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

ORPHA:308031Сан.
Autosomal dominant