MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Autosomal dominant Emery-Dreifuss muscular dystrophy

ORPHA:98853Этиол. подт.
Autosomal dominant

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325Этиол. подт.
Autosomal dominant

Autosomal dominant Robinow syndrome

ORPHA:3107Клин. подт.
Autosomal dominant

Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335Заболевание
Autosomal dominant

Autosomal dominant aplasia and myelodysplasia

ORPHA:314399Заболевание
Autosomal dominant

Autosomal dominant brachyolmia

ORPHA:93304Порок
Autosomal dominant

Autosomal dominant centronuclear myopathy

ORPHA:169189Заболевание
Autosomal dominant

Autosomal dominant cerebellar ataxia

ORPHA:99Кат.
Autosomal dominant

Autosomal dominant cerebellar ataxia type I

ORPHA:94145Клин. гр.
Autosomal dominant

Autosomal dominant cerebellar ataxia type II

ORPHA:208508Клин. гр.
Autosomal dominant

Autosomal dominant cerebellar ataxia type III

ORPHA:94148Клин. гр.
Autosomal dominant

Autosomal dominant cerebellar ataxia type IV

ORPHA:94149Клин. гр.
Autosomal dominant

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404Заболевание
Autosomal dominant, Not applicable

Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447Заболевание
Autosomal dominant

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

ORPHA:656912Заболевание
Autosomal dominant

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

ORPHA:656313Заболевание
Autosomal dominant

Autosomal dominant complex spastic paraplegia

ORPHA:100979Клин. гр.
Autosomal dominant

Autosomal dominant congenital benign spinal muscular atrophy

ORPHA:1216Заболевание
Autosomal dominant

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

ORPHA:716908Этиол. подт.
Autosomal dominant

Autosomal dominant cutis laxa

ORPHA:90348Заболевание
Autosomal dominant

Autosomal dominant deafness-onychodystrophy syndrome

ORPHA:79499Порок
Autosomal dominant

Autosomal dominant diffuse mutilating palmoplantar keratoderma

ORPHA:307773Клин. гр.
Autosomal dominant

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

ORPHA:98353Кат.
Autosomal dominant

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

ORPHA:308031Кат.
Autosomal dominant