MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Autosomal dominant Emery-Dreifuss muscular dystrophy

ORPHA:98853Ätl. subt.
Autosomal dominant

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325Ätl. subt.
Autosomal dominant

Autosomal dominant Robinow syndrome

ORPHA:3107Kl. subt.
Autosomal dominant

Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335Kr.
Autosomal dominant

Autosomal dominant aplasia and myelodysplasia

ORPHA:314399Kr.
Autosomal dominant

Autosomal dominant brachyolmia

ORPHA:93304Malf.
Autosomal dominant

Autosomal dominant centronuclear myopathy

ORPHA:169189Kr.
Autosomal dominant

Autosomal dominant cerebellar ataxia

ORPHA:99Kat.
Autosomal dominant

Autosomal dominant cerebellar ataxia type I

ORPHA:94145Kl. gruppe
Autosomal dominant

Autosomal dominant cerebellar ataxia type II

ORPHA:208508Kl. gruppe
Autosomal dominant

Autosomal dominant cerebellar ataxia type III

ORPHA:94148Kl. gruppe
Autosomal dominant

Autosomal dominant cerebellar ataxia type IV

ORPHA:94149Kl. gruppe
Autosomal dominant

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404Kr.
Autosomal dominant, Not applicable

Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447Kr.
Autosomal dominant

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

ORPHA:656912Kr.
Autosomal dominant

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

ORPHA:656313Kr.
Autosomal dominant

Autosomal dominant complex spastic paraplegia

ORPHA:100979Kl. gruppe
Autosomal dominant

Autosomal dominant congenital benign spinal muscular atrophy

ORPHA:1216Kr.
Autosomal dominant

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

ORPHA:716908Ätl. subt.
Autosomal dominant

Autosomal dominant cutis laxa

ORPHA:90348Kr.
Autosomal dominant

Autosomal dominant deafness-onychodystrophy syndrome

ORPHA:79499Malf.
Autosomal dominant

Autosomal dominant diffuse mutilating palmoplantar keratoderma

ORPHA:307773Kl. gruppe
Autosomal dominant

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

ORPHA:98353Kat.
Autosomal dominant

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

ORPHA:308031Kat.
Autosomal dominant