MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Autosomal dominant Emery-Dreifuss muscular dystrophy

ORPHA:98853Etio. sub.
Autosomal dominant

Autosomal dominant Kenny-Caffey syndrome

ORPHA:93325Etio. sub.
Autosomal dominant

Autosomal dominant Robinow syndrome

ORPHA:3107Clin. sub.
Autosomal dominant

Autosomal dominant adult-onset proximal spinal muscular atrophy

ORPHA:209335Disease
Autosomal dominant

Autosomal dominant aplasia and myelodysplasia

ORPHA:314399Disease
Autosomal dominant

Autosomal dominant brachyolmia

ORPHA:93304Malform.
Autosomal dominant

Autosomal dominant centronuclear myopathy

ORPHA:169189Disease
Autosomal dominant

Autosomal dominant cerebellar ataxia

ORPHA:99Cat.
Autosomal dominant

Autosomal dominant cerebellar ataxia type I

ORPHA:94145Clin. grp.
Autosomal dominant

Autosomal dominant cerebellar ataxia type II

ORPHA:208508Clin. grp.
Autosomal dominant

Autosomal dominant cerebellar ataxia type III

ORPHA:94148Clin. grp.
Autosomal dominant

Autosomal dominant cerebellar ataxia type IV

ORPHA:94149Clin. grp.
Autosomal dominant

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404Disease
Autosomal dominant, Not applicable

Autosomal dominant childhood-onset proximal spinal muscular atrophy

ORPHA:363447Disease
Autosomal dominant

Autosomal dominant combined immunodeficiency due to ERBIN deficiency

ORPHA:656912Disease
Autosomal dominant

Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency

ORPHA:656313Disease
Autosomal dominant

Autosomal dominant complex spastic paraplegia

ORPHA:100979Clin. grp.
Autosomal dominant

Autosomal dominant congenital benign spinal muscular atrophy

ORPHA:1216Disease
Autosomal dominant

Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis

ORPHA:716908Etio. sub.
Autosomal dominant

Autosomal dominant cutis laxa

ORPHA:90348Disease
Autosomal dominant

Autosomal dominant deafness-onychodystrophy syndrome

ORPHA:79499Malform.
Autosomal dominant

Autosomal dominant diffuse mutilating palmoplantar keratoderma

ORPHA:307773Clin. grp.
Autosomal dominant

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

ORPHA:98353Cat.
Autosomal dominant

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

ORPHA:308031Cat.
Autosomal dominant