Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant
Adolescent, Adult, Elderly
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant
Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant
Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant
Adolescent, Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant
All ages
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant
All ages
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant
Adolescent, Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant
Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Autosomal dominant
Adolescent, Adult, Elderly
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant
Adult, Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Autosomal dominant adult-onset proximal spinal muscular atrophy
Autosomal dominant
Adult, Elderly
Autosomal dominant aplasia and myelodysplasia
Autosomal dominant
Childhood
Autosomal dominant centronuclear myopathy
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Autosomal dominant, Not applicable
Adult
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant
Adolescent, Antenatal, Childhood, Infancy, Neonatal
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Autosomal dominant
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Autosomal dominant
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant
Antenatal, Neonatal