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 2 due to KIF5A mutation
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant
Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant
Childhood, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant
Adolescent, Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant
Adolescent, Adult
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