Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Cerebrooculonasal syndrome
Autosomal dominant
Antenatal, Neonatal
Cerebrotendinous xanthomatosis
Autosomal recessive
Infancy, Neonatal
Cernunnos-XLF deficiency
Autosomal recessive
Infancy, Neonatal
Cerulean cataract
Autosomal dominant
Childhood
Cervical hypertrichosis-peripheral neuropathy syndrome
Autosomal recessive
Childhood
Chapare hemorrhagic fever
All ages
Char syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Charcot-Marie-Tooth disease type 1
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Charcot-Marie-Tooth disease type 1A
Autosomal dominant
Childhood
Charcot-Marie-Tooth disease type 1B
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Charcot-Marie-Tooth disease type 1C
Autosomal dominant
Adolescent, Adult, Childhood
Charcot-Marie-Tooth disease type 1D
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Charcot-Marie-Tooth disease type 1E
Autosomal dominant
Childhood, Infancy
Charcot-Marie-Tooth disease type 1F
Autosomal dominant
Childhood, Infancy
Charcot-Marie-Tooth disease type 2B1
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 2B2
Autosomal recessive
Adult
Charcot-Marie-Tooth disease type 2B5
Autosomal recessive
Childhood, Infancy
Charcot-Marie-Tooth disease type 2H
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 2P
Autosomal dominant, Autosomal recessive
Adolescent, Adult
Charcot-Marie-Tooth disease type 2R
Autosomal recessive
Infancy
Charcot-Marie-Tooth disease type 2S
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Charcot-Marie-Tooth disease type 2T
Autosomal recessive
Adult
Charcot-Marie-Tooth disease type 4
Autosomal recessive
Childhood, Infancy
Charcot-Marie-Tooth disease type 4A
Autosomal recessive
Infancy, Neonatal