Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
Charcot-Marie-Tooth disease type 4B1
Autosomal recessive
Infancy, Neonatal
Charcot-Marie-Tooth disease type 4B2
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4B3
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4C
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4D
Autosomal recessive
Adolescent, Childhood
Charcot-Marie-Tooth disease type 4E
Autosomal recessive
Infancy, Neonatal
Charcot-Marie-Tooth disease type 4F
Autosomal recessive
Childhood
Charcot-Marie-Tooth disease type 4G
Autosomal recessive
Adolescent, Childhood
Charcot-Marie-Tooth disease type 4H
Autosomal recessive
Infancy
Charcot-Marie-Tooth disease type 4J
Autosomal recessive
Adult, Childhood, Infancy
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Autosomal recessive
Infancy
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
All ages
Charlie M syndrome
Not applicable
Neonatal
Cheilitis glandularis
Not applicable
Adolescent, Adult, Childhood, Elderly
Cherubism
Autosomal dominant, Autosomal recessive, Not applicable
Childhood
Chikungunya
Not applicable
All ages
Chilblain lupus
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Childhood absence epilepsy
Autosomal dominant
Adolescent, Childhood
Childhood disintegrative disorder
Not applicable
Childhood
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Autosomal recessive
Infancy, Neonatal
Childhood-onset Steinert myotonic dystrophy
Autosomal dominant
Childhood, Infancy
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Autosomal recessive
Childhood
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive
Childhood
Childhood-onset basal ganglia degeneration syndrome
Autosomal recessive
Childhood, Infancy