Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
Autosomal dominant cutis laxa
Autosomal dominant
Infancy, Neonatal
Autosomal dominant distal nebulin myopathy
Autosomal dominant
Autosomal dominant dopa-responsive dystonia
Autosomal dominant, Not applicable
Childhood
Autosomal dominant epidermolytic ichthyosis
Autosomal dominant
Neonatal
Autosomal dominant focal dystonia, DYT25 type
Autosomal dominant
Adult
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Autosomal dominant
Childhood
Autosomal dominant generalized dystrophic epidermolysis bullosa
Autosomal dominant
Infancy, Neonatal
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Autosomal dominant, Not applicable
Infancy, Neonatal
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant
Neonatal
Autosomal dominant hereditary chronic pancreatitis
Autosomal dominant
Adolescent, Childhood
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Autosomal dominant
Infancy, Neonatal
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant
Infancy, Neonatal
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant
Infancy, Neonatal
Autosomal dominant hypophosphatemic rickets
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant
Adult
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant
Adolescent, Adult, Childhood
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant
Adult
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant, Not applicable
No data available
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal dominant
All ages
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant
All ages
Autosomal dominant keratitis
Autosomal dominant
Childhood
Autosomal dominant macrothrombocytopenia
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant
Adolescent