Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant
All ages
Autosomal erythropoietic protoporphyria
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Autosomal non-syndromic agammaglobulinemia
Autosomal dominant, Autosomal recessive
All ages
Autosomal recessive ACTN2-related distal myopathy
Autosomal recessive
Autosomal recessive Alport syndrome
Autosomal recessive
Childhood
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive
Infancy, Neonatal
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive
Childhood
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive
Childhood
Autosomal recessive Robinow syndrome
Autosomal recessive
Infancy, Neonatal
Autosomal recessive Stickler syndrome
Autosomal recessive
Childhood
Autosomal recessive anterior segment dysgenesis
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive
Adolescent, Childhood
Autosomal recessive ataxia due to PEX16 deficiency
Autosomal recessive
Autosomal recessive ataxia due to PEX2 deficiency
Autosomal recessive
Adolescent, Childhood
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive
Childhood
Autosomal recessive ataxia, Beauce type
Autosomal recessive
Adult, Childhood, Neonatal
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive
Adolescent, Infancy
Autosomal recessive axonal hereditary motor and sensory neuropathy
Autosomal recessive
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive
Childhood
Autosomal recessive bestrophinopathy
Autosomal recessive
All ages
Autosomal recessive brachyolmia
Autosomal recessive
Childhood
Autosomal recessive centronuclear myopathy
Autosomal recessive
Childhood, Infancy, Neonatal
Autosomal recessive cerebellar ataxia
Autosomal recessive
All ages