Seltene Erkrankungen (Orphan)
Komplette Bibliothek mit 7,547 Erkrankungen — Genetik, Phänotypen, Epidemiologie, Orphan-Arzneimittel und Studien.
Autosomal recessive hereditary sensory and autonomic neuropathy
Autosomal recessive
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Autosomal recessive
Infancy
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Autosomal recessive
Neonatal
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive hypophosphatemic rickets
Autosomal recessive
Childhood, Infancy
Autosomal recessive infantile hypercalcemia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive
Childhood
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive
Infancy, Neonatal
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Autosomal recessive
Adult, All ages, Childhood
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Autosomal recessive
Childhood
Autosomal recessive isolated diffuse palmoplantar keratoderma
Autosomal recessive
Autosomal recessive isolated optic atrophy
Autosomal recessive
Childhood, Infancy, Neonatal
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Autosomal recessive
Antenatal
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Autosomal recessive
Infancy, Neonatal
Autosomal recessive limb-girdle muscular dystrophy
Autosomal recessive
Autosomal recessive limb-girdle muscular dystrophy, type 28
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive
Childhood
Autosomal recessive malignant osteopetrosis
Autosomal recessive
Infancy, Neonatal
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Autosomal recessive
All ages
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal recessive
All ages
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive
Infancy
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Autosomal recessive
Infancy