Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
Autosomal recessive cutis laxa type 2A
Autosomal recessive
Neonatal
Autosomal recessive cutis laxa type 2B
Autosomal recessive
Infancy, Neonatal
Autosomal recessive distal nebulin myopathy
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Autosomal recessive dopa-responsive dystonia
Autosomal recessive
Infancy, Neonatal
Autosomal recessive epidermolytic ichthyosis
Autosomal recessive
Autosomal recessive extra-oral halitosis
Autosomal recessive
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive
Neonatal
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive
Neonatal
Autosomal recessive generalized epidermolysis bullosa simplex
Autosomal recessive
Infancy, Neonatal
Autosomal recessive hereditary chronic pancreatitis
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 hypophosphatemic rickets
Autosomal recessive
Childhood, Infancy
Autosomal recessive infantile hypercalcemia
Autosomal recessive
Infancy, Neonatal
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 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, type 28
Autosomal recessive
Adolescent, Adult, Childhood
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive
Childhood