Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Proximal myopathy with extrapyramidal signs
Autosomal recessive
Childhood, Infancy
Proximal myopathy with focal depletion of mitochondria
Mitochondrial inheritance
Adolescent, Adult, Childhood
Proximal myotonic myopathy
Autosomal dominant
Adolescent, Adult, Elderly
Proximal renal tubular acidosis
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Proximal spinal muscular atrophy
Autosomal recessive
All ages
Proximal spinal muscular atrophy type 1
Autosomal recessive
Infancy, Neonatal
Proximal spinal muscular atrophy type 2
Autosomal recessive
Infancy
Proximal spinal muscular atrophy type 3
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Proximal spinal muscular atrophy type 4
Autosomal recessive
Adult
Proximal symphalangism
Autosomal dominant
Infancy, Neonatal
Prune belly syndrome
Autosomal dominant, Not applicable, X-linked recessive
Antenatal, Neonatal
Pruritic urticarial papules and plaques of pregnancy
Adolescent, Adult
PsAPASH syndrome
Adult
Pseudo-Meigs syndrome
Not applicable
Adult
Pseudo-TORCH syndrome type 1
Autosomal recessive
Antenatal, Neonatal
Pseudo-TORCH syndrome type 2
Autosomal recessive
Antenatal, Neonatal
Pseudo-von Willebrand disease
Autosomal dominant
Adult
Pseudoachondroplasia
Autosomal dominant
Infancy, Neonatal
Pseudoaminopterin syndrome
Antenatal, Neonatal
Pseudodiastrophic dysplasia
Autosomal recessive
Infancy, Neonatal
Pseudohypoaldosteronism type 1
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Pseudohypoaldosteronism type 2
Autosomal dominant, Autosomal recessive
All ages
Pseudohypoaldosteronism type 2B
Autosomal dominant
Pseudohypoaldosteronism type 2C
Autosomal dominant