Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Properdin deficiency
X-linked recessive
Propionic acidemia
Autosomal recessive
Infancy, Neonatal
Proteasome-associated autoinflammatory syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Protein S acquired deficiency
Not applicable
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
Pruritic urticarial papules and plaques of pregnancy
Adolescent, Adult
PsAPASH syndrome
Adult
Pseudo-TORCH syndrome type 2
Autosomal recessive
Antenatal, Neonatal
Pseudo-von Willebrand disease
Autosomal dominant
Adult
Pseudoachondroplasia
Autosomal dominant
Infancy, Neonatal
Pseudohypoaldosteronism type 1
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Pseudohypoaldosteronism type 2
Autosomal dominant, Autosomal recessive
All ages
Pseudohypoparathyroidism type 1A
Autosomal dominant
Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 1B
Autosomal dominant, Not applicable
Adolescent, Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 1C
Autosomal dominant
Childhood, Infancy, Neonatal
Pseudohypoparathyroidism type 2
Not applicable
All ages
Pseudomyogenic hemangioendothelioma
Pseudomyxoma peritonei
Unknown
Adult
Pseudopelade of Brocq
Not applicable
Adult
Pseudopseudohypoparathyroidism
Autosomal dominant
All ages