Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Perrault syndrome
Autosomal recessive
Adolescent, Adult, Childhood
Perry syndrome
Autosomal dominant
Adult
Persistent hyperplastic primary vitreous
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Persistent idiopathic facial pain
Adult
Persistent placoid maculopathy
Adult, Elderly
Persistent polyclonal B-cell lymphocytosis
Multigenic/multifactorial
No data available
Peutz-Jeghers syndrome
Autosomal dominant
Adolescent, Adult, Childhood
Phacoanaphylactic uveitis
Not applicable
Adult
Phakomatosis pigmentovascularis
Not applicable
Neonatal
Phalangeal microgeodic syndrome
Not applicable
Childhood
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Multigenic/multifactorial, Not applicable
All ages
Phenylketonuria
Autosomal recessive
Infancy
Phosphoenolpyruvate carboxykinase deficiency
Autosomal recessive, Mitochondrial inheritance
Infancy, Neonatal
Phosphoribosylpyrophosphate synthetase superactivity
X-linked recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Photosensitive occipital lobe epilepsy
Adolescent, Adult, Childhood
Phyllodes tumor of the breast
Adult
Phyllodes tumor of the prostate
Adult, Elderly
Piebaldism
Autosomal dominant
Infancy, Neonatal
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Autosomal recessive
Infancy
Pigmented paravenous retinochoroidal atrophy
Autosomal dominant, Not applicable
All ages
Pili bifurcati
Childhood
Pili gemini
Adolescent, Adult, Childhood, Elderly
Pili torti
Autosomal recessive
Infancy, Neonatal
Pilocytic astrocytoma
Not applicable
All ages