Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Postencephalitic parkinsonism
Adult, Elderly
Posterior amorphous corneal dystrophy
Autosomal dominant
Infancy, Neonatal
Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive
Childhood
Posterior cortical atrophy
Unknown
Adult
Posterior polymorphous corneal dystrophy
Autosomal dominant
Childhood
Postinfectious cerebellitis
All ages
Postinfectious vasculitis
Not applicable
All ages
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Autosomal recessive
Infancy
Postpartum psychosis
Not applicable
Adult
Postpoliomyelitis syndrome
Not applicable
Adolescent, Adult, Elderly
Postural orthostatic tachycardia syndrome due to NET deficiency
Autosomal dominant
Adult
PrP systemic amyloidosis
Autosomal dominant
Adult
Prader-Willi syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Pre-Descemet corneal dystrophy
Unknown
Adult
Precursor B-cell acute lymphoblastic leukemia
Not applicable
Childhood
Precursor T-cell acute lymphoblastic leukemia
Not applicable
Adolescent, Adult
Predisposition to invasive fungal disease due to CARD9 deficiency
Autosomal recessive
Predisposition to severe viral infection due to IRF7 deficiency
Autosomal recessive
All ages
Preeclampsia
Not applicable
Adult
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Autosomal recessive
Antenatal
Pressure-induced localized lipoatrophy
Adult, Elderly
Presumed ocular histoplasmosis syndrome
Not applicable
Primary CD59 deficiency
Autosomal recessive
Infancy, Neonatal
Primary Fanconi renotubular syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy