Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Primary localized amyloidosis
Not applicable
Primary megaureter, adult-onset form
Unknown
Adult
Primary plasmacytoma of the bone
Primary polyarteritis nodosa
Not applicable
Primary systemic amyloidosis
Not applicable
Progeroid syndrome, Petty type
Autosomal dominant
Neonatal
Progressive dementia with neuroserpin inclusion bodies
Autosomal dominant
Adult, Elderly
Progressive encephalomyelitis with rigidity and myoclonus
Not applicable
Adult, Infancy
Progressive familial intrahepatic cholestasis type 1
Autosomal recessive
Infancy, Neonatal
Progressive familial intrahepatic cholestasis type 2
Autosomal recessive
Infancy, Neonatal
Progressive familial intrahepatic cholestasis type 3
Autosomal recessive
All ages
Progressive familial intrahepatic cholestasis type 4
Autosomal recessive
Childhood, Infancy
Progressive familial intrahepatic cholestasis type 5
Autosomal recessive
Neonatal
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
Adult
Progressive supranuclear palsy-corticobasal syndrome
Not applicable
Adult
Progressive supranuclear palsy-predominant parkinsonism syndrome
Not applicable
Adult
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Not applicable
Adult
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Not applicable
Adult
Proteus-like syndrome
Autosomal dominant
Infancy, Neonatal
Protracted juvenile CLN3 disease
Autosomal recessive
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