Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Progressive hemifacial atrophy
Not applicable
Adolescent, Adult, Childhood
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Autosomal recessive
Infancy
Progressive multifocal leukoencephalopathy
Not applicable
All ages
Progressive muscular atrophy
Not applicable
Adult
Progressive myoclonic epilepsy type 1
Autosomal recessive
Adolescent, Childhood
Progressive myoclonic epilepsy type 3
Autosomal recessive
Childhood, Infancy
Progressive myoclonic epilepsy type 5
Autosomal dominant
Adolescent
Progressive myoclonic epilepsy type 6
Autosomal recessive
Childhood
Progressive myoclonic epilepsy type 7
Autosomal dominant
Childhood
Progressive myoclonic epilepsy type 8
Autosomal recessive
Adolescent, Childhood
Progressive myoclonic epilepsy type 9
Autosomal recessive
Childhood
Progressive myoclonic epilepsy with dystonia
Autosomal recessive
Infancy, Neonatal
Progressive nodular histiocytosis
Not applicable
Adolescent, Adult, Childhood
Progressive non-fluent aphasia
Multigenic/multifactorial, Not applicable
Adult
Progressive polyneuropathy with bilateral striatal necrosis
Autosomal recessive
Childhood
Progressive pseudorheumatoid dysplasia
Autosomal recessive
Childhood
Progressive retinal dystrophy due to retinol transport defect
Autosomal recessive
Childhood
Progressive scapulohumeroperoneal distal myopathy
Autosomal dominant
Childhood, Infancy
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Autosomal dominant
All ages
Progressive supranuclear palsy
Not applicable
Adult, Elderly
Progressive symmetric erythrokeratodermia
Autosomal dominant
Infancy, Neonatal
Prolactinoma
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Prolidase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
Proliferating trichilemmal cyst
Adult