Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Progressive familial intrahepatic cholestasis type 5
Autosomal recessive
Neonatal
Progressive hemifacial atrophy
Not applicable
Adolescent, Adult, Childhood
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Autosomal recessive
Infancy
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal recessive
Infancy
Progressive multifocal leukoencephalopathy
Not applicable
All ages
Progressive muscular atrophy
Not applicable
Adult
Progressive myoclonic epilepsy
Adolescent, Childhood, Infancy, Neonatal
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 myoclonic epilepsy with neuroserpin inclusion bodies
Adult
Progressive nodular histiocytosis
Not applicable
Adolescent, Adult, Childhood
Progressive non-fluent aphasia
Multigenic/multifactorial, Not applicable
Adult
Progressive non-infectious anterior vertebral fusion
Not applicable
Childhood
Progressive osseous heteroplasia
Autosomal dominant
Childhood, Infancy
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