Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial Hyperalphalipoproteinemia
Autosomal dominant
Familial LCAT deficiency
Autosomal recessive, Not applicable
All ages
Familial Mediterranean fever
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Familial abdominal aortic aneurysm
Adult, Elderly
Familial acute necrotizing encephalopathy
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Familial adenomatous polyposis
Autosomal dominant, Autosomal recessive
Adult
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Autosomal recessive
Infancy
Familial adult myoclonic epilepsy
Autosomal dominant
All ages
Familial advanced sleep-phase syndrome
Autosomal dominant
Adolescent, Childhood
Familial afibrinogenemia
Autosomal recessive
Infancy, Neonatal
Familial anetoderma
Autosomal dominant, Autosomal recessive
All ages
Familial aortic dissection
All ages
Familial apolipoprotein A5 deficiency
Autosomal recessive
Adult
Familial apolipoprotein C-II deficiency
Autosomal recessive
Adolescent, Childhood
Familial articular hypermobility syndrome
Autosomal dominant
Adolescent, Childhood, Infancy
Familial atrial myxoma
Autosomal dominant
Adolescent, Adult
Familial atypical multiple mole melanoma syndrome
Autosomal dominant
All ages
Familial avascular necrosis of femoral head
Autosomal dominant
Adult
Familial benign copper deficiency
Infancy
Familial benign flecked retina
Autosomal recessive
Adult, Childhood
Familial bicuspid aortic valve
Autosomal dominant
Infancy, Neonatal
Familial calcium pyrophosphate deposition
Autosomal dominant, Not applicable
Adult
Familial caudal dysgenesis
Autosomal dominant
Infancy, Neonatal
Familial cavitary optic disc anomaly
Autosomal dominant
Adolescent, Adult