Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial episodic pain syndrome
Autosomal dominant
Infancy, Neonatal
Familial episodic pain syndrome with predominantly lower limb involvement
Autosomal dominant
Infancy, Neonatal
Familial episodic pain syndrome with predominantly upper body involvement
Autosomal dominant
Infancy, Neonatal
Familial expansile osteolysis
Autosomal dominant
Adolescent, Adult, Childhood
Familial exudative vitreoretinopathy
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Familial focal epilepsy with variable foci
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Familial gastric type 1 neuroendocrine tumor
Autosomal recessive
Adult
Familial generalized lentiginosis
Autosomal dominant, Unknown
All ages
Familial gestational hyperthyroidism
Autosomal dominant
Adolescent, Adult
Familial glucocorticoid deficiency
Autosomal recessive
Childhood, Infancy
Familial hemophagocytic lymphohistiocytosis
Autosomal recessive
Adolescent, Infancy
Familial hyperaldosteronism
Autosomal dominant
All ages
Familial hyperaldosteronism type I
Autosomal dominant
Adolescent, Adult, Childhood
Familial hyperaldosteronism type II
Autosomal dominant
Adult
Familial hyperaldosteronism type III
Autosomal dominant
Adolescent, Childhood, Infancy
Familial hyperaldosteronism type IV
Adult, Childhood
Familial hypercholanemia
Autosomal recessive
Infancy, Neonatal
Familial hyperinflammatory lymphoproliferative immunodeficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Autosomal recessive
Familial hyperprolactinemia
Autosomal dominant
Adult
Familial hyperthyroidism due to mutations in TSH receptor
Autosomal dominant
All ages
Familial hypoaldosteronism
Autosomal recessive
Adolescent, Adult, Infancy, Neonatal
Familial hypocalciuric hypercalcemia
Autosomal dominant
All ages
Familial hypocalciuric hypercalcemia type 1
Autosomal dominant
All ages