Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial hemophagocytic lymphohistiocytosis
Autosomal recessive
Adolescent, Infancy
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 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 infantile bilateral striatal necrosis
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Infancy, Neonatal
Familial infantile myoclonic epilepsy
Autosomal recessive
Infancy, Neonatal
Familial intraosseous vascular malformation
Autosomal recessive
Familial isolated dilated cardiomyopathy
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
All ages
Familial isolated hyperparathyroidism
Autosomal dominant
Adult
Familial isolated hypoparathyroidism
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Familial isolated pituitary adenoma
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Familial isolated restrictive cardiomyopathy
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Familial isolated retinal arteriolar tortuosity
Autosomal dominant, Not applicable
Childhood
Familial isolated trichomegaly
Autosomal recessive
Neonatal
Familial keratoacanthoma
Autosomal dominant
All ages
Familial melanoma
Autosomal dominant, Multigenic/multifactorial
Adult
Familial mesial temporal lobe epilepsy
Autosomal dominant
Adolescent, Adult