Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial benign flecked retina
Autosomal recessive
Adult, Childhood
Familial calcium pyrophosphate deposition
Autosomal dominant, Not applicable
Adult
Familial cerebral saccular aneurysm
Autosomal dominant, Autosomal recessive
All ages
Familial chylomicronemia syndrome
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Familial cold urticaria
Autosomal dominant
Adolescent, Childhood, Infancy
Familial colorectal cancer Type X
Autosomal dominant
Adult, Elderly
Familial congenital mirror movements
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Familial congenital palsy of trochlear nerve
Neonatal
Familial cortical myoclonus
Autosomal dominant
Adult
Familial cutaneous collagenoma
Autosomal dominant
Adolescent
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Autosomal dominant
Infancy, Neonatal
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Autosomal dominant
Adult
Familial drusen
Autosomal dominant
Adult
Familial dysautonomia
Autosomal recessive
Childhood, Infancy, Neonatal
Familial dyskinesia and facial myokymia
Autosomal dominant
Childhood
Familial encephalopathy with neuroserpin inclusion bodies
Autosomal dominant
Adolescent, Adult, Childhood
Familial episodic pain syndrome
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