Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial cerebral cavernous malformation
Autosomal dominant
All ages
Familial cerebral saccular aneurysm
Autosomal dominant, Autosomal recessive
All ages
Familial chylomicronemia syndrome
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Familial clubfoot due to 17q23.1q23.2 microduplication
Autosomal dominant, Not applicable
Infancy, Neonatal
Familial clubfoot due to 5q31 microdeletion
Not applicable
Familial clubfoot due to PITX1 point mutation
Autosomal dominant
Familial clubfoot with or without associated lower limb anomalies
Autosomal dominant
Infancy, Neonatal
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 nasolacrimal duct obstruction
Autosomal recessive
Antenatal, Neonatal
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 cylindromatosis
Autosomal dominant
Adolescent, Adult
Familial developmental dysphasia
Autosomal dominant
Childhood
Familial digital arthropathy-brachydactyly
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 dysfibrinogenemia
Autosomal dominant
All ages
Familial dyskinesia and facial myokymia
Autosomal dominant
Childhood
Familial encephalopathy with neuroserpin inclusion bodies
Autosomal dominant
Adolescent, Adult, Childhood