Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Epidermolysis bullosa simplex with mottled pigmentation
Autosomal dominant
Infancy, Neonatal
Epidermolysis bullosa simplex with muscular dystrophy
Autosomal recessive
Infancy, Neonatal
Epidermolysis bullosa simplex with pyloric atresia
Autosomal recessive
Neonatal
Epidermolytic nevus
All ages
Epidermolytic palmoplantar keratoderma
Autosomal dominant
Infancy, Neonatal
Epignathus
Not applicable
Antenatal, Neonatal
Epilepsy of infancy with migrating focal seizures
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Epilepsy with auditory features
Autosomal dominant
Adolescent, Adult, Childhood
Epilepsy with eyelid myoclonia
Unknown
Childhood
Epilepsy with myoclonic absences
Multigenic/multifactorial
Adolescent, Childhood, Infancy
Epilepsy with myoclonic-atonic seizures
Unknown
Childhood
Epilepsy with reading-induced seizures
Adolescent, Adult
Epilepsy-microcephaly-skeletal dysplasia syndrome
Autosomal recessive
Neonatal
Epilepsy-telangiectasia syndrome
Autosomal recessive
Childhood
Epileptic encephalopathy with global cerebral demyelination
Autosomal recessive
Neonatal
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Neonatal
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Autosomal recessive
Antenatal, Neonatal
Epiphysiolysis of the hip
Adolescent, Childhood
Episodic ataxia type 1
Autosomal dominant
Adolescent, Childhood
Episodic ataxia type 3
Autosomal dominant
All ages
Episodic ataxia type 4
Autosomal dominant
Adult
Episodic ataxia type 5
Autosomal dominant
All ages
Episodic ataxia type 6
Autosomal dominant
Childhood
Episodic ataxia type 7
Autosomal dominant
Childhood