Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Self-improving dystrophic epidermolysis bullosa
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Self-limited childhood occipital epilepsy
Not applicable
Adolescent, Childhood, Infancy
Self-limited epilepsy with autonomic seizures
Self-limited epilepsy with centrotemporal spikes
Autosomal dominant
Childhood
Self-limited infantile epilepsy
Autosomal dominant
Infancy, Neonatal
Self-limited neonatal epilepsy
Autosomal dominant
Neonatal
Self-limited neonatal-infantile epilepsy
Autosomal dominant
Infancy, Neonatal
Semantic dementia
Multigenic/multifactorial, Not applicable
Adult
Semicircular canal dehiscence syndrome
Not applicable
All ages
Semilobar holoprosencephaly
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Senior-Boichis syndrome
Autosomal recessive
All ages
Senior-Loken syndrome
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Sensorineural deafness with dilated cardiomyopathy
Autosomal dominant
Childhood
Sensorineural hearing loss-early graying-essential tremor syndrome
Autosomal dominant
Adult
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
Autosomal recessive
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Autosomal recessive
Adult
Sepsis in premature infants
Not applicable
Neonatal
Septo-optic dysplasia spectrum
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal
Septopreoptic holoprosencephaly
Multigenic/multifactorial
Infancy, Neonatal
Serine biosynthesis pathway deficiency, infantile/juvenile form
Antenatal, Infancy, Neonatal
Seromucinous cystadenoma of childhood
Childhood
Seronegative autoimmune hepatitis
Adult
Serotonin syndrome
Not applicable
All ages