Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Secondary pulmonary alveolar proteinosis
Not applicable
Secondary sclerosing cholangitis
Not applicable
Secondary short bowel syndrome
Not applicable
All ages
Secondary syringomyelia
Adult
Segmental odontomaxillary dysplasia
Not applicable
Childhood
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Not applicable
Antenatal, Neonatal
Seizures-intellectual disability due to hydroxylysinuria syndrome
Autosomal recessive
Infancy
Seizures-scoliosis-macrocephaly syndrome
Autosomal recessive
Infancy
Selective IgM deficiency
All ages
Selective intrauterine growth restriction
Antenatal
Self-healing papular mucinosis
All ages
Self-improving collodion baby
Autosomal recessive
Neonatal
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 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
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
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Autosomal recessive
Adult