Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Shwachman-Diamond syndrome
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Sialidosis
Autosomal recessive
All ages
Sialidosis type 1
Autosomal recessive
Adolescent, Childhood
Sialidosis type 2
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Sialuria
Autosomal dominant
Infancy
Sickle cell S-C disease
Autosomal recessive
All ages
Sickle cell S-D Punjab disease
Autosomal recessive
All ages
Sickle cell S-E disease
Autosomal recessive
All ages
Sickle cell S-Lepore disease
Sickle cell S-O Arab disease
Sickle cell S-other specified hemoglobin variant
Sickle cell anemia
Autosomal recessive
All ages
Sickle cell-beta plus-thalassemia
Autosomal recessive
Sickle cell-beta zero-thalassemia
Autosomal recessive
Sickle cell-beta-thalassemia disease
Autosomal recessive
All ages
Sideroblastic anemia
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive
All ages
Siegler-Brewer-Carey syndrome
Autosomal recessive
Infancy, Neonatal
Silent pituitary adenoma
Not applicable
Silent sinus syndrome
Not applicable
Adult
Sillence syndrome
Autosomal dominant
Infancy, Neonatal
Silver-Russell syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Silver-Russell syndrome due to 11p15 microduplication
Autosomal dominant, Not applicable
Antenatal, Neonatal
Silver-Russell syndrome due to 7p11.2p13 microduplication
Autosomal dominant, Not applicable
Infancy, Neonatal
Silver-Russell syndrome due to a point mutation
Autosomal dominant
Antenatal, Neonatal