Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital short bowel syndrome
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Congenital sialidosis type 2
Autosomal recessive
Infancy, Neonatal
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Autosomal recessive
Infancy, Neonatal
Congenital smooth muscle hamartoma
Not applicable
Infancy, Neonatal
Congenital sodium diarrhea
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Congenital stationary night blindness
Autosomal dominant, Autosomal recessive, X-linked recessive
Neonatal
Congenital stationary night blindness, Riggs type
Autosomal dominant, Autosomal recessive
Congenital stationary night blindness, Schubert-Bornschein type
Autosomal recessive, X-linked recessive
Congenital stromal corneal dystrophy
Autosomal dominant
Neonatal
Congenital subglottic stenosis
Neonatal
Congenital sucrase-isomaltase deficiency
Autosomal recessive
Adolescent, Adult, Childhood, Infancy
Congenital symblepharon
Antenatal, Neonatal
Congenital syphilis
Not applicable
Antenatal, Neonatal
Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
Autosomal recessive
Congenital thrombotic thrombocytopenic purpura
Autosomal recessive
Adult, Childhood, Infancy, Neonatal
Congenital total pulmonary venous return anomaly
Not applicable
Neonatal
Congenital toxoplasmosis
Not applicable
Antenatal, Infancy, Neonatal
Congenital tracheal stenosis
Not applicable
Infancy, Neonatal
Congenital tracheomalacia
No data available
Infancy
Congenital tricuspid stenosis
Infancy, Neonatal
Congenital tricuspid valve dysplasia
Antenatal, Neonatal
Congenital trigeminal anesthesia
Not applicable
Infancy, Neonatal
Congenital trochlear nerve palsy
Not applicable
Neonatal
Congenital tufting enteropathy
Autosomal recessive
Infancy, Neonatal