Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Autosomal recessive
Infancy, Neonatal
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Autosomal recessive
Infancy, Neonatal
Congenital agenesis of the scrotum
Neonatal
Congenital alpha2-antiplasmin deficiency
Autosomal recessive
Childhood
Congenital alveolar capillary dysplasia
Autosomal dominant
Infancy, Neonatal
Congenital amegakaryocytic thrombocytopenia
Autosomal recessive
Neonatal
Congenital analbuminemia
Autosomal recessive
Antenatal, Infancy, Neonatal
Congenital aortic valve stenosis
Infancy, Neonatal
Congenital aortopulmonary window
Congenital atransferrinemia
Autosomal recessive
Childhood, Infancy
Congenital autosomal recessive small-platelet thrombocytopenia
Autosomal recessive
Neonatal
Congenital axonal neuropathy with encephalopathy
Neonatal
Congenital bilateral absence of vas deferens
Multigenic/multifactorial
Adolescent, Adult
Congenital bile acid synthesis defect type 1
Autosomal recessive
Infancy, Neonatal
Congenital bile acid synthesis defect type 2
Autosomal recessive
Infancy, Neonatal
Congenital bile acid synthesis defect type 3
Autosomal recessive
Infancy, Neonatal
Congenital bile acid synthesis defect type 4
Autosomal recessive
All ages
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Antenatal, Neonatal
Congenital brain dysgenesis due to glutamine synthetase deficiency
Autosomal recessive
Infancy, Neonatal
Congenital cataract microcornea with corneal opacity
Autosomal recessive
Infancy, Neonatal
Congenital cataract-anterior segment dysgenesis syndrome
Autosomal dominant
Infancy, Neonatal
Congenital cataract-hearing loss-severe developmental delay syndrome
Autosomal recessive
Infancy, Neonatal
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Autosomal recessive
Infancy, Neonatal
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Autosomal recessive
Infancy, Neonatal