Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Conductive deafness-ptosis-skeletal anomalies syndrome
No data available
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Antenatal, Neonatal
Congenital cataract microcornea with corneal opacity
Autosomal recessive
Infancy, Neonatal
Congenital cataract-anterior segment dysgenesis syndrome
Autosomal dominant
Infancy, Neonatal
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Autosomal recessive
Infancy, Neonatal
Congenital contractural arachnodactyly
Autosomal dominant
Neonatal
Congenital ectropion uveae
Neonatal
Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
Autosomal dominant
Congenital heart defect-round face-developmental delay syndrome
Infancy, Neonatal
Congenital hydrocephalus
Not applicable
Antenatal
Congenital intrahepatic arterioportal fistula
Not applicable
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Autosomal recessive
Neonatal
Congenital laryngeal palsy
Neonatal
Congenital laryngomalacia
Infancy, Neonatal
Congenital left ventricular aneurysm
Antenatal, Neonatal
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Autosomal dominant
Antenatal, Neonatal
Congenital macroglossia
Neonatal
Congenital microcoria
Autosomal dominant
Infancy, Neonatal
Congenital muscular dystrophy, Fukuyama type
Autosomal recessive
Infancy
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Autosomal recessive
Antenatal, Neonatal
Congenital primary aphakia
Autosomal recessive
Antenatal, Infancy, Neonatal
Congenital pulmonary airway malformation
Not applicable
Adolescent, Adult, Antenatal, Neonatal
Congenital pulmonary sequestration
Neonatal
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Autosomal dominant