Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Non-syndromic rectourethral fistula
Neonatal
Non-syndromic rectovaginal fistula
Neonatal
Non-syndromic rectovesical fistula
Neonatal
Non-syndromic sagittal craniosynostosis
Autosomal dominant, Not applicable
Infancy, Neonatal
Non-syndromic unicoronal and sagittal craniosynostosis
Neonatal
Non-syndromic unicoronal craniosynostosis
Neonatal
Non-syndromic unifrontosphenoidal craniosynostosis
Neonatal
Non-syndromic unilambdoid craniosynostosis
Neonatal
Non-syndromic unisquamosal craniosynostosis
Neonatal
Non-syndromic vestibular fistula
Neonatal
Oligodontia
Autosomal dominant, Autosomal recessive, X-linked recessive
Childhood
Oligomeganephronia
Multigenic/multifactorial
All ages
Omphalocele
Not applicable
Antenatal
Open spinal dysraphism with a myelomeningocele
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Paramedian nasal cleft
Antenatal, Neonatal
Paraspinal arteriovenous malformation
Not applicable
Partial atrioventricular septal defect
Not applicable
All ages
Partial pancreatic agenesis
Autosomal recessive
Infancy, Neonatal
Patent urachus
Not applicable
Neonatal
Pelvic arteriovenous malformation
Not applicable
Penile agenesis
Antenatal, Neonatal
Penoscrotal transposition
Autosomal recessive, Not applicable, X-linked recessive
Infancy, Neonatal
Peters anomaly
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Pituitary stalk interruption syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Childhood