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Редкие (орфанные) заболевания
Полная база 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, препаратами и исследованиями.
7,547
Заболевания
4 552
Гены
8 700
Фенотипы
140
Регионы
Все (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Multifocal sporadic venous malformation
Not applicable
Multiloculated renal cyst
Adult, Elderly, Infancy
Nasolacrimal duct cyst
Not applicable
Adult, Infancy, Neonatal
Neurenteric cyst
Infancy, Neonatal
Nodular neuronal heterotopia
Autosomal dominant, Autosomal recessive, X-linked dominant
All ages
Non-syndromic H-type fistula
Neonatal
Non-syndromic anal stenosis
Neonatal
Non-syndromic anorectal malformation without fistula
Neonatal
Non-syndromic bicoronal and metopic craniosynostosis
Neonatal
Non-syndromic bicoronal and sagittal craniosynostosis
Neonatal
Non-syndromic bicoronal craniosynostosis
Autosomal dominant, Not applicable
Infancy, Neonatal
Non-syndromic bilambdoid craniosynostosis
Neonatal
Non-syndromic bridging bronchus
Antenatal, Infancy, Neonatal
Non-syndromic cloacal malformation
Neonatal
Non-syndromic congenital bronchial atresia
Adult
Non-syndromic metopic and sagittal craniosynostosis
Neonatal
Non-syndromic metopic craniosynostosis
Autosomal dominant, Not applicable
Infancy, Neonatal
Non-syndromic non-specific multisutural craniosynostosis
Neonatal
Non-syndromic pansynostosis
Neonatal
Non-syndromic perineal fistula
Neonatal
Non-syndromic posterior hypospadias
Multigenic/multifactorial, X-linked recessive
Antenatal, Neonatal
Non-syndromic pouch colon
Neonatal
Non-syndromic rectal atresia
Neonatal
Non-syndromic rectal stenosis
Neonatal