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Сирек (орфандық) аурулар
7,547 аурудың толық базасы: генетика, фенотиптер, эпидемиология, препараттар және зерттеулер.
7,547
Аурулар
4 552
Гендер
8 700
Фенотиптер
140
Аймақтар
Все (7,547)Био аномалияСанатКлиникалық топКлиникалық подтипClinical syndromeАуруЭтиологиялық подтипГистопатологиялық подтипМальформацияМорфологиялық аномалияКлиникалық жағдай
Non-specific early-onset epileptic encephalopathy
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Infancy, Neonatal
Non-specific syndromic intellectual disability
Autosomal dominant, Autosomal recessive, X-linked recessive
Childhood, Infancy
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Autosomal recessive
Infancy
Non-syndromic H-type fistula
Neonatal
Non-syndromic agammaglobulinemia
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Non-syndromic anal stenosis
Neonatal
Non-syndromic anorectal malformation
Antenatal, 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 and sagittal craniosynostosis
Autosomal recessive
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 craniosynostosis
Infancy, Neonatal
Non-syndromic hemimelia
Not applicable
Neonatal
Non-syndromic male infertility due to sperm motility disorder
Autosomal recessive
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