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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Non-specific early-onset epileptic encephalopathy

ORPHA:442835Заболевание
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Non-specific syndromic intellectual disability

ORPHA:528084Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Non-spherocytic hemolytic anemia due to hexokinase deficiency

ORPHA:90031Заболевание
Autosomal recessive

Non-syndromic H-type fistula

ORPHA:601033Морф.

Non-syndromic agammaglobulinemia

ORPHA:229717Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Non-syndromic anal stenosis

ORPHA:601008Морф.

Non-syndromic anorectal malformation

ORPHA:557Клин. гр.

Non-syndromic anorectal malformation without fistula

ORPHA:601002Морф.

Non-syndromic bicoronal and metopic craniosynostosis

ORPHA:620198Морф.

Non-syndromic bicoronal and sagittal craniosynostosis

ORPHA:620205Морф.

Non-syndromic bicoronal craniosynostosis

ORPHA:35099Морф.
Autosomal dominant, Not applicable

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Порок
Autosomal recessive

Non-syndromic bilambdoid craniosynostosis

ORPHA:620178Морф.

Non-syndromic bridging bronchus

ORPHA:648992Морф.

Non-syndromic cloacal malformation

ORPHA:600998Морф.

Non-syndromic congenital bronchial atresia

ORPHA:649010Морф.

Non-syndromic craniosynostosis

ORPHA:139390Клин. гр.

Non-syndromic hemimelia

ORPHA:2130Клин. гр.
Not applicable

Non-syndromic male infertility due to sperm motility disorder

ORPHA:276234Заболевание
Autosomal recessive

Non-syndromic metopic and sagittal craniosynostosis

ORPHA:620192Морф.

Non-syndromic metopic craniosynostosis

ORPHA:3366Морф.
Autosomal dominant, Not applicable

Non-syndromic non-specific multisutural craniosynostosis

ORPHA:620158Морф.

Non-syndromic pansynostosis

ORPHA:620212Морф.

Non-syndromic perineal fistula

ORPHA:600952Морф.