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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Non-specific early-onset epileptic encephalopathy

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

Non-specific syndromic intellectual disability

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

Non-spherocytic hemolytic anemia due to hexokinase deficiency

ORPHA:90031Disease
Autosomal recessive

Non-syndromic H-type fistula

ORPHA:601033Morph.

Non-syndromic agammaglobulinemia

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

Non-syndromic anal stenosis

ORPHA:601008Morph.

Non-syndromic anorectal malformation

ORPHA:557Clin. grp.

Non-syndromic anorectal malformation without fistula

ORPHA:601002Morph.

Non-syndromic bicoronal and metopic craniosynostosis

ORPHA:620198Morph.

Non-syndromic bicoronal and sagittal craniosynostosis

ORPHA:620205Morph.

Non-syndromic bicoronal craniosynostosis

ORPHA:35099Morph.
Autosomal dominant, Not applicable

Non-syndromic bilambdoid and sagittal craniosynostosis

ORPHA:1516Malform.
Autosomal recessive

Non-syndromic bilambdoid craniosynostosis

ORPHA:620178Morph.

Non-syndromic bridging bronchus

ORPHA:648992Morph.

Non-syndromic cloacal malformation

ORPHA:600998Morph.

Non-syndromic congenital bronchial atresia

ORPHA:649010Morph.

Non-syndromic craniosynostosis

ORPHA:139390Clin. grp.

Non-syndromic hemimelia

ORPHA:2130Clin. grp.
Not applicable

Non-syndromic male infertility due to sperm motility disorder

ORPHA:276234Disease
Autosomal recessive

Non-syndromic metopic and sagittal craniosynostosis

ORPHA:620192Morph.

Non-syndromic metopic craniosynostosis

ORPHA:3366Morph.
Autosomal dominant, Not applicable

Non-syndromic non-specific multisutural craniosynostosis

ORPHA:620158Morph.

Non-syndromic pansynostosis

ORPHA:620212Morph.

Non-syndromic perineal fistula

ORPHA:600952Morph.