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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Disease
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Disease
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Disease
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Disease
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Disease
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Disease
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Disease
Autosomal dominant

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Disease
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Disease
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Disease
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Disease
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Disease
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Disease
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Disease
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Disease
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Disease
X-linked recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Disease
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Disease
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Disease
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Disease
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Disease
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Disease
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Disease
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Disease
Autosomal recessive