MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Combined immunodeficiency due to CD3gamma deficiency

ORPHA:169082Заболевание
Autosomal recessive

Combined immunodeficiency due to COPG1 deficiency

ORPHA:718017Заболевание
Autosomal recessive

Combined immunodeficiency due to CRAC channel dysfunction

ORPHA:169090Заболевание
Autosomal recessive

Combined immunodeficiency due to DOCK2 deficiency

ORPHA:447737Заболевание
Autosomal recessive

Combined immunodeficiency due to DOCK8 deficiency

ORPHA:217390Заболевание
Autosomal recessive

Combined immunodeficiency due to FCHO1 deficiency

ORPHA:647804Заболевание
Autosomal recessive

Combined immunodeficiency due to FOXN1 haploinsufficiency

ORPHA:676039Заболевание
Autosomal dominant

Combined immunodeficiency due to GINS1 deficiency

ORPHA:505227Заболевание
Autosomal recessive

Combined immunodeficiency due to HELIOS deficiency

ORPHA:697389Заболевание
Autosomal dominant, Autosomal recessive

Combined immunodeficiency due to IKBKB deficiency

ORPHA:397787Заболевание
Autosomal recessive

Combined immunodeficiency due to IKBKB gain-of-function mutation

ORPHA:700205Заболевание
Autosomal dominant

Combined immunodeficiency due to IL21R deficiency

ORPHA:357329Заболевание
Autosomal recessive

Combined immunodeficiency due to ITK deficiency

ORPHA:538963Заболевание
Autosomal recessive

Combined immunodeficiency due to LCK deficiency

ORPHA:280142Заболевание
Autosomal recessive

Combined immunodeficiency due to MALT1 deficiency

ORPHA:397964Заболевание
Autosomal recessive

Combined immunodeficiency due to Moesin deficiency

ORPHA:504530Заболевание
X-linked recessive

Combined immunodeficiency due to OX40 deficiency

ORPHA:431149Заболевание
Autosomal recessive

Combined immunodeficiency due to RELA haploinsufficiency

ORPHA:596759Заболевание
Autosomal dominant

Combined immunodeficiency due to RELB deficiency

ORPHA:688594Заболевание
Autosomal recessive

Combined immunodeficiency due to STK4 deficiency

ORPHA:314689Заболевание
Autosomal recessive

Combined immunodeficiency due to TBX1 deficiency

ORPHA:685017Заболевание
Autosomal dominant

Combined immunodeficiency due to TFRC deficiency

ORPHA:476113Заболевание
Autosomal recessive

Combined immunodeficiency due to ZAP70 deficiency

ORPHA:911Заболевание
Autosomal recessive

Combined immunodeficiency due to c-REL deficiency

ORPHA:697394Заболевание
Autosomal recessive