MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Autoimmune hypoparathyroidism

ORPHA:36913Disease
Not applicable

Autoimmune interstitial lung disease-arthritis syndrome

ORPHA:444092Disease
Autosomal dominant

Autoimmune limbic encephalitis

ORPHA:623615Disease

Autoimmune lymphoproliferative syndrome

ORPHA:3261Disease
Autosomal dominant, Autosomal recessive

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ORPHA:436159Disease
Autosomal dominant

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

ORPHA:275517Disease
Autosomal recessive

Autoimmune pancreatitis type 2

ORPHA:280315Disease
Not applicable

Autoimmune polyendocrinopathy type 1

ORPHA:3453Disease
Autosomal recessive

Autoimmune polyendocrinopathy type 2

ORPHA:3143Disease

Autoimmune polyendocrinopathy type 3

ORPHA:227982Disease
Multigenic/multifactorial

Autoimmune polyendocrinopathy type 4

ORPHA:227990Disease
Multigenic/multifactorial

Autoimmune pulmonary alveolar proteinosis

ORPHA:747Disease
Multigenic/multifactorial, Not applicable

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

ORPHA:324530Disease
Autosomal dominant

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

ORPHA:329173Disease
Autosomal recessive

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

ORPHA:487814Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

ORPHA:324611Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

ORPHA:435819Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

ORPHA:401964Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

ORPHA:99946Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

ORPHA:99947Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2B

ORPHA:99936Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2C

ORPHA:99937Disease
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2D

ORPHA:99938Disease
Autosomal dominant