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

Autoimmune hypoparathyroidism

ORPHA:36913Заболевание
Not applicable

Autoimmune interstitial lung disease-arthritis syndrome

ORPHA:444092Заболевание
Autosomal dominant

Autoimmune limbic encephalitis

ORPHA:623615Заболевание

Autoimmune lymphoproliferative syndrome

ORPHA:3261Заболевание
Autosomal dominant, Autosomal recessive

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ORPHA:436159Заболевание
Autosomal dominant

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

ORPHA:275517Заболевание
Autosomal recessive

Autoimmune pancreatitis type 2

ORPHA:280315Заболевание
Not applicable

Autoimmune polyendocrinopathy type 1

ORPHA:3453Заболевание
Autosomal recessive

Autoimmune polyendocrinopathy type 2

ORPHA:3143Заболевание

Autoimmune polyendocrinopathy type 3

ORPHA:227982Заболевание
Multigenic/multifactorial

Autoimmune polyendocrinopathy type 4

ORPHA:227990Заболевание
Multigenic/multifactorial

Autoimmune pulmonary alveolar proteinosis

ORPHA:747Заболевание
Multigenic/multifactorial, Not applicable

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

ORPHA:324530Заболевание
Autosomal dominant

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

ORPHA:329173Заболевание
Autosomal recessive

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133Заболевание
Autosomal dominant

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

ORPHA:487814Заболевание
Autosomal dominant

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

ORPHA:324611Заболевание
Autosomal dominant

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

ORPHA:435819Заболевание
Autosomal dominant

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

ORPHA:401964Заболевание
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

ORPHA:99946Заболевание
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

ORPHA:99947Заболевание
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2B

ORPHA:99936Заболевание
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2C

ORPHA:99937Заболевание
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2D

ORPHA:99938Заболевание
Autosomal dominant