Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Autosomal recessive
Childhood, Infancy
Autoimmune hepatitis
Not applicable
Adolescent, Adult, Childhood, Elderly
Autoimmune hepatitis type 1
Adult
Autoimmune hepatitis type 2
Adolescent, Adult, Childhood
Autoimmune hypoparathyroidism
Not applicable
Adolescent, Adult, Childhood
Autoimmune interstitial lung disease-arthritis syndrome
Autosomal dominant
Childhood, Infancy
Autoimmune limbic encephalitis
All ages
Autoimmune lymphoproliferative syndrome
Autosomal dominant, Autosomal recessive
All ages
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autosomal dominant
Adolescent, Adult, Childhood
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Autosomal recessive
Childhood
Autoimmune pancreatitis
Not applicable
Autoimmune pancreatitis type 1
Not applicable
Adult
Autoimmune pancreatitis type 2
Not applicable
Adult
Autoimmune polyendocrinopathy type 1
Autosomal recessive
Adolescent, Childhood
Autoimmune polyendocrinopathy type 2
Adult
Autoimmune polyendocrinopathy type 3
Multigenic/multifactorial
All ages
Autoimmune polyendocrinopathy type 4
Multigenic/multifactorial
Adult
Autoimmune pulmonary alveolar proteinosis
Multigenic/multifactorial, Not applicable
Adolescent, Adult, Childhood
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autosomal dominant
Infancy, Neonatal
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autosomal recessive
Infancy, Neonatal
Autosomal dominant ACTN2-related distal myopathy
Autosomal dominant
Autosomal dominant Alport syndrome
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2
Autosomal dominant
All ages
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Autosomal dominant
Childhood