Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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 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 Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant
Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant
Childhood, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant
Childhood
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant
Adolescent, Adult
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant
Adolescent, Adult