Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Acute adrenal insufficiency
Autosomal recessive, Not applicable, X-linked dominant
All ages
Acute bilirubin encephalopathy
Neonatal
Acute liver failure
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Atypical Meigs syndrome
Not applicable
Adult
Balint syndrome
Not applicable
All ages
Baroreflex failure
Not applicable
All ages
Carcinoid syndrome
Not applicable
All ages
Cerebral visual impairment
Not applicable
Infancy, Neonatal
Chronic bilirubin encephalopathy
Not applicable
Infancy, Neonatal
Chronic intestinal failure
Not applicable
All ages
Chronic intestinal pseudoobstruction syndrome
All ages
Diffuse alveolar hemorrhage
Not applicable
Adolescent, Adult, Childhood, Elderly, Infancy
Early infantile developmental and epileptic encephalopathy
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Neonatal
Familial developmental dysphasia
Autosomal dominant
Childhood
Frey syndrome
Not applicable
Infancy
Grisel syndrome
Not applicable
Childhood
Idiopathic dropped head syndrome
Not applicable
All ages
Idiopathic non-lupus full-house nephropathy
All ages
Idiopathic steroid-resistant nephrotic syndrome
Adolescent, Adult, Childhood
Idiopathic steroid-sensitive nephrotic syndrome
Unknown
All ages
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
All ages
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Antenatal, Neonatal
Livedoid vasculopathy
Adolescent, Adult
Locked-in syndrome
Not applicable
All ages