Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Ankylostomiasis
Not applicable
All ages
Annular atrophic lichen planus
Adult
Annular epidermolytic ichthyosis
Autosomal dominant
Infancy, Neonatal
Annular lichen planus
All ages
Anoctamin-5-related limb-girdle muscular dystrophy R12
Autosomal recessive
Adolescent, Adult, Childhood
Anterior cutaneous nerve entrapment syndrome
Not applicable
All ages
Anti-glomerular basement membrane disease
Not applicable
Adolescent, Adult, Elderly
Anti-p200 pemphigoid
Not applicable
Adult, Elderly
Antisynthetase syndrome
Not applicable
Adult, Elderly
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Autosomal recessive
Neonatal
Aplasia cutis-myopia syndrome
Autosomal recessive
Neonatal
Aplasia of lacrimal and salivary glands
Autosomal dominant
Aplastic anemia-intellectual disability-dwarfism syndrome
Infancy, Neonatal
Apnea of prematurity
Not applicable
Infancy, Neonatal
Apolipoprotein A-I deficiency
Autosomal dominant
All ages
Apparent mineralocorticoid excess
Autosomal recessive
Infancy, Neonatal
Aquagenic palmoplantar keratoderma
Adolescent, Adult, Childhood, Infancy
Arachnoiditis
Not applicable
All ages
Argentine hemorrhagic fever
All ages
Arginine vasopressin deficiency
Autosomal dominant, Autosomal recessive, X-linked dominant
Childhood
Arginine vasopressin resistance
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Infancy
Argininemia
Autosomal recessive
Childhood, Infancy
Argininosuccinic aciduria
Autosomal recessive
All ages