Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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
Argyria
Not applicable
All ages
Arnold-Chiari malformation type I
Unknown
Infancy, Neonatal
Aromatase deficiency
Autosomal recessive
All ages
Aromatase excess syndrome
Autosomal dominant
Adolescent, Childhood
Aromatic L-amino acid decarboxylase deficiency
Autosomal recessive
Infancy, Neonatal
Arterial dissection-lentiginosis syndrome
Unknown
Childhood
Arterial tortuosity syndrome
Autosomal recessive
Childhood, Infancy
Arthrochalasia Ehlers-Danlos syndrome
Autosomal dominant
Infancy, Neonatal
Arthrogryposis multiplex congenita
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Neonatal
Arthrogryposis multiplex congenita-whistling face syndrome
Autosomal recessive
Antenatal, Neonatal
Arthrogryposis-anterior horn cell disease syndrome
Autosomal recessive
Antenatal
Arthrogryposis-ectodermal dysplasia syndrome
Unknown
Infancy, Neonatal
Arthrogryposis-hyperkeratosis syndrome, lethal form
Unknown
Neonatal
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Unknown
Neonatal
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Arthrogryposis-renal dysfunction-cholestasis syndrome
Autosomal recessive
Neonatal
Arthrogryposis-severe scoliosis syndrome
Neonatal
Asbestos intoxication
All ages
Ascher syndrome
Not applicable
Neonatal