Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Infantile Krabbe disease
Autosomal recessive
Infancy
Infantile glycine encephalopathy
Autosomal recessive
Infancy, Neonatal
Infantile hypophosphatasia
Autosomal recessive
Infancy, Neonatal
Infantile nephronophthisis
Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Infantile nephropathic cystinosis
Autosomal recessive
Infancy
Infantile systemic hyalinosis
Autosomal recessive
Infancy, Neonatal
Inhalational botulism
Adult
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Autosomal dominant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Autosomal dominant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Autosomal dominant
Intermediate maple syrup urine disease
Autosomal recessive
Infancy, Neonatal
Intermediate severe Salla disease
Autosomal recessive
Intermittent maple syrup urine disease
Autosomal recessive
Childhood, Infancy, Neonatal
Intestinal botulism
All ages
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Multigenic/multifactorial
Isolated anencephaly
Multigenic/multifactorial
Antenatal
Isolated congenitally uncorrected transposition of the great arteries
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Isolated duodenal duplication
Not applicable
Isolated epispadias
Multigenic/multifactorial
Antenatal, Infancy, Neonatal
Isolated exencephaly
Antenatal
Isolated focal cortical dysplasia type I
Isolated focal cortical dysplasia type II
Isolated growth hormone deficiency type IA
Autosomal recessive
Infancy, Neonatal