Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Paternal uniparental disomy of chromosome 13 syndrome
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 20 syndrome
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 21 syndrome
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 5 syndrome
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 6 syndrome
Antenatal, Neonatal
Paternal uniparental disomy of chromosome 7 syndrome
Childhood, Infancy
Paternal uniparental disomy of chromosome X syndrome
Neonatal
Pattern dystrophy
Autosomal dominant, Autosomal recessive
Adult
Patterson-Stevenson-Fontaine syndrome
Autosomal dominant
Antenatal, Neonatal
Pauci-immune glomerulonephritis
Not applicable
Adolescent, Adult, Childhood, Elderly
Pauci-immune glomerulonephritis with ANCA
Not applicable
Adult, Elderly
Pauci-immune glomerulonephritis without ANCA
Not applicable
Adolescent, Adult, Childhood
Pearson syndrome
Mitochondrial inheritance, Not applicable
Childhood, Infancy, Neonatal
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Unknown
Neonatal
Pediatric acute respiratory distress syndrome
Pediatric arterial ischemic stroke
Not applicable
Adolescent, Childhood, Infancy, Neonatal
Pediatric collagenous gastritis
Adolescent, Childhood, Infancy
Pediatric hepatocellular carcinoma
Not applicable
Adolescent, Childhood
Pediatric multiple sclerosis
Adolescent, Childhood
Pediatric systemic lupus erythematosus
Not applicable
Adolescent, Childhood, Infancy, Neonatal
Pediatric-onset Graves disease
Adolescent, Childhood, Infancy
Pediatric-onset glaucoma
Adolescent, Childhood, Infancy, Neonatal
Pediatric-onset glaucoma of genetic origin
Autosomal dominant, Autosomal recessive
Childhood
Peeling skin syndrome
Autosomal recessive
Infancy, Neonatal