Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
Autosomal recessive
Neuroectodermal melanolysosomal disease
Autosomal recessive
Childhood
Neurofaciodigitorenal syndrome
Antenatal, Neonatal
Neurofibromatosis-Noonan syndrome
Autosomal dominant
Infancy, Neonatal
Nicolaides-Baraitser syndrome
Autosomal dominant
Infancy, Neonatal
Night blindness-skeletal anomalies-dysmorphism syndrome
Childhood
Nijmegen breakage syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Nijmegen breakage syndrome-like disorder
Autosomal recessive
Neonatal
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Autosomal recessive
Infancy, Neonatal
Non-distal deletion 10q syndrome
Antenatal, Neonatal
Non-distal deletion 12q syndrome
Neonatal
Non-distal duplication 10q syndrome
Neonatal
Non-distal duplication 13q syndrome
Antenatal, Neonatal
Non-distal duplication 9q syndrome
Neonatal
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
No data available
Childhood
Non-syndromic bilambdoid and sagittal craniosynostosis
Autosomal recessive
Neonatal
Noonan syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Childhood, Infancy, Neonatal
Noonan syndrome with multiple lentigines
Autosomal dominant
Neonatal
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autosomal dominant
Infancy, Neonatal
Noonan syndrome-like disorder with loose anagen hair
Autosomal dominant
Antenatal, Infancy, Neonatal
Norrie disease
X-linked recessive
Antenatal, Neonatal
OBSOLETE: Cleft lip-retinopathy syndrome
Antenatal
OSLAM syndrome
Autosomal dominant
Neonatal
Occipital pachygyria and polymicrogyria
Autosomal recessive
Infancy, Neonatal