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
Neuroendocrine cell hyperplasia of infancy
Not applicable
Infancy, Neonatal
Neuroendocrine neoplasm
Unknown
Adult
Neuroendocrine neoplasm of appendix
Adult
Neuroendocrine tumor of anal canal
Adult, Elderly
Neuroendocrine tumor of pancreas
Autosomal dominant, Not applicable
Adult
Neuroendocrine tumor of stomach
Not applicable
Adult, Elderly
Neuroendocrine tumor of the colon
Adult, Elderly
Neuroendocrine tumor of the rectum
Adult
Neurofaciodigitorenal syndrome
Antenatal, Neonatal
Neuroferritinopathy
Autosomal dominant
Adult
Neurofibroma
Adult
Neurofibromatosis type 1
Autosomal dominant
Infancy, Neonatal
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Autosomal dominant
Infancy, Neonatal
Neurofibromatosis-Noonan syndrome
Autosomal dominant
Infancy, Neonatal
Neurogenic arthrogryposis multiplex congenita
Autosomal recessive
Neonatal
Neurogenic scapuloperoneal syndrome, Kaeser type
Autosomal dominant
Adult
Neurogenic thoracic outlet syndrome
Not applicable
All ages
Neuroleptic malignant syndrome
Unknown
All ages
Neurometabolic disorder due to serine deficiency
Infancy, Neonatal
Neuromyelitis optica spectrum disorder
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Neuronal ceroid lipofuscinosis
Autosomal dominant, Autosomal recessive
All ages
Neuronal intestinal pseudoobstruction
X-linked recessive
All ages