Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Neuroendocrine tumor of the rectum
Adult
Neuroferritinopathy
Autosomal dominant
Adult
Neurofibroma
Adult
Neurofibromatosis type 1
Autosomal dominant
Infancy, Neonatal
Neurogenic arthrogryposis multiplex congenita
Autosomal recessive
Neonatal
Neurogenic scapuloperoneal syndrome, Kaeser type
Autosomal dominant
Adult
Neuroleptic malignant syndrome
Unknown
All ages
Neuromyelitis optica spectrum disorder
Multigenic/multifactorial
Adolescent, Adult, Childhood, Elderly
Neuronal intranuclear inclusion disease
Autosomal dominant
Adolescent, Adult, Childhood, Infancy
Neurooculocardiogenitourinary syndrome
Autosomal dominant
Infancy, Neonatal
Neuropathy with hearing impairment
Autosomal dominant
Adult
Neurotrophic keratopathy
Not applicable
Adult, Childhood
Neutral lipid storage disease with ichthyosis
Autosomal recessive
Infancy, Neonatal
Neutral lipid storage disease with myopathy
Autosomal recessive
Adult
Neutropenia-monocytopenia-deafness syndrome
Unknown
Infancy, Neonatal
Nevus comedonicus syndrome
Not applicable
Childhood, Infancy, Neonatal
Nevus of Ito
Not applicable
All ages
Nevus of Ota
Not applicable
All ages
New-onset refractory status epilepticus
Adult
Niemann-Pick disease type C
Autosomal recessive
All ages
Nipah virus disease
All ages
Nocardiosis
Not applicable
All ages
Nodal marginal zone B-cell lymphoma
Not applicable
Adolescent, Adult, Elderly
Nodular fasciitis
Not applicable
All ages