Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Neonatal intrahepatic cholestasis due to citrin deficiency
Autosomal recessive
Infancy, Neonatal
Neonatal iodine exposure
Not applicable
Infancy, Neonatal
Neonatal lupus erythematosus
Not applicable
Neonatal
Neonatal renal venous thrombosis
Antenatal, Neonatal
Neonatal scleroderma
Neonatal
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Autosomal recessive
Infancy, Neonatal
Neonatal severe primary hyperparathyroidism
Autosomal recessive, Not applicable
Neonatal
Nephroblastoma
Autosomal dominant, Not applicable
Childhood
Nephrogenic syndrome of inappropriate antidiuresis
X-linked recessive
Childhood
Nephronophthisis
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Autosomal recessive
Adolescent
Netherton syndrome
Autosomal recessive
Infancy, Neonatal
Neuralgic amyotrophy
Autosomal dominant, Not applicable
Adult
Neuroblastoma
Not applicable
Adolescent, Antenatal, Childhood, Infancy, Neonatal
Neurocutaneous melanocytosis
Not applicable
Childhood
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Autosomal recessive
Infancy
Neurodegenerative syndrome due to cerebral folate transport deficiency
Autosomal recessive
Childhood
Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Autosomal recessive
Infancy
Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Neuroendocrine cell hyperplasia of infancy
Not applicable
Infancy, Neonatal
Neuroendocrine neoplasm of appendix
Adult
Neuroendocrine tumor of anal canal
Adult, Elderly
Neuroendocrine tumor of stomach
Not applicable
Adult, Elderly
Neuroendocrine tumor of the colon
Adult, Elderly