Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
Autosomal recessive
Infancy, Neonatal
Neonatal glycine encephalopathy
Autosomal recessive
Infancy, Neonatal
Neonatal hemochromatosis
Autosomal recessive
Neonatal
Neonatal hypoxic and ischemic brain injury
Not applicable
Infancy, Neonatal
Neonatal ichthyosis-sclerosing cholangitis syndrome
Autosomal recessive
Neonatal
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
Neovascular glaucoma
Not applicable
Adult, Elderly
Nephroblastoma
Autosomal dominant, Not applicable
Childhood
Nephrogenic syndrome of inappropriate antidiuresis
X-linked recessive
Childhood
Nephronophthisis
Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Nephropathy-deafness-hyperparathyroidism syndrome
Autosomal recessive
Childhood
Nephrosis-deafness-urinary tract-digital malformations syndrome
Unknown
Infancy, Neonatal
Nephrotic syndrome without extrarenal manifestations
All ages
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Autosomal recessive
Adolescent
Nestor-Guillermo progeria syndrome
Autosomal recessive
Childhood
Netherton syndrome
Autosomal recessive
Infancy, Neonatal
Neu-Laxova syndrome
Autosomal recessive
Antenatal
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Autosomal recessive