Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hereditary pheochromocytoma-paraganglioma
Autosomal dominant
Childhood
Hereditary progressive cardiac conduction defect
Autosomal dominant
Adult
Hereditary progressive mucinous histiocytosis
Autosomal dominant
Childhood
Hereditary pulmonary alveolar proteinosis
Autosomal recessive
Adolescent, Adult, Childhood, Elderly, Infancy
Hereditary renal hypouricemia
Autosomal recessive
All ages
Hereditary retinoblastoma
Autosomal dominant
Infancy, Neonatal
Hereditary sclerosing poikiloderma, Weary type
Childhood
Hereditary sensorimotor neuropathy with hyperelastic skin
Autosomal dominant
All ages
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive
Infancy
Hereditary sensory and autonomic neuropathy type 1
Autosomal dominant
All ages
Hereditary sensory and autonomic neuropathy type 1B
Autosomal dominant
Adult
Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive
Infancy, Neonatal
Hereditary sensory and autonomic neuropathy type 4
Autosomal recessive
Childhood, Infancy, Neonatal
Hereditary sensory and autonomic neuropathy type 5
Autosomal recessive
Infancy, Neonatal
Hereditary sensory and autonomic neuropathy type 6
Autosomal recessive
Infancy, Neonatal
Hereditary sensory and autonomic neuropathy type 7
Autosomal dominant
Infancy, Neonatal
Hereditary sensory and autonomic neuropathy type 8
Autosomal recessive
Neonatal
Hereditary sensory and autonomic neuropathy with deafness and global delay
Autosomal recessive
Childhood, Infancy
Hereditary sensory neuropathy-deafness-dementia syndrome
Autosomal dominant
Adolescent, Adult
Hereditary sick sinus syndrome
Autosomal dominant, Autosomal recessive
Adult, Elderly
Hereditary sodium channelopathy-related small fibers neuropathy
Autosomal dominant
No data available
Hereditary spastic paraplegia
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Hereditary spherocytosis
Autosomal dominant, Autosomal recessive
All ages
Hereditary steroid-resistant nephrotic syndrome
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal