Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
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 spherocytosis
Autosomal dominant, Autosomal recessive
All ages
Hereditary steroid-resistant nephrotic syndrome
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
Hereditary thermosensitive neuropathy
Adolescent, Adult, Childhood
Hereditary thrombocytopenia with early-onset myelofibrosis
Autosomal dominant
Neonatal
Hereditary thrombocytopenia with normal platelets
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Hereditary thrombophilia due to congenital antithrombin deficiency
Autosomal dominant
Adolescent, Adult
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Autosomal dominant
Hereditary xanthinuria
Autosomal recessive
All ages
Hermansky-Pudlak syndrome
Autosomal recessive
Infancy, Neonatal
Herpes simplex virus encephalitis
Multigenic/multifactorial, Not applicable
All ages
Herpes simplex virus stromal keratitis
Not applicable
All ages
Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
Autosomal recessive
Hidrotic ectodermal dysplasia
Autosomal dominant
Childhood
High bone mass osteogenesis imperfecta
Autosomal dominant
Childhood
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
High myopia-sensorineural deafness syndrome
Autosomal recessive
Infancy, Neonatal
High-grade neuroendocrine carcinoma of the cervix uteri
Adult, Elderly
Hinman syndrome
All ages