Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hereditary breast cancer
Autosomal dominant, Multigenic/multifactorial
Adult, Elderly
Hereditary bullous dystrophy, macular type
X-linked recessive
Neonatal
Hereditary butyrylcholinesterase deficiency
Autosomal recessive
Infancy, Neonatal
Hereditary cerebral amyloid angiopathy
Autosomal dominant
Adult
Hereditary clear cell renal cell carcinoma
Unknown
Adult
Hereditary combined deficiency of vitamin K-dependent clotting factors
Autosomal recessive
Adolescent, Adult, Infancy, Neonatal
Hereditary continuous muscle fiber activity
Autosomal dominant
Childhood, Infancy
Hereditary coproporphyria
Autosomal dominant
Adolescent, Adult
Hereditary cryohydrocytosis with normal stomatin
Autosomal dominant
Neonatal
Hereditary cryohydrocytosis with reduced stomatin
Autosomal dominant
Infancy, Neonatal
Hereditary diffuse gastric cancer
Autosomal dominant
Adult
Hereditary elliptocytosis
Autosomal dominant, Autosomal recessive
All ages
Hereditary episodic ataxia
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Autosomal dominant
Infancy
Hereditary folate malabsorption
Autosomal recessive
Infancy, Neonatal
Hereditary fructose intolerance
Autosomal recessive
All ages
Hereditary geniospasm
Autosomal dominant
Childhood
Hereditary gingival fibromatosis
Autosomal dominant
All ages
Hereditary hemorrhagic telangiectasia
Autosomal dominant
All ages
Hereditary hypercarotenemia and vitamin A deficiency
Autosomal dominant
Childhood, Infancy
Hereditary hyperekplexia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Hereditary hyperferritinemia-cataract syndrome
Autosomal dominant
All ages
Hereditary hypophosphatemic rickets with hypercalciuria
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Hereditary hypotrichosis with recurrent skin vesicles
Autosomal recessive
Infancy, Neonatal