Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hip dysplasia, Beukes type
Autosomal dominant
Childhood
Hirschsprung disease
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
Childhood, Infancy, Neonatal
His bundle tachycardia
Unknown
Infancy, Neonatal
Histidinemia
Autosomal recessive
Infancy, Neonatal
Histidinuria-renal tubular defect syndrome
Childhood, Infancy
Histiocytic sarcoma
Adult
Histiocytoid cardiomyopathy
Autosomal recessive, Unknown, X-linked dominant
Infancy, Neonatal
Hobnail hemangioma
All ages
Holmes-Adie syndrome
Not applicable
Adult
Holocarboxylase synthetase deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
Homocystinuria due to cystathionine beta-synthase deficiency
Autosomal recessive
Adolescent, Adult, Childhood
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Autosomal recessive
Infancy, Neonatal
Homocystinuria without methylmalonic aciduria
Autosomal recessive
All ages
Homozygous familial hypercholesterolemia
Autosomal dominant, Autosomal recessive
Neonatal
Homozygous hemoglobin O Arab disease
Autosomal recessive
Horizontal gaze palsy with progressive scoliosis
Autosomal recessive
Adolescent, Childhood
Hot water reflex epilepsy
Autosomal dominant
All ages
Hoyeraal-Hreidarsson syndrome
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Hughes-Stovin syndrome
Not applicable
Adult
Human infection by orthopoxvirus
Not applicable
All ages
Huntington disease
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Huntington disease-like 1
Autosomal dominant
Adult
Huntington disease-like 2
Autosomal dominant
Adult
Huntington disease-like 3
Autosomal recessive
Childhood