Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hepatitis delta
Not applicable
All ages
Hepatoblastoma
Not applicable
Childhood, Infancy, Neonatal
Hepatocellular adenoma
Adult, Elderly
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Autosomal recessive
Neonatal
Hepatoerythropoietic porphyria
Autosomal recessive
Childhood
Hepatosplenic T-cell lymphoma
Not applicable
Adolescent, Adult
Hereditary ATTR amyloidosis
Autosomal dominant
Hereditary acrokeratotic poikiloderma
Infancy, Neonatal
Hereditary amyloidosis with primary renal involvement
Autosomal dominant
All ages
Hereditary angioedema with C1Inh deficiency
Not applicable
Adult, Elderly
Hereditary angioedema with normal C1Inh
Not applicable
Hereditary arterial and articular multiple calcification syndrome
Autosomal recessive
Adult
Hereditary atrial fibrillation
Autosomal dominant
Adult, Elderly
Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Autosomal dominant
Adult
Hereditary benign intraepithelial dyskeratosis
Autosomal dominant
Infancy, Neonatal
Hereditary breast and/or ovarian cancer syndrome
Autosomal dominant
Adult, Elderly
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