Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hepatoblastoma
Not applicable
Childhood, Infancy, Neonatal
Hepatocellular adenoma
Adult, Elderly
Hepatocellular carcinoma
Not applicable
All ages
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Autosomal recessive
Neonatal
Hepatoerythropoietic porphyria
Autosomal recessive
Childhood
Hepatoportal sclerosis
All ages
Hepatosplenic T-cell lymphoma
Not applicable
Adolescent, Adult
Hereditary ATTR amyloidosis
Autosomal dominant
Hereditary North American Indian childhood cirrhosis
Autosomal recessive
Infancy, Neonatal
Hereditary acrokeratotic poikiloderma
Infancy, Neonatal
Hereditary amyloidosis with primary renal involvement
Autosomal dominant
All ages
Hereditary angioedema
Autosomal dominant
All ages
Hereditary angioedema type 1
Autosomal dominant
All ages
Hereditary angioedema type 2
Autosomal dominant
All ages
Hereditary angioedema with C1Inh deficiency
Not applicable
Adult, Elderly
Hereditary angioedema with normal C1Inh
Not applicable
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Autosomal dominant
Hereditary arginine vasopressin deficiency
Autosomal dominant, Autosomal recessive, X-linked dominant
Childhood
Hereditary arterial and articular multiple calcification syndrome
Autosomal recessive
Adult
Hereditary ataxia
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