Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial hypocalciuric hypercalcemia type 2
Autosomal dominant
Familial hypocalciuric hypercalcemia type 3
Autosomal dominant
Familial hypodysfibrinogenemia
Autosomal dominant
Familial hypofibrinogenemia
Autosomal dominant
All ages
Familial idiopathic dilatation of the right atrium
Unknown
All ages
Familial infantile bilateral striatal necrosis
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Infancy, Neonatal
Familial infantile myoclonic epilepsy
Autosomal recessive
Infancy, Neonatal
Familial intestinal malrotation
All ages
Familial intraosseous vascular malformation
Autosomal recessive
Familial isolated café-au-lait macules
Autosomal dominant
Childhood
Familial isolated congenital asplenia
Autosomal dominant
Familial isolated dilated cardiomyopathy
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
All ages
Familial isolated hyperparathyroidism
Autosomal dominant
Adult
Familial isolated hypoparathyroidism
Autosomal dominant, Autosomal recessive, X-linked recessive
All ages
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Autosomal recessive, X-linked recessive
Infancy, Neonatal
Familial isolated hypoparathyroidism due to impaired PTH secretion
Autosomal dominant, Autosomal recessive
Familial isolated pituitary adenoma
Autosomal dominant
Adolescent, Adult, Childhood, Elderly, Infancy
Familial isolated restrictive cardiomyopathy
Autosomal dominant, Autosomal recessive, Not applicable
All ages
Familial isolated retinal arteriolar tortuosity
Autosomal dominant, Not applicable
Childhood
Familial isolated trichomegaly
Autosomal recessive
Neonatal
Familial juvenile hypertrophy of the breast
Not applicable
Familial keratoacanthoma
Autosomal dominant
All ages
Familial lipase maturation factor 1 deficiency
Autosomal recessive
Adult
Familial lipoprotein lipase deficiency
Autosomal dominant, Autosomal recessive
Childhood, Infancy