MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Заболевание
Autosomal recessive

Familial hyperaldosteronism type I

ORPHA:403Заболевание
Autosomal dominant

Familial hyperaldosteronism type II

ORPHA:404Заболевание
Autosomal dominant

Familial hyperaldosteronism type III

ORPHA:251274Заболевание
Autosomal dominant

Familial hyperaldosteronism type IV

ORPHA:642671Заболевание

Familial hypercholanemia

ORPHA:238475Заболевание
Autosomal recessive

Familial hyperinflammatory lymphoproliferative immunodeficiency

ORPHA:619953Заболевание
Autosomal recessive

Familial hyperprolactinemia

ORPHA:397685Заболевание
Autosomal dominant

Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424Заболевание
Autosomal dominant

Familial hypoaldosteronism

ORPHA:427Заболевание
Autosomal recessive

Familial hypocalciuric hypercalcemia

ORPHA:405Заболевание
Autosomal dominant

Familial infantile bilateral striatal necrosis

ORPHA:225154Заболевание
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance

Familial infantile myoclonic epilepsy

ORPHA:352582Заболевание
Autosomal recessive

Familial intraosseous vascular malformation

ORPHA:140436Заболевание
Autosomal recessive

Familial isolated dilated cardiomyopathy

ORPHA:154Заболевание
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive

Familial isolated hyperparathyroidism

ORPHA:99879Заболевание
Autosomal dominant

Familial isolated hypoparathyroidism

ORPHA:2238Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial isolated pituitary adenoma

ORPHA:314777Заболевание
Autosomal dominant

Familial isolated restrictive cardiomyopathy

ORPHA:75249Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Familial isolated retinal arteriolar tortuosity

ORPHA:75326Заболевание
Autosomal dominant, Not applicable

Familial isolated trichomegaly

ORPHA:411788Заболевание
Autosomal recessive

Familial keratoacanthoma

ORPHA:493Заболевание
Autosomal dominant

Familial melanoma

ORPHA:618Заболевание
Autosomal dominant, Multigenic/multifactorial

Familial mesial temporal lobe epilepsy

ORPHA:163717Заболевание
Autosomal dominant