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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Disease
Autosomal recessive

Familial hyperaldosteronism type I

ORPHA:403Disease
Autosomal dominant

Familial hyperaldosteronism type II

ORPHA:404Disease
Autosomal dominant

Familial hyperaldosteronism type III

ORPHA:251274Disease
Autosomal dominant

Familial hyperaldosteronism type IV

ORPHA:642671Disease

Familial hypercholanemia

ORPHA:238475Disease
Autosomal recessive

Familial hyperinflammatory lymphoproliferative immunodeficiency

ORPHA:619953Disease
Autosomal recessive

Familial hyperprolactinemia

ORPHA:397685Disease
Autosomal dominant

Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424Disease
Autosomal dominant

Familial hypoaldosteronism

ORPHA:427Disease
Autosomal recessive

Familial hypocalciuric hypercalcemia

ORPHA:405Disease
Autosomal dominant

Familial infantile bilateral striatal necrosis

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

Familial infantile myoclonic epilepsy

ORPHA:352582Disease
Autosomal recessive

Familial intraosseous vascular malformation

ORPHA:140436Disease
Autosomal recessive

Familial isolated dilated cardiomyopathy

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

Familial isolated hyperparathyroidism

ORPHA:99879Disease
Autosomal dominant

Familial isolated hypoparathyroidism

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

Familial isolated pituitary adenoma

ORPHA:314777Disease
Autosomal dominant

Familial isolated restrictive cardiomyopathy

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

Familial isolated retinal arteriolar tortuosity

ORPHA:75326Disease
Autosomal dominant, Not applicable

Familial isolated trichomegaly

ORPHA:411788Disease
Autosomal recessive

Familial keratoacanthoma

ORPHA:493Disease
Autosomal dominant

Familial melanoma

ORPHA:618Disease
Autosomal dominant, Multigenic/multifactorial

Familial mesial temporal lobe epilepsy

ORPHA:163717Disease
Autosomal dominant