MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Familial episodic pain syndrome

ORPHA:391384Заболевание
Autosomal dominant

Familial episodic pain syndrome with predominantly lower limb involvement

ORPHA:391392Клин. подтип
Autosomal dominant

Familial episodic pain syndrome with predominantly upper body involvement

ORPHA:391389Клин. подтип
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Заболевание
Autosomal dominant

Familial exudative vitreoretinopathy

ORPHA:891Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial focal epilepsy with variable foci

ORPHA:98820Заболевание
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Заболевание
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Заболевание
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Заболевание
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Заболевание
Autosomal recessive

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Заболевание
Autosomal recessive

Familial hyperaldosteronism

ORPHA:235936Клин. группа
Autosomal dominant

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 hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

ORPHA:306661Клин. подтип
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 hypocalciuric hypercalcemia type 1

ORPHA:93372Этиол. подтип
Autosomal dominant