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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Familial episodic pain syndrome

ORPHA:391384Ауру
Autosomal dominant

Familial episodic pain syndrome with predominantly lower limb involvement

ORPHA:391392Клин. под.
Autosomal dominant

Familial episodic pain syndrome with predominantly upper body involvement

ORPHA:391389Клин. под.
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Ауру
Autosomal dominant

Familial exudative vitreoretinopathy

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

Familial focal epilepsy with variable foci

ORPHA:98820Ауру
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Ауру
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Ауру
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Ауру
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Ауру
Autosomal recessive

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Ауру
Autosomal recessive

Familial hyperaldosteronism

ORPHA:235936Клин. топ
Autosomal dominant

Familial hyperaldosteronism type I

ORPHA:403Ауру
Autosomal dominant

Familial hyperaldosteronism type II

ORPHA:404Ауру
Autosomal dominant

Familial hyperaldosteronism type III

ORPHA:251274Ауру
Autosomal dominant

Familial hyperaldosteronism type IV

ORPHA:642671Ауру

Familial hypercholanemia

ORPHA:238475Ауру
Autosomal recessive

Familial hyperinflammatory lymphoproliferative immunodeficiency

ORPHA:619953Ауру
Autosomal recessive

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

ORPHA:306661Клин. под.
Autosomal recessive

Familial hyperprolactinemia

ORPHA:397685Ауру
Autosomal dominant

Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424Ауру
Autosomal dominant

Familial hypoaldosteronism

ORPHA:427Ауру
Autosomal recessive

Familial hypocalciuric hypercalcemia

ORPHA:405Ауру
Autosomal dominant

Familial hypocalciuric hypercalcemia type 1

ORPHA:93372Этио. под.
Autosomal dominant