MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Familial episodic pain syndrome

ORPHA:391384Kr.
Autosomal dominant

Familial episodic pain syndrome with predominantly lower limb involvement

ORPHA:391392Kl. subt.
Autosomal dominant

Familial episodic pain syndrome with predominantly upper body involvement

ORPHA:391389Kl. subt.
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Kr.
Autosomal dominant

Familial exudative vitreoretinopathy

ORPHA:891Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial focal epilepsy with variable foci

ORPHA:98820Kr.
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Kr.
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Kr.
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Kr.
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Kr.
Autosomal recessive

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Kr.
Autosomal recessive

Familial hyperaldosteronism

ORPHA:235936Kl. gruppe
Autosomal dominant

Familial hyperaldosteronism type I

ORPHA:403Kr.
Autosomal dominant

Familial hyperaldosteronism type II

ORPHA:404Kr.
Autosomal dominant

Familial hyperaldosteronism type III

ORPHA:251274Kr.
Autosomal dominant

Familial hyperaldosteronism type IV

ORPHA:642671Kr.

Familial hypercholanemia

ORPHA:238475Kr.
Autosomal recessive

Familial hyperinflammatory lymphoproliferative immunodeficiency

ORPHA:619953Kr.
Autosomal recessive

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

ORPHA:306661Kl. subt.
Autosomal recessive

Familial hyperprolactinemia

ORPHA:397685Kr.
Autosomal dominant

Familial hyperthyroidism due to mutations in TSH receptor

ORPHA:424Kr.
Autosomal dominant

Familial hypoaldosteronism

ORPHA:427Kr.
Autosomal recessive

Familial hypocalciuric hypercalcemia

ORPHA:405Kr.
Autosomal dominant

Familial hypocalciuric hypercalcemia type 1

ORPHA:93372Ätl. subt.
Autosomal dominant