MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Familial hemophagocytic lymphohistiocytosis

ORPHA:540Kr.
Autosomal recessive

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 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 infantile bilateral striatal necrosis

ORPHA:225154Kr.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance

Familial infantile myoclonic epilepsy

ORPHA:352582Kr.
Autosomal recessive

Familial intraosseous vascular malformation

ORPHA:140436Kr.
Autosomal recessive

Familial isolated dilated cardiomyopathy

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

Familial isolated hyperparathyroidism

ORPHA:99879Kr.
Autosomal dominant

Familial isolated hypoparathyroidism

ORPHA:2238Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial isolated pituitary adenoma

ORPHA:314777Kr.
Autosomal dominant

Familial isolated restrictive cardiomyopathy

ORPHA:75249Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Familial isolated retinal arteriolar tortuosity

ORPHA:75326Kr.
Autosomal dominant, Not applicable

Familial isolated trichomegaly

ORPHA:411788Kr.
Autosomal recessive

Familial keratoacanthoma

ORPHA:493Kr.
Autosomal dominant

Familial melanoma

ORPHA:618Kr.
Autosomal dominant, Multigenic/multifactorial

Familial mesial temporal lobe epilepsy

ORPHA:163717Kr.
Autosomal dominant