MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Familial hypocalciuric hypercalcemia type 2

ORPHA:101049Ätl. subt.
Autosomal dominant

Familial hypocalciuric hypercalcemia type 3

ORPHA:101050Ätl. subt.
Autosomal dominant

Familial hypodysfibrinogenemia

ORPHA:248408Kl. subt.
Autosomal dominant

Familial hypofibrinogenemia

ORPHA:101041Kl. subt.
Autosomal dominant

Familial idiopathic dilatation of the right atrium

ORPHA:1677Morph.
Unknown

Familial infantile bilateral striatal necrosis

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

Familial infantile myoclonic epilepsy

ORPHA:352582Kr.
Autosomal recessive

Familial intestinal malrotation

ORPHA:508410Morph.

Familial intraosseous vascular malformation

ORPHA:140436Kr.
Autosomal recessive

Familial isolated café-au-lait macules

ORPHA:2678Malf.
Autosomal dominant

Familial isolated congenital asplenia

ORPHA:101351Morph.
Autosomal dominant

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 hypoparathyroidism due to agenesis of parathyroid gland

ORPHA:2239Kl. subt.
Autosomal recessive, X-linked recessive

Familial isolated hypoparathyroidism due to impaired PTH secretion

ORPHA:189466Kl. subt.
Autosomal dominant, Autosomal 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 juvenile hypertrophy of the breast

ORPHA:180176Morph.
Not applicable

Familial keratoacanthoma

ORPHA:493Kr.
Autosomal dominant

Familial lipase maturation factor 1 deficiency

ORPHA:535453Ätl. subt.
Autosomal recessive

Familial lipoprotein lipase deficiency

ORPHA:309015Ätl. subt.
Autosomal dominant, Autosomal recessive