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 benign flecked retina

ORPHA:363989Kr.
Autosomal recessive

Familial calcium pyrophosphate deposition

ORPHA:1416Kr.
Autosomal dominant, Not applicable

Familial cerebral saccular aneurysm

ORPHA:231160Kr.
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Kr.
Autosomal recessive

Familial cold urticaria

ORPHA:47045Kr.
Autosomal dominant

Familial colorectal cancer Type X

ORPHA:440437Kr.
Autosomal dominant

Familial congenital mirror movements

ORPHA:238722Kr.
Autosomal dominant, Autosomal recessive

Familial congenital palsy of trochlear nerve

ORPHA:91498Kr.

Familial cortical myoclonus

ORPHA:319189Kr.
Autosomal dominant

Familial cutaneous collagenoma

ORPHA:53296Kr.
Autosomal dominant

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

ORPHA:313846Kr.
Autosomal dominant

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

ORPHA:300751Kr.
Autosomal dominant

Familial drusen

ORPHA:75376Kr.
Autosomal dominant

Familial dysautonomia

ORPHA:1764Kr.
Autosomal recessive

Familial dyskinesia and facial myokymia

ORPHA:324588Kr.
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Kr.
Autosomal dominant

Familial episodic pain syndrome

ORPHA:391384Kr.
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