MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Familial cerebral cavernous malformation

ORPHA:221061Malf.
Autosomal dominant

Familial cerebral saccular aneurysm

ORPHA:231160Kr.
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Kr.
Autosomal recessive

Familial clubfoot due to 17q23.1q23.2 microduplication

ORPHA:238578Ätl. subt.
Autosomal dominant, Not applicable

Familial clubfoot due to 5q31 microdeletion

ORPHA:293144Ätl. subt.
Not applicable

Familial clubfoot due to PITX1 point mutation

ORPHA:293150Ätl. subt.
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Malf.
Autosomal dominant

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 nasolacrimal duct obstruction

ORPHA:451612Morph.
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 cylindromatosis

ORPHA:211Kl. subt.
Autosomal dominant

Familial developmental dysphasia

ORPHA:1799Clinical syndrome
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Malf.
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 dysfibrinogenemia

ORPHA:98881Kl. subt.
Autosomal dominant

Familial dyskinesia and facial myokymia

ORPHA:324588Kr.
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Kr.
Autosomal dominant