MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Familial Hyperalphalipoproteinemia

ORPHA:181428Bio-An.
Autosomal dominant

Familial LCAT deficiency

ORPHA:79293Kl. subt.
Autosomal recessive, Not applicable

Familial Mediterranean fever

ORPHA:342Kr.
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Kr.

Familial acute necrotizing encephalopathy

ORPHA:88619Kr.
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Kr.
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Kr.
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Kr.
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Kr.
Autosomal dominant

Familial afibrinogenemia

ORPHA:98880Kl. subt.
Autosomal recessive

Familial anetoderma

ORPHA:228277Kr.
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Kr.

Familial apolipoprotein A5 deficiency

ORPHA:530849Ätl. subt.
Autosomal recessive

Familial apolipoprotein C-II deficiency

ORPHA:309020Ätl. subt.
Autosomal recessive

Familial articular hypermobility syndrome

ORPHA:2295Kr.
Autosomal dominant

Familial atrial myxoma

ORPHA:615Kr.
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Kr.
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Kr.
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Kr.

Familial benign flecked retina

ORPHA:363989Kr.
Autosomal recessive

Familial bicuspid aortic valve

ORPHA:402075Morph.
Autosomal dominant

Familial calcium pyrophosphate deposition

ORPHA:1416Kr.
Autosomal dominant, Not applicable

Familial caudal dysgenesis

ORPHA:1768Malf.
Autosomal dominant

Familial cavitary optic disc anomaly

ORPHA:464760Morph.
Autosomal dominant