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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Familial Hyperalphalipoproteinemia

ORPHA:181428Bio anom.
Autosomal dominant

Familial LCAT deficiency

ORPHA:79293Clin. sub.
Autosomal recessive, Not applicable

Familial Mediterranean fever

ORPHA:342Disease
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Disease

Familial acute necrotizing encephalopathy

ORPHA:88619Disease
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Disease
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Disease
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Disease
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Disease
Autosomal dominant

Familial afibrinogenemia

ORPHA:98880Clin. sub.
Autosomal recessive

Familial anetoderma

ORPHA:228277Disease
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Disease

Familial apolipoprotein A5 deficiency

ORPHA:530849Etio. sub.
Autosomal recessive

Familial apolipoprotein C-II deficiency

ORPHA:309020Etio. sub.
Autosomal recessive

Familial articular hypermobility syndrome

ORPHA:2295Disease
Autosomal dominant

Familial atrial myxoma

ORPHA:615Disease
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Disease
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Disease
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Disease

Familial benign flecked retina

ORPHA:363989Disease
Autosomal recessive

Familial bicuspid aortic valve

ORPHA:402075Morph.
Autosomal dominant

Familial calcium pyrophosphate deposition

ORPHA:1416Disease
Autosomal dominant, Not applicable

Familial caudal dysgenesis

ORPHA:1768Malform.
Autosomal dominant

Familial cavitary optic disc anomaly

ORPHA:464760Morph.
Autosomal dominant