MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Familial Hyperalphalipoproteinemia

ORPHA:181428Биоаномалия
Autosomal dominant

Familial LCAT deficiency

ORPHA:79293Клин. подтип
Autosomal recessive, Not applicable

Familial Mediterranean fever

ORPHA:342Заболевание
Autosomal dominant, Autosomal recessive

Familial abdominal aortic aneurysm

ORPHA:86Заболевание

Familial acute necrotizing encephalopathy

ORPHA:88619Заболевание
Autosomal dominant

Familial adenomatous polyposis

ORPHA:733Заболевание
Autosomal dominant, Autosomal recessive

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

ORPHA:95700Заболевание
Autosomal recessive

Familial adult myoclonic epilepsy

ORPHA:86814Заболевание
Autosomal dominant

Familial advanced sleep-phase syndrome

ORPHA:164736Заболевание
Autosomal dominant

Familial afibrinogenemia

ORPHA:98880Клин. подтип
Autosomal recessive

Familial anetoderma

ORPHA:228277Заболевание
Autosomal dominant, Autosomal recessive

Familial aortic dissection

ORPHA:229Заболевание

Familial apolipoprotein A5 deficiency

ORPHA:530849Этиол. подтип
Autosomal recessive

Familial apolipoprotein C-II deficiency

ORPHA:309020Этиол. подтип
Autosomal recessive

Familial articular hypermobility syndrome

ORPHA:2295Заболевание
Autosomal dominant

Familial atrial myxoma

ORPHA:615Заболевание
Autosomal dominant

Familial atypical multiple mole melanoma syndrome

ORPHA:404560Заболевание
Autosomal dominant

Familial avascular necrosis of femoral head

ORPHA:86820Заболевание
Autosomal dominant

Familial benign copper deficiency

ORPHA:1551Заболевание

Familial benign flecked retina

ORPHA:363989Заболевание
Autosomal recessive

Familial bicuspid aortic valve

ORPHA:402075Морф. аномалия
Autosomal dominant

Familial calcium pyrophosphate deposition

ORPHA:1416Заболевание
Autosomal dominant, Not applicable

Familial caudal dysgenesis

ORPHA:1768Мальформация
Autosomal dominant

Familial cavitary optic disc anomaly

ORPHA:464760Морф. аномалия
Autosomal dominant