MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Familial benign flecked retina

ORPHA:363989Заболевание
Autosomal recessive

Familial calcium pyrophosphate deposition

ORPHA:1416Заболевание
Autosomal dominant, Not applicable

Familial cerebral saccular aneurysm

ORPHA:231160Заболевание
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Заболевание
Autosomal recessive

Familial cold urticaria

ORPHA:47045Заболевание
Autosomal dominant

Familial colorectal cancer Type X

ORPHA:440437Заболевание
Autosomal dominant

Familial congenital mirror movements

ORPHA:238722Заболевание
Autosomal dominant, Autosomal recessive

Familial congenital palsy of trochlear nerve

ORPHA:91498Заболевание

Familial cortical myoclonus

ORPHA:319189Заболевание
Autosomal dominant

Familial cutaneous collagenoma

ORPHA:53296Заболевание
Autosomal dominant

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

ORPHA:313846Заболевание
Autosomal dominant

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

ORPHA:300751Заболевание
Autosomal dominant

Familial drusen

ORPHA:75376Заболевание
Autosomal dominant

Familial dysautonomia

ORPHA:1764Заболевание
Autosomal recessive

Familial dyskinesia and facial myokymia

ORPHA:324588Заболевание
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Заболевание
Autosomal dominant

Familial episodic pain syndrome

ORPHA:391384Заболевание
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Заболевание
Autosomal dominant

Familial exudative vitreoretinopathy

ORPHA:891Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Familial focal epilepsy with variable foci

ORPHA:98820Заболевание
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Заболевание
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Заболевание
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Заболевание
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Заболевание
Autosomal recessive