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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Familial benign flecked retina

ORPHA:363989Disease
Autosomal recessive

Familial calcium pyrophosphate deposition

ORPHA:1416Disease
Autosomal dominant, Not applicable

Familial cerebral saccular aneurysm

ORPHA:231160Disease
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Disease
Autosomal recessive

Familial cold urticaria

ORPHA:47045Disease
Autosomal dominant

Familial colorectal cancer Type X

ORPHA:440437Disease
Autosomal dominant

Familial congenital mirror movements

ORPHA:238722Disease
Autosomal dominant, Autosomal recessive

Familial congenital palsy of trochlear nerve

ORPHA:91498Disease

Familial cortical myoclonus

ORPHA:319189Disease
Autosomal dominant

Familial cutaneous collagenoma

ORPHA:53296Disease
Autosomal dominant

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

ORPHA:313846Disease
Autosomal dominant

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

ORPHA:300751Disease
Autosomal dominant

Familial drusen

ORPHA:75376Disease
Autosomal dominant

Familial dysautonomia

ORPHA:1764Disease
Autosomal recessive

Familial dyskinesia and facial myokymia

ORPHA:324588Disease
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Disease
Autosomal dominant

Familial episodic pain syndrome

ORPHA:391384Disease
Autosomal dominant

Familial expansile osteolysis

ORPHA:85195Disease
Autosomal dominant

Familial exudative vitreoretinopathy

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

Familial focal epilepsy with variable foci

ORPHA:98820Disease
Autosomal dominant

Familial gastric type 1 neuroendocrine tumor

ORPHA:464756Disease
Autosomal recessive

Familial generalized lentiginosis

ORPHA:231040Disease
Autosomal dominant, Unknown

Familial gestational hyperthyroidism

ORPHA:99819Disease
Autosomal dominant

Familial glucocorticoid deficiency

ORPHA:361Disease
Autosomal recessive