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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Familial cerebral cavernous malformation

ORPHA:221061Malform.
Autosomal dominant

Familial cerebral saccular aneurysm

ORPHA:231160Disease
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Disease
Autosomal recessive

Familial clubfoot due to 17q23.1q23.2 microduplication

ORPHA:238578Etio. sub.
Autosomal dominant, Not applicable

Familial clubfoot due to 5q31 microdeletion

ORPHA:293144Etio. sub.
Not applicable

Familial clubfoot due to PITX1 point mutation

ORPHA:293150Etio. sub.
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Malform.
Autosomal dominant

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 nasolacrimal duct obstruction

ORPHA:451612Morph.
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 cylindromatosis

ORPHA:211Clin. sub.
Autosomal dominant

Familial developmental dysphasia

ORPHA:1799Clinical syndrome
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Malform.
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 dysfibrinogenemia

ORPHA:98881Clin. sub.
Autosomal dominant

Familial dyskinesia and facial myokymia

ORPHA:324588Disease
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Disease
Autosomal dominant