MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Familial cerebral cavernous malformation

ORPHA:221061Мальформация
Autosomal dominant

Familial cerebral saccular aneurysm

ORPHA:231160Заболевание
Autosomal dominant, Autosomal recessive

Familial chylomicronemia syndrome

ORPHA:444490Заболевание
Autosomal recessive

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

ORPHA:238578Этиол. подтип
Autosomal dominant, Not applicable

Familial clubfoot due to 5q31 microdeletion

ORPHA:293144Этиол. подтип
Not applicable

Familial clubfoot due to PITX1 point mutation

ORPHA:293150Этиол. подтип
Autosomal dominant

Familial clubfoot with or without associated lower limb anomalies

ORPHA:199315Мальформация
Autosomal dominant

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 nasolacrimal duct obstruction

ORPHA:451612Морф. аномалия
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 cylindromatosis

ORPHA:211Клин. подтип
Autosomal dominant

Familial developmental dysphasia

ORPHA:1799Clinical syndrome
Autosomal dominant

Familial digital arthropathy-brachydactyly

ORPHA:85169Мальформация
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 dysfibrinogenemia

ORPHA:98881Клин. подтип
Autosomal dominant

Familial dyskinesia and facial myokymia

ORPHA:324588Заболевание
Autosomal dominant

Familial encephalopathy with neuroserpin inclusion bodies

ORPHA:85110Заболевание
Autosomal dominant