MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Мальформация
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Мальформация
Autosomal recessive

Cleft palate

ORPHA:2014Клин. группа
Multigenic/multifactorial, Not applicable

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

ORPHA:261190Клин. подтип
Not applicable, Unknown

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

ORPHA:652514Клин. подтип
Autosomal dominant

Cleft palate-large ears-small head syndrome

ORPHA:2013Мальформация

Cleft palate-lateral synechia syndrome

ORPHA:2016Мальформация
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Мальформация
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Мальформация
Autosomal recessive

Cleft velum

ORPHA:99772Морф. аномалия
Multigenic/multifactorial, Not applicable

Cleidocranial dysplasia

ORPHA:1452Мальформация
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Мальформация
Autosomal dominant

Cloacal exstrophy

ORPHA:93929Клин. подтип
Multigenic/multifactorial

Closed iniencephaly

ORPHA:268366Клин. подтип
Multigenic/multifactorial, Not applicable

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Мальформация

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Мальформация
Autosomal recessive

Coarctation of aorta

ORPHA:1457Морф. аномалия
Not applicable

Coats disease

ORPHA:190Заболевание
Not applicable

Coats plus syndrome

ORPHA:313838Заболевание
Autosomal recessive

Cobblestone lissencephaly

ORPHA:51577Клин. группа
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Заболевание
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Мальформация
Not applicable

Cocaine intoxication

ORPHA:90068Заболевание
Not applicable

Coccidioidomycosis

ORPHA:228123Заболевание
Not applicable