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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Порок
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Порок
Autosomal recessive

Cleft palate

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

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

ORPHA:261190Клин. подт.
Not applicable, Unknown

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

ORPHA:652514Клин. подт.
Autosomal dominant

Cleft palate-large ears-small head syndrome

ORPHA:2013Порок

Cleft palate-lateral synechia syndrome

ORPHA:2016Порок
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Порок
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Порок
Autosomal recessive

Cleft velum

ORPHA:99772Морф.
Multigenic/multifactorial, Not applicable

Cleidocranial dysplasia

ORPHA:1452Порок
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Порок
Autosomal dominant

Cloacal exstrophy

ORPHA:93929Клин. подт.
Multigenic/multifactorial

Closed iniencephaly

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

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Порок

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Порок
Autosomal recessive

Coarctation of aorta

ORPHA:1457Морф.
Not applicable

Coats disease

ORPHA:190Заболевание
Not applicable

Coats plus syndrome

ORPHA:313838Заболевание
Autosomal recessive

Cobblestone lissencephaly

ORPHA:51577Клин. гр.
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Заболевание
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Порок
Not applicable

Cocaine intoxication

ORPHA:90068Заболевание
Not applicable

Coccidioidomycosis

ORPHA:228123Заболевание
Not applicable