MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Malf.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Malf.
Autosomal recessive

Cleft palate

ORPHA:2014Kl. gruppe
Multigenic/multifactorial, Not applicable

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

ORPHA:261190Kl. subt.
Not applicable, Unknown

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

ORPHA:652514Kl. subt.
Autosomal dominant

Cleft palate-large ears-small head syndrome

ORPHA:2013Malf.

Cleft palate-lateral synechia syndrome

ORPHA:2016Malf.
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Malf.
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Malf.
Autosomal recessive

Cleft velum

ORPHA:99772Morph.
Multigenic/multifactorial, Not applicable

Cleidocranial dysplasia

ORPHA:1452Malf.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Malf.
Autosomal dominant

Cloacal exstrophy

ORPHA:93929Kl. subt.
Multigenic/multifactorial

Closed iniencephaly

ORPHA:268366Kl. subt.
Multigenic/multifactorial, Not applicable

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Malf.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Malf.
Autosomal recessive

Coarctation of aorta

ORPHA:1457Morph.
Not applicable

Coats disease

ORPHA:190Kr.
Not applicable

Coats plus syndrome

ORPHA:313838Kr.
Autosomal recessive

Cobblestone lissencephaly

ORPHA:51577Kl. gruppe
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Kr.
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Malf.
Not applicable

Cocaine intoxication

ORPHA:90068Kr.
Not applicable

Coccidioidomycosis

ORPHA:228123Kr.
Not applicable