MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Malform.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Malform.
Autosomal recessive

Cleft palate

ORPHA:2014Clin. grp.
Multigenic/multifactorial, Not applicable

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

ORPHA:261190Clin. sub.
Not applicable, Unknown

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

ORPHA:652514Clin. sub.
Autosomal dominant

Cleft palate-large ears-small head syndrome

ORPHA:2013Malform.

Cleft palate-lateral synechia syndrome

ORPHA:2016Malform.
Autosomal dominant

Cleft palate-short stature-vertebral anomalies syndrome

ORPHA:2015Malform.
Autosomal dominant

Cleft palate-stapes fixation-oligodontia syndrome

ORPHA:2010Malform.
Autosomal recessive

Cleft velum

ORPHA:99772Morph.
Multigenic/multifactorial, Not applicable

Cleidocranial dysplasia

ORPHA:1452Malform.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Malform.
Autosomal dominant

Cloacal exstrophy

ORPHA:93929Clin. sub.
Multigenic/multifactorial

Closed iniencephaly

ORPHA:268366Clin. sub.
Multigenic/multifactorial, Not applicable

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Malform.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Malform.
Autosomal recessive

Coarctation of aorta

ORPHA:1457Morph.
Not applicable

Coats disease

ORPHA:190Disease
Not applicable

Coats plus syndrome

ORPHA:313838Disease
Autosomal recessive

Cobblestone lissencephaly

ORPHA:51577Clin. grp.
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Disease
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Malform.
Not applicable

Cocaine intoxication

ORPHA:90068Disease
Not applicable

Coccidioidomycosis

ORPHA:228123Disease
Not applicable