MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Cleft lip/palate-ectodermal dysplasia syndrome

ORPHA:3253Malf.
Autosomal recessive

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

ORPHA:2001Malf.
Autosomal recessive

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

Cleidocranial dysplasia

ORPHA:1452Malf.
Autosomal dominant, Not applicable

Cleidorhizomelic syndrome

ORPHA:1453Malf.
Autosomal dominant

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

ORPHA:100978Malf.

Cloverleaf skull-multiple congenital anomalies syndrome

ORPHA:93267Malf.
Autosomal recessive

Cocaine embryofetopathy

ORPHA:1911Malf.
Not applicable

Cochleosaccular degeneration-cataract syndrome

ORPHA:3233Malf.

Coffin-Lowry syndrome

ORPHA:192Malf.
X-linked dominant

Coffin-Siris syndrome

ORPHA:1465Malf.
Autosomal dominant

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

ORPHA:444077Malf.
Autosomal dominant, Not applicable

Cohen syndrome

ORPHA:193Malf.
Autosomal recessive

Cohen-Gibson syndrome

ORPHA:659396Malf.
Autosomal dominant

Cole-Carpenter syndrome

ORPHA:2050Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Coloboma of macula-brachydactyly type B syndrome

ORPHA:1471Malf.
Autosomal dominant

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

ORPHA:603494Malf.

Colobomatous microphthalmia

ORPHA:98938Malf.
Autosomal dominant, Autosomal recessive

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

ORPHA:424099Malf.
Autosomal dominant, Autosomal recessive

Complex lethal osteochondrodysplasia

ORPHA:457378Malf.
Autosomal recessive

Conductive deafness-malformed external ear syndrome

ORPHA:3216Malf.
Unknown