MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Cooper-Jabs syndrome

ORPHA:1488Malf.
Autosomal recessive

Coralliform cataract

ORPHA:98990Kl. subt.
Autosomal dominant

Corneal dystrophy

ORPHA:34533Kat.
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked recessive

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Malf.
Autosomal recessive

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662Kr.
Autosomal dominant

Cornelia de Lange syndrome

ORPHA:199Malf.
Autosomal dominant, Not applicable, X-linked recessive

Corneodermatoosseous syndrome

ORPHA:3194Malf.
Autosomal dominant

Coronary arterial fistula

ORPHA:2041Morph.
Not applicable

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Malf.
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Malf.
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Malf.
Unknown

Corpus callosum agenesis-neuronopathy syndrome

ORPHA:1496Kr.
Autosomal recessive

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Malf.
Autosomal recessive

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

ORPHA:300570Kr.
Autosomal dominant

Corticobasal syndrome

ORPHA:454887Kr.

Corticosteroid-binding globulin deficiency

ORPHA:199247Kr.
Semi-dominant

Costello syndrome

ORPHA:3071Malf.
Autosomal dominant, Not applicable

Cowden syndrome

ORPHA:201Kl. subt.
Autosomal dominant

Coxoauricular syndrome

ORPHA:1508Malf.
Unknown

Coxopodopatellar syndrome

ORPHA:1509Kr.
Autosomal dominant

Cramp-fasciculation syndrome

ORPHA:581271Kr.
Autosomal dominant

Crane-Heise syndrome

ORPHA:1512Malf.
Autosomal recessive

Cranial meningocele

ORPHA:268820Morph.

Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA:420485Kr.
Autosomal dominant