MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Cooper-Jabs syndrome

ORPHA:1488Malform.
Autosomal recessive

Coralliform cataract

ORPHA:98990Clin. sub.
Autosomal dominant

Corneal dystrophy

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

Corneal dystrophy-perceptive deafness syndrome

ORPHA:1490Malform.
Autosomal recessive

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662Disease
Autosomal dominant

Cornelia de Lange syndrome

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

Corneodermatoosseous syndrome

ORPHA:3194Malform.
Autosomal dominant

Coronary arterial fistula

ORPHA:2041Morph.
Not applicable

Corpus callosum agenesis-abnormal genitalia syndrome

ORPHA:2508Malform.
X-linked recessive

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

ORPHA:52055Malform.
X-linked recessive

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

ORPHA:459074Malform.
Unknown

Corpus callosum agenesis-neuronopathy syndrome

ORPHA:1496Disease
Autosomal recessive

Cortical blindness-intellectual disability-polydactyly syndrome

ORPHA:1389Malform.
Autosomal recessive

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

ORPHA:300570Disease
Autosomal dominant

Corticobasal syndrome

ORPHA:454887Disease

Corticosteroid-binding globulin deficiency

ORPHA:199247Disease
Semi-dominant

Costello syndrome

ORPHA:3071Malform.
Autosomal dominant, Not applicable

Cowden syndrome

ORPHA:201Clin. sub.
Autosomal dominant

Coxoauricular syndrome

ORPHA:1508Malform.
Unknown

Coxopodopatellar syndrome

ORPHA:1509Disease
Autosomal dominant

Cramp-fasciculation syndrome

ORPHA:581271Disease
Autosomal dominant

Crane-Heise syndrome

ORPHA:1512Malform.
Autosomal recessive

Cranial meningocele

ORPHA:268820Morph.

Cranio-cervical dystonia with laryngeal and upper-limb involvement

ORPHA:420485Disease
Autosomal dominant