MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Classical-like Ehlers-Danlos syndrome type 2

ORPHA:536532Disease
Autosomal recessive

Clear cell adenocarcinoma of the ovary

ORPHA:398971Disease

Clear cell renal carcinoma

ORPHA:319276Disease
Not applicable

Clear cell sarcoma of kidney

ORPHA:457246Disease
Not applicable

Coats disease

ORPHA:190Disease
Not applicable

Coats plus syndrome

ORPHA:313838Disease
Autosomal recessive

Cobblestone lissencephaly without muscular or ocular involvement

ORPHA:352682Disease
Autosomal recessive

Cocaine intoxication

ORPHA:90068Disease
Not applicable

Coccidioidomycosis

ORPHA:228123Disease
Not applicable

Cockayne syndrome

ORPHA:191Disease
Autosomal recessive

Cogan syndrome

ORPHA:1467Disease
Not applicable

Cold agglutinin disease

ORPHA:56425Disease
Multigenic/multifactorial

Cold-induced sweating syndrome

ORPHA:157820Disease
Autosomal recessive

Collecting duct carcinoma

ORPHA:247203Disease
Not applicable

Colobomatous macrophthalmia-microcornea syndrome

ORPHA:468672Disease
Autosomal dominant

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

ORPHA:363741Disease
Autosomal dominant

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

ORPHA:435930Disease
Autosomal recessive

Colorado tick fever

ORPHA:83595Disease
Not applicable

Combined deficiency of factor V and factor VIII

ORPHA:35909Disease
Autosomal recessive

Combined deficiency of factor VII and factor X

ORPHA:600691Disease

Combined hamartoma of the retina and retinal pigment epithelium

ORPHA:440727Disease
Not applicable

Combined hepatocellular carcinoma and cholangiocarcinoma

ORPHA:529852Disease

Combined immunodeficiency due to CARD11 deficiency

ORPHA:357237Disease
Autosomal recessive

Combined immunodeficiency due to CD27 deficiency

ORPHA:238505Disease
Autosomal recessive