MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Cyanide poisoning

ORPHA:466670Situation
Not applicable

Cyanide-induced parkinsonism-dystonia

ORPHA:306692Disease

Cyclic neutropenia

ORPHA:2686Disease
Autosomal dominant

Cyclosporiasis

ORPHA:210Disease
Not applicable

Cyprus facial-neuromusculoskeletal syndrome

ORPHA:2674Malform.
Autosomal dominant

Cystadenoma of childhood

ORPHA:206470Disease

Cystathioninuria

ORPHA:212Disease
Autosomal recessive

Cystic echinococcosis

ORPHA:400Disease
Not applicable

Cystic fibrosis

ORPHA:586Disease
Autosomal recessive

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

ORPHA:2575Disease
Autosomal recessive

Cystic hamartoma of lung and kidney

ORPHA:2111Disease
Unknown

Cystic leukoencephalopathy without megalencephaly

ORPHA:85136Disease
Autosomal recessive

Cysticercosis

ORPHA:1560Disease
Not applicable

Cystinosis

ORPHA:213Disease
Autosomal recessive

Cystinuria

ORPHA:214Disease
Autosomal recessive, Semi-dominant

Cystinuria type A

ORPHA:93612Etio. sub.
Autosomal recessive

Cystinuria type B

ORPHA:93613Etio. sub.
Semi-dominant

Cystoid macular dystrophy

ORPHA:75381Disease
Autosomal dominant

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

ORPHA:137698Situation
Not applicable

Cytophagic histiocytic panniculitis

ORPHA:94087Disease
Unknown

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

ORPHA:477787Disease
Autosomal recessive

Czeizel-Losonci syndrome

ORPHA:2437Malform.
Autosomal dominant

D,L-2-hydroxyglutaric aciduria

ORPHA:356978Disease
Autosomal recessive

D-2-hydroxyglutaric aciduria

ORPHA:79315Disease
Autosomal dominant, Autosomal recessive