Orphanet Database · Orphadata CC-BY-4.0
Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
7,547
Diseases
4 552
Genes
8 700
Phenotypes
140
Regions
All (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Cleft lip/palate
Multigenic/multifactorial
Infancy, Neonatal
Cleft velum
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Coarctation of aorta
Not applicable
Adolescent, Adult, Childhood, Infancy, Neonatal
Cochlear nerve deficiency
Neonatal
Cochleovestibular malformation
Neonatal
Coloboma of choroid and retina
Autosomal dominant
Coloboma of eye lens
Coloboma of eyelid
Coloboma of iris
Coloboma of macula
Coloboma of optic disc
Colonic atresia
Not applicable
Antenatal, Neonatal
Common arterial trunk
Not applicable
Infancy, Neonatal
Complete atrioventricular septal defect
Not applicable
Infancy, Neonatal
Congenital Gerbode defect
Infancy, Neonatal
Congenital achiasma
Infancy, Neonatal
Congenital agenesis of the scrotum
Neonatal
Congenital aortic valve stenosis
Infancy, Neonatal
Congenital aortopulmonary window
Congenital bilateral absence of vas deferens
Multigenic/multifactorial
Adolescent, Adult
Congenital complete agenesis of pericardium
Not applicable
Congenital cornea plana
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Congenital cystic eye
Antenatal
Congenital diaphragmatic hernia
Multigenic/multifactorial, Not applicable
Neonatal