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
Thyroid ectopia
Not applicable
Infancy, Neonatal
Thyroid hemiagenesis
Not applicable
Neonatal
Thyroid hypoplasia
Autosomal dominant, Not applicable
Infancy, Neonatal
Tracheal agenesis
Unknown
Antenatal, Neonatal
Tricuspid atresia
Not applicable
Antenatal, Neonatal
Uhl anomaly
Not applicable
Infancy, Neonatal
Unilateral ocular duplication
Autosomal dominant
Neonatal
Unilateral polymicrogyria
Infancy, Neonatal
Univentricular heart
Not applicable
Infancy, Neonatal
Urachal cyst
Not applicable
Infancy, Neonatal
Urachal diverticulum
Not applicable
Urachal sinus
Not applicable
Infancy, Neonatal
Vaginal atresia
Not applicable
Childhood
Vein of Galen malformation
Not applicable
Antenatal, Infancy, Neonatal
Williams-Campbell syndrome
Not applicable
Adult, Childhood