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
Primary lymphedema
Autosomal dominant, Autosomal recessive
All ages
Primary melanocytic tumor of central nervous system
Pseudohypoparathyroidism
Autosomal dominant, Not applicable
All ages
Pulmonary arterial hypertension
Autosomal dominant, Not applicable
All ages
Pulmonary arterial hypertension associated with another disease
Not applicable
All ages
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
All ages
Rare carcinoma of pancreas
Not applicable
Adult
Rare congenital non-syndromic heart malformation
Rare developmental defect during embryogenesis
Rare disease with Pierre Robin syndrome
Rare epithelial tumor of stomach
Multigenic/multifactorial, Not applicable
Adult
Rare familial disorder with hypertrophic cardiomyopathy
Autosomal dominant
Rare form of salmonellosis
Not applicable
All ages
Rare hereditary hemochromatosis
Autosomal dominant, Autosomal recessive
All ages
Rare inborn errors of metabolism
Rare lichen planus
All ages
Rare non surgically correctable form of primary aldosteronism
Autosomal dominant, Not applicable
Rare ovarian cancer
Rare pulmonary hypertension
Rare surgically correctable form of primary aldosteronism
Not applicable
All ages
Rare thyroid carcinoma
Adult