Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases

4 552Genes

8 700Phenotypes

Diagnostics Orphan drugs Clinical trials Statistics

All Bio anom.Cat.Clin. grp.Clin. sub.Clinical syndrome Disease Etio. sub.Hist. sub.Malform.Morph.Situation

218 diseases matched (Clin. grp.) Reset

X-linked intellectual disability-epilepsy syndrome

ORPHA:2076Clin. grp.

X-linked dominant, X-linked recessive

X-linked lymphoproliferative disease

ORPHA:2442Clin. grp.

X-linked recessive

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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

Diagnostic assistant Drug search Clinical trials Statistics