Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Multiple paragangliomas associated with polycythemia

Multiple paragangliomas associated with erythrocytosis · Paraganglioma-somatostatinoma-polycythemia syndrome

ORPHA:324299

Glial tumor

Glioma

ORPHA:182067

Nasal glial heterotopia

Nasal glioma

ORPHA:141112