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"

6 matching diseasesClear search ×

Microphthalmia with limb anomalies

Anophthalmia-syndactyly syndrome · OAS

ORPHA:1106

Anaplastic oligoastrocytoma

aMOA

ORPHA:251663

COASY protein-associated neurodegeneration

CoPAN · NBIA6

ORPHA:397725

Oligoastrocytic tumor

Mixed oligodendroglial and astrocytic tumor

ORPHA:251651

Oligoastrocytoma

MOA · Mixed oligoastrocytoma

ORPHA:251656

Pleomorphic xanthoastrocytoma

PXA

ORPHA:251607