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"

200 matching diseasesClear search ×

Axial spondylometaphyseal dysplasia

ORPHA:168549

B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality

ORPHA:585877

Bardet-Biedl syndrome

BBS

ORPHA:110

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

ORPHA:231127

Behçet disease

ORPHA:117

Benign metanephric tumor

ORPHA:464359

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

ORPHA:134

Beta-mannosidosis

Beta-mannosidase deficiency

ORPHA:118