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"

4 matching diseasesClear search ×

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

ORPHA:1799

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

ORPHA:567502

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

ORPHA:93395

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363