All patient-facing tools are free · No login required to browse
All access tools are free for patients and caregivers
All community tools are free for patients and caregivers
7 Patents Filed · HIPAA-Aligned · Free for Patients · Westwood, MA
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"
Familial developmental dysphasia
Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
BILU syndrome · Hoffman syndrome
Ballard syndrome
Pitt-Williams brachydactyly · Brachydactyly, combined B and E types
Lacrimoauriculodentodigital syndrome
LADD syndrome · LARD syndrome