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"
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Ladda-Zonana-Ramer syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome
Lacrimoauriculodentodigital syndrome
LADD syndrome · LARD syndrome
Ramon syndrome
Cherubism-gingival fibromatosis-intellectual disability syndrome