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"
Holzgreve syndrome
Holzgreve-Wagner-Rehder syndrome · Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome
Osteogenesis imperfecta type 1
Adair-Dighton syndrome · Mild osteogenesis imperfecta
Revesz syndrome
Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome
Wagner disease
Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy
WAGR syndrome
Del(11)(p13) · Deletion 11p13