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"
High altitude pulmonary edema
HAPE
Angel-shaped phalango-epiphyseal dysplasia
ASPED
Butterfly-shaped pigment dystrophy
Butterfly-shaped pattern dystrophy · Butterfly-shaped pigmentary macular dystrophy
Lens shape anomaly
OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome
OBSOLETE: Fitzsimmons-Guilbert syndrome