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"
CHST3-related skeletal dysplasia
Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type
Chondrodysplasia with joint dislocations, gPAPP type
gPAPP deficiency
Congenital joint dislocations
Primary bone dysplasia with multiple joint dislocations
Primary osteodysplasia with multiple joint dislocations · Primary skeletal dysplasia with multiple joint dislocations