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"
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
NLRC4-related autoinflammatory syndrome with MAS · NLRC4-related MAS
MGP-related spondyloepiphyseal dysplasia
MGP-related SED · Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome
Spondyloepimetaphyseal dysplasia, matrilin-3 type
SEMD, MATN3-related · SEMD, matrilin-3 type