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"
Non-specific autoimmune cerebellar ataxia without characteristic antibodies
Non-specific autoimmune CA without characteristic antibodies · Primary Autoimmune Cerebellar Ataxia
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome
Posterior amorphous corneal dystrophy
PACD · Posterior amorphous stromal dystrophy
Primary angiitis of the central nervous system
Isolated angiitis of the central nervous system · PACNS