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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"
Juvenile Paget disease
Familial osteoectasia · Hereditary hyperphosphatasia
Familial calcium pyrophosphate deposition
Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC
Familial expansile osteolysis
Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease
Familial osteodysplasia, Anderson type
Paroxysmal extreme pain disorder
Familial rectal pain