Rare Disease Library

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"

6 matching diseasesClear search ×

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Dysplastic cortical hyperostosis

ORPHA:646139

Dysplastic cortical hyperostosis, Al-Gazali type

ORPHA:646136

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

ORPHA:3416

Juvenile Paget disease

Familial osteoectasia · Hereditary hyperphosphatasia

ORPHA:2801

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

ORPHA:3152