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"

5 matching diseasesClear search ×

Osteomesopyknosis

Osteomesopycnosis · Axial osteosclerosis

ORPHA:2777

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

ORPHA:1798

Dysosteosclerosis

ORPHA:1782

Myosclerosis

Congenital myosclerosis, Löwenthal type

ORPHA:289380

Sclerosteosis

Cortical hyperostosis-syndactyly syndrome

ORPHA:3152