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"

2 matching diseasesClear search ×

Mesomelic dysplasia, Kantaputra type

Kantaputra mesomelic dysplasia · MDK

ORPHA:1836

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565