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"

3 matching diseasesClear search ×

Late-onset focal dermal elastosis

PXE-like late-onset focal dermal elastosis · Pseudoxanthoma-like late-onset focal dermal elastosis

ORPHA:228227

Linear focal elastosis

Linear focal dermal elastosis · Elastotic striae

ORPHA:228236

Pseudoxanthoma elasticum-like papillary dermal elastolysis

PXE-like papillary dermal elastolysis

ORPHA:228293