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 ×

Late-onset focal dermal elastosis

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

ORPHA:228227

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

ORPHA:91135

Linear focal elastosis

Linear focal dermal elastosis · Elastotic striae

ORPHA:228236

Pseudoxanthoma elasticum

Gronblad-Strandberg-Touraine syndrome · PXE

ORPHA:758

Pseudoxanthoma elasticum-like papillary dermal elastolysis

PXE-like papillary dermal elastolysis

ORPHA:228293