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 ×

Platyspondylic dysplasia, Torrance type

PLSD-T · Platyspondylic dysplasia, Torrance-Luton type

ORPHA:85166

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

ORPHA:678

Pleomorphic liposarcoma

PLS

ORPHA:99969

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

ORPHA:35689

T-cell prolymphocytic leukemia

T-PLL · T-cell chronic lymphocytic leukemia

ORPHA:86871