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"

8 matching diseasesClear search ×

Progeria-short stature-pigmented nevi syndrome

Mulvihill-Smith syndrome

ORPHA:2959

Hutchinson-Gilford progeria syndrome

HGPS · Progeria

ORPHA:740

LMNA-related cardiocutaneous progeria syndrome

LCPS

ORPHA:363618

Nestor-Guillermo progeria syndrome

NGPS

ORPHA:280576

OBSOLETE: Progeria-associated arthropathy

ORPHA:99706

Pseudoprogeria syndrome

Hal-Berg-Rudolph syndrome · Absent eyebrows and eyelashes-intellectual disability syndrome

ORPHA:2985

Acrogeria

Acrogeria, Gottron type · Acrometageria

ORPHA:2500

Werner syndrome

Adult progeria · WS

ORPHA:902