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"

12 matching diseasesClear search ×

Talo-patello-scaphoid osteolysis

Singh-Williams-McAlister syndrome

ORPHA:50809

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

ORPHA:2220

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

ORPHA:2363

Lethal short-limb dwarfism, McAlister-Crane type

McAlister-Crane syndrome

ORPHA:2640

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

ORPHA:672

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

ORPHA:884

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

ORPHA:2835

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

ORPHA:739

W syndrome

Pallister-W syndrome

ORPHA:2804

Weaver-Williams syndrome

ORPHA:3448

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Williams-Campbell syndrome

ORPHA:411501