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"

13 matching diseasesClear search ×

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

ORPHA:2835

Aniridia-intellectual disability syndrome

Walker-Dyson syndrome

ORPHA:1068

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

ORPHA:2220

Marden-Walker syndrome

ORPHA:2461

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

ORPHA:739

Prader-Willi-like syndrome

PWS-like

ORPHA:398073

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

ORPHA:622099

Talo-patello-scaphoid osteolysis

Singh-Williams-McAlister syndrome

ORPHA:50809

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

ORPHA:568056

Weaver-Williams syndrome

ORPHA:3448

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Williams-Campbell syndrome

ORPHA:411501