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"

56 matching diseasesClear search ×

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

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

ORPHA:3447

Werner syndrome

Adult progeria · WS

ORPHA:902

West syndrome

ORPHA:3451

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291