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"

200 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

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

ORPHA:51636

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked intellectual disability-retinitis pigmentosa syndrome

Aldred syndrome · Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion

ORPHA:85332

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked intellectual disability, Armfield type

Armfield syndrome

ORPHA:85276