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"

99 matching diseasesClear search ×

X-linked intellectual disability, Wittwer type

Wittwer syndrome

ORPHA:85291

X-linked intellectual disability, Zorick type

ORPHA:85337

X-linked non-syndromic intellectual disability

ORPHA:777