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"

148 matching diseasesClear search ×

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11

ORPHA:85286

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436

X-linked spasticity-intellectual disability-epilepsy syndrome

ORPHA:3175