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 ×

X-linked intellectual disability, Stevenson type

ORPHA:85325

X-linked intellectual disability, Stoll type

ORPHA:85326

X-linked intellectual disability, Turner type

ORPHA:85328

X-linked intellectual disability, Vitale type

ORPHA:85289

X-linked intellectual disability, Wilson type

ORPHA:85290

X-linked intellectual disability, Zorick type

ORPHA:85337

X-linked non-syndromic intellectual disability

ORPHA:777

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436