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"

195 matching diseasesClear search ×

X-linked intellectual disability-cerebellar hypoplasia syndrome

OPHN1 syndrome · Oligophrenin-1 syndrome

ORPHA:137831

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

Arena syndrome

ORPHA:85333

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435