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"

3 matching diseasesClear search ×

X-linked intellectual disability, Shrimpton type

MRXS9

ORPHA:85324

Syndromic X-linked intellectual disability 7

MRXS7 · X-linked intellectual disability, Ahmad type

ORPHA:85274

X-linked intellectual disability, Hedera type

MRXSH

ORPHA:93952