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 ×

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

ORPHA:60040

Cutis marmorata telangiectatica congenita

CMTC

ORPHA:1556

Medullary thyroid carcinoma

MTC

ORPHA:1332