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"

2 matching diseasesClear search ×

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

ORPHA:481665

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

ORPHA:1229