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"

8 matching diseasesClear search ×

Pseudo-TORCH syndrome type 1

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

ORPHA:1229

Bilateral frontal polymicrogyria

ORPHA:208444

Bilateral frontoparietal polymicrogyria

ORPHA:101070

Bilateral generalized polymicrogyria

ORPHA:208447

Bilateral perisylvian polymicrogyria

ORPHA:98889

Bilateral polymicrogyria

ORPHA:268940

Unilateral focal polymicrogyria

ORPHA:268947

Unilateral polymicrogyria

ORPHA:268943