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 ×

Subcortical band heterotopia

Subcortical laminar heterotopia

ORPHA:99796

Sub-cortical nodular heterotopia

ORPHA:101029

Subependymal nodular heterotopia

ORPHA:101030