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 ×

NEMO deleted exon 5 autoinflammatory syndrome

NDAS · NEMO-NDAS

ORPHA:699605

PANDAS

Pediatric autoimmune disorders associated with Streptococcus infections · Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections

ORPHA:66624