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 ×

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379

COG6-CGD

CDG2L · CDG syndrome type IIL

ORPHA:464443

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

ORPHA:242