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 ×

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

ORPHA:315306

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

ORPHA:90794

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic 21-OHD CAH, simple virilizing form

ORPHA:315311