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"

7 matching diseasesClear search ×

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

ORPHA:189427

Adrenal Cushing syndrome

Adrenal CS

ORPHA:647758

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

ORPHA:95699

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

ORPHA:90790

Cushing syndrome due to cortisol-producing adrenocortical adenoma

CS due to cortisol-producing adrenocortical adenoma

ORPHA:642788

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

ORPHA:99893

OBSOLETE: ACTH-independent Cushing syndrome due to bilateral adrenocortical hyperplasia

ORPHA:189424