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"

8 matching diseasesClear search ×

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

ORPHA:99892

Adrenal Cushing syndrome

Adrenal CS

ORPHA:647758

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

ORPHA:96253

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

ORPHA:189427

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ORPHA:99889

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

ORPHA:1652

Endogenous Cushing syndrome

Endogenous CS

ORPHA:641613

OBSOLETE: ACTH-independent Cushing syndrome

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

ORPHA:99893