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"

20 matching diseasesClear search ×

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

ORPHA:886

Usher syndrome type 1

USH1

ORPHA:231169

Usher syndrome type 2

USH2

ORPHA:231178

Usher syndrome type 3

USH3

ORPHA:231183

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 cortisol-producing adrenocortical adenoma

CS due to cortisol-producing adrenocortical adenoma

ORPHA:642788

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ORPHA:99889

Endogenous Cushing syndrome

Endogenous CS

ORPHA:641613

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

OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor

ORPHA:443287

OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor

OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor

ORPHA:642013

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

Rare adrenocortical nodular disease with Cushing syndrome as a major feature

ORPHA:647768

Rare disease with adrenal Cushing syndrome as a major feature

ORPHA:314749

Retinal ciliopathy due to mutation in Usher gene

ORPHA:156177

X-linked mixed deafness with perilymphatic gusher

Conductive deafness with stapes fixation · DFNX2

ORPHA:383