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"

17 matching diseasesClear search ×

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ORPHA:99889

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

ORPHA:99892

Adrenal Cushing syndrome

Adrenal CS

ORPHA:647758

Campomelia, Cumming type

Cumming syndrome

ORPHA:1318

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

Endogenous Cushing syndrome

Endogenous CS

ORPHA:641613

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

ORPHA:603684

Myelodysplastic syndrome

MDS · Myelodysplastic syndromes

ORPHA:52688

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

ORPHA:553

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

Paraneoplastic neurologic syndrome

PNS

ORPHA:36388

Paraneoplastic pemphigus

ORPHA:63455

Paraneoplastic uveitis

ORPHA:279928

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

ORPHA:2825

Primary hypereosinophilic syndrome

Clonal hypereosinophilic syndrome · HES-M

ORPHA:314950

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815