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"

10 matching diseasesClear search ×

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

ORPHA:96253

Functioning gonadotropic adenoma

Functioning pituitary gonadotropic adenoma · Gonadotroph adenoma

ORPHA:91348

Functioning pituitary adenoma

Endocrine active pituitary adenoma · Secreting pituitary adenoma

ORPHA:314753

Mixed functioning pituitary adenoma

Mixed secreting pituitary adenoma

ORPHA:314759

Null pituitary adenoma

ORPHA:314790

Pituitary adenoma

ORPHA:99408

Prolactinoma

Lactotroph adenoma · PRL-secreting pituitary adenoma

ORPHA:2965

Silent pituitary adenoma

ORPHA:314786

Somatomammotropinoma

Somatoprolactinoma · Somatolactotropinoma

ORPHA:314769

TSH-secreting pituitary adenoma

Pituitary thyrotrophic adenoma · TSH-oma

ORPHA:91347