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"

15 matching diseasesClear search ×

Aromatase excess syndrome

AEXS · Familial hyperestrogenism

ORPHA:178345

Combined pituitary hormone deficiencies, genetic forms

Familial congenital hypopituitarism · Multiple pituitary hormone deficiencies, genetic forms

ORPHA:95494

Familial gestational hyperthyroidism

ORPHA:99819

Familial hyperaldosteronism

FH

ORPHA:235936

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Familial hyperaldosteronism type II

FH-II · FH2

ORPHA:404

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274

Familial hyperaldosteronism type IV

FH4

ORPHA:642671

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Familial hyperinsulinism

FHI · Familial hyperinsulinemic hypoglycemia

ORPHA:276525

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

ORPHA:397685

Familial hypoaldosteronism

ORPHA:427

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Familial hypofibrinogenemia

ORPHA:101041

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682