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 ×

Familial benign copper deficiency

Familial benign hypocupremia

ORPHA:1551

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

Familial benign flecked retina

ORPHA:363989

Familial hypercholanemia

Hereditary hypercholanemia

ORPHA:238475

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

ORPHA:397685

Familial hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Familial hypodysfibrinogenemia

ORPHA:248408

Familial hypofibrinogenemia

ORPHA:101041

Hereditary renal hypouricemia

Familial renal hypouricemia

ORPHA:94088

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

ORPHA:682