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 ×

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

ORPHA:79506

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

ORPHA:14

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

ORPHA:425

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

ORPHA:412

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Familial Hyperalphalipoproteinemia

ORPHA:181428

Hyperlipoproteinemia type 1

HLP type 1

ORPHA:411

Hypoalphalipoproteinemia

ORPHA:31153

OBSOLETE: Combined hyperlipidemia

OBSOLETE: Mixed hyperlipidemia · OBSOLETE: Mixed hyperlipoproteinemia

ORPHA:79211

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764

OBSOLETE: Familial hypospadias

ORPHA:440

OBSOLETE: Familial pseudohyperkalemia type 2

ORPHA:100040

OBSOLETE: Familial pseudohyperkalemia, Cardiff type

ORPHA:100041

OBSOLETE: Hyperlipoproteinemia type 5

OBSOLETE: HLP type 5 · OBSOLETE: Major hyperlipidemia

ORPHA:70470

OBSOLETE: Primary parathyroid hyperplasia

OBSOLETE: Familial parathyroid hyperplasia · OBSOLETE: Hereditary parathyroid hyperplasia

ORPHA:99878

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

ORPHA:31150