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"

8 matching diseasesClear search ×

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 Hyperalphalipoproteinemia

ORPHA:181428

Homozygous familial hypercholesterolemia

HoFH

ORPHA:391665

Hypoalphalipoproteinemia

ORPHA:31153

Hypobetalipoproteinemia

ORPHA:31154

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

ORPHA:79506