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"

12 matching diseasesClear search ×

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

ORPHA:234

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

ORPHA:412

Hyperbiliverdinemia

Green jaundice

ORPHA:276405

Hyperlipoproteinemia type 1

HLP type 1

ORPHA:411

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

ORPHA:2203

Hyperprolinemia type 1

Proline oxidase deficiency

ORPHA:419

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

ORPHA:79101

Rotor syndrome

Hyperbilirubinemia, Rotor type

ORPHA:3111

Saccharopinuria

Hyperlysinemia type II · Saccharopine dehydrogenase deficiency

ORPHA:3124

Transient familial neonatal hyperbilirubinemia

Lucey-Driscoll syndrome

ORPHA:2312

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

ORPHA:28378