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"

7 matching diseasesClear search ×

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

ORPHA:1035

Hypocomplementemic urticarial vasculitis

Anti-C1q vasculitis · Mac Duffie hypocomplementemic urticarial vasculitis

ORPHA:36412

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

ORPHA:98969

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

ORPHA:1851

Multiple carboxylase deficiency

MCD

ORPHA:148

North Carolina macular dystrophy

CAPE dystrophy · CAPED

ORPHA:75327

Retinal macular dystrophy type 2

MCDR2

ORPHA:319640