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"

13 matching diseasesClear search ×

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

ORPHA:1851

Acropectororenal dysplasia

ORPHA:956

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

ORPHA:97364

Multiple epiphyseal dysplasia

MED · EDM

ORPHA:251

Multiple metaphyseal dysplasia

ORPHA:93430

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Renal dysplasia-megalocystis-sirenomelia syndrome

Selig-Benacerraf-Greene syndrome

ORPHA:1850

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

ORPHA:93173

Renal dysplasia, unilateral

Kidney dysplasia, unilateral

ORPHA:93172

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

ORPHA:294415

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

ORPHA:3156

Thymic-renal-anal-lung dysplasia

ORPHA:3326

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia

ORPHA:97363