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"

11 matching diseasesClear search ×

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

ORPHA:97364

Mandibulofacial dysostosis

Bilateral and symmetric oto-mandibular dysplasia

ORPHA:155899

Multicystic dysplastic kidney

MCDK · Multicystic renal dysplasia

ORPHA:1851

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MEB disease with bilateral multicystic leucodystrophy

ORPHA:370997

Renal dysplasia

Kidney dysplasia

ORPHA:93108

Renal dysplasia, bilateral

Kidney dysplasia, bilateral

ORPHA:93173

Renal dysplasia, unilateral

Kidney dysplasia, unilateral

ORPHA:93172

Renal hypoplasia, bilateral

ORPHA:97362

Renal hypoplasia, unilateral

ORPHA:97361

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

ORPHA:294415

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia

ORPHA:97363