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"

9 matching diseasesClear search ×

Unilateral multicystic dysplastic kidney

Unilateral MCDK · Unilateral multicystic renal dysplasia

ORPHA:97363

Bilateral multicystic dysplastic kidney

Bilateral MCDK · Bilateral multicystic renal dysplasia

ORPHA:97364

Choanal atresia, unilateral

ORPHA:137917

Hemimegalencephaly

Unilateral megalencephaly

ORPHA:99802

OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral

OBSOLETE: Preaxial polydactyly type 2, unilateral · OBSOLETE: Unilateral PPD2

ORPHA:295148

Renal agenesis, unilateral

ORPHA:93100

Renal dysplasia, unilateral

Kidney dysplasia, unilateral

ORPHA:93172

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

ORPHA:3374

Unilateral polymicrogyria

ORPHA:268943