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 ×

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

ORPHA:2669

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

ORPHA:3232

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

ORPHA:79107

Genetic non-syndromic renal or urinary tract malformation

ORPHA:357506

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

ORPHA:2408

Non-syndromic renal or urinary tract malformation

ORPHA:93546

Non-syndromic urogenital tract malformation

ORPHA:165704

Non-syndromic urogenital tract malformation of female

ORPHA:182117

Non-syndromic urogenital tract malformation of male

ORPHA:182121

Renal or urinary tract malformation

CAKUT · Congenital anomalies of kidney and urinary tract

ORPHA:93545

Syndromic renal or urinary tract malformation

ORPHA:93547

Syndromic urogenital tract malformation

ORPHA:165707