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"

5 matching diseasesClear search ×

Paramedian nasal cleft

Isolated cleft of the ala nasi · Alar cleft

ORPHA:141242

Bifid uvula

Bifidity of the uvula · Uvular cleft

ORPHA:99771

Cleft lip/palate

Alveolar cleft lip and palate · Cleft lip and palate

ORPHA:199306

Cleft palate

ORPHA:2014

Cleft velum

Cleft velum palatinum · Cleft soft palate

ORPHA:99772