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 ×

External auditory canal aplasia/hypoplasia

External auditory canal stenosis/atresia

ORPHA:141074

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

ORPHA:99087

External auditory canal atresia-vertical talus-hypertelorism syndrome

Rasmussen-Johnsen-Thomsen syndrome

ORPHA:3023

Pinnae and external auditory canal anomaly

ORPHA:156243

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

ORPHA:500188