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"

2 matching diseasesClear search ×

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

ORPHA:647

Ataxia-telangiectasia variant

v-AT

ORPHA:370109