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"

100 matching diseasesClear search ×

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

ORPHA:904

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435