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 ×

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435