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"

55 matching diseasesClear search ×

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

ORPHA:96168

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

ORPHA:1600

Monosomy 22 syndrome

Del(22) · Deletion 22

ORPHA:96123

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

ORPHA:281

OBSOLETE: Distal monosomy 20q

OBSOLETE: Monosomy 20qter · OBSOLETE: Distal deletion 20q

ORPHA:96152

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280