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"

52 matching diseasesClear search ×

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

ORPHA:261112

Non-distal duplication 9q syndrome

Non-distal trisomy 9q · Non-telomeric trisomy 9q

ORPHA:96112

OBSOLETE: Distal monosomy 20q

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

ORPHA:96152

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280