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"

56 matching diseasesClear search ×

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

ORPHA:96168

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

ORPHA:1600

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

ORPHA:1581

Non-distal duplication 10q syndrome

Non-distal trisomy 10q · Non-telomeric trisomy 10q

ORPHA:1695

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

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424