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"

12 matching diseasesClear search ×

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

ORPHA:96160

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

ORPHA:94063

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

ORPHA:289513

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

ORPHA:96149

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

ORPHA:1620

Inverted duplicated chromosome 15 syndrome

Inv dup (15) syndrome · idic (15) syndrome

ORPHA:3306

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

Non-distal duplication 13q syndrome

Non-distal trisomy 13q · Non-telomeric trisomy 13q

ORPHA:1702

Non-distal duplication 9q syndrome

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

ORPHA:96112

OBSOLETE: Non-distal monosomy 20q

OBSOLETE: Non-distal deletion 20q · OBSOLETE: Non-telomeric monosomy 20q

ORPHA:96164

OBSOLETE: Non-distal monosomy 7p

OBSOLETE: Non-distal deletion 7p · OBSOLETE: Non-telomeric monosomy 7p

ORPHA:96136