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"

20 matching diseasesClear search ×

Inverted duplicated chromosome 15 syndrome

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

ORPHA:3306

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

ORPHA:1596

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

ORPHA:96102

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q

ORPHA:96103

Distal duplication 13q syndrome

Distal trisomy 13q · Telomeric duplication 13q

ORPHA:96105

Distal duplication 15q syndrome

Distal trisomy 15q · Telomeric duplication 15q

ORPHA:1707

Distal duplication 16q syndrome

Distal trisomy 16q · Telomeric duplication 16q

ORPHA:96106

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

ORPHA:3379

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

ORPHA:1716

Distal duplication 19q syndrome

Telomeric duplication 19q · Trisomy 19qter

ORPHA:1717

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

ORPHA:96069

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

ORPHA:96097

Distal triplication 15q syndrome

Distal tetrasomy 15q · Tetrasomy 15(q25-qter)

ORPHA:314588

Microtriplication 11q24.1 syndrome

Tetrasomy 11q24.1

ORPHA:289522

Non-distal deletion 10q syndrome

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

ORPHA:1581

Non-distal deletion 12q syndrome

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

ORPHA:96160

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