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"

58 matching diseasesClear search ×

Distal triplication 15q syndrome

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

ORPHA:314588

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

ORPHA:293939

Down syndrome

Trisomy 21

ORPHA:870

Inverted duplicated chromosome 15 syndrome

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

ORPHA:3306

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

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

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

ORPHA:370079

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280