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"

10 matching diseasesClear search ×

Distal triplication 15q syndrome

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

ORPHA:314588

16p12.1p12.3 triplication syndrome

Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)

ORPHA:485405

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

ORPHA:1596

Inverted duplicated chromosome 15 syndrome

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

ORPHA:3306

Microtriplication 11q24.1 syndrome

Tetrasomy 11q24.1

ORPHA:289522

Tetrasomy 18p syndrome

Isochromosome 18p

ORPHA:3307

Tetrasomy 21 syndrome

Isochromosome 21

ORPHA:96055

Tetrasomy 5p syndrome

Isochromosome 5p

ORPHA:3309

Tetrasomy 9p syndrome

Isochromosome 9p

ORPHA:3310

Tetrasomy X syndrome

48,XXXX syndrome · Quadruple X

ORPHA:9