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"

7 matching diseasesClear search ×

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28

ORPHA:261483

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

ORPHA:217385

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

3q29 microduplication syndrome

Trisomy 3q29

ORPHA:251038

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

ORPHA:96071

Distal Xq28 microduplication syndrome

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

ORPHA:293939

Down syndrome

Trisomy 21

ORPHA:870