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"

11 matching diseasesClear search ×

19p13.3 microduplication syndrome

Dup(19)(p13.3)

ORPHA:447980

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

ORPHA:261243

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

ORPHA:96078

17p13.3 microduplication syndrome

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

ORPHA:217385

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

ORPHA:254346

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

ORPHA:357001

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

ORPHA:699850

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

ORPHA:329802

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

ORPHA:280325

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

ORPHA:314389