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"

12 matching diseasesClear search ×

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

ORPHA:261243

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

ORPHA:300305

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

ORPHA:261204

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

ORPHA:261236

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

19p13.3 microduplication syndrome

Dup(19)(p13.3)

ORPHA:447980

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

ORPHA:329802

Hao-Fountain syndrome due to 16p13.2 microdeletion

Del(16)(p13.2) · Monosomy 16p13.2

ORPHA:500055

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

ORPHA:477817

Proximal 16p11.2 microduplication syndrome

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

ORPHA:370079

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893