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"

17 matching diseasesClear search ×

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

16p11.2p12.2 microduplication syndrome

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

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

Down syndrome

Trisomy 21

PMP22-RAI1 contiguous gene duplication syndrome

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