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"

15 matching diseasesClear search ×

17p13.3 microduplication syndrome

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

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17q11.2 microduplication syndrome

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

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

2p25.3 microduplication syndrome

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

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal deletion 12p syndrome

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

PMP22-RAI1 contiguous gene duplication syndrome

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

Trisomy 17p syndrome

Dup(17p)

Xq12-q13.3 duplication syndrome

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