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 ×

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

ORPHA:238446

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

ORPHA:300305

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

ORPHA:261229

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

ORPHA:261183

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

ORPHA:199318

17q11.2 microduplication syndrome

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

ORPHA:139474

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

ORPHA:261272

20q11.2 microduplication syndrome

Dup(20)(q11.2)

ORPHA:363659

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

ORPHA:1727

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

ORPHA:96121

Xq12-q13.3 duplication syndrome

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

ORPHA:314389