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"

8 matching diseasesClear search ×

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

ORPHA:228399

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

ORPHA:261229

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