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"

10 matching diseasesClear search ×

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

ORPHA:217340

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

ORPHA:488280

17p13.3 microduplication syndrome

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

ORPHA:217385

17q11.2 microduplication syndrome

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

ORPHA:139474

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

ORPHA:261272

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

ORPHA:363958

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

ORPHA:250994

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

ORPHA:313947

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

Trisomy 17p syndrome

Dup(17p)

ORPHA:261290