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"

23 matching diseasesClear search ×

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

ORPHA:1711

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

ORPHA:1713

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 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

ORPHA:217340

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

ORPHA:3379

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

ORPHA:96063

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

ORPHA:1698

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

ORPHA:1703

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

ORPHA:1706

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

ORPHA:1708

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

ORPHA:1723

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

ORPHA:1724

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

ORPHA:96068

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

ORPHA:100071

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

ORPHA:96059

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

ORPHA:96060

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

ORPHA:1747

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

ORPHA:96061

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

ORPHA:99776

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

ORPHA:884