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"

24 matching diseasesClear search ×

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

ORPHA:1692

14q32 duplication syndrome

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

ORPHA:488280

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

ORPHA:261272

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

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

ORPHA:314034

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

ORPHA:251076

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

ORPHA:96069

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 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

ORPHA:1711

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